Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID transcript_name strand transcript_status amino_acid_change ucsc_cons normal_depth normal_vaf tumor_depth tumor_vaf rna_depth rna_vaf polyphen sift condel domain NOC2L 26155 genome.wustl.edu 37 1 891361 891361 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015658.3 -1 validated p.D214N 1.000 234 0% 467 34.3% 49 44.8% probably_damaging(0.999) tolerated(0.26) deleterious(0.524) NULL NOC2L 26155 genome.wustl.edu 37 1 892595 892595 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015658.3 -1 validated p.D80Y 1.000 95 0% 137 31.4% 36 41.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CCNL2 81669 genome.wustl.edu 37 1 1334537 1334537 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030937.4 -1 validated p.E50D 1.000 11 0% 19 63.2% 22 36.3% benign(0.022) tolerated(0.53) neutral(0.009) HMMPfam_Cyclin_N ATAD3B 83858 genome.wustl.edu 37 1 1416264 1416264 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031921.4 +1 provisional p.E154D 0.998 252 0% 410 34.4% 29 3.4% benign(0.032) tolerated(0.18) neutral(0.058) NULL CDK11A 728642 genome.wustl.edu 37 1 1588901 1588901 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000340677 -1 known p.T12N 1.000 319 0% 539 21.3% 8 25% - - - NULL CDK11A 728642 genome.wustl.edu 37 1 1634968 1634968 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024011.2 -1 reviewed p.L669 0.978 183 0% 254 29.9% 51 21.5% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase CDK11A 728642 genome.wustl.edu 37 1 1654161 1654161 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024011.2 -1 reviewed p.K33Q 0.997 298 0% 519 19.5% 16 6.2% probably_damaging(0.996) tolerated(0.41) deleterious(0.477) NULL KIAA1751 85452 genome.wustl.edu 37 1 1890623 1890623 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080484.1 -1 predicted p.I596S 0.845 129 0% 219 33.8% 0 - possibly_damaging(0.731) deleterious(0.01) deleterious(0.673) NULL KIAA1751 85452 genome.wustl.edu 37 1 1920371 1920371 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080484.1 -1 predicted p.L37F 0.000 27 0% 83 33.7% 0 - possibly_damaging(0.951) tolerated(0.07) deleterious(0.713) NULL GABRD 2563 genome.wustl.edu 37 1 1956382 1956382 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000815.4 +1 reviewed p.A24T 1.000 47 0% 77 37.7% 0 - benign(0.18) tolerated(0.46) neutral(0.029) NULL PLCH2 9651 genome.wustl.edu 37 1 2415979 2415979 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014638.2 +1 provisional p.L246 1.000 71 0% 59 30.5% 0 - - - - HMMPfam_efhand_like,superfamily_EF-hand TNFRSF14 8764 genome.wustl.edu 37 1 2488119 2488119 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003820.2 +1 reviewed p.D6Y 0.000 64 0% 61 29.5% 10 0% benign(0.01) deleterious(0.01) neutral(0.406) NULL MMEL1 79258 genome.wustl.edu 37 1 2523037 2523037 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033467.3 -1 reviewed p.I724 0.733 102 0% 175 30.9% 0 - - - - "HMMPfam_Peptidase_M13,superfamily_Metalloproteases (""zincins"") catalytic domain" PRDM16 63976 genome.wustl.edu 37 1 3342229 3342229 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022114.3 +1 reviewed p.F1007L 1.000 83 0% 84 33.3% 0 - possibly_damaging(0.94) deleterious(0) deleterious(0.830) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LRRC47 57470 genome.wustl.edu 37 1 3701710 3701710 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020710.2 -1 validated p.E379K 1.000 69 1.4% 92 42.4% 50 46% benign(0.069) deleterious(0.01) neutral(0.410) HMMPfam_B3_4 CEP104 9731 genome.wustl.edu 37 1 3746507 3746507 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014704.3 -1 validated p.R631* 0.001 115 0% 213 29.6% 7 14.2% - - - superfamily_ARM repeat CEP104 9731 genome.wustl.edu 37 1 3765182 3765182 + Nonsense_Mutation SNP G G A rs145420390 TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014704.3 -1 validated p.R93* 1.000 150 0% 229 31.9% 10 50% - - - NULL LOC100287848 100287848 genome.wustl.edu 37 1 4772032 4772032 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002342029.1 -1 model p.E219K 0.987 24 0% 10 50% 0 - - - - NULL NPHP4 261734 genome.wustl.edu 37 1 5924557 5924557 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015102.2 -1 reviewed p.F1279 0.001 27 0% 33 42.4% 8 12.5% - - - NULL KCNAB2 8514 genome.wustl.edu 37 1 6147554 6147554 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003636.2 +1 reviewed p.K118N 1.000 149 0% 104 29.8% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Aldo_ket_red,superfamily_NAD(P)-linked oxidoreductase CHD5 26038 genome.wustl.edu 37 1 6170489 6170489 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015557.1 -1 provisional p.E1783K 1.000 182 0% 257 34.2% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_CHDCT2 RPL22 6146 genome.wustl.edu 37 1 6257713 6257713 + Missense_Mutation SNP A A T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000983.3 -1 reviewed p.F39Y 1.000 80 0% 245 35.9% 1134 39.5% probably_damaging(0.976) deleterious(0) deleterious(0.863) HMMPfam_Ribosomal_L22e ICMT 23463 genome.wustl.edu 37 1 6293654 6293654 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012405.3 -1 reviewed p.A112T 1.000 125 0% 248 33.9% 20 45% benign(0.006) tolerated(0.08) neutral(0.300) NULL ESPN 83715 genome.wustl.edu 37 1 6488439 6488439 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031475.2 +1 reviewed p.D150Y 1.000 69 0% 89 33.7% 0 - probably_damaging(1) tolerated(0.24) deleterious(0.537) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat TAS1R1 80835 genome.wustl.edu 37 1 6638793 6638793 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138697.3 +1 reviewed p.F559L 0.992 74 0% 105 42.9% 0 - benign(0.309) tolerated(0.23) neutral(0.138) NULL DNAJC11 55735 genome.wustl.edu 37 1 6697387 6697387 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018198.3 -1 validated p.V465 0.540 183 0% 291 33.7% 37 37.8% - - - NULL CAMTA1 23261 genome.wustl.edu 37 1 7724937 7724937 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015215.1 +1 validated p.I777T 1.000 27 0% 29 41.4% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL CAMTA1 23261 genome.wustl.edu 37 1 7798336 7798336 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015215.1 +1 validated p.L1326I 1.000 61 0% 113 32.7% 0 - benign(0.001) tolerated(0.12) neutral(0.261) NULL PER3 8863 genome.wustl.edu 37 1 7886575 7886575 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016831.1 +1 reviewed p.L657 0.008 111 0% 176 34.7% 3 0% - - - NULL PER3 8863 genome.wustl.edu 37 1 7890144 7890144 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016831.1 +1 reviewed p.S1037F 0.004 165 0% 240 28.3% 2 0% possibly_damaging(0.928) deleterious(0.04) deleterious(0.724) NULL TNFRSF9 3604 genome.wustl.edu 37 1 7993307 7993307 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001561.4 -1 reviewed p.A198 0.000 58 0% 195 36.4% 1 0% - - - NULL TNFRSF9 3604 genome.wustl.edu 37 1 7998365 7998365 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001561.4 -1 reviewed p.C78 0.020 93 0% 178 30.9% 0 - - - - HMMPfam_TNFR_c6,HMMSmart_TNFR,PatternScan_TNFR_NGFR_1,superfamily_SSF57586 SLC45A1 50651 genome.wustl.edu 37 1 8399751 8399751 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080397.1 +1 provisional p.S658I 0.996 111 0% 205 31.7% 0 - probably_damaging(0.956) tolerated(0.25) neutral(0.436) superfamily_MFS general substrate transporter RERE 473 genome.wustl.edu 37 1 8557479 8557479 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001042681.1 -1 reviewed p.Y330 1.000 110 0% 304 27.6% 17 17.6% - - - HMMPfam_ELM2 H6PD 9563 genome.wustl.edu 37 1 9323983 9323983 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004285.3 +1 reviewed p.E477D 1.000 51 0% 93 32.3% 4 25% benign(0.351) tolerated(1) neutral(0.111) superfamily_SSF55347 C1orf200 644997 genome.wustl.edu 37 1 9714616 9714616 + RNA SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NR_027045.1 -1 validated NULL 0.974 10 0% 23 26.1% 0 - - - - - PIK3CD 5293 genome.wustl.edu 37 1 9778942 9778942 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005026.3 +1 validated p.A404V 0.996 54 0% 53 34% 0 - possibly_damaging(0.659) tolerated(0.16) neutral(0.292) HMMPfam_PI3K_C2,HMMSmart_PI3K_C2,superfamily_C2_CaLB NMNAT1 64802 genome.wustl.edu 37 1 10032143 10032143 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022787.3 +1 provisional p.S4 0.009 102 0% 303 35.6% 4 50% - - - NULL UBE4B 10277 genome.wustl.edu 37 1 10161233 10161233 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001105562.1 +1 reviewed p.K139Q 1.000 247 0% 565 31.5% 12 33.3% benign(0.071) tolerated(0.28) neutral(0.036) NULL UBE4B 10277 genome.wustl.edu 37 1 10205065 10205065 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001105562.1 +1 reviewed p.E811K 1.000 96 0% 121 38% 15 46.6% benign(0.424) tolerated(0.17) neutral(0.197) HMMPfam_Ufd2P_core KIF1B 23095 genome.wustl.edu 37 1 10402128 10402128 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015074.3 +1 reviewed p.E1132D 1.000 201 0.5% 349 26.1% 0 - possibly_damaging(0.474) tolerated(0.05) deleterious(0.502) NULL KIF1B 23095 genome.wustl.edu 37 1 10425623 10425623 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015074.3 +1 reviewed p.A1511T 1.000 136 0% 255 38.8% 6 33.3% benign(0.004) tolerated(0.57) neutral(0.006) NULL KIF1B 23095 genome.wustl.edu 37 1 10436636 10436636 + Silent SNP G G A rs188387287 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015074.3 +1 reviewed p.S1768 0.591 94 0% 173 30.6% 5 40% - - - NULL APITD1 378708 genome.wustl.edu 37 1 10490613 10490613 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198544.2 +1 reviewed p.F13L 0.051 52 0% 77 37.7% 3 33.3% benign(0.427) tolerated(0.49) neutral(0.150) NULL MTOR 2475 genome.wustl.edu 37 1 11169375 11169375 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004958.3 -1 reviewed p.I2500M 0.859 216 0% 377 37.9% 36 41.6% benign(0.429) deleterious(0) deleterious(0.584) NULL MTOR 2475 genome.wustl.edu 37 1 11313928 11313928 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004958.3 -1 reviewed p.E270K 1.000 181 0% 361 31% 16 68.7% possibly_damaging(0.585) deleterious(0) deleterious(0.646) superfamily_ARM-type_fold MTOR 2475 genome.wustl.edu 37 1 11317122 11317122 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004958.3 -1 reviewed p.E124D 1.000 68 0% 154 35.1% 8 62.5% benign(0.095) tolerated(0.27) neutral(0.041) superfamily_ARM-type_fold PTCHD2 57540 genome.wustl.edu 37 1 11562051 11562051 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020780.1 +1 validated p.S334 0.995 38 0% 47 29.8% 1 0% - - - HMMPfam_Patched PTCHD2 57540 genome.wustl.edu 37 1 11562865 11562865 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020780.1 +1 validated p.Y409* 0.998 134 0% 168 37.5% 0 - - - - HMMPfam_Patched PTCHD2 57540 genome.wustl.edu 37 1 11584048 11584048 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020780.1 +1 validated p.S804 0.993 49 0% 43 25.6% 0 - - - - HMMPfam_Patched FBXO44 93611 genome.wustl.edu 37 1 11715946 11715946 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001014765.1 +1 reviewed p.F18L 0.576 42 0% 62 37.1% 3 0% possibly_damaging(0.543) tolerated(0.49) neutral(0.195) HMMPfam_F-box,HMMSmart_SM00256,superfamily_F-box domain AGTRAP 57085 genome.wustl.edu 37 1 11806168 11806168 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000476512 +1 known p.L62 0.000 141 0% 239 35.1% 0 - - - - NULL MTHFR 4524 genome.wustl.edu 37 1 11861298 11861298 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005957.4 -1 reviewed p.R132H 0.019 80 0% 118 39.8% 7 14.2% benign(0) tolerated(0.06) neutral(0.323) HMMPfam_MTHFR,superfamily_FAD-linked oxidoreductase MFN2 9927 genome.wustl.edu 37 1 12064093 12064093 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001127660.1 +1 reviewed p.K402T 0.929 82 0% 197 31.5% 21 47.6% benign(0) tolerated(0.15) neutral(0.241) NULL AADACL4 343066 genome.wustl.edu 37 1 12711311 12711311 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001013630.1 +1 provisional p.R113Q 0.372 87 0% 133 41.4% 0 - probably_damaging(0.997) tolerated(0.09) deleterious(0.762) superfamily_SSF53474 PRAMEF12 390999 genome.wustl.edu 37 1 12835950 12835950 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080830.1 +1 provisional p.Q184H 0.000 305 0% 461 36.4% 0 - possibly_damaging(0.795) deleterious(0.03) deleterious(0.663) superfamily_SSF52047 PRAMEF1 65121 genome.wustl.edu 37 1 12854476 12854476 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_023013.1 +1 provisional p.L234I 0.001 338 0% 547 13.5% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_SSF52047 PRAMEF2 65122 genome.wustl.edu 37 1 12920113 12920113 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_023014.1 +1 provisional p.E285* 0.012 108 0% 177 33.3% 0 - - - - superfamily_SSF52047 PRAMEF4 400735 genome.wustl.edu 37 1 12939574 12939574 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001009611.2 -1 validated p.L410V 0.001 410 0.2% 701 12.1% 0 - benign(0.014) tolerated(0.07) neutral(0.320) superfamily_SSF52047 PRAMEF10 343071 genome.wustl.edu 37 1 12954493 12954493 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001039361.3 -1 validated p.L264I 0.009 117 0% 223 35% 0 - probably_damaging(0.996) tolerated(0.21) deleterious(0.506) superfamily_SSF52047 LOC440563 440563 genome.wustl.edu 37 1 13183849 13183849 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001136561.2 -1 validated p.K8N 1.000 153 0% 294 26.5% 0 - - - - NULL LOC645359 645359 genome.wustl.edu 37 1 13219480 13219480 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_928401.3 -1 model p.R49M 0.000 114 0% 175 25.1% 0 - benign(0.002) tolerated(0.11) neutral(0.272) NULL PRAMEF17 391004 genome.wustl.edu 37 1 13717065 13717065 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001099851.1 +1 provisional p.K184N 0.001 108 0% 236 32.2% 0 - probably_damaging(0.96) deleterious(0.04) deleterious(0.752) superfamily_RNI-like PRDM2 7799 genome.wustl.edu 37 1 14106823 14106823 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012231.4 +1 reviewed p.E845K 1.000 81 0% 124 33.1% 7 42.8% unknown(0) deleterious(0.01) - NULL PRDM2 7799 genome.wustl.edu 37 1 14108140 14108140 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012231.4 +1 reviewed p.D1284Y 1.000 43 0% 43 20.9% 11 54.5% probably_damaging(0.996) deleterious(0.02) deleterious(0.845) NULL PRDM2 7799 genome.wustl.edu 37 1 14108531 14108531 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012231.4 +1 reviewed p.S1414L 0.251 66 0% 125 36.8% 14 21.4% probably_damaging(0.962) tolerated(0.1) deleterious(0.692) NULL FHAD1 114827 genome.wustl.edu 37 1 15578288 15578288 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_052929.1 +1 provisional p.A3V 1.000 75 0% 141 27.7% 0 - probably_damaging(0.98) deleterious(0.04) deleterious(0.773) NULL FHAD1 114827 genome.wustl.edu 37 1 15578370 15578370 + Missense_Mutation SNP A A T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_052929.1 +1 provisional p.L30F 0.993 88 0% 161 28.6% 1 100% possibly_damaging(0.839) deleterious(0.04) deleterious(0.669) HMMPfam_FHA,HMMSmart_SM00240,superfamily_SMAD/FHA domain FHAD1 114827 genome.wustl.edu 37 1 15627898 15627898 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_052929.1 +1 provisional p.I292 0.000 59 0% 92 35.9% 1 0% - - - NULL FHAD1 114827 genome.wustl.edu 37 1 15701109 15701109 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_052929.1 +1 provisional p.E1165K 0.984 56 0% 82 43.9% 1 0% probably_damaging(0.999) tolerated(0.08) deleterious(0.790) NULL CTRC 11330 genome.wustl.edu 37 1 15772173 15772173 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007272.2 +1 reviewed p.R241W 0.000 60 0% 55 52.7% 1 100% benign(0.001) tolerated(0.18) neutral(0.056) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases CASP9 842 genome.wustl.edu 37 1 15844781 15844781 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001229.2 -1 reviewed p.G81D 1.000 74 0% 119 27.7% 14 71.4% unknown(0) tolerated(0.06) - HMMPfam_CARD,HMMSmart_SM00114,superfamily_DEATH domain DNAJC16 23341 genome.wustl.edu 37 1 15863152 15863152 + Silent SNP C C T rs146729141 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015291.2 +1 provisional p.D139 1.000 166 0% 255 31.4% 0 - - - - superfamily_Thioredoxin-like AGMAT 79814 genome.wustl.edu 37 1 15905457 15905457 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024758.3 -1 validated p.R206H 1.000 56 0% 92 27.2% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Arginase,superfamily_SSF52768 SPEN 23013 genome.wustl.edu 37 1 16254623 16254623 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015001.2 +1 reviewed p.R630C 1.000 88 0% 158 32.3% 2 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL SPEN 23013 genome.wustl.edu 37 1 16257322 16257322 + Silent SNP T T A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015001.2 +1 reviewed p.R1529 0.948 166 0% 233 32.2% 5 80% - - - NULL SPEN 23013 genome.wustl.edu 37 1 16261486 16261486 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015001.2 +1 reviewed p.L2917 0.279 53 0% 97 38.1% 22 31.8% - - - NULL CLCNKA 1187 genome.wustl.edu 37 1 16354380 16354380 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004070.3 +1 reviewed p.I282 1.000 557 0% 800 28.7% 0 - - - - HMMPfam_Voltage_CLC,superfamily_Cl-channel_core CLCNKB 1188 genome.wustl.edu 37 1 16372082 16372082 + Missense_Mutation SNP T T A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000085.3 +1 reviewed p.F44I 0.996 155 0% 195 30.8% 0 - probably_damaging(0.961) tolerated(0.08) deleterious(0.704) superfamily_Clc chloride channel ARHGEF19 128272 genome.wustl.edu 37 1 16534579 16534579 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153213.3 -1 provisional p.R185Q 0.666 56 0% 59 33.9% 7 14.2% benign(0.169) tolerated(0.14) neutral(0.265) NULL FBXO42 54455 genome.wustl.edu 37 1 16577461 16577461 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018994.1 -1 provisional p.R620C 1.000 81 0% 140 32.9% 41 43.9% probably_damaging(1) deleterious(0) deleterious(0.945) NULL NECAP2 55707 genome.wustl.edu 37 1 16770193 16770193 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145277.1 +1 reviewed p.Q53H 1.000 67 0% 123 36.6% 34 35.2% benign(0.133) deleterious(0.01) neutral(0.417) HMMPfam_DUF1681 CROCC 9696 genome.wustl.edu 37 1 17281813 17281813 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014675.3 +1 validated p.E1158* 1.000 10 0% 14 35.7% 3 33.3% - - - NULL PADI2 11240 genome.wustl.edu 37 1 17395725 17395725 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007365.2 -1 reviewed p.F604 0.995 57 0% 138 31.2% 0 - - - - HMMPfam_PAD,superfamily_SSF55909 PADI1 29943 genome.wustl.edu 37 1 17566247 17566247 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013358.2 +1 reviewed p.R534K 0.701 111 0% 185 34.1% 1 0% benign(0) tolerated(0.91) - HMMPfam_PAD,superfamily_Pentein PADI4 23569 genome.wustl.edu 37 1 17682899 17682899 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012387.2 +1 reviewed p.F501L 0.997 44 0% 66 28.8% 0 - benign(0.31) tolerated(0.34) neutral(0.119) HMMPfam_PAD,superfamily_Pentein PADI4 23569 genome.wustl.edu 37 1 17690174 17690174 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012387.2 +1 reviewed p.R639K 0.000 46 0% 71 35.2% 0 - benign(0.002) tolerated(0.33) neutral(0.024) HMMPfam_PAD,superfamily_Pentein ACTL8 81569 genome.wustl.edu 37 1 18149705 18149705 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030812.2 +1 validated p.E68K 0.972 78 0% 88 33% 0 - benign(0.028) tolerated(0.08) neutral(0.301) HMMPfam_Actin,HMMSmart_ACTIN,superfamily_SSF53067 IGSF21 84966 genome.wustl.edu 37 1 18618402 18618402 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032880.3 +1 validated p.D76N 1.000 60 0% 71 39.4% 1 0% probably_damaging(0.999) tolerated(0.26) deleterious(0.524) HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 MIR1290 100302276 genome.wustl.edu 37 1 19223618 19223618 + RNA SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000408735 -1 known NULL 0.003 47 0% 94 36.2% 0 - - - - - UBR4 23352 genome.wustl.edu 37 1 19510611 19510611 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020765.2 -1 validated p.R666Q 1.000 185 0% 297 34.7% 1 0% probably_damaging(0.995) tolerated(0.06) deleterious(0.780) NULL UBR4 23352 genome.wustl.edu 37 1 19518683 19518683 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020765.2 -1 validated p.G465W 1.000 43 0% 45 44.4% 2 50% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL KIAA0090 23065 genome.wustl.edu 37 1 19559253 19559253 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000375197 -1 known p.E283K 1.000 133 0% 259 31.7% 25 32% - - - NULL KIAA0090 23065 genome.wustl.edu 37 1 19571414 19571414 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015047.1 -1 predicted p.R69Q 1.000 131 0% 239 33.5% 18 44.4% probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_Quinoprotein alcohol dehydrogenase-like UBXN10 127733 genome.wustl.edu 37 1 20517824 20517824 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152376.3 +1 provisional p.S257Y 1.000 55 0% 69 39.1% 8 37.5% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMSmart_SM00166,superfamily_Ubiquitin-like VWA5B1 127731 genome.wustl.edu 37 1 20680676 20680676 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001039500.2 +1 validated p.R1190C 1.000 24 0% 29 44.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL PINK1 65018 genome.wustl.edu 37 1 20975574 20975574 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032409.2 +1 reviewed p.I446 1.000 84 0% 115 35.7% 97 31.9% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase PINK1 65018 genome.wustl.edu 37 1 20977076 20977076 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032409.2 +1 reviewed p.E546D 1.000 59 0% 145 31.7% 125 24.8% benign(0.043) tolerated(0.41) neutral(0.017) NULL KIF17 57576 genome.wustl.edu 37 1 21009301 21009301 + Missense_Mutation SNP G G A rs186978787 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020816.2 -1 validated p.R770C 1.000 82 0% 117 34.2% 1 0% possibly_damaging(0.823) deleterious(0) deleterious(0.756) NULL HP1BP3 50809 genome.wustl.edu 37 1 21106377 21106377 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016287.3 -1 validated p.R42C 1.000 214 0% 392 27.3% 25 16% unknown(0) - - NULL EIF4G3 8672 genome.wustl.edu 37 1 21188764 21188764 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003760.3 -1 validated p.S967Y 1.000 229 0% 331 31.1% 12 16.6% probably_damaging(0.979) deleterious(0) deleterious(0.867) HMMPfam_MIF4G,HMMSmart_SM00543,superfamily_ARM repeat EIF4G3 8672 genome.wustl.edu 37 1 21205995 21205995 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003760.3 -1 validated p.R759* 1.000 107 0% 127 26.8% 4 25% - - - HMMPfam_MIF4G,HMMSmart_SM00543,superfamily_ARM repeat EIF4G3 8672 genome.wustl.edu 37 1 21296080 21296080 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003760.3 -1 validated p.R145W 1.000 236 0% 357 31.4% 8 37.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ECE1 1889 genome.wustl.edu 37 1 21546454 21546454 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000436918 -1 known p.L197M 1.000 128 0% 276 12.7% 28 3.5% - - - "HMMPfam_Peptidase_M13,superfamily_Metalloproteases (""zincins"") catalytic domain" ECE1 1889 genome.wustl.edu 37 1 21551890 21551890 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000436918 -1 known p.E91* 1.000 97 0% 190 26.3% 28 21.4% benign(0.049) tolerated(1) neutral(0.003) "HMMPfam_Peptidase_M13,superfamily_Metalloproteases (""zincins"") catalytic domain" RAP1GAP 5909 genome.wustl.edu 37 1 21928224 21928224 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145658.1 -1 validated p.E599D 1.000 85 0% 163 29.4% 6 0% benign(0.013) tolerated(0.19) neutral(0.050) NULL USP48 84196 genome.wustl.edu 37 1 22032230 22032230 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032236.5 -1 reviewed p.D792Y 1.000 77 0% 69 17.4% 9 44.4% probably_damaging(0.986) deleterious(0) deleterious(0.879) NULL USP48 84196 genome.wustl.edu 37 1 22078089 22078089 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032236.5 -1 reviewed p.E229* 1.000 112 0% 192 29.7% 3 0% - - - HMMPfam_UCH,superfamily_Cysteine proteinases HSPG2 3339 genome.wustl.edu 37 1 22207303 22207303 + Missense_Mutation SNP C C T rs189089389 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000374695 -1 known p.R615H 1.000 26 0% 27 25.9% 5 20% benign(0.001) tolerated(0.15) neutral(0.241) HMMPfam_Laminin_B,HMMSmart_SM00281 HSPG2 3339 genome.wustl.edu 37 1 22216636 22216636 + Splice_Site SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000374695 -1 known e6-2 0.995 138 0% 227 37% 0 - - - - - CDC42 998 genome.wustl.edu 37 1 22405198 22405198 + Splice_Site SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000421089 +1 known e2-1 1.000 42 0% 60 21.7% 0 - - - - - CDC42 998 genome.wustl.edu 37 1 22412939 22412939 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001039802.1 +1 reviewed p.E62D 1.000 347 0% 369 30.4% 80 47.5% possibly_damaging(0.441) deleterious(0) deleterious(0.589) HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases WNT4 54361 genome.wustl.edu 37 1 22446886 22446886 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030761.4 -1 reviewed p.F238S 0.998 41 0% 46 34.8% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_wnt,HMMSmart_WNT1 ZBTB40 9923 genome.wustl.edu 37 1 22832590 22832590 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001083621.1 +1 validated p.N406H 0.991 151 0% 150 33.3% 4 50% possibly_damaging(0.491) deleterious(0) deleterious(0.608) NULL EPHA8 2046 genome.wustl.edu 37 1 22919851 22919851 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020526.3 +1 reviewed p.R450W 0.987 22 0% 31 35.5% 0 - probably_damaging(0.967) tolerated(0.11) deleterious(0.680) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like EPHA8 2046 genome.wustl.edu 37 1 22924314 22924314 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020526.3 +1 reviewed p.D692 1.000 41 0% 46 19.6% 0 - - - - HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like EPHA8 2046 genome.wustl.edu 37 1 22925489 22925489 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020526.3 +1 reviewed p.F779 0.985 57 0% 54 29.6% 0 - - - - HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like C1QA 712 genome.wustl.edu 37 1 22965562 22965562 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015991.2 +1 reviewed p.D134N 0.999 53 0% 58 39.7% 266 0% benign(0.002) tolerated(0.76) neutral(0.001) HMMPfam_C1q,HMMSmart_SM00110,superfamily_TNF-like KDM1A 23028 genome.wustl.edu 37 1 23406096 23406096 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015013.3 +1 reviewed p.F678 0.164 595 0% 818 34.5% 192 37.5% - - - HMMPfam_Amino_oxidase,superfamily_FAD/NAD(P)-binding domain,superfamily_FAD-linked reductases C-terminal domain LUZP1 7798 genome.wustl.edu 37 1 23417828 23417828 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142546.1 -1 reviewed p.R976Q 0.238 171 0% 202 24.3% 4 25% benign(0.018) tolerated(0.25) neutral(0.037) NULL LUZP1 7798 genome.wustl.edu 37 1 23419111 23419111 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142546.1 -1 reviewed p.N548 0.004 127 0% 200 36% 6 33.3% - - - NULL HTR1D 3352 genome.wustl.edu 37 1 23520425 23520425 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000864.4 -1 validated p.I96 0.001 228 0% 595 34.8% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 TCEA3 6920 genome.wustl.edu 37 1 23720419 23720419 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003196.1 -1 validated p.L258F 1.000 111 0% 164 35.4% 10 10% benign(0.381) deleterious(0.01) deleterious(0.527) HMMPfam_TFIIS_M,superfamily_Elongation factor TFIIS domain 2,HMMSmart_SM00510 ASAP3 55616 genome.wustl.edu 37 1 23758216 23758216 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017707.3 -1 reviewed p.S840L 0.000 108 0% 174 38.5% 10 30% benign(0.045) deleterious(0.03) neutral(0.367) NULL TCEB3 6924 genome.wustl.edu 37 1 24075515 24075515 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003198.2 +1 reviewed p.L53S 0.993 226 0% 324 28.4% 16 37.5% possibly_damaging(0.664) tolerated(0.11) deleterious(0.506) HMMSmart_SM00509,HMMPfam_TFIIS,superfamily_Conserved domain common to transcription factors TFIIS elongin A CRSP70 MYOM3 127294 genome.wustl.edu 37 1 24388446 24388446 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152372.3 -1 validated p.L1308 0.998 171 0% 266 29.3% 1 0% - - - superfamily_Immunoglobulin MYOM3 127294 genome.wustl.edu 37 1 24389663 24389663 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152372.3 -1 validated p.K1241N 0.972 100 0% 124 38.7% 0 - benign(0.001) tolerated(0.33) neutral(0.024) superfamily_Immunoglobulin IL22RA1 58985 genome.wustl.edu 37 1 24447508 24447508 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021258.2 -1 reviewed p.I504 0.962 137 0% 311 31.8% 0 - - - - NULL IL28RA 163702 genome.wustl.edu 37 1 24486060 24486060 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_170743.2 -1 reviewed p.E192K 0.027 183 0% 355 37.5% 5 20% benign(0.058) tolerated(1) neutral(0.004) superfamily_Fibronectin type III RCAN3 11123 genome.wustl.edu 37 1 24857725 24857725 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013441.2 +1 validated p.L71 0.969 67 0% 122 30.3% 7 57.1% - - - HMMPfam_Calcipressin SRRM1 10250 genome.wustl.edu 37 1 24995707 24995707 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005839.3 +1 validated p.K611N 1.000 140 0% 351 35.3% 31 35.4% unknown(0) tolerated(0.13) - NULL RHD 6007 genome.wustl.edu 37 1 25627476 25627476 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016124.3 +1 reviewed p.A176T 0.819 256 0% 373 33.5% 0 - benign(0.006) deleterious(0.01) neutral(0.406) HMMPfam_Ammonium_transp,superfamily_Ammonium ransporter (Pfam 00909) TMEM57 55219 genome.wustl.edu 37 1 25785230 25785230 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018202.4 +1 validated p.R334Q 1.000 70 0% 110 34.5% 17 17.6% probably_damaging(0.99) tolerated(0.17) deleterious(0.500) HMMPfam_Macoilin TMEM57 55219 genome.wustl.edu 37 1 25812189 25812189 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018202.4 +1 validated p.R467* 1.000 150 0% 270 33.3% 34 14.7% - - - superfamily_Prefoldin,HMMPfam_Macoilin SEPN1 57190 genome.wustl.edu 37 1 26138247 26138247 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000354177 +1 known p.I352 0.915 60 0% 91 39.6% 32 28.1% - - - NULL SEPN1 57190 genome.wustl.edu 37 1 26139207 26139207 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000354177 +1 known p.F403 0.928 48 0% 63 36.5% 52 25% - - - NULL EXTL1 2134 genome.wustl.edu 37 1 26358896 26358896 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004455.2 +1 reviewed p.L451I 1.000 66 0% 97 24.7% 0 - probably_damaging(0.994) deleterious(0.03) deleterious(0.817) HMMPfam_Glyco_transf_64,superfamily_SSF53448 CNKSR1 10256 genome.wustl.edu 37 1 26508390 26508390 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006314.2 +1 reviewed p.E145D 1.000 126 0% 258 29.1% 17 64.7% benign(0.013) tolerated(0.06) neutral(0.323) HMMPfam_CRIC_ras_sig SH3BGRL3 83442 genome.wustl.edu 37 1 26607301 26607301 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031286.3 +1 validated p.R32C 1.000 40 0% 91 23.1% 450 26.2% benign(0.02) tolerated(0.12) neutral(0.262) HMMPfam_SH3BGR,superfamily_Thioredoxin-like AIM1L 55057 genome.wustl.edu 37 1 26664037 26664037 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000308182 -1 known p.S277L 0.147 47 0% 80 37.5% 0 - - - - HMMPfam_Crystall,HMMSmart_SM00247,superfamily_gamma-Crystallin-like AIM1L 55057 genome.wustl.edu 37 1 26664854 26664854 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000308182 -1 known p.S218N 1.000 96 0% 202 30.7% 0 - - - - HMMPfam_Crystall,HMMSmart_SM00247,superfamily_gamma-Crystallin-like ZNF683 257101 genome.wustl.edu 37 1 26691475 26691475 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001114759.1 -1 validated p.L188I 0.000 172 0% 464 35.1% 1 0% possibly_damaging(0.602) tolerated(0.5) neutral(0.218) NULL DHDDS 79947 genome.wustl.edu 37 1 26786593 26786593 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000416052 +1 known p.R118* 1.000 184 0% 363 12.1% 15 6.6% - - - HMMPfam_Prenyltransf,superfamily_Undecaprenyl diphosphate synthase HMGN2 3151 genome.wustl.edu 37 1 26800601 26800601 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005517.3 +1 validated p.P39H 1.000 227 0% 366 28.4% 150 36% probably_damaging(0.978) deleterious(0.02) deleterious(0.803) HMMPfam_HMG14_17,HMMSmart_HMG17 ARID1A 8289 genome.wustl.edu 37 1 27092752 27092752 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006015.4 +1 reviewed p.G925* 1.000 153 0% 271 33.6% 13 7.6% - - - NULL ARID1A 8289 genome.wustl.edu 37 1 27105527 27105527 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006015.4 +1 reviewed p.L1713P 1.000 79 0% 156 41.7% 23 26% possibly_damaging(0.868) deleterious(0) deleterious(0.782) NULL ARID1A 8289 genome.wustl.edu 37 1 27105679 27105679 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006015.4 +1 reviewed p.E1764* 0.129 60 0% 126 37.3% 22 81.8% - - - NULL FAM46B 115572 genome.wustl.edu 37 1 27332961 27332961 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_052943.3 -1 validated p.Y251C 0.999 35 0% 79 32.9% 3 66.6% probably_damaging(0.97) deleterious(0) deleterious(0.857) HMMPfam_DUF1693 SLC9A1 6548 genome.wustl.edu 37 1 27440746 27440746 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000374084 -1 known p.R129C 0.995 40 0% 78 19.2% 16 25% unknown(0) - - NULL WDTC1 23038 genome.wustl.edu 37 1 27631648 27631648 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015023.3 +1 validated p.I599 0.206 46 0% 70 27.1% 63 46% unknown(0) deleterious(0) - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 TMEM222 84065 genome.wustl.edu 37 1 27657274 27657274 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000464813 +1 known p.R59C 0.324 151 0% 226 34.5% 32 15.6% - - - HMMPfam_DUF778 ATPIF1 93974 genome.wustl.edu 37 1 28564487 28564487 + Nonstop_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016311.3 +1 reviewed p.*107E 1.000 77 0% 165 37% 447 37.5% - - - NULL PHACTR4 65979 genome.wustl.edu 37 1 28800594 28800594 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_023923.3 +1 reviewed p.S461N 0.034 87 0% 154 34.4% 10 20% benign(0) tolerated(0.5) neutral(0.010) NULL EPB41 2035 genome.wustl.edu 37 1 29314380 29314380 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_203343.2 +1 reviewed p.S144Y 0.972 70 0% 150 33.3% 1 0% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL SRSF4 6429 genome.wustl.edu 37 1 29476636 29476636 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005626.4 -1 reviewed p.S216Y 1.000 229 0% 331 34.7% 39 23% unknown(0) tolerated(0.07) - NULL PTPRU 10076 genome.wustl.edu 37 1 29638248 29638248 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005704.3 +1 reviewed p.V1027M 0.998 67 0% 122 31.1% 65 43% probably_damaging(1) tolerated(0.05) deleterious(0.845) HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II LAPTM5 7805 genome.wustl.edu 37 1 31210514 31210514 + Missense_Mutation SNP A A T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006762.2 -1 reviewed p.H181Q 0.000 146 0% 283 34.6% 87 0% benign(0.001) tolerated(0.35) neutral(0.021) HMMPfam_Mtp LAPTM5 7805 genome.wustl.edu 37 1 31215370 31215370 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006762.2 -1 reviewed p.E38D 1.000 78 0% 92 35.9% 59 0% probably_damaging(0.992) deleterious(0.02) deleterious(0.831) HMMPfam_Mtp COL16A1 1307 genome.wustl.edu 37 1 32163669 32163669 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001856.3 -1 reviewed p.D165E 1.000 27 0% 58 32.8% 12 0% unknown(0) deleterious(0) - HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases BAI2 576 genome.wustl.edu 37 1 32193133 32193133 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001703.2 -1 reviewed p.S1549Y 0.992 48 0% 54 31.5% 7 28.5% possibly_damaging(0.855) deleterious(0.02) deleterious(0.713) NULL SPOCD1 90853 genome.wustl.edu 37 1 32256606 32256606 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144569.4 -1 provisional p.I1083 0.000 19 0% 25 48% 10 0% - - - NULL SPOCD1 90853 genome.wustl.edu 37 1 32256690 32256690 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000452755 -1 known p.E340K 0.000 24 0% 21 33.3% 7 0% benign(0.014) - - HMMPfam_SPOC KHDRBS1 10657 genome.wustl.edu 37 1 32498920 32498920 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006559.1 +1 provisional p.K252N 1.000 133 0% 247 38.5% 107 39.2% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMSmart_SM00322,superfamily_Eukaryotic type KH-domain (KH-domain type I) RBBP4 5928 genome.wustl.edu 37 1 33134712 33134712 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005610.2 +1 reviewed p.A247V 1.000 76 0% 200 36% 159 43.3% possibly_damaging(0.896) deleterious(0) deleterious(0.798) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 YARS 8565 genome.wustl.edu 37 1 33252604 33252604 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003680.3 -1 reviewed p.G253* 1.000 122 0% 313 33.2% 53 3.7% - - - HMMPfam_tRNA-synt_1b,superfamily_Nucleotidylyl transferase S100PBP 64766 genome.wustl.edu 37 1 33291759 33291759 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022753.2 +1 validated p.D20G 0.765 147 0% 317 33.1% 4 0% possibly_damaging(0.903) deleterious(0.05) deleterious(0.704) NULL S100PBP 64766 genome.wustl.edu 37 1 33292123 33292123 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022753.2 +1 validated p.K141N 0.995 32 0% 57 38.6% 2 50% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL HPCA 3208 genome.wustl.edu 37 1 33354552 33354552 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002143.2 +1 reviewed p.E18A 1.000 73 0% 78 42.3% 0 - benign(0) tolerated(0.18) neutral(0.056) superfamily_EF-hand PHC2 1912 genome.wustl.edu 37 1 33799730 33799730 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198040.2 -1 reviewed p.I573 1.000 143 0% 172 37.2% 35 17.1% - - - NULL PHC2 1912 genome.wustl.edu 37 1 33838014 33838014 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198040.2 -1 reviewed p.T70M 1.000 59 0% 57 26.3% 2 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ZSCAN20 7579 genome.wustl.edu 37 1 33960991 33960991 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145238.3 +1 validated p.K1016T 0.997 60 0% 95 27.4% 3 33.3% benign(0.108) deleterious(0.05) neutral(0.354) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZSCAN20 7579 genome.wustl.edu 37 1 33960999 33960999 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145238.3 +1 validated p.E1019K 0.957 56 0% 89 36% 2 0% benign(0.004) deleterious(0.03) neutral(0.364) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CSMD2 114784 genome.wustl.edu 37 1 34015859 34015859 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_052896.3 -1 validated p.I2801 0.153 61 0% 68 33.8% 0 - - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CSMD2 114784 genome.wustl.edu 37 1 34033349 34033349 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_052896.3 -1 validated p.P2719T 1.000 140 0% 226 27% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CSMD2 114784 genome.wustl.edu 37 1 34070949 34070949 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_052896.3 -1 validated p.G2157 0.991 168 0% 196 26.5% 0 - - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CSMD2 114784 genome.wustl.edu 37 1 34112357 34112357 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_052896.3 -1 validated p.F1515L 1.000 146 0% 169 33.7% 2 0% benign(0.045) deleterious(0.01) neutral(0.408) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CSMD2 114784 genome.wustl.edu 37 1 34204922 34204922 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_052896.3 -1 validated p.N689 0.265 45 0% 70 44.3% 0 - - - - superfamily_Spermadhesin CUB domain,superfamily_Complement control module/SCR domain CSMD2 114784 genome.wustl.edu 37 1 34276442 34276442 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_052896.3 -1 validated p.R410* 0.991 92 0% 94 39.4% 0 - - - - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain C1orf94 84970 genome.wustl.edu 37 1 34643432 34643432 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001134734.1 +1 validated p.Q14H 0.993 33 0% 37 32.4% 0 - unknown(0) deleterious(0) - NULL GJB5 2709 genome.wustl.edu 37 1 35223084 35223084 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005268.2 +1 provisional p.F51 0.394 208 0% 229 38% 1 0% - - - HMMPfam_Connexin,HMMSmart_CNX GJB4 127534 genome.wustl.edu 37 1 35227059 35227059 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153212.2 +1 reviewed p.F68L 1.000 125 0% 198 36.9% 0 - possibly_damaging(0.894) tolerated(0.11) deleterious(0.623) HMMPfam_Connexin,HMMSmart_SM00037 LOC100287174 100287174 genome.wustl.edu 37 1 35250612 35250612 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002342072.1 -1 model p.E208K 1.000 246 0% 410 33.7% 1 0% - - - NULL C1orf212 113444 genome.wustl.edu 37 1 35320903 35320903 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138428.5 -1 validated p.E127* 0.051 103 0% 157 35% 73 27.3% - - - NULL DLGAP3 58512 genome.wustl.edu 37 1 35333186 35333186 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080418.1 -1 provisional p.L843P 1.000 65 0% 169 27.8% 0 - probably_damaging(0.981) deleterious(0) deleterious(0.870) HMMPfam_GKAP ZMYM6 9204 genome.wustl.edu 37 1 35476603 35476603 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007167.3 -1 validated p.S366L 0.991 48 0% 105 29.5% 3 66.6% probably_damaging(0.989) deleterious(0.02) deleterious(0.823) NULL SFPQ 6421 genome.wustl.edu 37 1 35656995 35656995 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005066.2 -1 validated p.E322* 1.000 206 0% 345 29.3% 112 8.9% - - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD ZMYM4 9202 genome.wustl.edu 37 1 35852603 35852603 + Splice_Site SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005095.2 +1 validated e12-1 1.000 50 0% 71 36.6% 0 - - - - - KIAA0319L 79932 genome.wustl.edu 37 1 35925968 35925968 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024874.4 -1 reviewed p.K455N 1.000 356 0% 407 29.7% 10 40% probably_damaging(0.999) tolerated(0.2) deleterious(0.539) HMMSmart_SM00089,superfamily_PKD domain KIAA0319L 79932 genome.wustl.edu 37 1 35932241 35932241 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000431916 -1 known p.W219* 1.000 176 0% 219 32.4% 7 71.4% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TFAP2E 339488 genome.wustl.edu 37 1 36060209 36060209 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178548.3 +1 validated p.L421I 1.000 103 0% 147 32% 0 - benign(0.053) tolerated(0.23) neutral(0.045) HMMPfam_TF_AP-2 CLSPN 63967 genome.wustl.edu 37 1 36230882 36230882 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022111.2 -1 reviewed p.A24T 0.369 179 0% 337 25.5% 2 50% possibly_damaging(0.507) tolerated(0.34) neutral(0.193) NULL EIF2C4 192670 genome.wustl.edu 37 1 36291652 36291652 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017629.2 +1 reviewed p.E251* 1.000 102 0% 316 26.9% 3 0% - - - HMMPfam_PAZ,superfamily_PAZ domain EIF2C3 192669 genome.wustl.edu 37 1 36439003 36439003 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024852.2 +1 reviewed p.F183L 1.000 113 0% 163 36.8% 4 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF1785 MRPS15 64960 genome.wustl.edu 37 1 36921490 36921490 + Silent SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031280.3 -1 reviewed p.R225 0.008 225 0% 514 28.4% 168 49.4% - - - NULL MRPS15 64960 genome.wustl.edu 37 1 36927691 36927691 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031280.3 -1 reviewed p.E83D 0.996 195 0% 430 35.6% 158 33.5% benign(0.016) tolerated(0.15) neutral(0.241) NULL CSF3R 1441 genome.wustl.edu 37 1 36933802 36933802 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_156039.2 -1 reviewed p.L533 1.000 47 0% 166 34.9% 2 0% - - - HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like CSF3R 1441 genome.wustl.edu 37 1 36934791 36934791 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_156039.2 -1 reviewed p.P514 0.225 214 0% 456 32.7% 1 0% - - - HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like GRIK3 2899 genome.wustl.edu 37 1 37315979 37315979 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000831.3 -1 reviewed p.A420V 0.993 124 0% 141 23.4% 0 - benign(0.016) tolerated(0.51) neutral(0.009) NULL MEAF6 64769 genome.wustl.edu 37 1 37967542 37967542 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022756.4 -1 provisional p.E132D 1.000 135 0% 229 35.8% 39 56.4% possibly_damaging(0.942) tolerated(0.19) neutral(0.436) NULL EPHA10 284656 genome.wustl.edu 37 1 38230678 38230678 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001099439.1 -1 validated p.L21I 0.972 19 0.000 9 0.778 0 - benign(0.35) tolerated(0.47) neutral(0.122) NULL MTF1 4520 genome.wustl.edu 37 1 38305664 38305664 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005955.2 -1 reviewed p.R192Q 1.000 158 0% 268 40.7% 4 25% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SF3A3 10946 genome.wustl.edu 37 1 38444717 38444717 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006802.2 -1 reviewed p.S257Y 1.000 68 0% 182 30.2% 33 24.2% probably_damaging(0.99) tolerated(0.18) deleterious(0.497) NULL GJA9 81025 genome.wustl.edu 37 1 39340512 39340512 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030772.3 -1 provisional p.R420Q 0.001 219 0% 369 37.7% 1 100% possibly_damaging(0.802) deleterious(0) deleterious(0.746) NULL RHBDL2 54933 genome.wustl.edu 37 1 39377088 39377088 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017821.3 -1 reviewed p.G138 0.999 93 0% 242 34.3% 0 - - - - HMMPfam_Rhomboid RHBDL2 54933 genome.wustl.edu 37 1 39384828 39384828 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017821.3 -1 reviewed p.E19D 0.000 271 0% 530 30.8% 0 - benign(0.002) tolerated(0.13) neutral(0.253) NULL NDUFS5 4725 genome.wustl.edu 37 1 39494585 39494585 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004552.2 +1 reviewed p.F63 0.000 95 0% 263 35% 1133 44.8% - - - HMMPfam_Ndufs5 MACF1 23499 genome.wustl.edu 37 1 39759288 39759288 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012090.3 +1 reviewed p.F722L 1.000 126 0% 202 27.2% 0 - possibly_damaging(0.756) tolerated(0.08) deleterious(0.579) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat MACF1 23499 genome.wustl.edu 37 1 39776600 39776600 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000372925 +1 known p.S205P 1.000 106 0% 159 39.6% 0 - - - - superfamily_Spectrin repeat MACF1 23499 genome.wustl.edu 37 1 39781299 39781299 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012090.3 +1 reviewed p.E1134* 1.000 170 0% 245 33.9% 0 - - - - superfamily_Spectrin repeat MACF1 23499 genome.wustl.edu 37 1 39788286 39788286 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012090.3 +1 reviewed p.E1351* 1.000 134 0% 112 31.2% 2 50% - - - HMMSmart_SM00150,superfamily_Spectrin repeat MACF1 23499 genome.wustl.edu 37 1 39797351 39797351 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033044.2 +1 reviewed p.K137N 1.000 135 0% 146 26% 0 - probably_damaging(0.998) - - HMMSmart_PLEC,superfamily_SSF75399 MACF1 23499 genome.wustl.edu 37 1 39799007 39799007 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033044.2 +1 reviewed p.I689 0.000 109 0% 182 33% 0 - - - - NULL MACF1 23499 genome.wustl.edu 37 1 39800941 39800941 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033044.2 +1 reviewed p.L1334R 0.000 79 0% 117 26.5% 2 0% possibly_damaging(0.509) - - NULL MACF1 23499 genome.wustl.edu 37 1 39801886 39801886 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033044.2 +1 reviewed p.D1649G 0.000 79 0% 138 39.9% 2 0% benign(0.006) - - NULL MACF1 23499 genome.wustl.edu 37 1 39823377 39823377 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033044.2 +1 reviewed p.R2359W 0.982 133 0% 226 35.4% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin MACF1 23499 genome.wustl.edu 37 1 39853232 39853232 + Nonsense_Mutation SNP G G T rs617422 TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000372925 +1 known p.E1957* 1.000 60 0% 100 29% 0 - benign(0.002) tolerated(0.14) neutral(0.249) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat KIAA0754 643314 genome.wustl.edu 37 1 39877677 39877677 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015038.1 +1 predicted p.R580 0.130 110 0% 177 36.2% 2 50% - - - NULL MACF1 23499 genome.wustl.edu 37 1 39893907 39893907 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033044.2 +1 reviewed p.F4024S 1.000 161 0% 195 32.8% 5 20% benign(0.001) tolerated(0.62) neutral(0.004) HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin HEYL 26508 genome.wustl.edu 37 1 40092513 40092513 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014571.3 -1 reviewed p.R218Q 0.374 66 0% 157 36.3% 9 0% probably_damaging(0.999) tolerated(0.19) deleterious(0.540) NULL HEYL 26508 genome.wustl.edu 37 1 40095920 40095920 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014571.3 -1 reviewed p.L98I 1.000 151 0% 237 33.3% 5 0% probably_damaging(0.993) deleterious(0.03) deleterious(0.815) HMMPfam_HLH,HMMSmart_HLH,superfamily_HLH_basic NT5C1A 84618 genome.wustl.edu 37 1 40124965 40124965 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032526.1 -1 provisional p.A312V 1.000 63 0% 79 34.2% 0 - probably_damaging(1) tolerated(1) deleterious(0.500) HMMPfam_5-nucleotidase MFSD2A 84879 genome.wustl.edu 37 1 40431188 40431188 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001136493.1 +1 validated p.E188K 1.000 142 0% 200 31.5% 17 47% possibly_damaging(0.659) deleterious(0.02) deleterious(0.616) superfamily_MFS general substrate transporter CAP1 10487 genome.wustl.edu 37 1 40531914 40531914 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001105530.1 +1 reviewed p.K184N 1.000 127 0% 200 29% 71 45% benign(0.083) deleterious(0.04) neutral(0.355) HMMPfam_CAP_N,superfamily_N-terminal domain of adenylylcyclase associated protein CAP RLF 6018 genome.wustl.edu 37 1 40668269 40668269 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012421.3 +1 validated p.E265* 1.000 92 0% 255 42.4% 1 0% - - - NULL RLF 6018 genome.wustl.edu 37 1 40701728 40701728 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012421.3 +1 validated p.R452* 1.000 83 0% 96 38.5% 3 66.6% - - - NULL RLF 6018 genome.wustl.edu 37 1 40704423 40704423 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012421.3 +1 validated p.R1350I 1.000 82 0% 180 31.1% 8 62.5% probably_damaging(0.99) tolerated(0.07) deleterious(0.760) NULL ZNF643 65243 genome.wustl.edu 37 1 40922962 40922962 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000431552 +1 known p.F27L 0.349 102 0% 156 25.6% 0 - benign(0.003) tolerated(0.65) neutral(0.003) NULL ZNF643 65243 genome.wustl.edu 37 1 40928264 40928264 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000411995 +1 known p.E176* 0.151 88 0% 164 32.3% 2 100% benign(0.026) tolerated(0.13) neutral(0.254) NULL ZNF643 65243 genome.wustl.edu 37 1 40928636 40928636 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000411995 +1 known p.E300* 1.000 106 0% 170 28.8% 2 50% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF642 339559 genome.wustl.edu 37 1 40961342 40961342 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198494.2 +1 validated p.L398F 0.999 76 0% 126 33.3% 4 75% probably_damaging(0.997) tolerated(0.11) deleterious(0.738) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF642 339559 genome.wustl.edu 37 1 40961575 40961575 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198494.2 +1 validated p.A475 0.993 81 0% 167 36.5% 5 40% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 LOC100128362 100128362 genome.wustl.edu 37 1 41404035 41404035 + Splice_Site SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002342077.1 -1 model e5-1 1.000 31 0% 48 35.4% 0 - - - - - CTPS 1503 genome.wustl.edu 37 1 41457481 41457481 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001905.2 +1 validated p.E228D 1.000 118 0% 231 30.3% 9 55.5% benign(0.001) tolerated(0.29) neutral(0.029) HMMPfam_CTP_synth_N,superfamily_SSF52540 HIVEP3 59269 genome.wustl.edu 37 1 41990470 41990470 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024503.3 -1 validated p.I1773 1.000 218 0% 303 32.7% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers HIVEP3 59269 genome.wustl.edu 37 1 42045804 42045804 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024503.3 -1 validated p.D1555 0.945 107 0% 145 30.3% 1 0% - - - NULL HIVEP3 59269 genome.wustl.edu 37 1 42047584 42047584 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024503.3 -1 validated p.P962L 0.336 62 0% 75 29.3% 1 0% benign(0) deleterious(0.03) neutral(0.364) NULL HIVEP3 59269 genome.wustl.edu 37 1 42048076 42048076 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024503.3 -1 validated p.S798Y 1.000 67 0% 60 31.7% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL HIVEP3 59269 genome.wustl.edu 37 1 42050292 42050292 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024503.3 -1 validated p.F59L 0.979 132 0% 148 33.1% 0 - probably_damaging(0.971) tolerated(0.45) neutral(0.425) NULL HIVEP3 59269 genome.wustl.edu 37 1 42050349 42050349 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024503.3 -1 validated p.S40 0.024 99 0% 106 38.7% 0 - - - - NULL FOXJ3 22887 genome.wustl.edu 37 1 42647693 42647693 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014947.3 -1 validated p.N550H 1.000 118 0.8% 278 33.8% 19 42.1% probably_damaging(0.965) deleterious(0.05) deleterious(0.752) NULL CCDC30 728621 genome.wustl.edu 37 1 43032078 43032078 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080850.2 +1 validated p.R263* 0.978 165 0% 220 29.5% 2 50% - - - NULL CCDC30 728621 genome.wustl.edu 37 1 43042696 43042696 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080850.2 +1 validated p.K287 0.999 114 0% 196 15.3% 3 0% - - - NULL WDR65 149465 genome.wustl.edu 37 1 43650971 43650971 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152498.3 +1 validated p.L305M 0.849 186 0% 292 37.3% 1 0% possibly_damaging(0.86) tolerated(0.22) neutral(0.374) superfamily_WD40_like SZT2 23334 genome.wustl.edu 37 1 43896402 43896402 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015284.2 +1 predicted p.S673 0.000 89 0% 101 45.5% 3 33.3% - - - NULL SZT2 23334 genome.wustl.edu 37 1 43911637 43911637 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015284.2 +1 predicted p.K2067N 0.963 82 0% 132 38.6% 8 12.5% probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL HYI 81888 genome.wustl.edu 37 1 43919158 43919158 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000372425 -1 known p.E70D 0.695 14 0% 17 47.1% 11 18.1% benign(0.001) tolerated(0.71) neutral(0.002) HMMPfam_AP_endonuc_2,superfamily_Xylose isomerase-like PTPRF 5792 genome.wustl.edu 37 1 44019259 44019259 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002840.3 +1 reviewed p.R63H 0.993 93 0% 192 40.1% 68 41.1% possibly_damaging(0.881) deleterious(0.03) deleterious(0.708) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin KDM4A 9682 genome.wustl.edu 37 1 44156616 44156616 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014663.2 +1 reviewed p.S713L 0.677 141 0% 237 34.6% 44 47.7% benign(0) tolerated(0.43) neutral(0.013) HMMSmart_SM00249 CCDC24 149473 genome.wustl.edu 37 1 44458225 44458225 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152499.1 +1 provisional p.S111 1.000 251 0% 472 33.5% 6 33.3% - - - NULL SLC6A9 6536 genome.wustl.edu 37 1 44475731 44475731 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_201649.2 -1 validated p.F148L 1.000 106 0% 227 27.8% 3 66.6% benign(0.002) tolerated(1) - HMMPfam_SNF DMAP1 55929 genome.wustl.edu 37 1 44684034 44684034 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001034023.1 +1 reviewed p.D149N 1.000 153 0% 219 31.5% 48 27% benign(0.022) tolerated(0.4) neutral(0.017) NULL ERI3 79033 genome.wustl.edu 37 1 44818534 44818534 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024066.1 -1 validated p.E67K 1.000 186 0% 250 30.8% 22 27.2% unknown(0) deleterious(0) - NULL RNF220 55182 genome.wustl.edu 37 1 45088413 45088413 + Splice_Site SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018150.2 +1 validated e3-1 1.000 125 0% 206 24.8% 0 - - - - - TMEM53 79639 genome.wustl.edu 37 1 45120404 45120404 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024587.2 -1 provisional p.E221K 0.653 83 0% 95 30.5% 10 20% benign(0) tolerated(1) - HMMPfam_DUF829,superfamily_alpha/beta-Hydrolases TMEM53 79639 genome.wustl.edu 37 1 45120782 45120782 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024587.2 -1 provisional p.E95K 1.000 27 0% 56 39.3% 12 50% probably_damaging(0.999) tolerated(0.82) deleterious(0.491) HMMPfam_DUF829,superfamily_alpha/beta-Hydrolases KIF2C 11004 genome.wustl.edu 37 1 45220446 45220446 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006845.3 +1 validated p.W230R 1.000 110 0% 248 32.3% 20 40% possibly_damaging(0.952) deleterious(0) deleterious(0.840) superfamily_P-loop containing nucleoside triphosphate hydrolases KIF2C 11004 genome.wustl.edu 37 1 45226020 45226020 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006845.3 +1 validated p.R479Q 1.000 78 0% 176 32.4% 34 44.1% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases PLK3 1263 genome.wustl.edu 37 1 45270018 45270018 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004073.2 +1 validated p.Q450H 1.000 87 0% 169 34.9% 15 33.3% benign(0.039) tolerated(0.09) neutral(0.298) superfamily_Polo-box domain EIF2B3 8891 genome.wustl.edu 37 1 45363050 45363050 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000439363 -1 known p.S32L 0.984 159 0% 211 29.4% 11 100% - - - NULL EIF2B3 8891 genome.wustl.edu 37 1 45392331 45392331 + Nonsense_Mutation SNP C C A rs112906939 TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020365.3 -1 reviewed p.E179* 1.000 152 0% 209 30.6% 20 10% - - - superfamily_Nucleotide-diphospho-sugar transferases HECTD3 79654 genome.wustl.edu 37 1 45469790 45469790 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024602.5 -1 validated p.F763 0.995 113 0% 187 34.2% 103 45.6% - - - HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain ZSWIM5 57643 genome.wustl.edu 37 1 45485813 45485813 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020883.1 -1 validated p.R874W 1.000 133 0% 242 31% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TESK2 10420 genome.wustl.edu 37 1 45810676 45810676 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007170.2 -1 reviewed p.L518F 0.002 128 0% 258 35.3% 4 25% benign(0.049) deleterious(0.02) neutral(0.386) NULL PRDX1 5052 genome.wustl.edu 37 1 45980634 45980634 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002574.2 -1 reviewed p.G98 0.978 169 0% 313 34.8% 1216 46.7% - - - HMMPfam_AhpC-TSA,superfamily_Thioredoxin-like IPP 3652 genome.wustl.edu 37 1 46193353 46193353 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005897.2 -1 reviewed p.R333Q 1.000 151 0% 267 34.5% 6 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain IPP 3652 genome.wustl.edu 37 1 46195400 46195400 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005897.2 -1 reviewed p.L256M 1.000 116 0% 176 30.1% 2 0% benign(0.266) tolerated(0.25) neutral(0.065) superfamily_Galactose oxidase central domain IPP 3652 genome.wustl.edu 37 1 46206708 46206708 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005897.2 -1 reviewed p.E197* 1.000 195 0% 455 32.3% 4 0% - - - HMMPfam_BACK MAST2 23139 genome.wustl.edu 37 1 46498307 46498307 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015112.2 +1 validated p.R1152C 1.000 85 0% 147 33.3% 35 45.7% benign(0.167) tolerated(0.14) neutral(0.265) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like POMGNT1 55624 genome.wustl.edu 37 1 46654953 46654953 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017739.3 -1 reviewed p.E658* 1.000 62 0% 137 38.7% 43 9.3% - - - NULL POMGNT1 55624 genome.wustl.edu 37 1 46663532 46663532 + RNA SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NR_024332.1 -1 reviewed NULL 1.000 45 0% 68 44.1% 6 50% - - - - RAD54L 8438 genome.wustl.edu 37 1 46724371 46724371 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142548.1 +1 reviewed p.R75Q 1.000 242 0% 444 29.1% 6 16.6% possibly_damaging(0.446) tolerated(0.3) neutral(0.174) NULL DMBX1 127343 genome.wustl.edu 37 1 46976618 46976618 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_147192.2 +1 reviewed p.K120N 1.000 14 0% 21 28.6% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like,PatternScan_HOMEOBOX_1 ATPAF1 64756 genome.wustl.edu 37 1 47101579 47101579 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022745.3 -1 reviewed p.E286* 1.000 159 0% 209 38.3% 35 54.2% - - - HMMPfam_ATP11 KIAA0494 9813 genome.wustl.edu 37 1 47152468 47152468 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014774.2 -1 validated p.I354 0.452 527 0.2% 506 29.8% 39 53.8% - - - NULL CYP4X1 260293 genome.wustl.edu 37 1 47505191 47505191 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178033.1 +1 reviewed p.S354P 0.032 97 0% 67 31.3% 32 56.2% possibly_damaging(0.805) tolerated(0.08) deleterious(0.603) HMMPfam_p450,superfamily_Cytochrome P450 CYP4X1 260293 genome.wustl.edu 37 1 47505193 47505193 + Silent SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178033.1 +1 reviewed p.S354 0.111 98 0% 68 33.8% 33 42.4% - - - HMMPfam_p450,superfamily_Cytochrome P450 CYP4Z1 199974 genome.wustl.edu 37 1 47583547 47583547 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178134.2 +1 reviewed p.R487C 0.000 106 0% 122 36.9% 0 - possibly_damaging(0.899) deleterious(0) deleterious(0.800) HMMPfam_p450,superfamily_Cytochrome_P450 CYP4A22 284541 genome.wustl.edu 37 1 47606581 47606581 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001010969.2 +1 reviewed p.L109M 0.972 154 0% 244 34.4% 0 - unknown(0) deleterious(0.01) - HMMPfam_p450,superfamily_Cytochrome P450 CYP4A22 284541 genome.wustl.edu 37 1 47610365 47610365 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001010969.2 +1 reviewed p.C347* 1.000 152 0% 220 31.8% 0 - - - - HMMPfam_p450,superfamily_Cytochrome P450 STIL 6491 genome.wustl.edu 37 1 47717410 47717410 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001048166.1 -1 reviewed p.N1089H 0.977 141 0% 264 38.3% 12 75% probably_damaging(0.989) deleterious(0.04) deleterious(0.788) NULL STIL 6491 genome.wustl.edu 37 1 47728593 47728593 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001048166.1 -1 reviewed p.K937N 0.880 278 0% 499 35.7% 4 25% possibly_damaging(0.732) deleterious(0.01) deleterious(0.673) NULL STIL 6491 genome.wustl.edu 37 1 47746413 47746413 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001048166.1 -1 reviewed p.D573N 0.319 182 0% 386 36.3% 0 - benign(0) tolerated(1) - NULL STIL 6491 genome.wustl.edu 37 1 47767944 47767944 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001048166.1 -1 reviewed p.S76L 0.001 240 0% 333 28.2% 0 - benign(0) tolerated(0.91) - NULL SLC5A9 200010 genome.wustl.edu 37 1 48694826 48694826 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001135181.1 +1 validated p.G131R 0.000 160 0% 151 32.5% 0 - benign(0.02) tolerated(0.12) neutral(0.262) HMMPfam_SSF SPATA6 54558 genome.wustl.edu 37 1 48865184 48865184 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019073.1 -1 provisional p.E207K 1.000 434 0% 276 30.1% 4 50% probably_damaging(1) tolerated(0.16) deleterious(0.559) NULL SPATA6 54558 genome.wustl.edu 37 1 48918771 48918771 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019073.1 -1 provisional p.K28N 1.000 216 0% 219 33.3% 1 0% probably_damaging(0.996) tolerated(0.06) deleterious(0.784) NULL AGBL4 84871 genome.wustl.edu 37 1 48999769 48999769 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000334103 -1 known p.S309Y 0.001 207 0% 227 30.8% 1 100% unknown(0) - - NULL AGBL4 84871 genome.wustl.edu 37 1 49056607 49056607 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032785.3 -1 validated p.M334I 1.000 70 0% 108 37% 0 - benign(0.067) tolerated(0.41) neutral(0.019) HMMPfam_Peptidase_M14,HMMSmart_SM00631,superfamily_Zn-dependent exopeptidases BEND5 79656 genome.wustl.edu 37 1 49202044 49202044 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024603.2 -1 validated p.T325 0.101 321 0% 363 28.1% 6 33.3% - - - HMMPfam_BEN BEND5 79656 genome.wustl.edu 37 1 49227047 49227047 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024603.2 -1 validated p.D108Y 1.000 384 0% 424 14.6% 1 0% possibly_damaging(0.822) deleterious(0.02) deleterious(0.694) NULL AGBL4 84871 genome.wustl.edu 37 1 50317105 50317105 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032785.3 -1 validated p.K40N 1.000 199 0% 200 36% 1 0% probably_damaging(0.954) deleterious(0.02) deleterious(0.780) NULL ELAVL4 1996 genome.wustl.edu 37 1 50572035 50572035 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001144775.1 +1 validated p.V10 1.000 213 0% 231 32% 0 - - - - NULL FAF1 11124 genome.wustl.edu 37 1 51121193 51121193 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007051.2 -1 reviewed p.R222I 1.000 161 0% 258 30.2% 26 53.8% probably_damaging(0.992) tolerated(0.08) deleterious(0.748) superfamily_Ubiquitin-like OSBPL9 114883 genome.wustl.edu 37 1 52179732 52179732 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_148909.1 +1 reviewed p.R100Q 1.000 189 0% 234 26.9% 8 25% probably_damaging(0.999) tolerated(0.05) deleterious(0.836) HMMSmart_PH NRD1 4898 genome.wustl.edu 37 1 52275032 52275032 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002525.2 -1 validated p.E717K 0.977 251 0% 272 26.5% 43 51.1% benign(0.01) tolerated(0.48) neutral(0.011) NULL RAB3B 5865 genome.wustl.edu 37 1 52399099 52399099 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002867.3 -1 validated p.K121N 1.000 143 0% 285 29.8% 3 66.6% probably_damaging(0.995) tolerated(0.09) deleterious(0.754) HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540 ZFYVE9 9372 genome.wustl.edu 37 1 52703442 52703442 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004799.2 +1 reviewed p.R118I 0.992 89 0% 124 37.9% 1 100% probably_damaging(0.992) deleterious(0) deleterious(0.892) NULL ZFYVE9 9372 genome.wustl.edu 37 1 52703801 52703801 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004799.2 +1 reviewed p.A238S 0.002 94 0% 119 26.1% 4 0% benign(0.001) deleterious(0.01) neutral(0.406) NULL ZFYVE9 9372 genome.wustl.edu 37 1 52704200 52704200 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004799.2 +1 reviewed p.E371* 0.992 71 0% 66 31.8% 4 0% - - - NULL CC2D1B 200014 genome.wustl.edu 37 1 52823538 52823538 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032449.1 -1 validated p.K504N 0.997 69 1.4% 98 34.7% 20 55% possibly_damaging(0.918) tolerated(0.41) neutral(0.384) NULL ZCCHC11 23318 genome.wustl.edu 37 1 52891167 52891167 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001009881.1 -1 validated p.R1575Q 1.000 107 0% 161 27.3% 18 38.8% probably_damaging(0.955) tolerated(0.43) neutral(0.412) NULL ZCCHC11 23318 genome.wustl.edu 37 1 52927392 52927392 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001009881.1 -1 validated p.R1040I 1.000 29 0% 18 50% 0 - benign(0.055) deleterious(0.01) neutral(0.409) HMMPfam_NTP_transf_2,superfamily_Nucleotidyltransferase ZCCHC11 23318 genome.wustl.edu 37 1 52930806 52930806 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001009881.1 -1 validated p.G1002V 1.000 184 0% 453 28.9% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_NTP_transf_2,superfamily_Nucleotidyltransferase ZCCHC11 23318 genome.wustl.edu 37 1 52933862 52933862 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001009881.1 -1 validated p.E986* 1.000 169 0% 219 23.3% 2 100% - - - HMMPfam_NTP_transf_2,superfamily_Nucleotidyltransferase ZCCHC11 23318 genome.wustl.edu 37 1 52941151 52941151 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001009881.1 -1 validated p.E694K 1.000 96 0% 160 35.6% 7 28.5% probably_damaging(0.99) tolerated(0.07) deleterious(0.760) superfamily_PAP/OAS1 substrate-binding domain ZCCHC11 23318 genome.wustl.edu 37 1 52981592 52981592 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001009881.1 -1 validated p.E285* 1.000 175 0% 252 34.1% 4 25% - - - NULL ZYG11B 79699 genome.wustl.edu 37 1 53236766 53236766 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024646.2 +1 validated p.A91S 1.000 57 0% 110 33.6% 3 66.6% benign(0.044) tolerated(0.21) neutral(0.046) NULL ZYG11B 79699 genome.wustl.edu 37 1 53279586 53279586 + Splice_Site SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024646.2 +1 validated e12+2 1.000 154 0% 327 34.9% 0 - - - - - ZYG11B 79699 genome.wustl.edu 37 1 53287176 53287176 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024646.2 +1 validated p.H704N 1.000 66 0% 189 35.4% 1 100% benign(0.021) tolerated(0.6) neutral(0.005) superfamily_ARM repeat ZYG11A 440590 genome.wustl.edu 37 1 53320281 53320281 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000371528 +1 known p.L79I 1.000 152 0% 318 35.5% 2 50% possibly_damaging(0.466) deleterious(0.02) deleterious(0.536) superfamily_RNI-like SCP2 6342 genome.wustl.edu 37 1 53443986 53443986 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002979.3 +1 reviewed p.E258* 1.000 215 0% 368 34.8% 5 0% - - - NULL SLC1A7 6512 genome.wustl.edu 37 1 53555607 53555607 + Splice_Site SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006671.4 -1 validated e9-1 1.000 25 0% 52 25% 0 - - - - - TMEM48 55706 genome.wustl.edu 37 1 54284727 54284727 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018087.4 -1 validated p.R207I 1.000 86 0% 97 34% 6 33.3% probably_damaging(0.977) tolerated(0.07) deleterious(0.738) HMMPfam_Ndc1_Nup MRPL37 51253 genome.wustl.edu 37 1 54683871 54683871 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016491.3 +1 reviewed p.K407N 1.000 213 0% 351 31.6% 212 41% benign(0.001) tolerated(0.33) neutral(0.024) NULL SSBP3 23648 genome.wustl.edu 37 1 54870558 54870558 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145716.2 -1 validated p.Q34H 1.000 69 0% 147 32% 38 39.4% possibly_damaging(0.908) deleterious(0) deleterious(0.806) HMMSmart_SM00667 FAM151A 338094 genome.wustl.edu 37 1 55075358 55075358 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_176782.2 -1 validated p.I447 0.898 39 0% 55 49.1% 6 66.6% - - - NULL HEATR8 374977 genome.wustl.edu 37 1 55148456 55148456 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001039464.2 +1 validated p.V837M 0.760 40 0% 24 33.3% 0 - probably_damaging(0.961) deleterious(0.03) deleterious(0.768) superfamily_ARM repeat HEATR8 374977 genome.wustl.edu 37 1 55175854 55175854 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001039464.2 +1 validated p.K1322N 0.998 64 0% 64 21.9% 0 - probably_damaging(0.98) deleterious(0) deleterious(0.869) NULL USP24 23358 genome.wustl.edu 37 1 55563710 55563710 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015306.2 -1 validated p.S1674Y 1.000 195 0% 213 31.9% 5 40% probably_damaging(0.992) deleterious(0.01) deleterious(0.853) HMMPfam_UCH,superfamily_Cysteine proteinases C1orf168 199920 genome.wustl.edu 37 1 57189315 57189315 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004303.4 -1 validated p.N640K 0.967 180 0% 61 21.3% 0 - probably_damaging(0.996) tolerated(1) neutral(0.462) NULL C8A 731 genome.wustl.edu 37 1 57372354 57372354 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000562.2 +1 reviewed p.D371Y 0.007 357 0% 367 30.2% 0 - possibly_damaging(0.91) deleterious(0.03) deleterious(0.727) HMMPfam_MACPF,HMMSmart_MACPF C8A 731 genome.wustl.edu 37 1 57372448 57372448 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000562.2 +1 reviewed p.F402C 0.000 312 0% 308 34.1% 0 - possibly_damaging(0.44) tolerated(0.2) neutral(0.193) HMMPfam_MACPF,HMMSmart_MACPF C8B 732 genome.wustl.edu 37 1 57431606 57431606 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000066.2 -1 reviewed p.T6A 0.000 59 0% 75 32% 0 - benign(0.007) tolerated(0.29) neutral(0.029) NULL DAB1 1600 genome.wustl.edu 37 1 57481088 57481088 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021080.3 -1 reviewed p.G304 1.000 25 0% 37 24.3% 0 - - - - NULL DAB1 1600 genome.wustl.edu 37 1 57602270 57602270 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021080.3 -1 reviewed p.K84N 1.000 277 0% 204 31.9% 0 - possibly_damaging(0.935) deleterious(0) deleterious(0.825) HMMPfam_PID,HMMSmart_SM00462,superfamily_PH domain-like OMA1 115209 genome.wustl.edu 37 1 58971865 58971865 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145243.3 -1 provisional p.R411K 1.000 171 0% 185 39.5% 8 12.5% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Peptidase_M48 OMA1 115209 genome.wustl.edu 37 1 58999994 58999994 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145243.3 -1 provisional p.E247* 1.000 127 0% 134 25.4% 0 - - - - NULL MYSM1 114803 genome.wustl.edu 37 1 59158571 59158571 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001085487.1 -1 provisional p.E60D 0.998 341 0% 492 32.1% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL FGGY 55277 genome.wustl.edu 37 1 60073532 60073532 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001113411.1 +1 validated p.V321I 0.993 276 0% 356 32.3% 1 0% benign(0) tolerated(0.81) neutral(0.001) superfamily_SSF53067 C1orf87 127795 genome.wustl.edu 37 1 60505699 60505699 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152377.1 -1 predicted p.L213I 1.000 223 0% 179 28.5% 0 - probably_damaging(0.959) tolerated(0.2) neutral(0.452) superfamily_EF-hand INADL 10207 genome.wustl.edu 37 1 62330183 62330183 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_176877.2 +1 reviewed p.E905* 0.404 96 0% 185 32.4% 13 30.7% - - - NULL INADL 10207 genome.wustl.edu 37 1 62455891 62455891 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_176877.2 +1 reviewed p.E1241G 1.000 81 0% 113 34.5% 8 25% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_PDZ,superfamily_PDZ domain-like L1TD1 54596 genome.wustl.edu 37 1 62676588 62676588 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019079.4 +1 validated p.E714D 0.309 80 0% 125 24.8% 1 100% possibly_damaging(0.945) tolerated(0.1) deleterious(0.676) HMMPfam_Transposase_22 L1TD1 54596 genome.wustl.edu 37 1 62676630 62676630 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019079.4 +1 validated p.N728K 0.997 79 0% 126 14.3% 0 - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_Transposase_22 L1TD1 54596 genome.wustl.edu 37 1 62676790 62676790 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019079.4 +1 validated p.E782* 0.004 48 0% 88 33% 0 - - - - HMMPfam_Transposase_22 DOCK7 85440 genome.wustl.edu 37 1 62962045 62962045 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033407.2 -1 validated p.D1599Y 1.000 163 0% 173 31.2% 8 37.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ANGPTL3 27329 genome.wustl.edu 37 1 63063483 63063483 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014495.2 +1 reviewed p.F82 1.000 147 0% 87 42.5% 0 - - - - NULL ANGPTL3 27329 genome.wustl.edu 37 1 63069785 63069785 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014495.2 +1 reviewed p.T359 0.000 166 0% 121 37.2% 0 - - - - HMMPfam_Fibrinogen_C,HMMSmart_SM00186,superfamily_Fibrinogen C-terminal domain-like ATG4C 84938 genome.wustl.edu 37 1 63270903 63270903 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032852.2 +1 reviewed p.K46T 1.000 121 0% 131 32.8% 4 50% possibly_damaging(0.808) tolerated(0.21) neutral(0.348) NULL ATG4C 84938 genome.wustl.edu 37 1 63282317 63282317 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032852.2 +1 reviewed p.E78* 1.000 92 0% 97 36.1% 3 0% - - - HMMPfam_Peptidase_C54 ATG4C 84938 genome.wustl.edu 37 1 63284765 63284765 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032852.2 +1 reviewed p.E162* 1.000 146 0% 124 25.8% 3 0% - - - HMMPfam_Peptidase_C54 FOXD3 27022 genome.wustl.edu 37 1 63789106 63789106 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012183.2 +1 reviewed p.S126L 0.448 15 0% 10 40% 1 0% unknown(0) deleterious(0.04) - NULL ALG6 29929 genome.wustl.edu 37 1 63862226 63862226 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013339.3 +1 reviewed p.R42I 1.000 275 0% 490 34.5% 8 62.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Alg6_Alg8 EFCAB7 84455 genome.wustl.edu 37 1 63991311 63991311 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032437.2 +1 validated p.R23Q 0.996 83 1.2% 109 22.9% 2 0% benign(0) tolerated(0.43) neutral(0.013) NULL EFCAB7 84455 genome.wustl.edu 37 1 63997509 63997509 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032437.2 +1 validated p.R69I 1.000 122 0% 113 27.4% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_EF-hand EFCAB7 84455 genome.wustl.edu 37 1 63997643 63997643 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032437.2 +1 validated p.L114V 0.999 98 0% 102 36.3% 0 - benign(0.052) tolerated(0.6) neutral(0.007) HMMSmart_SM00054,superfamily_EF-hand PGM1 5236 genome.wustl.edu 37 1 64095098 64095098 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002633.2 +1 reviewed p.I83 0.994 271 0% 263 36.9% 38 39.4% - - - HMMPfam_PGM_PMM_I,superfamily_Phosphoglucomutase first 3 domains RAVER2 55225 genome.wustl.edu 37 1 65270786 65270786 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018211.3 +1 validated p.K457T 0.998 103 0% 173 33.5% 9 77.7% benign(0.01) tolerated(0.72) neutral(0.002) NULL AK4 205 genome.wustl.edu 37 1 65691745 65691745 + Splice_Site SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005353.1 +1 reviewed e5-1 1.000 174 0% 317 28.7% 1 100% - - - - DNAJC6 9829 genome.wustl.edu 37 1 65831572 65831572 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014787.2 +1 validated p.T60A 1.000 412 0.5% 365 37.8% 3 66.6% benign(0.43) tolerated(1) neutral(0.140) NULL DNAJC6 9829 genome.wustl.edu 37 1 65851417 65851417 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014787.2 +1 validated p.L218I 1.000 167 0% 189 40.7% 0 - possibly_damaging(0.836) tolerated(0.69) neutral(0.322) superfamily_(Phosphotyrosine protein) phosphatases II DNAJC6 9829 genome.wustl.edu 37 1 65855267 65855267 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014787.2 +1 validated p.R418 1.000 317 0% 363 34.7% 1 0% - - - NULL PDE4B 5142 genome.wustl.edu 37 1 66833737 66833737 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001037341.1 +1 reviewed p.D551N 1.000 152 0% 128 31.2% 1 0% probably_damaging(0.986) tolerated(0.08) deleterious(0.734) HMMPfam_PDEase_I,HMMSmart_SM00471,superfamily_HD-domain/PDEase-like SGIP1 84251 genome.wustl.edu 37 1 67000051 67000051 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032291.2 +1 validated p.G4* 1.000 247 0% 384 31% 5 0% - - - NULL SGIP1 84251 genome.wustl.edu 37 1 67194969 67194969 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032291.2 +1 validated p.E589* 1.000 290 0% 271 38.4% 5 0% - - - HMMPfam_SAFF WDR78 79819 genome.wustl.edu 37 1 67337180 67337180 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024763.4 -1 validated p.K271N 0.000 319 0% 319 29.5% 6 33.3% benign(0.156) tolerated(0.42) neutral(0.028) NULL C1orf141 400757 genome.wustl.edu 37 1 67558934 67558934 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001013674.1 -1 predicted p.Q319H 0.088 145 0% 134 32.8% 0 - probably_damaging(0.981) deleterious(0) deleterious(0.870) NULL IL12RB2 3595 genome.wustl.edu 37 1 67796448 67796448 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001559.2 +1 reviewed p.W305G 0.979 145 0% 238 36.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_fn3,superfamily_Fibronectin type III IL12RB2 3595 genome.wustl.edu 37 1 67816586 67816586 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001559.2 +1 reviewed p.L358I 1.000 97 0% 143 35.7% 0 - possibly_damaging(0.827) tolerated(0.15) deleterious(0.555) superfamily_Fibronectin type III SERBP1 26135 genome.wustl.edu 37 1 67895755 67895755 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001018067.1 -1 validated p.D77Y 1.000 42 0% 36 33.3% 83 38.5% possibly_damaging(0.881) deleterious(0) deleterious(0.788) NULL WLS 79971 genome.wustl.edu 37 1 68592013 68592013 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024911.5 -1 validated p.L508 0.987 143 0% 230 41.3% 178 44.3% - - - NULL RPE65 6121 genome.wustl.edu 37 1 68912507 68912507 + Missense_Mutation SNP C C T rs61751282 TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000329.2 -1 reviewed p.R44Q 1.000 122 0% 183 30.6% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RPE65 LRRC7 57554 genome.wustl.edu 37 1 70291506 70291506 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020794.2 +1 validated p.S128Y 1.000 205 0% 138 28.3% 0 - benign(0.372) deleterious(0) deleterious(0.563) superfamily_L domain-like LRRC7 57554 genome.wustl.edu 37 1 70484449 70484449 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020794.2 +1 validated p.K418 1.000 225 0% 274 27.4% 0 - - - - superfamily_RNI-like LRRC7 57554 genome.wustl.edu 37 1 70504345 70504345 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020794.2 +1 validated p.V908 1.000 52 0% 94 29.8% 0 - - - - NULL LRRC40 55631 genome.wustl.edu 37 1 70639322 70639322 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017768.4 -1 validated p.R350* 1.000 130 0% 97 19.6% 2 50% - - - NULL CTH 1491 genome.wustl.edu 37 1 70899534 70899534 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001902.4 +1 reviewed p.E301* 1.000 163 0% 246 31.7% 7 0% - - - HMMPfam_Cys_Met_Meta_PP,superfamily_PLP-dependent transferases PTGER3 5733 genome.wustl.edu 37 1 71477935 71477935 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198715.2 -1 reviewed p.I377S 0.998 109 0% 126 31% 0 - unknown(0) deleterious(0.01) - superfamily_SSF81321 ZRANB2 9406 genome.wustl.edu 37 1 71534967 71534967 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_203350.1 -1 validated p.S254 1.000 107 0% 109 28.4% 45 42.2% - - - NULL ZRANB2 9406 genome.wustl.edu 37 1 71544350 71544350 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_203350.1 -1 validated p.R33Q 1.000 131 0% 121 33.9% 19 36.8% possibly_damaging(0.885) deleterious(0.05) deleterious(0.692) HMMPfam_zf-RanBP,HMMSmart_SM00547,PatternScan_ZF_RANBP2_1,superfamily_Znf265 first zinc-finger domain LRRIQ3 127255 genome.wustl.edu 37 1 74492646 74492646 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001105659.1 -1 provisional p.E576* 0.483 167 0% 70 35.7% 0 - - - - NULL LRRIQ3 127255 genome.wustl.edu 37 1 74507362 74507362 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001105659.1 -1 provisional p.R418Q 0.000 291 0% 265 35.8% 0 - benign(0) tolerated(0.41) neutral(0.015) NULL TNNI3K 51086 genome.wustl.edu 37 1 74716373 74716373 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001112808.1 +1 validated p.R186* 0.962 325 0% 339 22.4% 0 - - - - HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat C1orf173 127254 genome.wustl.edu 37 1 75038981 75038981 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001002912.4 -1 validated p.H805Y 0.000 246 0% 220 30.5% 0 - benign(0.202) deleterious(0.02) neutral(0.403) NULL C1orf173 127254 genome.wustl.edu 37 1 75107025 75107025 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001002912.4 -1 validated p.P145L 0.984 165 0% 114 29.8% 0 - benign(0.002) deleterious(0.01) neutral(0.406) NULL LHX8 431707 genome.wustl.edu 37 1 75606709 75606709 + Missense_Mutation SNP A A T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001001933.1 +1 validated p.S103C 1.000 191 0% 172 35.5% 2 0% probably_damaging(0.999) tolerated(0.4) deleterious(0.506) HMMPfam_LIM,HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,superfamily_Glucocorticoid receptor-like (DNA-binding domain) LHX8 431707 genome.wustl.edu 37 1 75609017 75609017 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001001933.1 +1 validated p.E202* 1.000 92 0% 82 32.9% 0 - - - - superfamily_Glucocorticoid receptor-like (DNA-binding domain) LHX8 431707 genome.wustl.edu 37 1 75622730 75622730 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001001933.1 +1 validated p.T321 0.858 294 0% 393 29.3% 0 - - - - NULL SLC44A5 204962 genome.wustl.edu 37 1 75680309 75680309 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152697.4 -1 validated p.L595M 0.980 216 0% 185 20.5% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_DUF580 SLC44A5 204962 genome.wustl.edu 37 1 75684965 75684965 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152697.4 -1 validated p.E415* 1.000 184 0% 157 25.5% 0 - - - - HMMPfam_DUF580 MSH4 4438 genome.wustl.edu 37 1 76288153 76288153 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002440.2 +1 validated p.R350Q 1.000 107 0% 153 37.3% 0 - probably_damaging(0.995) deleterious(0.05) deleterious(0.803) HMMPfam_MutS_III,HMMSmart_MUTSd,superfamily_DNA_repair_MutS_domIII MSH4 4438 genome.wustl.edu 37 1 76343991 76343991 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002440.2 +1 validated p.D510Y 1.000 156 0% 115 21.7% 0 - possibly_damaging(0.87) deleterious(0.03) deleterious(0.703) HMMPfam_MutS_III,HMMSmart_MUTSd,superfamily_DNA_repair_MutS_domIII,HMMPfam_MutS_IV MSH4 4438 genome.wustl.edu 37 1 76345754 76345754 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002440.2 +1 validated p.S566Y 1.000 252 0% 99 23.2% 0 - benign(0.375) tolerated(1) neutral(0.119) HMMPfam_MutS_III,HMMSmart_MUTSd,superfamily_DNA_repair_MutS_domIII,HMMPfam_MutS_IV MSH4 4438 genome.wustl.edu 37 1 76349314 76349314 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002440.2 +1 validated p.E639* 1.000 139 0% 82 30.5% 0 - - - - HMMPfam_MutS_V,HMMSmart_MUTSd,superfamily_SSF52540 MSH4 4438 genome.wustl.edu 37 1 76349420 76349420 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002440.2 +1 validated p.N674T 1.000 251 0% 223 32.3% 0 - probably_damaging(1) tolerated(0.89) deleterious(0.500) HMMPfam_MutS_V,HMMSmart_MUTSac,superfamily_SSF52540 MSH4 4438 genome.wustl.edu 37 1 76354969 76354969 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002440.2 +1 validated p.R714K 1.000 130 0% 108 26.9% 0 - benign(0.078) tolerated(1) neutral(0.005) HMMPfam_MutS_V,HMMSmart_MUTSac,superfamily_SSF52540 AK5 26289 genome.wustl.edu 37 1 77763399 77763399 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_174858.1 +1 reviewed p.E191* 1.000 162 0% 205 29.8% 0 - - - - HMMPfam_ADK,superfamily_P-loop containing nucleoside triphosphate hydrolases AK5 26289 genome.wustl.edu 37 1 77987619 77987619 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_174858.1 +1 reviewed p.F473 0.970 79 0% 124 26.6% 0 - - - - HMMPfam_ADK,superfamily_P-loop containing nucleoside triphosphate hydrolases ZZZ3 26009 genome.wustl.edu 37 1 78098928 78098928 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015534.4 -1 provisional p.E38* 1.000 175 0% 187 27.3% 1 0% - - - NULL USP33 23032 genome.wustl.edu 37 1 78194081 78194081 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015017.3 -1 validated p.N376T 0.972 209 0% 256 31.6% 11 27.2% benign(0) tolerated(0.72) neutral(0.002) HMMPfam_UCH,superfamily_Cysteine proteinases USP33 23032 genome.wustl.edu 37 1 78205036 78205036 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015017.3 -1 validated p.E120* 1.000 276 0.4% 512 32.2% 3 0% - - - HMMPfam_zf-UBP NEXN 91624 genome.wustl.edu 37 1 78395036 78395036 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000342754 +1 known p.K200R 0.000 135 0% 240 28.3% 0 - - - - NULL NEXN 91624 genome.wustl.edu 37 1 78401688 78401688 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144573.3 +1 reviewed p.D478N 1.000 122 0% 221 22.6% 7 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL FUBP1 8880 genome.wustl.edu 37 1 78428511 78428511 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003902.3 -1 reviewed p.R430C 1.000 283 0% 296 26% 79 41.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) GIPC2 54810 genome.wustl.edu 37 1 78601341 78601341 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017655.4 +1 validated p.E288K 0.995 191 0.5% 213 26.3% 2 0% possibly_damaging(0.811) tolerated(0.57) neutral(0.311) NULL PTGFR 5737 genome.wustl.edu 37 1 78963588 78963588 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001039585.1 +1 reviewed p.E276D 0.549 244 0% 202 19.3% 0 - benign(0) tolerated(0.43) neutral(0.013) HMMPfam_7tm_1 ELTD1 64123 genome.wustl.edu 37 1 79392743 79392743 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022159.3 -1 validated p.S304I 0.966 110 0% 60 28.3% 2 0% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL ELTD1 64123 genome.wustl.edu 37 1 79403923 79403923 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022159.3 -1 validated p.V146 0.998 147 0% 143 41.3% 1 0% - - - NULL LPHN2 23266 genome.wustl.edu 37 1 82402422 82402422 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012302.2 +1 reviewed p.R100* 1.000 303 0.7% 242 26.4% 6 50% - - - HMMPfam_Gal_Lectin LPHN2 23266 genome.wustl.edu 37 1 82409144 82409144 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012302.2 +1 reviewed p.R297* 1.000 177 0% 146 39.7% 4 25% - - - HMMPfam_OLF,HMMSmart_SM00284 PRKACB 5567 genome.wustl.edu 37 1 84647974 84647974 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182948.2 +1 reviewed p.E114A 1.000 188 0% 200 22% 0 - benign(0.002) tolerated(0.17) neutral(0.059) HMMSmart_S_TKc,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase SSX2IP 117178 genome.wustl.edu 37 1 85127967 85127967 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014021.3 -1 reviewed p.L281I 1.000 401 0% 316 30.7% 7 42.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL LPAR3 23566 genome.wustl.edu 37 1 85279658 85279658 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012152.2 -1 reviewed p.F311 0.286 147 0% 169 34.3% 3 33.3% - - - superfamily_SSF81321 LPAR3 23566 genome.wustl.edu 37 1 85331573 85331573 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012152.2 -1 reviewed p.F77L 1.000 109 0% 182 28% 1 0% possibly_damaging(0.946) tolerated(1) neutral(0.390) HMMPfam_7tm_1,superfamily_SSF81321 MCOLN2 255231 genome.wustl.edu 37 1 85403521 85403521 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153259.2 -1 reviewed p.L418I 0.983 151 0% 260 36.5% 0 - benign(0.135) tolerated(0.51) neutral(0.020) HMMPfam_Ion_trans MCOLN2 255231 genome.wustl.edu 37 1 85412741 85412741 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153259.2 -1 reviewed p.C274 0.999 372 0% 466 33.9% 0 - - - - NULL MCOLN3 55283 genome.wustl.edu 37 1 85506861 85506861 + Splice_Site SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018298.9 -1 validated e2-1 1.000 147 0% 222 33.8% 0 - - - - - WDR63 126820 genome.wustl.edu 37 1 85548022 85548022 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145172.3 +1 validated p.D109Y 1.000 268 0% 369 36% 0 - probably_damaging(0.958) deleterious(0.01) deleterious(0.807) NULL WDR63 126820 genome.wustl.edu 37 1 85570238 85570238 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145172.3 +1 validated p.R504Q 1.000 222 0% 340 33.2% 1 100% possibly_damaging(0.482) tolerated(0.42) neutral(0.174) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 SYDE2 84144 genome.wustl.edu 37 1 85656323 85656323 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032184.1 -1 validated p.K286N 1.000 177 0% 282 33% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL BCL10 8915 genome.wustl.edu 37 1 85733523 85733523 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003921.4 -1 reviewed p.T163 0.975 117 0.9% 158 36.7% 3 0% - - - NULL BCL10 8915 genome.wustl.edu 37 1 85736523 85736523 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003921.4 -1 reviewed p.R42C 1.000 153 0% 142 26.8% 6 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CARD,superfamily_DEATH domain COL24A1 255631 genome.wustl.edu 37 1 86591507 86591507 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152890.5 -1 validated p.R171I 0.000 111 0% 56 28.6% 0 - benign(0.139) deleterious(0.02) neutral(0.395) HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 ODF2L 57489 genome.wustl.edu 37 1 86820279 86820279 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020729.2 -1 validated p.E538D 1.000 489 0% 499 37.3% 25 32% probably_damaging(0.998) tolerated(0.06) deleterious(0.797) NULL CLCA2 9635 genome.wustl.edu 37 1 86894221 86894221 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006536.5 +1 reviewed p.D149Y 1.000 194 0% 166 33.1% 0 - probably_damaging(0.997) deleterious(0.03) deleterious(0.831) HMMPfam_CLCA_N CLCA2 9635 genome.wustl.edu 37 1 86898057 86898057 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006536.5 +1 reviewed p.S197* 1.000 230 0% 261 35.2% 0 - - - - HMMPfam_CLCA_N CLCA2 9635 genome.wustl.edu 37 1 86919077 86919077 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006536.5 +1 reviewed p.R727S 0.101 95 0% 112 33.9% 0 - possibly_damaging(0.647) deleterious(0.02) deleterious(0.610) NULL CLCA4 22802 genome.wustl.edu 37 1 87025752 87025752 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012128.3 +1 reviewed p.K99 0.019 134 0% 122 27.9% 0 - - - - HMMPfam_CLCA_N CLCA4 22802 genome.wustl.edu 37 1 87031063 87031063 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012128.3 +1 reviewed p.D222Y 1.000 170 0% 143 30.8% 0 - possibly_damaging(0.822) deleterious(0.04) deleterious(0.660) HMMPfam_CLCA_N CLCA4 22802 genome.wustl.edu 37 1 87040225 87040225 + Silent SNP C C T rs189996621 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012128.3 +1 reviewed p.L490 0.999 34 0% 20 40% 0 - - - - HMMPfam_DUF1973 CLCA4 22802 genome.wustl.edu 37 1 87046114 87046114 + RNA SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NR_024602.1 +1 reviewed NULL 0.010 41 0% 16 25% 0 - - - - - SEP15 9403 genome.wustl.edu 37 1 87329184 87329184 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004261.3 -1 reviewed p.F157 0.997 194 0% 298 32.2% 201 41.7% - - - HMMPfam_Sep15_SelM HS2ST1 9653 genome.wustl.edu 37 1 87570261 87570261 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012262.3 +1 reviewed p.E318G 1.000 124 0% 107 37.4% 13 53.8% possibly_damaging(0.945) deleterious(0.04) deleterious(0.738) HMMPfam_HS2ST,superfamily_P-loop containing nucleoside triphosphate hydrolases PKN2 5586 genome.wustl.edu 37 1 89237133 89237133 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006256.2 +1 validated p.R218W 1.000 28 3.6% 77 39% 4 75% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_HR1,HMMSmart_Hr1,superfamily_PKN_effector CCBL2 56267 genome.wustl.edu 37 1 89414861 89414861 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000260508 -1 known p.R352W 1.000 180 0% 248 27% 29 41.3% possibly_damaging(0.892) tolerated(0.15) deleterious(0.593) HMMPfam_Aminotran_1_2,superfamily_PLP-dependent transferases RBMXL1 494115 genome.wustl.edu 37 1 89448722 89448722 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000340396 -1 known p.E60* 0.022 295 0% 498 30.5% 16 62.5% probably_damaging(0.993) deleterious(0) deleterious(0.895) NULL RBMXL1 494115 genome.wustl.edu 37 1 89449487 89449487 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000321792 -1 known p.G8E 1.000 356 0% 578 25.6% 7 28.5% probably_damaging(0.999) tolerated(0.07) deleterious(0.809) NULL GBP3 2635 genome.wustl.edu 37 1 89479849 89479849 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018284.2 -1 reviewed p.R181I 0.998 157 0% 312 29.2% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF52540 GBP2 2634 genome.wustl.edu 37 1 89573945 89573945 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004120.3 -1 reviewed p.F563 0.000 273 0% 308 34.1% 86 3.4% - - - HMMPfam_GBP_C,superfamily_GBP GBP2 2634 genome.wustl.edu 37 1 89578240 89578240 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004120.3 -1 reviewed p.S426Y 0.282 187 0% 235 33.6% 69 1.4% benign(0.018) tolerated(0.72) neutral(0.002) HMMPfam_GBP_C,superfamily_GBP GBP2 2634 genome.wustl.edu 37 1 89582745 89582745 + Missense_Mutation SNP T T A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004120.3 -1 reviewed p.E266D 0.051 210 0% 238 30.3% 29 3.4% benign(0.001) tolerated(0.53) neutral(0.007) HMMPfam_GBP,superfamily_SSF52540 GBP7 388646 genome.wustl.edu 37 1 89607326 89607326 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_207398.2 -1 validated p.D457 0.023 182 0% 217 30.9% 0 - - - - HMMPfam_GBP_C,superfamily_Interferon-induced guanylate-binding protein 1 (GBP1) C-terminal domain GBP7 388646 genome.wustl.edu 37 1 89616080 89616080 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_207398.2 -1 validated p.F268L 0.817 255 0% 273 31.1% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_GBP,superfamily_P-loop containing nucleoside triphosphate hydrolases GBP4 115361 genome.wustl.edu 37 1 89652779 89652779 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_052941.4 -1 validated p.E473K 0.005 227 0% 261 22.2% 2 0% benign(0.001) tolerated(0.09) neutral(0.296) HMMPfam_GBP_C,superfamily_GBP GBP4 115361 genome.wustl.edu 37 1 89657130 89657130 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_052941.4 -1 validated p.R244* 0.988 143 0% 190 34.7% 5 0% - - - HMMPfam_GBP,superfamily_SSF52540 GBP4 115361 genome.wustl.edu 37 1 89662913 89662913 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_052941.4 -1 validated p.N39H 0.075 217 0% 277 34.7% 3 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_GBP,superfamily_SSF52540 GBP5 115362 genome.wustl.edu 37 1 89729564 89729564 + Missense_Mutation SNP G G A rs186974399 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001134486.1 -1 validated p.S406L 0.993 198 0% 263 30.8% 7 14.2% possibly_damaging(0.587) deleterious(0.05) deleterious(0.548) HMMPfam_GBP_C,superfamily_Interferon-induced guanylate-binding protein 1 (GBP1) C-terminal domain GBP5 115362 genome.wustl.edu 37 1 89732097 89732097 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001134486.1 -1 validated p.F267C 1.000 244 0% 334 36.5% 5 40% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GBP,superfamily_P-loop containing nucleoside triphosphate hydrolases GBP5 115362 genome.wustl.edu 37 1 89732222 89732222 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001134486.1 -1 validated p.Q225H 0.756 213 0% 320 39.7% 10 0% benign(0.002) deleterious(0.01) neutral(0.406) HMMPfam_GBP,superfamily_P-loop containing nucleoside triphosphate hydrolases GBP6 163351 genome.wustl.edu 37 1 89846106 89846106 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198460.2 +1 validated p.E263* 0.000 197 0% 204 36.8% 0 - - - - HMMPfam_GBP,superfamily_P-loop containing nucleoside triphosphate hydrolases GBP6 163351 genome.wustl.edu 37 1 89848275 89848275 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198460.2 +1 validated p.S402Y 0.335 114 0% 234 35% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GBP_C,superfamily_Interferon-induced guanylate-binding protein 1 (GBP1) C-terminal domain LRRC8B 23507 genome.wustl.edu 37 1 90048484 90048484 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001134476.1 +1 validated p.R92Q 1.000 130 0% 189 34.9% 7 71.4% benign(0.374) tolerated(0.19) neutral(0.168) NULL BARHL2 343472 genome.wustl.edu 37 1 91182393 91182393 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020063.1 -1 validated p.P120 0.906 31 0% 39 43.6% 0 - - - - NULL ZNF644 84146 genome.wustl.edu 37 1 91404020 91404020 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_201269.1 -1 validated p.S964L 0.937 161 0% 175 25.7% 4 25% possibly_damaging(0.736) deleterious(0) deleterious(0.714) HMMSmart_SM00355 ZNF644 84146 genome.wustl.edu 37 1 91405467 91405467 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_201269.1 -1 validated p.R482C 1.000 292 0.3% 274 28.8% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL ZNF644 84146 genome.wustl.edu 37 1 91406039 91406039 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_201269.1 -1 validated p.R291I 1.000 190 0% 173 30.6% 2 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL HFM1 164045 genome.wustl.edu 37 1 91859927 91859927 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001017975.3 -1 validated p.N73H 1.000 178 0% 164 31.1% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL TGFBR3 7049 genome.wustl.edu 37 1 92181886 92181886 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003243.3 -1 validated p.I591 1.000 356 0% 441 35.8% 2 50% - - - HMMPfam_Zona_pellucida,HMMSmart_ZP TGFBR3 7049 genome.wustl.edu 37 1 92200375 92200375 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003243.3 -1 validated p.E176K 1.000 299 0% 400 35% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL BRDT 676 genome.wustl.edu 37 1 92442717 92442717 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001726.3 +1 validated p.K246Q 0.779 84 0% 165 40.6% 0 - possibly_damaging(0.825) tolerated(0.13) deleterious(0.565) superfamily_Bromodomain BRDT 676 genome.wustl.edu 37 1 92442825 92442825 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001726.3 +1 validated p.E282* 1.000 47 0% 102 36.3% 0 - - - - HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain BRDT 676 genome.wustl.edu 37 1 92446511 92446511 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001726.3 +1 validated p.P509H 1.000 139 0% 243 30.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL BRDT 676 genome.wustl.edu 37 1 92459798 92459798 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001726.3 +1 validated p.I758 0.000 94 0% 297 22.2% 0 - - - - NULL EPHX4 253152 genome.wustl.edu 37 1 92518203 92518203 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173567.4 +1 validated p.R282Q 1.000 97 2.1% 145 35.2% 4 75% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Abhydrolase_1,superfamily_SSF53474 BTBD8 284697 genome.wustl.edu 37 1 92613245 92613245 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_183242.3 +1 validated p.I342L 1.000 221 0% 185 32.4% 2 50% possibly_damaging(0.633) tolerated(0.08) deleterious(0.521) NULL EVI5 7813 genome.wustl.edu 37 1 93142741 93142741 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005665.4 -1 validated p.E422* 1.000 429 0% 593 30% 3 66.6% - - - NULL FAM69A 388650 genome.wustl.edu 37 1 93341862 93341862 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001006605.3 -1 reviewed p.K60N 1.000 85 0% 107 29.9% 2 50% benign(0.3) deleterious(0.02) deleterious(0.476) NULL CCDC18 343099 genome.wustl.edu 37 1 93676480 93676480 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_206886.2 +1 validated p.L562S 1.000 96 0% 112 26.8% 0 - possibly_damaging(0.605) deleterious(0.02) deleterious(0.593) NULL DR1 1810 genome.wustl.edu 37 1 93826068 93826068 + Missense_Mutation SNP G G A rs182894486 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001938.2 +1 reviewed p.E135K 1.000 157 0% 208 12.5% 28 14.2% unknown(0) tolerated(0.49) - superfamily_Histone-fold DNTTIP2 30836 genome.wustl.edu 37 1 94335329 94335329 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000436063 -1 known p.S790* 0.001 122 0.8% 110 30.9% 4 50% - - - NULL DNTTIP2 30836 genome.wustl.edu 37 1 94335350 94335350 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000436063 -1 known p.T783K 0.000 143 0.7% 139 31.7% 11 54.5% - - - NULL ABCA4 24 genome.wustl.edu 37 1 94471025 94471025 + Missense_Mutation SNP C C T rs148460146 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000350.2 -1 reviewed p.R2040Q 1.000 217 0% 285 34% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ABC_tran,HMMSmart_AAA,superfamily_SSF52540 ABCA4 24 genome.wustl.edu 37 1 94487219 94487219 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000350.2 -1 reviewed p.L1609I 0.798 168 0% 182 31.3% 0 - possibly_damaging(0.89) deleterious(0.01) deleterious(0.756) NULL ABCA4 24 genome.wustl.edu 37 1 94505630 94505630 + Silent SNP G G A rs187965758 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000350.2 -1 reviewed p.V1192 0.000 167 0% 198 33.8% 0 - - - - NULL ABCA4 24 genome.wustl.edu 37 1 94544179 94544179 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000350.2 -1 reviewed p.F441L 1.000 254 0% 376 27.4% 0 - probably_damaging(1) tolerated(0.07) deleterious(0.819) NULL ABCA4 24 genome.wustl.edu 37 1 94564462 94564462 + Missense_Mutation SNP C C A rs61748537 TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000350.2 -1 reviewed p.R219I 0.986 70 0% 102 36.3% 0 - possibly_damaging(0.9) tolerated(0.11) deleterious(0.628) NULL ABCA4 24 genome.wustl.edu 37 1 94568673 94568673 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000350.2 -1 reviewed p.I156 0.989 325 0% 384 69.3% 0 - - - - NULL ABCD3 5825 genome.wustl.edu 37 1 94972193 94972193 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002858.3 +1 reviewed p.R614* 1.000 200 0% 234 36.3% 13 53.8% - - - HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases CNN3 1266 genome.wustl.edu 37 1 95367329 95367329 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001839.3 -1 validated p.G133* 1.000 256 0% 328 37.2% 32 0% - - - superfamily_Calponin-homology domain CH-domain DPYD 1806 genome.wustl.edu 37 1 97564116 97564116 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000110.3 -1 reviewed p.E899* 0.998 370 0% 210 31.4% 0 - - - - superfamily_SSF54862 DPYD 1806 genome.wustl.edu 37 1 97847958 97847958 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000110.3 -1 reviewed p.K655N 0.987 109 0% 90 26.7% 0 - benign(0.028) tolerated(0.06) neutral(0.324) superfamily_SSF51395 DPYD 1806 genome.wustl.edu 37 1 98348822 98348822 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000110.3 -1 reviewed p.F50V 1.000 285 0% 200 32% 0 - benign(0) tolerated(0.28) neutral(0.032) superfamily_Helical_ferredxn MIR137 406928 genome.wustl.edu 37 1 98511713 98511713 + RNA SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000385223 -1 known NULL 1.000 41 0% 28 32.1% 0 - - - - - LPPR5 163404 genome.wustl.edu 37 1 99418872 99418872 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001037317.1 -1 reviewed p.I125M 1.000 78 0% 79 32.9% 0 - possibly_damaging(0.822) deleterious(0) deleterious(0.756) HMMPfam_PAP2,HMMSmart_SM00014,superfamily_Acid phosphatase/Vanadium-dependent haloperoxidase PALMD 54873 genome.wustl.edu 37 1 100154363 100154363 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017734.4 +1 validated p.D183Y 1.000 60 0% 47 42.6% 5 20% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Paralemmin PALMD 54873 genome.wustl.edu 37 1 100154996 100154996 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017734.4 +1 validated p.D394Y 1.000 62 0% 51 27.5% 15 33.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL AGL 178 genome.wustl.edu 37 1 100379225 100379225 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000028.2 +1 reviewed p.D1364 0.994 186 0% 222 32.9% 1 100% - - - superfamily_Six-hairpin glycosidases,HMMPfam_GDE_C SLC35A3 23443 genome.wustl.edu 37 1 100472651 100472651 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012243.1 +1 provisional p.K135T 0.996 228 0% 439 34.9% 13 53.8% benign(0.382) tolerated(0.34) neutral(0.145) HMMPfam_Nuc_sug_transp,superfamily_Multidrug resistance efflux transporter EmrE SASS6 163786 genome.wustl.edu 37 1 100553791 100553791 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_194292.1 -1 validated p.V559A 1.000 163 0% 212 32.1% 0 - possibly_damaging(0.625) deleterious(0.03) deleterious(0.583) NULL SASS6 163786 genome.wustl.edu 37 1 100576003 100576003 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_194292.1 -1 validated p.K236E 1.000 449 0% 516 39% 1 0% probably_damaging(0.991) deleterious(0.01) deleterious(0.850) NULL LRRC39 127495 genome.wustl.edu 37 1 100620719 100620719 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144620.2 -1 provisional p.I234L 1.000 297 0% 361 33.8% 0 - probably_damaging(0.97) tolerated(1) neutral(0.412) HMMSmart_SM00369,superfamily_L domain-like LRRC39 127495 genome.wustl.edu 37 1 100626119 100626119 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144620.2 -1 provisional p.R41Q 0.924 317 0% 446 37.2% 0 - possibly_damaging(0.805) tolerated(0.11) deleterious(0.575) NULL EXTL2 2135 genome.wustl.edu 37 1 101339742 101339742 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001033025.1 -1 validated p.F250C 1.000 109 0% 76 48.7% 8 25% probably_damaging(0.959) deleterious(0) deleterious(0.847) HMMPfam_Glyco_transf_64,superfamily_Nucleotide-diphospho-sugar transferases EXTL2 2135 genome.wustl.edu 37 1 101339886 101339886 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001033025.1 -1 validated p.S202F 0.359 86 0% 54 24.1% 7 28.5% benign(0) tolerated(0.09) neutral(0.296) HMMPfam_Glyco_transf_64,superfamily_Nucleotide-diphospho-sugar transferases S1PR1 1901 genome.wustl.edu 37 1 101705418 101705418 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001400.4 +1 reviewed p.A293V 0.995 49 0% 62 35.5% 4 50% benign(0.002) tolerated(0.09) neutral(0.296) HMMPfam_7tm_1,superfamily_SSF81321 COL11A1 1301 genome.wustl.edu 37 1 103491481 103491481 + Missense_Mutation SNP T T A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_080629.2 -1 reviewed p.M270L 0.994 445 0% 495 27.7% 0 - benign(0.013) tolerated(0.73) neutral(0.002) NULL COL11A1 1301 genome.wustl.edu 37 1 103544279 103544279 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_080629.2 -1 reviewed p.D141 1.000 259 0% 136 28.7% 0 - - - - HMMSmart_LamG,HMMSmart_TSPN,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 COL11A1 1301 genome.wustl.edu 37 1 103548440 103548440 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_080629.2 -1 reviewed p.K65N 1.000 307 0% 225 30.2% 0 - unknown(0) deleterious(0.02) - HMMSmart_TSPN,superfamily_ConA_like_lec_gl COL11A1 1301 genome.wustl.edu 37 1 103573706 103573706 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_080629.2 -1 reviewed p.T10M 1.000 216 0% 249 29.3% 0 - unknown(0) deleterious(0.03) - NULL NTNG1 22854 genome.wustl.edu 37 1 107866982 107866982 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001113226.1 +1 validated p.F109V 1.000 182 0.5% 112 34.8% 5 60% benign(0) tolerated(0.46) neutral(0.012) HMMPfam_Laminin_N,HMMSmart_SM00136 FAM102B 284611 genome.wustl.edu 37 1 109143230 109143230 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001010883.2 +1 validated p.F60 1.000 244 0% 295 31.9% 3 0% - - - HMMPfam_Eeig1 PRPF38B 55119 genome.wustl.edu 37 1 109242491 109242491 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018061.2 +1 validated p.S497Y 1.000 65 0% 110 31.8% 44 31.8% unknown(0) tolerated(0.09) - NULL AKNAD1 254268 genome.wustl.edu 37 1 109358837 109358837 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152763.3 -1 validated p.D823N 1.000 329 0% 492 36% 0 - benign(0.355) deleterious(0) deleterious(0.557) NULL AKNAD1 254268 genome.wustl.edu 37 1 109369896 109369896 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152763.3 -1 validated p.G623* 0.081 236 0% 406 30.3% 0 - - - - NULL KIAA1324 57535 genome.wustl.edu 37 1 109742791 109742791 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020775.3 +1 validated p.I913 1.000 63 0% 150 29.3% 173 54.3% - - - NULL ATXN7L2 127002 genome.wustl.edu 37 1 110030326 110030326 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153340.4 +1 validated p.I200 0.000 57 0% 92 32.6% 1 0% - - - NULL GPR61 83873 genome.wustl.edu 37 1 110086413 110086413 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031936.4 +1 validated p.E257K 1.000 73 0% 107 34.6% 0 - possibly_damaging(0.654) tolerated(0.29) neutral(0.259) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like GSTM5 2949 genome.wustl.edu 37 1 110255255 110255255 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000851.3 +1 reviewed p.R18C 1.000 90 0% 86 32.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GST_N,superfamily_Thioredoxin-like EPS8L3 79574 genome.wustl.edu 37 1 110293381 110293381 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_139053.1 -1 reviewed p.S558 0.920 69 0% 104 36.5% 0 - - - - NULL SLC6A17 388662 genome.wustl.edu 37 1 110714772 110714772 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001010898.2 +1 validated p.R126H 1.000 131 0% 143 30.8% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_SNF KCNC4 3749 genome.wustl.edu 37 1 110754265 110754265 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004978.3 +1 reviewed p.E48D 1.000 38 0% 32 34.4% 0 - possibly_damaging(0.744) deleterious(0.01) deleterious(0.679) HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_POZ domain RBM15 64783 genome.wustl.edu 37 1 110883361 110883361 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022768.4 +1 validated p.K445T 1.000 44 0% 86 34.9% 4 75% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD SLC16A4 9122 genome.wustl.edu 37 1 110906469 110906469 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004696.1 -1 provisional p.F461L 1.000 146 0% 244 33.2% 4 0% possibly_damaging(0.767) tolerated(1) neutral(0.284) superfamily_MFS general substrate transporter PROK1 84432 genome.wustl.edu 37 1 110993855 110993855 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032414.2 +1 validated p.R6Q 0.000 238 0% 325 38.2% 0 - benign(0) tolerated(1) - HMMPfam_Prokineticin KCNA10 3744 genome.wustl.edu 37 1 111061363 111061363 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005549.2 -1 reviewed p.F16C 1.000 78 0% 85 41.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL KCNA2 3737 genome.wustl.edu 37 1 111147159 111147159 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004974.2 -1 reviewed p.R82 0.993 82 0% 99 33.3% 0 - - - - HMMSmart_BTB,HMMPfam_K_tetra,superfamily_BTB/POZ_fold KCNA3 3738 genome.wustl.edu 37 1 111216299 111216299 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002232.3 -1 reviewed p.S378L 1.000 99 0% 110 42.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_SSF81324 KCNA3 3738 genome.wustl.edu 37 1 111216880 111216880 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002232.3 -1 reviewed p.I184 1.000 67 0% 44 29.5% 0 - - - - HMMSmart_BTB,HMMPfam_K_tetra,superfamily_BTB/POZ_fold KCNA3 3738 genome.wustl.edu 37 1 111216985 111216985 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002232.3 -1 reviewed p.F149 1.000 67 0% 41 34.1% 0 - - - - HMMSmart_BTB,HMMPfam_K_tetra,superfamily_BTB/POZ_fold LRIF1 55791 genome.wustl.edu 37 1 111490669 111490669 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018372.3 -1 validated p.R741Q 1.000 170 0% 149 35.6% 13 23% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CHI3L2 1117 genome.wustl.edu 37 1 111778294 111778294 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004000.2 +1 validated p.K172E 0.002 139 0% 222 31.5% 0 - benign(0.003) tolerated(1) - HMMPfam_Glyco_hydro_18,HMMSmart_Glyco_18,superfamily_Glyco_hydro_cat ADORA3 140 genome.wustl.edu 37 1 112029217 112029217 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020683.6 -1 reviewed p.D288G 0.011 152 0% 215 28.8% 1 0% probably_damaging(0.988) deleterious(0.02) deleterious(0.821) HMMPfam_7tm_1 ADORA3 140 genome.wustl.edu 37 1 112031459 112031459 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000414219 -1 known p.G75E 0.516 291 0% 500 34.4% 0 - - - - superfamily_Immunoglobulin FAM212B 55924 genome.wustl.edu 37 1 112269689 112269689 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019099.4 -1 validated p.T265 0.000 109 0% 105 36.2% 0 - - - - NULL KCND3 3752 genome.wustl.edu 37 1 112323347 112323347 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004980.3 -1 reviewed p.R446C 1.000 78 0% 118 34.7% 4 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL KCND3 3752 genome.wustl.edu 37 1 112524471 112524471 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004980.3 -1 reviewed p.R293H 1.000 89 0% 143 35% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CTTNBP2NL 55917 genome.wustl.edu 37 1 112998576 112998576 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018704.2 +1 validated p.V154 0.999 34 0% 33 21.2% 9 11.1% - - - HMMPfam_CortBP2 CTTNBP2NL 55917 genome.wustl.edu 37 1 112998792 112998792 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018704.2 +1 validated p.K226N 1.000 152 0% 305 36.7% 8 37.5% possibly_damaging(0.783) tolerated(0.1) deleterious(0.579) HMMPfam_CortBP2 MOV10 4343 genome.wustl.edu 37 1 113240701 113240701 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001130079.1 +1 validated p.R762C 0.996 82 0% 90 37.8% 43 46.5% benign(0.284) tolerated(0.14) neutral(0.337) superfamily_P-loop containing nucleoside triphosphate hydrolases MAGI3 260425 genome.wustl.edu 37 1 114128108 114128108 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142782.1 +1 validated p.S218Y 1.000 107 0% 144 27.8% 2 100% possibly_damaging(0.508) deleterious(0.03) deleterious(0.534) HMMSmart_GuKc MAGI3 260425 genome.wustl.edu 37 1 114223941 114223941 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142782.1 +1 validated p.G1104D 1.000 175 0% 261 34.5% 3 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_PDZ MAGI3 260425 genome.wustl.edu 37 1 114226563 114226563 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142782.1 +1 validated p.T1458I 0.998 83 0% 151 33.1% 5 20% probably_damaging(0.954) deleterious(0) deleterious(0.842) NULL PHTF1 10745 genome.wustl.edu 37 1 114253066 114253066 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006608.2 -1 validated p.R360Q 0.961 75 0% 83 49.4% 20 45% benign(0.067) deleterious(0.03) neutral(0.369) NULL PHTF1 10745 genome.wustl.edu 37 1 114280744 114280744 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006608.2 -1 validated p.Y107H 1.000 136 0% 190 36.8% 12 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL AP4B1 10717 genome.wustl.edu 37 1 114437878 114437878 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006594.2 -1 validated p.R677W 0.997 95 0% 148 39.9% 48 35.4% benign(0) deleterious(0.04) neutral(0.349) HMMPfam_B2-adapt-app_C AP4B1 10717 genome.wustl.edu 37 1 114439044 114439044 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006594.2 -1 validated p.R449I 0.942 96 1% 205 32.2% 26 34.6% benign(0.001) tolerated(0.21) neutral(0.044) HMMPfam_Adaptin_N,superfamily_ARM-type_fold HIPK1 204851 genome.wustl.edu 37 1 114483216 114483216 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198268.1 +1 reviewed p.D71N 1.000 168 0% 280 33.6% 4 75% probably_damaging(0.959) deleterious(0.02) deleterious(0.786) NULL OLFML3 56944 genome.wustl.edu 37 1 114524201 114524201 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020190.2 +1 validated p.R344H 1.000 80 0% 86 26.7% 66 1.5% probably_damaging(1) tolerated(0.3) deleterious(0.528) HMMPfam_OLF,HMMSmart_SM00284 TRIM33 51592 genome.wustl.edu 37 1 114942100 114942100 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015906.3 -1 reviewed p.K1033N 1.000 186 0% 185 31.4% 4 75% probably_damaging(0.991) tolerated(0.07) deleterious(0.763) HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain DENND2C 163259 genome.wustl.edu 37 1 115137122 115137122 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198459.3 -1 validated p.I744 0.999 306 0% 460 33.3% 0 - - - - NULL DENND2C 163259 genome.wustl.edu 37 1 115166230 115166230 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198459.3 -1 validated p.R281* 1.000 149 0% 198 31.8% 0 - - - - NULL DENND2C 163259 genome.wustl.edu 37 1 115168119 115168119 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198459.3 -1 validated p.N163H 0.216 113 0% 124 32.3% 0 - benign(0) tolerated(0.43) neutral(0.013) NULL AMPD1 270 genome.wustl.edu 37 1 115220137 115220137 + Splice_Site SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000036.2 -1 reviewed e10-2 1.000 54 0% 74 28.4% 0 - - - - - SYCP1 6847 genome.wustl.edu 37 1 115453042 115453042 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003176.2 +1 validated p.E449* 1.000 118 0% 102 29.4% 0 - - - - HMMPfam_SCP-1 SYCP1 6847 genome.wustl.edu 37 1 115468947 115468947 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003176.2 +1 validated p.E617* 1.000 100 0% 48 37.5% 0 - - - - HMMPfam_SCP-1 CASQ2 845 genome.wustl.edu 37 1 116275561 116275561 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001232.3 -1 reviewed p.F189 1.000 214 0% 280 34.6% 0 - - - - HMMPfam_Calsequestrin,superfamily_Thioredoxin-like ATP1A1 476 genome.wustl.edu 37 1 116926731 116926731 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000701.7 +1 reviewed p.K36N 1.000 92 0% 134 37.3% 183 44.2% probably_damaging(0.973) deleterious(0) deleterious(0.859) HMMPfam_Cation_ATPase_N ATP1A1 476 genome.wustl.edu 37 1 116944185 116944185 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000701.7 +1 reviewed p.I953 1.000 418 0% 523 33.7% 1413 42.5% - - - HMMPfam_Cation_ATPase_C,superfamily_Calcium ATPase transmembrane domain M CD58 965 genome.wustl.edu 37 1 117086943 117086943 + Silent SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001779.2 -1 reviewed p.L118 0.000 109 0% 160 35% 9 44.4% - - - superfamily_Immunoglobulin CD58 965 genome.wustl.edu 37 1 117087140 117087140 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001779.2 -1 reviewed p.E53* 0.005 183 0% 180 33.3% 6 16.6% - - - superfamily_Immunoglobulin CD2 914 genome.wustl.edu 37 1 117307133 117307133 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001767.3 +1 validated p.I214T 0.000 173 0% 266 35.3% 11 0% benign(0.004) deleterious(0.02) neutral(0.383) NULL CD101 9398 genome.wustl.edu 37 1 117552812 117552812 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004258.3 +1 validated p.E128D 0.000 63 0% 110 33.6% 0 - benign(0.059) tolerated(0.55) neutral(0.011) HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 TTF2 8458 genome.wustl.edu 37 1 117603091 117603091 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003594.3 +1 reviewed p.L15I 0.831 191 0% 280 31.4% 1 100% probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_zf-GRF TTF2 8458 genome.wustl.edu 37 1 117617783 117617783 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003594.3 +1 reviewed p.E193* 0.001 99 0% 192 33.9% 1 0% - - - NULL GDAP2 54834 genome.wustl.edu 37 1 118439543 118439543 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017686.3 -1 validated p.R289* 1.000 226 0% 201 28.9% 9 33.3% - - - NULL WDR3 10885 genome.wustl.edu 37 1 118496162 118496162 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006784.2 +1 reviewed p.A756S 1.000 175 0% 135 28.9% 21 66.6% benign(0.08) tolerated(0.26) neutral(0.040) HMMPfam_Utp12 SPAG17 200162 genome.wustl.edu 37 1 118516064 118516064 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_206996.2 -1 validated p.S2042Y 0.962 355 0% 290 28.6% 0 - possibly_damaging(0.907) deleterious(0.05) deleterious(0.706) NULL SPAG17 200162 genome.wustl.edu 37 1 118537134 118537134 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_206996.2 -1 validated p.V1691 1.000 210 0% 173 34.7% 2 0% - - - NULL SPAG17 200162 genome.wustl.edu 37 1 118574425 118574425 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_206996.2 -1 validated p.P1167S 0.528 322 0% 318 32.1% 0 - probably_damaging(1) tolerated(0.06) deleterious(0.823) NULL SPAG17 200162 genome.wustl.edu 37 1 118598466 118598466 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_206996.2 -1 validated p.S871Y 0.000 326 0% 308 30.2% 0 - benign(0.313) tolerated(0.09) neutral(0.394) NULL TBX15 6913 genome.wustl.edu 37 1 119427675 119427675 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152380.2 -1 reviewed p.G391R 1.000 97 0% 137 30.7% 0 - probably_damaging(0.991) deleterious(0.04) deleterious(0.793) NULL TBX15 6913 genome.wustl.edu 37 1 119427953 119427953 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152380.2 -1 reviewed p.R298Q 1.000 88 0% 143 32.9% 0 - probably_damaging(0.988) deleterious(0) deleterious(0.882) NULL TBX15 6913 genome.wustl.edu 37 1 119456803 119456803 + Splice_Site SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152380.2 -1 reviewed e5-1 1.000 259 0% 194 43.8% 0 - - - - - HMGCS2 3158 genome.wustl.edu 37 1 120306873 120306873 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005518.3 -1 reviewed p.D161Y 1.000 116 0% 155 30.3% 15 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) PatternScan_HMG_COA_SYNTHASE,HMMPfam_HMG_CoA_synt_N,superfamily_Thiolase-like HMGCS2 3158 genome.wustl.edu 37 1 120307056 120307056 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005518.3 -1 reviewed p.E100K 1.000 167 0% 191 35.1% 7 71.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HMG_CoA_synt_N,superfamily_Thiolase-like FCGR1B 2210 genome.wustl.edu 37 1 120927286 120927286 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001017986.2 -1 validated p.E232* 0.716 383 0% 611 15.9% 8 0% - - - NULL FCGR1B 2210 genome.wustl.edu 37 1 120930168 120930168 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001017986.2 -1 validated p.K145Q 0.013 433 0% 663 26.5% 2 0% benign(0.424) tolerated(0.07) neutral(0.457) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin NBPF9 400818 genome.wustl.edu 37 1 144815996 144815996 + Missense_Mutation SNP C C T rs147255351 TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001037675.2 +1 predicted p.R208C 0.000 296 0% 526 36.1% 3 33.3% possibly_damaging(0.812) tolerated(0.21) neutral(0.349) NULL PDE4DIP 9659 genome.wustl.edu 37 1 144857691 144857691 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014644.4 -1 validated p.M2121I 0.997 250 0% 451 18.4% 4 25% - - - NULL PDE4DIP 9659 genome.wustl.edu 37 1 144868113 144868113 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014644.4 -1 validated p.D1776N 0.001 317 0% 478 16.5% 5 20% benign(0) tolerated(0.66) neutral(0.003) NULL PDE4DIP 9659 genome.wustl.edu 37 1 144916668 144916668 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014644.4 -1 validated p.E563* 1.000 397 0% 450 19.6% 30 0% - - - NULL PDE4DIP 9659 genome.wustl.edu 37 1 144917636 144917636 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014644.4 -1 validated p.R490W 1.000 115 0% 151 15.9% 20 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL TXNIP 10628 genome.wustl.edu 37 1 145440082 145440082 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006472.3 +1 validated p.F172L 1.000 92 0% 199 38.2% 120 17.5% benign(0.023) tolerated(0.2) neutral(0.050) superfamily_Ig_E-set ANKRD35 148741 genome.wustl.edu 37 1 145557101 145557101 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144698.3 +1 validated p.V105I 1.000 283 0% 547 30.2% 1 0% benign(0.101) tolerated(0.41) neutral(0.022) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK CD160 11126 genome.wustl.edu 37 1 145704266 145704266 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007053.2 -1 validated p.E51* 0.200 163 0% 296 29.4% 0 - - - - NULL GJA8 2703 genome.wustl.edu 37 1 147380410 147380410 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005267.4 +1 reviewed p.E110K 1.000 88 0% 160 40% 0 - benign(0.194) tolerated(0.17) neutral(0.077) HMMPfam_Connexin NBPF14 25832 genome.wustl.edu 37 1 148004558 148004558 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015383.1 -1 predicted p.F919S 0.020 421 0% 569 21.8% 10 30% possibly_damaging(0.701) deleterious(0) deleterious(0.697) NULL FCGR1A 2209 genome.wustl.edu 37 1 149760153 149760153 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000566.3 +1 reviewed p.G180V 0.009 329 0% 548 29.4% 7 0% probably_damaging(1) tolerated(0.45) deleterious(0.512) HMMSmart_SM00409,superfamily_Immunoglobulin HIST2H2BE 8349 genome.wustl.edu 37 1 149858002 149858002 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003528.2 -1 reviewed p.M63I 1.000 205 0% 399 34.8% 10 30% benign(0.028) deleterious(0.02) neutral(0.385) HMMSmart_SM00427,HMMPfam_Histone,superfamily_Histone-fold SV2A 9900 genome.wustl.edu 37 1 149884792 149884792 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014849.3 -1 validated p.D201N 1.000 43 0% 83 44.6% 0 - benign(0.006) tolerated(0.75) neutral(0.002) HMMPfam_MFS_1,superfamily_MFS general substrate transporter SV2A 9900 genome.wustl.edu 37 1 149884936 149884936 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014849.3 -1 validated p.E153* 1.000 77 0% 109 35.8% 3 0% - - - superfamily_MFS general substrate transporter SF3B4 10262 genome.wustl.edu 37 1 149897810 149897810 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005850.3 -1 reviewed p.S277 1.000 42 0% 66 40.9% 96 42.7% - - - NULL MTMR11 10903 genome.wustl.edu 37 1 149905806 149905806 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_181873.3 -1 validated p.R166Q 0.935 76 0% 168 36.3% 3 0% probably_damaging(0.994) tolerated(0.37) deleterious(0.471) HMMPfam_Myotub-related,superfamily_SSF52799 OTUD7B 56957 genome.wustl.edu 37 1 149943175 149943175 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020205.2 -1 validated p.K30N 1.000 147 0% 217 36.4% 4 50% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_UBA-like ANP32E 81611 genome.wustl.edu 37 1 150204195 150204195 + Nonsense_Mutation SNP T T A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030920.3 -1 validated p.K42* 1.000 124 0% 263 31.6% 30 40% - - - superfamily_L domain-like PRPF3 9129 genome.wustl.edu 37 1 150316693 150316693 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004698.2 +1 reviewed p.T494 0.848 65 0% 227 34.8% 30 46.6% - - - HMMPfam_PRP3 RPRD2 23248 genome.wustl.edu 37 1 150413430 150413430 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015203.3 +1 validated p.I123L 1.000 79 0% 157 27.4% 2 100% probably_damaging(0.988) tolerated(0.13) deleterious(0.690) HMMSmart_SM00582,HMMPfam_DUF618,superfamily_ENTH/VHS domain TARS2 80222 genome.wustl.edu 37 1 150470192 150470192 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025150.3 +1 provisional p.A403T 0.995 74 0% 75 21.3% 16 18.7% probably_damaging(0.989) deleterious(0) deleterious(0.884) HMMPfam_tRNA-synt_2b,superfamily_SSF55681 TARS2 80222 genome.wustl.edu 37 1 150479529 150479529 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025150.3 +1 provisional p.E716* 0.997 110 0% 193 28% 18 50% - - - NULL ECM1 1893 genome.wustl.edu 37 1 150483600 150483600 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004425.3 +1 reviewed p.F212V 0.975 31 0% 66 39.4% 17 17.6% benign(0) tolerated(0.73) neutral(0.002) HMMPfam_ECM1 CTSS 1520 genome.wustl.edu 37 1 150722617 150722617 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004079.3 -1 reviewed p.R220C 0.296 86 0% 196 30.1% 26 0% probably_damaging(0.988) tolerated(0.1) deleterious(0.724) HMMPfam_Peptidase_C1,HMMSmart_Pept_C1,superfamily_SSF54001 CTSS 1520 genome.wustl.edu 37 1 150727607 150727607 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004079.3 -1 reviewed p.S90Y 0.000 148 0% 268 31% 11 0% probably_damaging(0.974) deleterious(0.03) deleterious(0.780) superfamily_SSF54001 CTSK 1513 genome.wustl.edu 37 1 150769331 150769331 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000396.2 -1 reviewed p.R312* 1.000 237 0% 400 38% 78 3.8% - - - HMMPfam_Peptidase_C1,HMMSmart_SM00645,superfamily_Cysteine proteinases CTSK 1513 genome.wustl.edu 37 1 150776717 150776717 + Splice_Site SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000396.2 -1 reviewed e4-2 0.994 123 0% 251 25.5% 0 - - - - - CTSK 1513 genome.wustl.edu 37 1 150778367 150778367 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000396.2 -1 reviewed p.K123N 0.998 88 0% 186 30.6% 44 6.8% probably_damaging(0.992) tolerated(0.18) deleterious(0.504) HMMPfam_Peptidase_C1,HMMSmart_SM00645,superfamily_Cysteine proteinases SETDB1 9869 genome.wustl.edu 37 1 150900270 150900270 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145415.1 +1 reviewed p.Q27R 0.997 109 0% 289 31.5% 6 33.3% benign(0.258) deleterious(0) deleterious(0.472) NULL BNIPL 149428 genome.wustl.edu 37 1 151010087 151010087 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138278.3 +1 validated p.R29I 1.000 201 0% 597 34.7% 0 - possibly_damaging(0.528) deleterious(0.01) deleterious(0.584) NULL GABPB2 126626 genome.wustl.edu 37 1 151079528 151079528 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144618.2 +1 validated p.I251S 0.943 43 0% 85 34.1% 1 0% benign(0.016) tolerated(0.22) neutral(0.043) NULL GABPB2 126626 genome.wustl.edu 37 1 151079665 151079665 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144618.2 +1 validated p.P297S 1.000 61 0% 134 29.1% 2 50% probably_damaging(0.973) deleterious(0.01) deleterious(0.821) NULL SEMA6C 10500 genome.wustl.edu 37 1 151109021 151109021 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030913.4 -1 reviewed p.D337Y 1.000 61 0% 121 37.2% 5 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain TMOD4 29765 genome.wustl.edu 37 1 151143489 151143489 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013353.2 -1 validated p.I259 0.258 123 0% 289 34.9% 1 0% - - - HMMPfam_Tropomodulin,superfamily_RNI-like ZNF687 57592 genome.wustl.edu 37 1 151259633 151259633 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020832.1 +1 provisional p.D289A 0.042 49 0% 79 43% 8 50% benign(0.098) tolerated(0.38) neutral(0.025) NULL SELENBP1 8991 genome.wustl.edu 37 1 151337135 151337135 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003944.2 -1 reviewed p.G435W 1.000 145 0% 247 31.2% 32 21.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SBP56,superfamily_Cyt_cd1_haem_C CGN 57530 genome.wustl.edu 37 1 151508113 151508113 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020770.2 +1 validated p.S1011Y 0.999 100 0% 243 39.1% 16 43.7% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Myosin_tail_1 TUFT1 7286 genome.wustl.edu 37 1 151552190 151552190 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020127.2 +1 validated p.I330 0.860 89 0% 173 31.8% 8 37.5% - - - NULL CELF3 11189 genome.wustl.edu 37 1 151688415 151688415 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007185.4 -1 reviewed p.E28K 1.000 114 0% 173 34.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD RIIAD1 284485 genome.wustl.edu 37 1 151694607 151694607 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001144956.1 +1 validated p.E44* 1.000 380 0% 752 31.4% 0 - - - - HMMPfam_RIIa,superfamily_cAMP-dep_prot_kin_reg_I/II_a/b LINGO4 339398 genome.wustl.edu 37 1 151774916 151774916 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004432.2 -1 provisional p.L89V 0.998 91 0% 113 38.9% 0 - probably_damaging(1) tolerated(0.08) deleterious(0.800) HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52058 THEM5 284486 genome.wustl.edu 37 1 151820272 151820272 + Silent SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000453881 -1 known p.F161C 0.148 161 0% 208 26.9% 0 - - - - HMMPfam_4HBT,superfamily_Thioesterase/thiol ester dehydrase-isomerase THEM5 284486 genome.wustl.edu 37 1 151824845 151824845 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182578.3 -1 validated p.E72* 0.013 113 0% 202 39.1% 0 - - - - NULL THEM5 284486 genome.wustl.edu 37 1 151825987 151825987 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182578.3 -1 validated p.L19I 0.000 66 0% 71 22.5% 0 - benign(0.139) tolerated(0.4) neutral(0.028) NULL TCHHL1 126637 genome.wustl.edu 37 1 152057964 152057964 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001008536.1 -1 provisional p.L732F 0.000 331 0% 471 29.9% 0 - benign(0.088) tolerated(0.18) neutral(0.062) NULL TCHHL1 126637 genome.wustl.edu 37 1 152059249 152059249 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001008536.1 -1 provisional p.H303Q 0.000 279 0% 470 33.2% 0 - possibly_damaging(0.836) deleterious(0.02) deleterious(0.703) NULL TCHHL1 126637 genome.wustl.edu 37 1 152059927 152059927 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001008536.1 -1 provisional p.I77 0.927 132 0% 184 33.2% 0 - - - - superfamily_SSF47473 TCHH 7062 genome.wustl.edu 37 1 152081139 152081139 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007113.2 -1 provisional p.L1518 0.001 208 0% 288 30.6% 9 33.3% - - - NULL TCHH 7062 genome.wustl.edu 37 1 152081752 152081752 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007113.2 -1 provisional p.S1314F 0.006 164 0% 250 38.4% 5 40% unknown(0) - - NULL HRNR 388697 genome.wustl.edu 37 1 152188423 152188423 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001009931.1 -1 validated p.S1894 0.000 1051 0% 1583 10% 0 - - - - NULL FLG 2312 genome.wustl.edu 37 1 152276213 152276213 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002016.1 -1 reviewed p.H3717N 0.000 349 0% 486 35.2% 0 - possibly_damaging(0.554) tolerated(0.69) neutral(0.191) NULL FLG 2312 genome.wustl.edu 37 1 152280546 152280546 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002016.1 -1 reviewed p.Q2272 0.000 388 0% 568 25.9% 0 - - - - NULL FLG 2312 genome.wustl.edu 37 1 152281669 152281669 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002016.1 -1 reviewed p.S1898L 0.001 493 0% 659 34.3% 0 - probably_damaging(0.99) tolerated(0.18) deleterious(0.497) HMMPfam_Filaggrin FLG 2312 genome.wustl.edu 37 1 152284474 152284474 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002016.1 -1 reviewed p.S963Y 0.000 447 0% 587 39% 0 - probably_damaging(0.997) deleterious(0.03) deleterious(0.831) NULL FLG 2312 genome.wustl.edu 37 1 152286895 152286895 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002016.1 -1 reviewed p.S156Y 0.000 458 0% 521 33.8% 0 - benign(0.423) tolerated(0.06) neutral(0.460) NULL FLG2 388698 genome.wustl.edu 37 1 152326231 152326231 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001014342.2 -1 provisional p.R1344K 0.000 512 0% 694 23.9% 0 - unknown(0) tolerated(0.97) - NULL FLG2 388698 genome.wustl.edu 37 1 152326722 152326722 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001014342.2 -1 provisional p.G1180 0.002 169 0% 179 32.4% 0 - - - - NULL FLG2 388698 genome.wustl.edu 37 1 152328945 152328945 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001014342.2 -1 provisional p.S439 0.003 221 0% 271 36.2% 0 - - - - NULL LCE3E 353145 genome.wustl.edu 37 1 152538540 152538540 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178435.2 -1 validated p.E49K 0.043 87 0% 101 43.6% 0 - unknown(0) - - NULL KPRP 448834 genome.wustl.edu 37 1 152732378 152732378 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001025231.1 +1 provisional p.S105Y 0.006 181 0% 236 29.2% 0 - probably_damaging(0.965) deleterious(0) deleterious(0.851) NULL KPRP 448834 genome.wustl.edu 37 1 152732617 152732617 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001025231.1 +1 provisional p.Q185K 0.728 209 0% 271 32.1% 0 - probably_damaging(0.985) deleterious(0) deleterious(0.877) NULL IVL 3713 genome.wustl.edu 37 1 152883759 152883759 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005547.2 +1 reviewed p.Q496* 0.000 262 0% 352 31% 0 - - - - HMMPfam_Involucrin SPRR2E 6704 genome.wustl.edu 37 1 153066018 153066018 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001024209.2 -1 validated p.K70N 0.836 585 0% 922 28.6% 0 - unknown(0) - - NULL PGLYRP3 114771 genome.wustl.edu 37 1 153279722 153279722 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_052891.1 -1 provisional p.R26H 0.884 57 0% 50 30% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Amidase_2,HMMSmart_PGRP S100A12 6283 genome.wustl.edu 37 1 153346436 153346436 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005621.1 -1 reviewed p.K49T 0.003 190 0% 266 31.2% 0 - benign(0.249) deleterious(0) deleterious(0.470) superfamily_SSF47473 S100A7L2 645922 genome.wustl.edu 37 1 153409644 153409644 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001045479.1 -1 validated p.K77E 0.000 211 0% 273 32.6% 0 - benign(0.35) tolerated(0.66) neutral(0.114) PatternScan_EF_HAND_1,superfamily_EF-hand S100A7L2 645922 genome.wustl.edu 37 1 153410783 153410783 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001045479.1 -1 validated p.K19T 0.002 222 0% 411 33.1% 0 - benign(0.35) tolerated(0.35) neutral(0.132) superfamily_EF-hand S100A14 57402 genome.wustl.edu 37 1 153587807 153587807 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020672.1 -1 provisional p.K27N 1.000 58 0% 137 29.2% 3 66.6% benign(0) tolerated(0.21) neutral(0.044) HMMPfam_S_100,superfamily_SSF47473 SNAPIN 23557 genome.wustl.edu 37 1 153632023 153632023 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012437.4 +1 validated p.N97S 1.000 124 0% 311 28.9% 32 40.6% benign(0.094) tolerated(0.14) neutral(0.257) NULL SNAPIN 23557 genome.wustl.edu 37 1 153633680 153633680 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012437.4 +1 validated p.R105Q 1.000 70 0% 176 31.8% 30 40% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL NPR1 4881 genome.wustl.edu 37 1 153661707 153661707 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000906.3 +1 validated p.E870K 1.000 49 0% 104 33.7% 6 16.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Guanylate_cyc,HMMSmart_SM00044,superfamily_Adenylyl and guanylyl cyclase catalytic domain NUP210L 91181 genome.wustl.edu 37 1 153991440 153991440 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_207308.2 -1 validated p.D1541G 1.000 72 0% 129 31% 0 - benign(0.026) tolerated(0.33) neutral(0.025) NULL NUP210L 91181 genome.wustl.edu 37 1 154000006 154000006 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_207308.2 -1 validated p.S1308Y 1.000 222 0% 469 31.3% 1 100% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL NUP210L 91181 genome.wustl.edu 37 1 154101760 154101760 + Silent SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_207308.2 -1 validated p.G357 1.000 137 0% 338 35.8% 0 - - - - NULL NUP210L 91181 genome.wustl.edu 37 1 154112327 154112327 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_207308.2 -1 validated p.R223I 1.000 254 0% 489 37% 0 - benign(0.314) deleterious(0.01) deleterious(0.504) NULL NUP210L 91181 genome.wustl.edu 37 1 154113926 154113926 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_207308.2 -1 validated p.E183* 1.000 141 0% 259 31.7% 1 0% - - - NULL ATP8B2 57198 genome.wustl.edu 37 1 154317606 154317606 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020452.3 +1 reviewed p.A849T 0.998 127 0% 293 36.2% 11 45.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Hydrolase_3,superfamily_SSF56784,superfamily_SSF81665 ATP8B2 57198 genome.wustl.edu 37 1 154318296 154318296 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020452.3 +1 reviewed p.F938L 1.000 122 0% 159 35.2% 14 28.5% benign(0.024) tolerated(0.21) neutral(0.045) superfamily_SSF81665 KCNN3 3782 genome.wustl.edu 37 1 154698430 154698430 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002249.4 -1 reviewed p.V555I 1.000 186 0% 237 32.9% 1 0% possibly_damaging(0.701) deleterious(0) deleterious(0.697) superfamily_Small-conductance potassium channel,superfamily_Voltage-gated potassium channels PBXIP1 57326 genome.wustl.edu 37 1 154918103 154918103 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020524.2 -1 provisional p.D683Y 1.000 80 0% 136 27.2% 123 30.8% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL PBXIP1 57326 genome.wustl.edu 37 1 154920792 154920792 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020524.2 -1 provisional p.V154M 0.003 15 0% 29 37.9% 56 51.7% benign(0.011) tolerated(0.13) neutral(0.253) NULL PBXIP1 57326 genome.wustl.edu 37 1 154924298 154924298 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020524.2 -1 provisional p.E51K 0.146 127 0% 189 31.7% 40 22.5% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL DCST2 127579 genome.wustl.edu 37 1 155005583 155005583 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144622.2 -1 validated p.K142N 0.894 43 0% 47 29.8% 0 - possibly_damaging(0.923) deleterious(0.04) deleterious(0.722) NULL DCST1 149095 genome.wustl.edu 37 1 155018860 155018860 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152494.2 +1 validated p.P465S 0.996 171 0% 270 32.2% 1 0% benign(0.007) tolerated(0.78) neutral(0.001) HMMPfam_DC_STAMP ADAM15 8751 genome.wustl.edu 37 1 155031240 155031240 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_207197.1 +1 reviewed p.R658* 0.974 120 0% 269 29.4% 68 4.4% - - - HMMPfam_EGF_2 KRTCAP2 200185 genome.wustl.edu 37 1 155141923 155141923 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173852.3 -1 validated p.R161K 1.000 200 0% 472 33.9% 204 39.2% benign(0.002) tolerated(0.54) neutral(0.007) NULL TRIM46 80128 genome.wustl.edu 37 1 155150701 155150701 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025058.3 +1 validated p.F378C 1.000 22 0% 46 21.7% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL THBS3 7059 genome.wustl.edu 37 1 155166926 155166926 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007112.3 -1 reviewed p.R860* 0.018 35 0% 58 39.7% 31 25.8% - - - HMMPfam_TSP_C,superfamily_Concanavalin A-like lectins/glucanases GBA 2629 genome.wustl.edu 37 1 155207336 155207336 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000157.3 -1 reviewed p.Q265H 0.608 71 0% 192 26% 90 51.1% benign(0.001) tolerated(0.12) neutral(0.261) HMMPfam_Glyco_hydro_30,superfamily_(Trans)glycosidases SCAMP3 10067 genome.wustl.edu 37 1 155228624 155228624 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005698.2 -1 reviewed p.L170 1.000 89 0% 180 36.1% 112 39.2% - - - HMMPfam_SCAMP FDPS 2224 genome.wustl.edu 37 1 155288068 155288068 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001135821.1 +1 reviewed p.E224K 0.999 71 0% 137 37.2% 250 49.2% possibly_damaging(0.9) deleterious(0.02) deleterious(0.740) HMMPfam_polyprenyl_synt,superfamily_Terpenoid_synth RUSC1 23623 genome.wustl.edu 37 1 155291968 155291968 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001105203.1 +1 validated p.Q135R 0.995 46 0% 88 14.8% 0 - possibly_damaging(0.806) deleterious(0) deleterious(0.748) NULL ASH1L 55870 genome.wustl.edu 37 1 155307459 155307459 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018489.2 -1 reviewed p.R2963* 1.000 106 0% 156 24.4% 19 42.1% - - - NULL ASH1L 55870 genome.wustl.edu 37 1 155340768 155340768 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018489.2 -1 reviewed p.I2113 1.000 121 0% 226 27% 7 28.5% - - - HMMSmart_SM00570,superfamily_SET domain ASH1L 55870 genome.wustl.edu 37 1 155452138 155452138 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018489.2 -1 reviewed p.S175P 0.997 142 0% 256 33.6% 0 - benign(0) tolerated(0.19) neutral(0.050) NULL YY1AP1 55249 genome.wustl.edu 37 1 155630572 155630572 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_139118.1 -1 reviewed p.E423K 0.018 250 0% 345 40% 58 44.8% benign(0.313) deleterious(0.01) deleterious(0.503) NULL GON4L 54856 genome.wustl.edu 37 1 155735028 155735028 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001037533.1 -1 validated p.K1412N 0.005 102 0% 180 37.2% 7 14.2% benign(0.174) deleterious(0.01) neutral(0.422) NULL KIAA0907 22889 genome.wustl.edu 37 1 155884080 155884080 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014949.2 -1 predicted p.E559 0.990 131 0% 234 34.6% 34 64.7% - - - NULL ARHGEF2 9181 genome.wustl.edu 37 1 155932766 155932766 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004723.3 -1 validated p.R283 0.611 57 0% 107 43.9% 41 46.3% - - - HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) ARHGEF2 9181 genome.wustl.edu 37 1 155932863 155932863 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004723.3 -1 validated p.L251P 0.963 68 0% 128 36.7% 35 20% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) LMNA 4000 genome.wustl.edu 37 1 156106031 156106031 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_170707.2 +1 reviewed p.S395L 1.000 40 0% 83 33.7% 356 37.3% benign(0.364) tolerated(0.08) neutral(0.416) superfamily_Lamin A/C globular tail domain SMG5 23381 genome.wustl.edu 37 1 156235862 156235862 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015327.2 -1 validated p.R522Q 0.997 73 0% 111 21.6% 32 46.8% probably_damaging(0.999) tolerated(0.59) deleterious(0.495) NULL SMG5 23381 genome.wustl.edu 37 1 156244470 156244470 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015327.2 -1 validated p.K154N 1.000 158 0% 319 31.3% 29 27.5% benign(0.055) tolerated(0.32) neutral(0.028) HMMPfam_EST1 TMEM79 84283 genome.wustl.edu 37 1 156261321 156261321 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032323.2 +1 validated p.E373K 0.783 23 0% 32 25% 20 20% possibly_damaging(0.916) tolerated(0.11) deleterious(0.639) NULL RHBG 57127 genome.wustl.edu 37 1 156354849 156354849 + RNA SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NR_026549.1 +1 reviewed NULL 0.003 7 0.000 6 0.667 0 - - - - - IQGAP3 128239 genome.wustl.edu 37 1 156510675 156510675 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178229.4 -1 validated p.R855H 0.971 71 0% 146 28.1% 3 100% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL BCAN 63827 genome.wustl.edu 37 1 156618580 156618580 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021948.3 +1 validated p.K330 1.000 24 0% 34 29.4% 0 - - - - HMMPfam_Xlink,HMMSmart_SM00445,superfamily_C-type lectin-like BCAN 63827 genome.wustl.edu 37 1 156622108 156622108 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021948.3 +1 validated p.E456* 0.998 39 0% 108 40.7% 0 - - - - NULL NES 10763 genome.wustl.edu 37 1 156641994 156641994 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006617.1 -1 reviewed p.E662D 0.011 122 0% 149 31.5% 7 14.2% probably_damaging(0.998) deleterious(0.05) deleterious(0.820) NULL NES 10763 genome.wustl.edu 37 1 156642895 156642895 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006617.1 -1 reviewed p.A362V 0.307 73 0% 174 32.2% 23 8.6% benign(0.335) deleterious(0) deleterious(0.550) NULL NES 10763 genome.wustl.edu 37 1 156646444 156646444 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006617.1 -1 reviewed p.G205C 1.000 8 0.000 6 0.833 0 - possibly_damaging(0.672) deleterious(0) deleterious(0.682) HMMPfam_Filament INSRR 3645 genome.wustl.edu 37 1 156812025 156812025 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014215.1 -1 validated p.M1092I 1.000 141 0% 254 33.5% 0 - possibly_damaging(0.455) tolerated(0.64) neutral(0.152) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like NTRK1 4914 genome.wustl.edu 37 1 156830924 156830924 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002529.3 +1 reviewed p.E66D 1.000 5 0.000 7 0.714 0 - benign(0) tolerated(0.31) neutral(0.027) superfamily_L domain-like ARHGEF11 9826 genome.wustl.edu 37 1 156912497 156912497 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198236.1 -1 reviewed p.S1104* 0.721 209 0% 416 30.5% 19 21% - - - HMMSmart_PH,superfamily_SSF50729 ETV3L 440695 genome.wustl.edu 37 1 157062520 157062520 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004341.2 -1 validated p.R336K 0.000 114 0% 175 31.4% 0 - benign(0.006) tolerated(0.84) neutral(0.001) NULL ETV3 2117 genome.wustl.edu 37 1 157103875 157103875 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005240.1 -1 validated p.N143K 0.003 253 0% 332 24.7% 0 - benign(0) - - superfamily_SSF46785 FCRL5 83416 genome.wustl.edu 37 1 157512918 157512918 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031281.2 -1 validated p.S285Y 0.016 101 0% 177 31.1% 0 - probably_damaging(0.994) deleterious(0.01) deleterious(0.858) NULL FCRL2 79368 genome.wustl.edu 37 1 157739822 157739822 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030764.3 -1 reviewed p.F143L 0.001 100 0% 136 28.7% 0 - probably_damaging(0.995) deleterious(0.03) deleterious(0.822) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin KIRREL 55243 genome.wustl.edu 37 1 158064535 158064535 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018240.5 +1 validated p.F633 0.994 28 0% 28 35.7% 4 0% - - - NULL KIRREL 55243 genome.wustl.edu 37 1 158064536 158064536 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018240.5 +1 validated p.D634N 1.000 28 0% 29 44.8% 4 0% possibly_damaging(0.907) tolerated(0.18) neutral(0.416) NULL KIRREL 55243 genome.wustl.edu 37 1 158064898 158064898 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018240.5 +1 validated p.Q754H 1.000 49 0% 79 30.4% 3 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL CD1C 911 genome.wustl.edu 37 1 158260923 158260923 + Splice_Site SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001765.2 +1 reviewed e2-1 0.000 83 0% 124 38.7% 0 - - - - - CD1C 911 genome.wustl.edu 37 1 158261173 158261173 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001765.2 +1 reviewed p.S104I 0.000 93 0% 148 28.4% 0 - benign(0.209) tolerated(0.13) neutral(0.273) HMMPfam_MHC_I,superfamily_MHC_I/II-like_Ag-recog CD1C 911 genome.wustl.edu 37 1 158262456 158262456 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000443761 +1 known p.L162I 0.026 132 0% 200 39.5% 0 - - - - HMMPfam_C1-set,HMMSmart_SM00407,superfamily_Immunoglobulin CD1E 913 genome.wustl.edu 37 1 158325257 158325257 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030893.2 +1 reviewed p.Y175D 0.035 128 0% 214 34.1% 0 - benign(0.019) tolerated(0.25) neutral(0.038) superfamily_MHC antigen-recognition domain OR10K1 391109 genome.wustl.edu 37 1 158435561 158435561 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004473.1 +1 provisional p.E70D 0.521 329 0% 378 33.3% 0 - probably_damaging(0.999) tolerated(0.17) deleterious(0.549) HMMPfam_7tm_1,superfamily_SSF81321 OR10R2 343406 genome.wustl.edu 37 1 158450236 158450236 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004472.1 +1 provisional p.S190N 0.132 209 0% 188 27.7% 0 - benign(0) tolerated(0.4) neutral(0.016) HMMPfam_7tm_1,superfamily_SSF81321 OR6Y1 391112 genome.wustl.edu 37 1 158517683 158517683 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005189.1 -1 provisional p.L71 0.493 83 0% 88 34.1% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR6P1 128366 genome.wustl.edu 37 1 158532543 158532543 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000334632 -1 known p.F284L 0.043 188 0% 264 20.8% 0 - benign(0.001) tolerated(1) - HMMPfam_7tm_1,superfamily_SSF81321 SPTA1 6708 genome.wustl.edu 37 1 158587332 158587332 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003126.2 -1 reviewed p.N2199H 1.000 289 0% 203 33% 0 - possibly_damaging(0.945) tolerated(0.12) deleterious(0.650) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SPTA1 6708 genome.wustl.edu 37 1 158590146 158590146 + Missense_Mutation SNP T T A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003126.2 -1 reviewed p.E2077D 0.999 159 0% 150 38% 0 - probably_damaging(0.985) deleterious(0.01) deleterious(0.838) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SPTA1 6708 genome.wustl.edu 37 1 158607881 158607881 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003126.2 -1 reviewed p.E1711* 1.000 219 0% 182 25.8% 0 - - - - HMMPfam_Spectrin,superfamily_Spectrin repeat SPTA1 6708 genome.wustl.edu 37 1 158607954 158607954 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003126.2 -1 reviewed p.K1686N 1.000 214 0% 164 31.1% 0 - benign(0.001) tolerated(0.07) neutral(0.319) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SPTA1 6708 genome.wustl.edu 37 1 158615057 158615057 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003126.2 -1 reviewed p.A1372V 0.002 195 0% 175 30.9% 0 - benign(0.007) tolerated(0.28) neutral(0.032) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SPTA1 6708 genome.wustl.edu 37 1 158617352 158617352 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003126.2 -1 reviewed p.F1291L 1.000 137 0% 143 35.7% 0 - benign(0) tolerated(1) - HMMPfam_Spectrin,superfamily_Spectrin repeat SPTA1 6708 genome.wustl.edu 37 1 158632602 158632602 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003126.2 -1 reviewed p.R785Q 0.997 224 0% 232 35.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SPTA1 6708 genome.wustl.edu 37 1 158636234 158636234 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003126.2 -1 reviewed p.D698Y 1.000 108 0% 82 36.6% 0 - possibly_damaging(0.929) deleterious(0) deleterious(0.821) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat OR6K2 81448 genome.wustl.edu 37 1 158670383 158670383 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005279.1 -1 provisional p.S20 0.235 118 0% 238 26.9% 0 - - - - superfamily_Family A G protein-coupled receptor-like OR6K6 128371 genome.wustl.edu 37 1 158724777 158724777 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005184.1 +1 provisional p.P58S 0.001 204 0% 255 32.9% 0 - benign(0.408) tolerated(0.12) neutral(0.393) superfamily_Family A G protein-coupled receptor-like OR6N2 81442 genome.wustl.edu 37 1 158747103 158747103 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005278.1 -1 provisional p.G108E 0.988 130 0% 157 28.7% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_7tm_1,superfamily_SSF81321 MNDA 4332 genome.wustl.edu 37 1 158812154 158812154 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002432.1 +1 reviewed p.D71Y 0.000 175 0% 155 25.8% 2 0% probably_damaging(0.988) deleterious(0.01) deleterious(0.843) HMMPfam_PAAD_DAPIN PYHIN1 149628 genome.wustl.edu 37 1 158908891 158908891 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152501.3 +1 validated p.E145* 0.000 131 0% 202 33.7% 0 - - - - NULL PYHIN1 149628 genome.wustl.edu 37 1 158912067 158912067 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152501.3 +1 validated p.P294T 0.000 97 0% 94 39.4% 2 0% probably_damaging(0.99) tolerated(0.17) deleterious(0.500) HMMPfam_HIN IFI16 3428 genome.wustl.edu 37 1 158985683 158985683 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005531.2 +1 reviewed p.R96I 0.000 126 0% 182 33.5% 7 0% possibly_damaging(0.727) tolerated(0.06) deleterious(0.587) NULL AIM2 9447 genome.wustl.edu 37 1 159033323 159033323 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004833.1 -1 reviewed p.N320H 0.000 364 0% 509 35% 0 - possibly_damaging(0.745) tolerated(0.13) deleterious(0.526) NULL FCER1A 2205 genome.wustl.edu 37 1 159277567 159277567 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002001.2 +1 reviewed p.F207V 0.000 167 0% 111 32.4% 0 - benign(0.002) tolerated(0.58) neutral(0.005) NULL OR10J3 441911 genome.wustl.edu 37 1 159283652 159283652 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004467.1 -1 provisional p.Q266H 0.997 161 0% 210 36.2% 0 - benign(0.023) tolerated(0.06) neutral(0.324) HMMPfam_7tm_1,superfamily_SSF81321 OR10J3 441911 genome.wustl.edu 37 1 159284366 159284366 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004467.1 -1 provisional p.F28L 0.343 179 0% 239 31% 0 - benign(0.001) tolerated(0.89) - superfamily_SSF81321 OR10J1 26476 genome.wustl.edu 37 1 159410479 159410479 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012351.2 +1 validated p.L311M 0.339 108 0% 113 41.6% 0 - benign(0.192) tolerated(0.06) neutral(0.341) superfamily_Family A G protein-coupled receptor-like APCS 325 genome.wustl.edu 37 1 159558033 159558033 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001639.3 +1 reviewed p.F69 1.000 230 0% 231 23.4% 0 - - - - HMMPfam_Pentaxin,HMMSmart_PTX,superfamily_ConA_like_lec_gl APCS 325 genome.wustl.edu 37 1 159558332 159558332 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001639.3 +1 reviewed p.F169S 1.000 369 0% 385 29.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pentaxin,HMMSmart_PTX,superfamily_ConA_like_lec_gl APCS 325 genome.wustl.edu 37 1 159558431 159558431 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001639.3 +1 reviewed p.L202P 0.479 225 0% 234 35% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pentaxin,HMMSmart_PTX,superfamily_ConA_like_lec_gl CRP 1401 genome.wustl.edu 37 1 159683729 159683729 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000567.2 -1 reviewed p.K87N 0.001 238 0% 326 31.9% 0 - benign(0.139) tolerated(0.2) neutral(0.061) HMMPfam_Pentaxin,HMMSmart_SM00159,superfamily_Concanavalin A-like lectins/glucanases CRP 1401 genome.wustl.edu 37 1 159683896 159683896 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000567.2 -1 reviewed p.E32* 0.018 92 0% 175 33.1% 0 - - - - HMMPfam_Pentaxin,HMMSmart_SM00159,superfamily_Concanavalin A-like lectins/glucanases FCRL6 343413 genome.wustl.edu 37 1 159779355 159779355 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004310.2 +1 validated p.G256 0.000 126 0% 141 38.3% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin CCDC19 25790 genome.wustl.edu 37 1 159842948 159842948 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012337.2 -1 validated p.E455* 0.996 109 0% 182 36.8% 2 100% - - - NULL IGSF9 57549 genome.wustl.edu 37 1 159906609 159906609 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001135050.1 -1 validated p.P164S 1.000 64 0% 76 23.7% 21 38% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 KCNJ10 3766 genome.wustl.edu 37 1 160012315 160012315 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002241.3 -1 reviewed p.S3* 0.958 80 0% 96 40.6% 0 - - - - NULL ATP1A2 477 genome.wustl.edu 37 1 160097551 160097551 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000702.3 +1 reviewed p.I320L 1.000 83 0% 130 31.5% 0 - benign(0.029) tolerated(0.13) neutral(0.254) HMMPfam_E1-E2_ATPase,superfamily_SSF81665 ATP1A2 477 genome.wustl.edu 37 1 160098815 160098815 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000702.3 +1 reviewed p.R421Q 0.988 98 0% 90 25.6% 0 - possibly_damaging(0.468) tolerated(0.09) neutral(0.450) HMMPfam_Hydrolase,superfamily_SSF56784,superfamily_SSF81660,superfamily_SSF81665 ATP1A2 477 genome.wustl.edu 37 1 160105036 160105036 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000702.3 +1 reviewed p.R689Q 1.000 82 0% 137 38% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Hydrolase,superfamily_SSF56784,superfamily_SSF81665 CASQ1 844 genome.wustl.edu 37 1 160169663 160169663 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001231.4 +1 reviewed p.T330M 1.000 278 0% 511 33.7% 1 100% probably_damaging(0.997) tolerated(0.25) deleterious(0.503) HMMPfam_Calsequestrin,superfamily_Thiordxn-like_fd DCAF8 50717 genome.wustl.edu 37 1 160206928 160206928 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015726.3 -1 reviewed p.A319V 1.000 73 0% 119 39.5% 24 20.8% benign(0.004) deleterious(0.04) neutral(0.349) superfamily_WD40 repeat-like DCAF8 50717 genome.wustl.edu 37 1 160213774 160213774 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015726.3 -1 reviewed p.D9N 1.000 237 0% 520 29.6% 20 25% benign(0.004) tolerated(0.83) neutral(0.001) NULL COPA 1314 genome.wustl.edu 37 1 160267364 160267364 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001098398.1 -1 reviewed p.R726C 1.000 108 0% 187 64.2% 60 76.6% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) HMMPfam_Coatomer_WDAD COPA 1314 genome.wustl.edu 37 1 160269028 160269028 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001098398.1 -1 reviewed p.D574G 1.000 128 0% 242 31.8% 72 22.2% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_Coatomer_WDAD SLAMF7 57823 genome.wustl.edu 37 1 160719708 160719708 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021181.3 +1 provisional p.E158D 0.951 63 0% 88 26.1% 5 0% probably_damaging(0.999) tolerated(0.27) deleterious(0.524) NULL LY9 4063 genome.wustl.edu 37 1 160769724 160769724 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002348.2 +1 validated p.S102 0.000 79 0% 132 34.8% 1 0% - - - HMMSmart_SM00409,superfamily_Immunoglobulin LY9 4063 genome.wustl.edu 37 1 160784424 160784424 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002348.2 +1 validated p.V315 0.128 57 0% 76 25% 0 - - - - HMMSmart_SM00409,superfamily_Immunoglobulin TSTD1 100131187 genome.wustl.edu 37 1 161007802 161007802 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001113207.1 -1 validated p.E66G 0.883 56 0% 78 33.3% 15 0% benign(0) tolerated(0.24) neutral(0.037) HMMPfam_Rhodanese,HMMSmart_SM00450,superfamily_Rhodanese/Cell cycle control phosphatase ARHGAP30 257106 genome.wustl.edu 37 1 161017882 161017882 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001025598.1 -1 validated p.E977* 0.968 54 0% 98 31.6% 11 0% - - - NULL ARHGAP30 257106 genome.wustl.edu 37 1 161018349 161018349 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001025598.1 -1 validated p.R821I 0.010 279 0% 551 39% 13 0% possibly_damaging(0.66) tolerated(0.06) deleterious(0.555) NULL ARHGAP30 257106 genome.wustl.edu 37 1 161021228 161021228 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001025598.1 -1 validated p.P432 0.483 63 0% 126 37.3% 10 0% - - - NULL ADAMTS4 9507 genome.wustl.edu 37 1 161161935 161161935 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005099.4 -1 reviewed p.K669N 1.000 55 0% 120 41.7% 7 0% benign(0.078) tolerated(0.12) neutral(0.266) NULL FCER1G 2207 genome.wustl.edu 37 1 161187860 161187860 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004106.1 +1 reviewed p.R45Q 1.000 175 0% 226 35% 67 0% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL NR1I3 9970 genome.wustl.edu 37 1 161202981 161202981 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001077482.1 -1 reviewed p.F129S 0.998 200 0% 354 31.1% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Str_ncl_receptor SDHC 6391 genome.wustl.edu 37 1 161326471 161326471 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003001.3 +1 reviewed p.V82 0.992 287 0% 469 32% 97 45.3% - - - HMMPfam_Sdh_cyt,superfamily_SSF81343 SDHC 6391 genome.wustl.edu 37 1 161332312 161332312 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001035511.1 +1 reviewed p.K145 0.000 249 0% 519 15.6% 96 51% - - - NULL FCRLA 84824 genome.wustl.edu 37 1 161681932 161681932 + Silent SNP G G C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032738.3 +1 reviewed p.G253 0.819 80 0% 94 33% 0 - - - - HMMSmart_IG,HMMPfam_ig,superfamily_SSF48726 ATF6 22926 genome.wustl.edu 37 1 161789542 161789542 + Silent SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007348.2 +1 validated p.S343 0.184 107 0% 181 34.8% 26 23% - - - HMMSmart_BRLZ,HMMPfam_bZIP_1 NOS1AP 9722 genome.wustl.edu 37 1 162326815 162326815 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014697.2 +1 reviewed p.S276 0.006 89 0% 86 24.4% 3 33.3% - - - NULL NOS1AP 9722 genome.wustl.edu 37 1 162335153 162335153 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001126060.1 +1 reviewed p.S5Y 0.001 157 0% 185 29.7% 0 - unknown(0) - - NULL C1orf111 284680 genome.wustl.edu 37 1 162344216 162344216 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182581.3 -1 validated p.E136D 0.984 117 0% 112 29.5% 0 - benign(0.001) tolerated(0.38) neutral(0.018) NULL SH2D1B 117157 genome.wustl.edu 37 1 162368786 162368786 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_053282.4 -1 validated p.L97R 0.110 201 0% 283 22.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SH2 domain SH2D1B 117157 genome.wustl.edu 37 1 162368848 162368848 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_053282.4 -1 validated p.F76L 0.799 177 0% 211 28.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain UHMK1 127933 genome.wustl.edu 37 1 162487912 162487912 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_175866.4 +1 reviewed p.E349* 1.000 207 0% 373 34.3% 4 0% - - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD DDR2 4921 genome.wustl.edu 37 1 162745466 162745466 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001014796.1 +1 reviewed p.K627N 1.000 158 0% 142 37.3% 4 0% probably_damaging(0.988) tolerated(0.09) deleterious(0.734) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like HSD17B7 51478 genome.wustl.edu 37 1 162773259 162773259 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016371.2 +1 validated p.L227F 1.000 331 0% 265 27.2% 13 53.8% benign(0.308) tolerated(0.66) neutral(0.099) superfamily_NAD(P)-binding Rossmann-fold domains RGS4 5999 genome.wustl.edu 37 1 163044247 163044247 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001102445.2 +1 reviewed p.R269Q 0.346 240 0% 135 32.6% 8 0% benign(0.038) tolerated(0.31) neutral(0.029) HMMPfam_RGS,HMMSmart_RGS,superfamily_Regulat_G_prot_signal_superfam LRRC52 440699 genome.wustl.edu 37 1 165532833 165532833 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005214.3 +1 validated p.T238 0.992 81 1.2% 110 35.5% 0 - - - - NULL TADA1 117143 genome.wustl.edu 37 1 166827357 166827357 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_053053.3 -1 validated p.Q285R 1.000 110 0% 157 31.2% 5 80% possibly_damaging(0.912) deleterious(0.03) deleterious(0.728) NULL TADA1 117143 genome.wustl.edu 37 1 166829473 166829473 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_053053.3 -1 validated p.P214 0.286 191 0% 159 28.9% 10 50% - - - NULL MAEL 84944 genome.wustl.edu 37 1 166958650 166958650 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032858.1 +1 validated p.E21K 0.998 49 0% 57 29.8% 3 66.6% benign(0.013) tolerated(0.13) neutral(0.253) superfamily_HMG-box,HMMPfam_DUF1898 MAEL 84944 genome.wustl.edu 37 1 166959016 166959016 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032858.1 +1 validated p.R59* 1.000 35 0% 56 23.2% 0 - - - - superfamily_HMG-box,HMMPfam_DUF1898 GPA33 10223 genome.wustl.edu 37 1 167023597 167023597 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005814.1 -1 reviewed p.E312* 0.000 150 0% 245 39.2% 0 - - - - NULL DUSP27 92235 genome.wustl.edu 37 1 167095196 167095196 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080426.1 +1 provisional p.E276D 1.000 98 0% 180 29.4% 1 100% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_DSPc,HMMSmart_DSPc,superfamily_SSF52799 DUSP27 92235 genome.wustl.edu 37 1 167095564 167095564 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080426.1 +1 provisional p.R399Q 0.999 47 0% 104 33.7% 0 - possibly_damaging(0.829) tolerated(0.21) neutral(0.358) NULL POU2F1 5451 genome.wustl.edu 37 1 167367341 167367341 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002697.2 +1 provisional p.R391C 1.000 217 0% 397 38.5% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like POU2F1 5451 genome.wustl.edu 37 1 167381285 167381285 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002697.2 +1 provisional p.P526S 0.999 104 0% 174 29.3% 4 50% unknown(0) tolerated(0.14) - NULL RCSD1 92241 genome.wustl.edu 37 1 167666434 167666434 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_052862.3 +1 validated p.E191 0.000 65 0% 147 36.7% 1 0% - - - NULL ADCY10 55811 genome.wustl.edu 37 1 167802308 167802308 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018417.4 -1 reviewed p.I1170 0.899 227 0.4% 360 28.1% 0 - - - - superfamily_TPR-like ADCY10 55811 genome.wustl.edu 37 1 167815319 167815319 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018417.4 -1 reviewed p.R874W 0.502 80 0% 115 37.4% 0 - probably_damaging(0.992) deleterious(0.02) deleterious(0.831) NULL ADCY10 55811 genome.wustl.edu 37 1 167815357 167815357 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018417.4 -1 reviewed p.L861P 1.000 81 0% 138 34.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ADCY10 55811 genome.wustl.edu 37 1 167830176 167830176 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018417.4 -1 reviewed p.R581Q 0.026 378 0% 595 32.3% 0 - benign(0.001) tolerated(0.34) neutral(0.023) NULL BRP44 25874 genome.wustl.edu 37 1 167889261 167889261 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001143674.1 -1 validated p.F101L 1.000 74 0% 113 25.7% 96 34.3% benign(0.001) tolerated(1) - HMMPfam_UPF0041 DCAF6 55827 genome.wustl.edu 37 1 167921041 167921041 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018442.2 +1 validated p.R34I 1.000 92 0% 104 31.7% 6 0% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL DCAF6 55827 genome.wustl.edu 37 1 167921046 167921046 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018442.2 +1 validated p.E36K 1.000 94 0% 115 33% 6 66.6% probably_damaging(0.99) tolerated(0.06) deleterious(0.764) NULL TBX19 9095 genome.wustl.edu 37 1 168266966 168266966 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005149.2 +1 reviewed p.T203M 1.000 201 0% 309 31.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_T-box,HMMSmart_TBOX,superfamily_P53_like_DNA_bnd XCL2 6846 genome.wustl.edu 37 1 168510297 168510297 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003175.3 -1 validated p.V80M 0.002 436 0% 465 36.6% 1 0% benign(0.003) tolerated(0.21) neutral(0.044) HMMPfam_IL8,HMMSmart_SCY,superfamily_Chemokine_IL8 XCL2 6846 genome.wustl.edu 37 1 168511245 168511245 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003175.3 -1 validated p.S54 0.997 178 0.6% 179 36.3% 3 33.3% - - - HMMPfam_IL8,HMMSmart_SCY,superfamily_Chemokine_IL8 ATP1B1 481 genome.wustl.edu 37 1 169080697 169080697 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001677.3 +1 reviewed p.E63* 1.000 174 0% 198 28.8% 62 8% - - - HMMPfam_Na_K-ATPase BLZF1 8548 genome.wustl.edu 37 1 169346071 169346071 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003666.2 +1 validated p.E108* 1.000 155 0% 91 36.3% 3 0% - - - NULL BLZF1 8548 genome.wustl.edu 37 1 169347574 169347574 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003666.2 +1 validated p.R159C 1.000 231 0% 149 28.2% 2 50% probably_damaging(0.999) tolerated(0.08) deleterious(0.790) NULL BLZF1 8548 genome.wustl.edu 37 1 169351462 169351462 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003666.2 +1 validated p.K320N 0.990 129 0% 128 35.2% 4 75% benign(0.201) deleterious(0.02) neutral(0.402) NULL F5 2153 genome.wustl.edu 37 1 169495154 169495154 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000130.4 -1 reviewed p.L1901I 0.987 200 0.5% 148 36.5% 0 - probably_damaging(0.985) deleterious(0.02) deleterious(0.815) superfamily_Cupredoxins F5 2153 genome.wustl.edu 37 1 169498849 169498849 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000130.4 -1 reviewed p.H1806N 1.000 191 0% 189 31.7% 0 - benign(0.379) deleterious(0) deleterious(0.566) superfamily_Cupredoxins F5 2153 genome.wustl.edu 37 1 169510579 169510579 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000130.4 -1 reviewed p.S1250Y 0.001 614 0% 836 33% 0 - possibly_damaging(0.926) deleterious(0) deleterious(0.819) HMMPfam_LSPR F5 2153 genome.wustl.edu 37 1 169511252 169511252 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000130.4 -1 reviewed p.L1026I 0.000 129 0% 153 31.4% 0 - benign(0.4) tolerated(0.26) neutral(0.163) NULL F5 2153 genome.wustl.edu 37 1 169519911 169519911 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000130.4 -1 reviewed p.Y455H 0.019 161 0% 248 30.6% 0 - possibly_damaging(0.902) tolerated(0.07) deleterious(0.676) superfamily_Cupredoxins F5 2153 genome.wustl.edu 37 1 169524494 169524494 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000130.4 -1 reviewed p.K348N 0.628 277 0% 293 23.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Cupredoxins SELP 6403 genome.wustl.edu 37 1 169581523 169581523 + Nonsense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003005.3 -1 reviewed p.L298* 0.001 116 0% 145 33.8% 1 0% - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain METTL18 92342 genome.wustl.edu 37 1 169762116 169762116 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033418.1 -1 provisional p.E241* 0.745 202 0% 296 26.7% 14 42.8% - - - HMMPfam_Methyltransf_16,superfamily_S-adenosyl-L-methionine-dependent methyltransferases METTL18 92342 genome.wustl.edu 37 1 169762201 169762201 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033418.1 -1 provisional p.E212D 1.000 144 0% 158 31% 15 40% probably_damaging(0.963) tolerated(0.26) neutral(0.440) HMMPfam_Methyltransf_16,superfamily_S-adenosyl-L-methionine-dependent methyltransferases C1orf112 55732 genome.wustl.edu 37 1 169801601 169801601 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018186.2 +1 predicted p.S498L 0.514 259 0% 297 32% 12 41.6% possibly_damaging(0.654) tolerated(0.23) neutral(0.272) NULL SCYL3 57147 genome.wustl.edu 37 1 169836109 169836109 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_181093.2 -1 validated p.D248A 1.000 156 0% 153 28.8% 2 50% probably_damaging(0.971) deleterious(0.01) deleterious(0.819) superfamily_ARM repeat KIFAP3 22920 genome.wustl.edu 37 1 169947281 169947281 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014970.2 -1 reviewed p.V614 1.000 279 0% 209 36.8% 2 0% - - - HMMSmart_SM00185,HMMPfam_KAP,superfamily_ARM repeat KIFAP3 22920 genome.wustl.edu 37 1 169951125 169951125 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014970.2 -1 reviewed p.E596* 1.000 171 0% 194 32.5% 3 33.3% - - - HMMSmart_SM00185,HMMPfam_KAP,superfamily_ARM repeat KIFAP3 22920 genome.wustl.edu 37 1 169951979 169951979 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014970.2 -1 reviewed p.I512 0.939 119 0% 91 38.5% 3 0% - - - HMMPfam_KAP,superfamily_ARM repeat KIFAP3 22920 genome.wustl.edu 37 1 170003537 170003537 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014970.2 -1 reviewed p.E240* 1.000 225 0% 195 27.2% 2 0% - - - HMMPfam_KAP,superfamily_ARM repeat PRRX1 5396 genome.wustl.edu 37 1 170695426 170695426 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022716.2 +1 reviewed p.N161 0.553 97 0% 93 33.3% 16 25% - - - superfamily_Homeodomain-like LOC646804 646804 genome.wustl.edu 37 1 171052720 171052720 + Missense_Mutation SNP G G A rs34945871 TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_929761.3 +1 model p.A30T 1.000 67 0% 50 24% 0 - - - - NULL FMO3 2328 genome.wustl.edu 37 1 171073019 171073019 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001002294.2 +1 reviewed p.D76N 0.980 273 0.4% 296 41.6% 0 - probably_damaging(0.979) deleterious(0.02) deleterious(0.805) HMMPfam_FMO-like,superfamily_FAD/NAD(P)-binding domain FMO1 2326 genome.wustl.edu 37 1 171227237 171227237 + Missense_Mutation SNP G G A rs182525482 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002021.1 +1 reviewed p.R4Q 0.243 105 0% 154 40.3% 0 - probably_damaging(0.96) tolerated(0.07) deleterious(0.722) HMMPfam_FMO-like,superfamily_FAD/NAD(P)-binding domain PRRC2C 23215 genome.wustl.edu 37 1 171482143 171482143 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015172.3 +1 validated p.R39Q 1.000 142 0% 167 29.3% 5 20% unknown(0) - - HMMPfam_BAT2_N PRRC2C 23215 genome.wustl.edu 37 1 171511038 171511038 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015172.3 +1 validated p.S1476F 1.000 53 0% 85 35.3% 14 64.2% unknown(0) - - NULL PRRC2C 23215 genome.wustl.edu 37 1 171544202 171544202 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015172.3 +1 validated p.S2295L 0.953 231 0% 321 29.9% 18 22.2% probably_damaging(0.998) - - NULL DNM3 26052 genome.wustl.edu 37 1 172100371 172100371 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015569.3 +1 validated p.S534 0.196 235 0% 163 44.2% 3 33.3% - - - HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 C1orf9 51430 genome.wustl.edu 37 1 172526430 172526430 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014283.3 +1 validated p.K152Q 1.000 129 0% 108 42.6% 1 0% benign(0.288) deleterious(0.01) deleterious(0.494) NULL C1orf9 51430 genome.wustl.edu 37 1 172526506 172526506 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014283.3 +1 validated p.L177R 0.003 153 0% 146 32.9% 0 - possibly_damaging(0.929) tolerated(0.21) neutral(0.420) NULL FASLG 356 genome.wustl.edu 37 1 172628400 172628400 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000639.1 +1 reviewed p.S20N 0.068 118 0% 95 24.2% 2 0% benign(0) deleterious(0.03) neutral(0.364) NULL TNFSF18 8995 genome.wustl.edu 37 1 173010566 173010566 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005092.3 -1 reviewed p.L181I 0.024 247 0% 205 32.2% 0 - benign(0.014) tolerated(0.32) neutral(0.025) HMMPfam_TNF,superfamily_TNF_like TNFSF18 8995 genome.wustl.edu 37 1 173019892 173019892 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005092.3 -1 reviewed p.L71I 0.000 118 0% 134 33.6% 0 - benign(0.158) tolerated(0.21) neutral(0.058) superfamily_TNF_like LOC646870 646870 genome.wustl.edu 37 1 173332578 173332578 + RNA SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XR_040282.2 -1 model NULL 0.034 35 0% 32 40.6% 0 - - - - - SLC9A11 284525 genome.wustl.edu 37 1 173490467 173490467 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178527.3 -1 validated p.I904 1.000 112 0% 101 31.7% 0 - - - - HMMPfam_cNMP_binding,HMMSmart_cNMP,superfamily_cNMP_binding ANKRD45 339416 genome.wustl.edu 37 1 173628341 173628341 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198493.2 -1 validated p.E73* 1.000 211 0% 232 37.9% 2 50% - - - superfamily_Ankyrin repeat KLHL20 27252 genome.wustl.edu 37 1 173702952 173702952 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014458.3 +1 reviewed p.R42C 1.000 109 0% 258 40.7% 4 50% benign(0.008) tolerated(0.19) neutral(0.050) NULL CENPL 91687 genome.wustl.edu 37 1 173772301 173772301 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001127181.2 -1 validated p.A301T 1.000 119 0% 196 29.1% 5 40% probably_damaging(0.956) tolerated(0.3) neutral(0.428) NULL SERPINC1 462 genome.wustl.edu 37 1 173879960 173879960 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000488.3 -1 reviewed p.D232N 0.940 244 0.4% 344 30.8% 0 - benign(0.001) tolerated(0.43) neutral(0.013) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin GPR52 9293 genome.wustl.edu 37 1 174417933 174417933 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005684.4 +1 validated p.K228N 1.000 327 0% 399 32.8% 0 - possibly_damaging(0.472) tolerated(0.11) neutral(0.427) HMMPfam_7tm_1,superfamily_SSF81321 TNR 7143 genome.wustl.edu 37 1 175335159 175335159 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003285.2 -1 validated p.S723 0.997 286 0% 371 34.5% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III TNR 7143 genome.wustl.edu 37 1 175362990 175362990 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003285.2 -1 validated p.E428* 1.000 182 0% 272 29.4% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III TNR 7143 genome.wustl.edu 37 1 175365747 175365747 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000422274 -1 known p.Q116* 1.000 166 0% 169 28.4% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III TNR 7143 genome.wustl.edu 37 1 175365922 175365922 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003285.2 -1 validated p.R333Q 1.000 53 0% 51 41.2% 0 - probably_damaging(0.995) tolerated(0.18) deleterious(0.514) HMMPfam_fn3,HMMSmart_SM00060 TNR 7143 genome.wustl.edu 37 1 175372559 175372559 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003285.2 -1 validated p.S231 0.000 92 0% 122 41% 0 - - - - HMMSmart_SM00181,superfamily_EGF/Laminin PAPPA2 60676 genome.wustl.edu 37 1 176526251 176526251 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020318.2 +1 validated p.F265L 1.000 86 0% 93 39.8% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_Concanavalin A-like lectins/glucanases PAPPA2 60676 genome.wustl.edu 37 1 176760543 176760543 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020318.2 +1 validated p.L1649M 0.999 191 0% 231 40.7% 0 - possibly_damaging(0.76) tolerated(0.29) neutral(0.310) superfamily_Complement control module/SCR domain FAM5B 57795 genome.wustl.edu 37 1 177250258 177250258 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021165.2 +1 provisional p.R649Q 1.000 50 0% 88 38.6% 3 33.3% possibly_damaging(0.867) deleterious(0.01) deleterious(0.742) NULL SEC16B 89866 genome.wustl.edu 37 1 177909803 177909803 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033127.2 -1 validated p.R690H 0.000 163 0% 164 30.5% 1 0% probably_damaging(0.994) tolerated(0.13) deleterious(0.705) NULL RASAL2 9462 genome.wustl.edu 37 1 178410759 178410759 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_170692.2 +1 reviewed p.R284C 0.980 177 0% 171 29.8% 3 33.3% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMSmart_PH,superfamily_C2_CaLB,superfamily_SSF50729 RASAL2 9462 genome.wustl.edu 37 1 178421561 178421561 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_170692.2 +1 reviewed p.R577C 1.000 232 0% 211 31.8% 6 33.3% probably_damaging(0.998) tolerated(0.06) deleterious(0.797) HMMPfam_RasGAP,HMMSmart_RasGAP,superfamily_Rho_GAP RALGPS2 55103 genome.wustl.edu 37 1 178846735 178846735 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152663.3 +1 validated p.R237Q 1.000 165 0% 157 25.5% 3 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00147,superfamily_Ras GEF ABL2 27 genome.wustl.edu 37 1 179076972 179076972 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007314.3 -1 reviewed p.E1144K 1.000 84 0% 124 34.7% 4 75% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_F_actin_bind,HMMSmart_SM00808 ABL2 27 genome.wustl.edu 37 1 179078479 179078479 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007314.3 -1 reviewed p.E641D 1.000 158 0% 223 38.6% 2 100% benign(0.105) tolerated(0.39) neutral(0.024) NULL ABL2 27 genome.wustl.edu 37 1 179100575 179100575 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007314.3 -1 reviewed p.A88T 1.000 88 0% 161 34.8% 2 0% benign(0.355) deleterious(0.03) deleterious(0.477) NULL AXDND1 126859 genome.wustl.edu 37 1 179363127 179363127 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144696.4 +1 validated p.R318H 1.000 151 0% 222 29.7% 0 - unknown(0) deleterious(0.01) - NULL AXDND1 126859 genome.wustl.edu 37 1 179363138 179363138 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144696.4 +1 validated p.E322* 1.000 149 0% 215 30.2% 0 - - - - NULL AXDND1 126859 genome.wustl.edu 37 1 179364258 179364258 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144696.4 +1 validated p.D344N 1.000 131 0% 131 34.4% 0 - unknown(0) deleterious(0.04) - NULL AXDND1 126859 genome.wustl.edu 37 1 179414309 179414309 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144696.4 +1 validated p.E590* 1.000 91 0% 156 35.3% 0 - - - - NULL AXDND1 126859 genome.wustl.edu 37 1 179497498 179497498 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144696.4 +1 validated p.R883* 0.868 162 0% 230 30.4% 0 - - - - NULL NPHS2 7827 genome.wustl.edu 37 1 179520390 179520390 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014625.2 -1 reviewed p.T357N 0.094 86 0% 77 41.6% 0 - possibly_damaging(0.925) tolerated(0.51) neutral(0.383) NULL TDRD5 163589 genome.wustl.edu 37 1 179604960 179604960 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173533.2 +1 provisional p.F486L 1.000 157 0% 170 35.3% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_TUDOR TDRD5 163589 genome.wustl.edu 37 1 179609046 179609046 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173533.2 +1 provisional p.L531 1.000 249 0.4% 318 32.7% 0 - - - - HMMSmart_SM00333,HMMPfam_TUDOR,superfamily_Tudor/PWWP/MBT TOR1AIP1 26092 genome.wustl.edu 37 1 179851954 179851954 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015602.2 +1 validated p.L106P 1.000 51 0% 78 29.5% 11 27.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CEP350 9857 genome.wustl.edu 37 1 180010367 180010367 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014810.4 +1 reviewed p.R1402Q 0.999 79 0% 98 35.7% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CEP350 9857 genome.wustl.edu 37 1 180012229 180012229 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000418229 +1 known p.R76C 0.222 244 0% 337 27.6% 3 33.3% - - - NULL ACBD6 84320 genome.wustl.edu 37 1 180257586 180257586 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032360.3 -1 validated p.R254Q 0.998 94 0% 132 31.8% 78 34.6% benign(0.006) tolerated(0.31) neutral(0.027) HMMPfam_Ank,superfamily_ANK XPR1 9213 genome.wustl.edu 37 1 180775262 180775262 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004736.3 +1 validated p.R171H 1.000 119 0% 156 35.9% 9 55.5% probably_damaging(0.953) tolerated(0.52) neutral(0.405) HMMPfam_SPX CACNA1E 777 genome.wustl.edu 37 1 181480509 181480509 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000721.2 +1 reviewed p.E125 1.000 262 0% 359 34.8% 1 0% - - - superfamily_Voltage-gated potassium channels CACNA1E 777 genome.wustl.edu 37 1 181690998 181690998 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000721.2 +1 reviewed p.T687 0.992 259 0% 255 29.8% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CACNA1E 777 genome.wustl.edu 37 1 181702016 181702016 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000721.2 +1 reviewed p.E932K 1.000 43 0% 60 30% 0 - probably_damaging(0.968) deleterious(0.05) deleterious(0.755) NULL CACNA1E 777 genome.wustl.edu 37 1 181724382 181724382 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000721.2 +1 reviewed p.D1280N 1.000 194 0% 253 32% 1 100% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CACNA1E 777 genome.wustl.edu 37 1 181726160 181726160 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000721.2 +1 reviewed p.V1409 1.000 467 0% 541 29.2% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CACNA1E 777 genome.wustl.edu 37 1 181764045 181764045 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000721.2 +1 reviewed p.R1982W 1.000 128 0% 134 27.6% 0 - probably_damaging(0.994) deleterious(0.02) deleterious(0.835) NULL CACNA1E 777 genome.wustl.edu 37 1 181764046 181764046 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000721.2 +1 reviewed p.R1982Q 1.000 130 0% 137 40.9% 0 - possibly_damaging(0.758) tolerated(0.59) neutral(0.285) NULL CACNA1E 777 genome.wustl.edu 37 1 181767563 181767563 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000721.2 +1 reviewed p.A2136T 0.000 96 0% 105 28.6% 1 0% benign(0.002) tolerated(0.43) neutral(0.013) NULL ZNF648 127665 genome.wustl.edu 37 1 182026715 182026715 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001009992.1 -1 provisional p.R144Q 0.003 96 0% 148 43.9% 0 - benign(0.015) deleterious(0.01) neutral(0.406) NULL LOC100130996 100130996 genome.wustl.edu 37 1 182151959 182151959 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_001726581.1 -1 model p.D111Y 1.000 23 0% 32 34.4% 0 - - - - HMMPfam_Yippee RGSL1 353299 genome.wustl.edu 37 1 182522672 182522672 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001137669.1 +1 validated p.Q1042H 0.001 225 0% 309 36.9% 0 - - - - NULL RGS16 6004 genome.wustl.edu 37 1 182569515 182569515 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002928.3 -1 reviewed p.S174L 1.000 90 0% 119 38.7% 4 25% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RGS,HMMSmart_SM00315,superfamily_Regulator of G-protein signaling RGS SHCBP1L 81626 genome.wustl.edu 37 1 182869170 182869170 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030933.2 -1 validated p.N637T 0.988 272 0% 343 34.4% 0 - benign(0.009) tolerated(0.06) neutral(0.323) superfamily_Pectin_lyas_like LAMC2 3918 genome.wustl.edu 37 1 183177131 183177131 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005562.2 +1 reviewed p.C65 0.985 107 0% 157 30.6% 5 100% - - - HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,superfamily_EGF/Laminin LAMC2 3918 genome.wustl.edu 37 1 183194760 183194760 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005562.2 +1 reviewed p.S324I 1.000 125 0% 152 31.6% 11 81.8% possibly_damaging(0.906) deleterious(0.03) deleterious(0.724) HMMPfam_Laminin_B,HMMSmart_SM00281 LAMC2 3918 genome.wustl.edu 37 1 183203501 183203501 + Splice_Site SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005562.2 +1 reviewed e15-1 0.898 266 0% 382 33.2% 0 - - - - - SMG7 9887 genome.wustl.edu 37 1 183514264 183514264 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000515829 +1 known p.E432* 1.000 354 0.3% 435 30.8% 19 42.1% benign(0) tolerated(0.29) neutral(0.029) NULL ARPC5 10092 genome.wustl.edu 37 1 183596680 183596680 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005717.2 -1 reviewed p.R148I 1.000 146 0% 249 35.3% 82 37.8% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_P16-Arc,superfamily_Arp2/3 complex 16 kDa subunit ARPC5 RGL1 23179 genome.wustl.edu 37 1 183861233 183861233 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015149.3 +1 validated p.E395* 1.000 272 0% 200 26% 0 - - - - HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_Ras GEF GLT25D2 23127 genome.wustl.edu 37 1 183933069 183933069 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015101.2 -1 validated p.I306 0.004 212 0% 189 31.2% 0 - - - - NULL GLT25D2 23127 genome.wustl.edu 37 1 183938571 183938571 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015101.2 -1 validated p.R222* 0.749 154 0% 140 23.6% 0 - - - - NULL SWT1 54823 genome.wustl.edu 37 1 185137512 185137512 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001105518.1 +1 validated p.R69I 0.994 179 0% 172 39% 0 - benign(0.418) deleterious(0) deleterious(0.580) NULL HMCN1 83872 genome.wustl.edu 37 1 185891513 185891513 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031935.2 +1 reviewed p.T301 0.964 115 0% 86 29.1% 1 100% - - - NULL HMCN1 83872 genome.wustl.edu 37 1 185902825 185902825 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031935.2 +1 reviewed p.A566V 0.858 185 0.5% 163 34.4% 1 100% benign(0.001) tolerated(0.21) neutral(0.044) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin HMCN1 83872 genome.wustl.edu 37 1 185969257 185969257 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031935.2 +1 reviewed p.D1319Y 1.000 177 0% 118 34.7% 0 - possibly_damaging(0.948) tolerated(0.15) deleterious(0.632) HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin HMCN1 83872 genome.wustl.edu 37 1 185984467 185984467 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031935.2 +1 reviewed p.L1603I 1.000 147 0% 102 33.3% 0 - probably_damaging(0.996) deleterious(0.04) deleterious(0.810) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin HMCN1 83872 genome.wustl.edu 37 1 185985349 185985349 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031935.2 +1 reviewed p.I1723 1.000 119 0% 94 28.7% 1 0% - - - HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin HMCN1 83872 genome.wustl.edu 37 1 186039812 186039812 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031935.2 +1 reviewed p.V2688L 1.000 218 0% 178 26.4% 0 - possibly_damaging(0.663) deleterious(0.04) deleterious(0.583) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin HMCN1 83872 genome.wustl.edu 37 1 186135349 186135349 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031935.2 +1 reviewed p.S5118F 1.000 125 0% 121 36.4% 2 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_CA,superfamily_EGF/Laminin TPR 7175 genome.wustl.edu 37 1 186328956 186328956 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003292.2 -1 reviewed p.S455F 1.000 341 0% 307 37.8% 4 50% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL PTGS2 5743 genome.wustl.edu 37 1 186644428 186644428 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000963.2 -1 reviewed p.R453L 1.000 164 0% 203 27.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_An_peroxidase,superfamily_Heme-dependent peroxidases PLA2G4A 5321 genome.wustl.edu 37 1 186957600 186957600 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024420.2 +1 reviewed p.R737I 0.997 173 0% 191 19.4% 26 30.7% possibly_damaging(0.455) deleterious(0.01) deleterious(0.554) NULL FAM5C 339479 genome.wustl.edu 37 1 190067555 190067555 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_199051.1 -1 provisional p.R632C 1.000 233 0% 288 25.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL FAM5C 339479 genome.wustl.edu 37 1 190067781 190067781 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_199051.1 -1 provisional p.Q556 1.000 125 0% 178 28.1% 0 - - - - NULL RGS13 6003 genome.wustl.edu 37 1 192627357 192627357 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002927.3 +1 reviewed p.L52 1.000 156 0% 134 41% 0 - - - - HMMPfam_RGS,HMMSmart_RGS,superfamily_Regulat_G_prot_signal_superfam RGS13 6003 genome.wustl.edu 37 1 192628484 192628484 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002927.3 +1 reviewed p.S104L 0.659 158 0% 111 35.1% 0 - benign(0) tolerated(0.67) neutral(0.003) HMMPfam_RGS,HMMSmart_RGS,superfamily_Regulat_G_prot_signal_superfam RGS2 5997 genome.wustl.edu 37 1 192779335 192779335 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002923.3 +1 reviewed p.Q50 1.000 147 0% 150 31.3% 14 0% - - - NULL CDC73 79577 genome.wustl.edu 37 1 193104712 193104712 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024529.4 +1 reviewed p.R139Q 1.000 144 0% 159 37.7% 15 60% benign(0.183) deleterious(0.01) neutral(0.423) NULL B3GALT2 8707 genome.wustl.edu 37 1 193150455 193150455 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003783.3 -1 reviewed p.R80W 0.986 283 0.4% 377 34.7% 2 50% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL CDC73 79577 genome.wustl.edu 37 1 193205402 193205402 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024529.4 +1 reviewed p.V445I 1.000 279 0% 446 32.5% 17 17.6% probably_damaging(0.98) deleterious(0) deleterious(0.869) HMMPfam_CDC73 CDC73 79577 genome.wustl.edu 37 1 193218934 193218934 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024529.4 +1 reviewed p.E498* 1.000 186 0% 156 34% 26 11.5% - - - HMMPfam_CDC73 KCNT2 343450 genome.wustl.edu 37 1 196295908 196295908 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198503.2 -1 validated p.L739I 1.000 269 0.4% 131 23.7% 0 - probably_damaging(0.988) deleterious(0.01) deleterious(0.843) NULL CFH 3075 genome.wustl.edu 37 1 196684755 196684755 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000186.3 +1 reviewed p.R518G 0.565 304 0% 188 32.4% 3 0% benign(0.278) tolerated(0.39) neutral(0.046) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CFHR2 3080 genome.wustl.edu 37 1 196918623 196918623 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005666.2 +1 validated p.L33I 0.000 236 0% 190 35.8% 0 - possibly_damaging(0.927) tolerated(0.33) neutral(0.399) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CFHR2 3080 genome.wustl.edu 37 1 196927122 196927122 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005666.2 +1 validated p.C178R 0.985 336 0% 360 31.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CFHR5 81494 genome.wustl.edu 37 1 196967283 196967283 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030787.3 +1 reviewed p.K332N 0.000 81 0% 51 25.5% 0 - benign(0.382) tolerated(0.17) neutral(0.181) HMMSmart_CCP,superfamily_Complement_control_module CFHR5 81494 genome.wustl.edu 37 1 196977752 196977752 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030787.3 +1 reviewed p.S550* 0.000 115 0% 246 33.3% 0 - - - - HMMSmart_CCP,superfamily_Complement_control_module F13B 2165 genome.wustl.edu 37 1 197029665 197029665 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001994.2 -1 reviewed p.K212 0.001 59 0% 31 25.8% 0 - - - - superfamily_Complement_control_module F13B 2165 genome.wustl.edu 37 1 197030087 197030087 + Missense_Mutation SNP C C A rs17514253 byCluster;byFrequency;by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001994.2 -1 reviewed p.K190N 0.000 293 0% 188 30.9% 0 - benign(0) tolerated(0.27) neutral(0.034) HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module F13B 2165 genome.wustl.edu 37 1 197032028 197032028 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001994.2 -1 reviewed p.T75M 0.000 213 0% 122 10.7% 0 - benign(0.257) tolerated(0.11) neutral(0.298) HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module ASPM 259266 genome.wustl.edu 37 1 197059510 197059510 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018136.4 -1 reviewed p.W3215* 1.000 123 0% 77 40.3% 6 33.3% - - - HMMPfam_IQ,HMMSmart_SM00015,superfamily_P-loop containing nucleoside triphosphate hydrolases ASPM 259266 genome.wustl.edu 37 1 197065162 197065162 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018136.4 -1 reviewed p.Q2985K 0.432 280 0.4% 81 32.1% 4 50% benign(0.199) tolerated(0.09) neutral(0.316) superfamily_P-loop containing nucleoside triphosphate hydrolases ASPM 259266 genome.wustl.edu 37 1 197111537 197111537 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018136.4 -1 reviewed p.K615N 0.000 403 0% 460 30% 1 0% possibly_damaging(0.816) deleterious(0.05) deleterious(0.654) NULL ZBTB41 360023 genome.wustl.edu 37 1 197128560 197128560 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_194314.2 -1 validated p.L887I 1.000 240 0% 242 26.4% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ZBTB41 360023 genome.wustl.edu 37 1 197168840 197168840 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_194314.2 -1 validated p.R255M 1.000 102 0% 106 27.4% 1 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ZBTB41 360023 genome.wustl.edu 37 1 197169075 197169075 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_194314.2 -1 validated p.E177K 1.000 136 0% 140 23.6% 1 0% possibly_damaging(0.722) deleterious(0) deleterious(0.707) HMMSmart_SM00225,HMMPfam_BTB CRB1 23418 genome.wustl.edu 37 1 197325986 197325986 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_201253.1 +1 reviewed p.I338 0.012 214 0% 286 31.5% 0 - - - - superfamily_EGF/Laminin CRB1 23418 genome.wustl.edu 37 1 197390438 197390438 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_201253.1 +1 reviewed p.L494M 1.000 207 0% 237 30% 0 - probably_damaging(0.998) tolerated(0.11) deleterious(0.746) superfamily_Concanavalin A-like lectins/glucanases CRB1 23418 genome.wustl.edu 37 1 197390708 197390708 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_201253.1 +1 reviewed p.D584N 0.793 146 0% 152 32.2% 0 - probably_damaging(0.978) tolerated(1) neutral(0.420) HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 CRB1 23418 genome.wustl.edu 37 1 197390950 197390950 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_201253.1 +1 reviewed p.L664F 0.000 103 0% 145 37.2% 0 - - - - superfamily_Concanavalin A-like lectins/glucanases CRB1 23418 genome.wustl.edu 37 1 197404224 197404224 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_201253.1 +1 reviewed p.N1077 0.030 99 0% 50 52% 0 - - - - HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 CRB1 23418 genome.wustl.edu 37 1 197404299 197404299 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_201253.1 +1 reviewed p.I1102 0.053 89 0% 57 33.3% 0 - - - - HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 CRB1 23418 genome.wustl.edu 37 1 197404472 197404472 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_201253.1 +1 reviewed p.S1160F 0.324 147 0% 139 26.6% 0 - probably_damaging(0.956) tolerated(0.08) deleterious(0.700) PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,superfamily_EGF/Laminin NR5A2 2494 genome.wustl.edu 37 1 199997028 199997028 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_205860.1 +1 validated p.L18R 0.001 199 0% 321 37.1% 1 0% unknown(0) - - NULL NR5A2 2494 genome.wustl.edu 37 1 200012948 200012948 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000367357 +1 known p.K4R 0.933 248 0% 398 33.9% 1 0% - - - HMMSmart_SM00399 NR5A2 2494 genome.wustl.edu 37 1 200014653 200014653 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000367357 +1 known p.E56* 1.000 229 0% 260 32.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C4,HMMSmart_SM00399,superfamily_Glucocorticoid receptor-like (DNA-binding domain) NR5A2 2494 genome.wustl.edu 37 1 200017844 200017844 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000367357 +1 known p.T257M 0.549 132 0% 225 36% 0 - - - - superfamily_Nuclear receptor ligand-binding domain FAM58BP 339521 genome.wustl.edu 37 1 200182759 200182759 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001105517.1 +1 provisional p.A23V 0.010 89 0% 119 37% 0 - - - - NULL ZNF281 23528 genome.wustl.edu 37 1 200376450 200376450 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012482.3 -1 provisional p.K795R 1.000 111 0% 128 35.2% 4 50% probably_damaging(0.991) deleterious(0.01) deleterious(0.850) NULL ZNF281 23528 genome.wustl.edu 37 1 200377797 200377797 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012482.3 -1 provisional p.K346T 0.926 171 0% 295 33.2% 2 0% benign(0.003) deleterious(0.02) neutral(0.383) HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 KIF14 9928 genome.wustl.edu 37 1 200583445 200583445 + Splice_Site SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014875.2 -1 validated e3+1 1.000 138 0% 180 36.1% 0 - - - - - CAMSAP2 23271 genome.wustl.edu 37 1 200709079 200709079 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_203459.1 +1 validated p.K42E 1.000 91 1.1% 161 39.1% 2 50% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL C1orf106 55765 genome.wustl.edu 37 1 200860715 200860715 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018265.2 +1 validated p.G16D 0.000 39 0% 82 31.7% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL KIF21B 23046 genome.wustl.edu 37 1 200957632 200957632 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017596.2 -1 provisional p.F1113L 1.000 17 0% 39 30.8% 0 - possibly_damaging(0.738) tolerated(0.32) neutral(0.294) superfamily_WD40_like KIF21B 23046 genome.wustl.edu 37 1 200967660 200967660 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017596.2 -1 provisional p.I643 0.807 91 0% 134 28.4% 0 - - - - superfamily_WD40_like CACNA1S 779 genome.wustl.edu 37 1 201017715 201017715 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000069.2 -1 reviewed p.T1479M 1.000 106 0% 171 36.8% 0 - probably_damaging(1) tolerated(0.26) deleterious(0.534) NULL CACNA1S 779 genome.wustl.edu 37 1 201029842 201029842 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000069.2 -1 reviewed p.F1120V 1.000 258 0% 379 34.3% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) superfamily_SSF81324 CACNA1S 779 genome.wustl.edu 37 1 201031634 201031634 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000069.2 -1 reviewed p.F954L 1.000 195 0% 289 30.8% 0 - benign(0.012) tolerated(0.14) neutral(0.250) HMMPfam_Ion_trans,superfamily_SSF81324 CACNA1S 779 genome.wustl.edu 37 1 201038317 201038317 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000069.2 -1 reviewed p.K833T 0.993 63 0% 104 28.8% 0 - benign(0) tolerated(0.46) neutral(0.012) superfamily_SSF81324 CACNA1S 779 genome.wustl.edu 37 1 201063117 201063117 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000069.2 -1 reviewed p.F97L 1.000 93 0% 120 24.2% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Ion_trans,superfamily_SSF81324 TMEM9 252839 genome.wustl.edu 37 1 201104814 201104814 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016456.3 -1 validated p.D177N 1.000 46 0% 87 35.6% 291 39.5% probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_Tmemb_9 PKP1 5317 genome.wustl.edu 37 1 201263172 201263172 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000299.2 +1 reviewed p.P102L 1.000 141 0% 189 32.3% 3 66.6% benign(0.156) deleterious(0.01) neutral(0.420) NULL PKP1 5317 genome.wustl.edu 37 1 201282534 201282534 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000299.2 +1 reviewed p.R183C 1.000 79 0% 77 36.4% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL TNNI1 7135 genome.wustl.edu 37 1 201379468 201379468 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003281.3 -1 reviewed p.P184 0.009 190 0% 262 36.6% 0 - - - - NULL NAV1 89796 genome.wustl.edu 37 1 201777084 201777084 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020443.4 +1 reviewed p.R1215* 0.997 163 0% 276 27.5% 0 - - - - NULL IPO9 55705 genome.wustl.edu 37 1 201822152 201822152 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018085.4 +1 validated p.R206Q 1.000 294 0% 437 34.1% 20 35% probably_damaging(0.964) deleterious(0.03) deleterious(0.771) superfamily_ARM repeat IPO9 55705 genome.wustl.edu 37 1 201844032 201844032 + Missense_Mutation SNP T T A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018085.4 +1 validated p.L969H 1.000 275 0% 484 31.6% 69 42% benign(0.11) tolerated(0.52) neutral(0.017) superfamily_ARM repeat LMOD1 25802 genome.wustl.edu 37 1 201869822 201869822 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012134.2 -1 reviewed p.D107Y 0.766 143 0% 181 37% 14 0% probably_damaging(0.993) deleterious(0.03) deleterious(0.815) HMMPfam_Tropomodulin TIMM17A 10440 genome.wustl.edu 37 1 201938669 201938669 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006335.2 +1 validated p.R168Q 1.000 181 0% 342 31% 105 38% benign(0.001) tolerated(1) - NULL PTPN7 5778 genome.wustl.edu 37 1 202124717 202124717 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_080588.1 -1 reviewed p.L177I 1.000 79 1.3% 149 36.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Y_phosphatase,HMMSmart_PTPc,superfamily_SSF52799 PTPN7 5778 genome.wustl.edu 37 1 202124738 202124738 + Splice_Site SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_080588.1 -1 reviewed e4-1 1.000 70 0% 124 37.1% 0 - - - - - PPP1R12B 4660 genome.wustl.edu 37 1 202396178 202396178 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000466968 +1 known p.S33* 1.000 370 0% 612 32.5% 1 0% benign(0.034) tolerated(0.21) neutral(0.046) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat KLHL12 59349 genome.wustl.edu 37 1 202866074 202866074 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021633.2 -1 provisional p.L283I 1.000 104 0% 170 33.5% 4 25% possibly_damaging(0.788) tolerated(0.12) deleterious(0.555) HMMPfam_Kelch_1,HMMSmart_Kelch,superfamily_Gal_oxid_central CHIT1 1118 genome.wustl.edu 37 1 203188426 203188426 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003465.2 -1 reviewed p.R316I 0.985 199 0% 215 37.7% 1 0% benign(0.054) tolerated(0.14) neutral(0.253) HMMPfam_Glyco_hydro_18,HMMSmart_SM00636,superfamily_(Trans)glycosidases,superfamily_Chitinase insertion domain FMOD 2331 genome.wustl.edu 37 1 203316638 203316638 + Missense_Mutation SNP T T A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002023.3 -1 reviewed p.N254I 1.000 115 0% 180 34.4% 11 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF52058 OPTC 26254 genome.wustl.edu 37 1 203472713 203472713 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014359.3 +1 reviewed p.F288 1.000 46 0% 80 25% 0 - - - - superfamily_SSF52058 ATP2B4 493 genome.wustl.edu 37 1 203669375 203669375 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001684.3 +1 reviewed p.D231Y 1.000 120 0% 182 19.8% 5 40% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A,superfamily_Calcium ATPase transmembrane domain M ZC3H11A 9877 genome.wustl.edu 37 1 203802967 203802967 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014827.4 +1 validated p.R287Q 1.000 160 0.6% 300 25% 18 33.3% probably_damaging(0.958) deleterious(0.01) deleterious(0.807) NULL SOX13 9580 genome.wustl.edu 37 1 204095221 204095221 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005686.2 +1 reviewed p.E610K 0.524 265 0% 439 31.9% 38 52.6% benign(0.077) deleterious(0.04) neutral(0.354) NULL ETNK2 55224 genome.wustl.edu 37 1 204115879 204115879 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018208.2 -1 reviewed p.E178* 1.000 197 0% 356 32.9% 4 0% - - - HMMPfam_Choline_kinase,superfamily_Kinase_like PLEKHA6 22874 genome.wustl.edu 37 1 204234166 204234166 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014935.2 -1 validated p.E95D 1.000 54 0% 81 30.9% 0 - benign(0.279) deleterious(0.04) neutral(0.379) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 PLEKHA6 22874 genome.wustl.edu 37 1 204237428 204237428 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014935.2 -1 validated p.A39T 0.272 89 0% 113 32.7% 0 - benign(0) deleterious(0.02) neutral(0.383) NULL PPP1R15B 84919 genome.wustl.edu 37 1 204379607 204379607 + Missense_Mutation SNP T T A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032833.3 -1 validated p.Q311H 0.244 121 0% 209 35.9% 7 42.8% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_CReP_N PIK3C2B 5287 genome.wustl.edu 37 1 204397272 204397272 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002646.3 -1 reviewed p.S1492F 1.000 59 0% 154 34.4% 2 50% possibly_damaging(0.76) deleterious(0.04) deleterious(0.630) NULL MDM4 4194 genome.wustl.edu 37 1 204507385 204507385 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002393.3 +1 validated p.D154N 0.001 166 0% 385 37.1% 6 66.6% benign(0.001) tolerated(0.19) neutral(0.050) NULL LRRN2 10446 genome.wustl.edu 37 1 204588804 204588804 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006338.2 -1 reviewed p.S106L 0.233 77 0% 126 34.1% 0 - probably_damaging(0.971) deleterious(0.01) deleterious(0.819) HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00365,superfamily_L domain-like NFASC 23114 genome.wustl.edu 37 1 204913384 204913384 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000367169 +1 known p.R47W 0.262 46 0% 54 31.5% 0 - - - - NULL NFASC 23114 genome.wustl.edu 37 1 204955186 204955186 + Missense_Mutation SNP A A T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015090.3 +1 reviewed p.N908I 1.000 72 0% 105 40% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like RBBP5 5929 genome.wustl.edu 37 1 205068201 205068201 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005057.2 -1 reviewed p.E338* 1.000 400 0% 606 31.4% 3 0% - - - superfamily_WD40 repeat-like DSTYK 25778 genome.wustl.edu 37 1 205138769 205138769 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015375.2 -1 reviewed p.P282 0.002 121 0.8% 182 33.5% 1 0% - - - NULL CDK18 5129 genome.wustl.edu 37 1 205499461 205499461 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_212503.2 +1 validated p.V462 0.998 69 0% 109 32.1% 51 39.2% - - - superfamily_Kinase_like MFSD4 148808 genome.wustl.edu 37 1 205553098 205553098 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_181644.4 +1 validated p.A236T 1.000 91 0% 104 39.4% 0 - possibly_damaging(0.636) deleterious(0.01) deleterious(0.628) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter SLC45A3 85414 genome.wustl.edu 37 1 205628515 205628515 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033102.2 -1 validated p.Q503H 1.000 52 0% 74 28.4% 4 50% benign(0.372) tolerated(0.11) neutral(0.390) NULL PM20D1 148811 genome.wustl.edu 37 1 205797820 205797820 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152491.4 -1 validated p.V479 1.000 278 0% 476 33.4% 1 0% - - - HMMPfam_Peptidase_M20,superfamily_Zn-dependent exopeptidases FAM72A 729533 genome.wustl.edu 37 1 206141509 206141509 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001123168.1 +1 predicted p.I72 0.949 652 0% 1027 10.2% 6 16.6% - - - NULL SRGAP2 23380 genome.wustl.edu 37 1 206566114 206566114 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000295713 +1 known p.E99* 1.000 374 0% 807 11.8% 12 8.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL IKBKE 9641 genome.wustl.edu 37 1 206650051 206650051 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014002.2 +1 validated p.R191* 0.819 95 0% 108 42.6% 3 0% - - - superfamily_Kinase_like,HMMPfam_Pkinase DYRK3 8444 genome.wustl.edu 37 1 206820829 206820829 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003582.2 +1 reviewed p.K96Q 0.240 131 0% 211 36.5% 0 - benign(0.041) tolerated(0.23) neutral(0.044) NULL DYRK3 8444 genome.wustl.edu 37 1 206821511 206821511 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003582.2 +1 reviewed p.L323S 1.000 114 0% 128 27.3% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase FAIM3 9214 genome.wustl.edu 37 1 207078463 207078463 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142472.1 -1 validated p.P358 0.000 221 0% 290 33.8% 1 0% - - - NULL C1orf116 79098 genome.wustl.edu 37 1 207196138 207196138 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_023938.5 -1 validated p.R324H 0.003 158 0% 253 34.8% 0 - probably_damaging(0.99) tolerated(0.09) deleterious(0.738) NULL YOD1 55432 genome.wustl.edu 37 1 207222527 207222527 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018566.3 -1 validated p.V295 0.901 239 0% 374 29.7% 1 100% - - - NULL C4BPB 725 genome.wustl.edu 37 1 207273175 207273175 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000716.3 +1 reviewed p.E220D 0.000 193 0% 236 42.8% 0 - possibly_damaging(0.801) tolerated(0.06) deleterious(0.624) NULL C4BPA 722 genome.wustl.edu 37 1 207300168 207300168 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000715.3 +1 reviewed p.L273I 0.040 199 0% 279 37.3% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain C4BPA 722 genome.wustl.edu 37 1 207305078 207305078 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000715.3 +1 reviewed p.G359 0.001 195 0% 236 32.6% 0 - - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CD55 1604 genome.wustl.edu 37 1 207498083 207498083 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001114752.1 +1 reviewed p.E156K 0.027 100 0% 127 38.6% 24 20.8% possibly_damaging(0.869) deleterious(0.03) deleterious(0.702) HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module CR2 1380 genome.wustl.edu 37 1 207641991 207641991 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001006658.2 +1 reviewed p.L189I 1.000 432 0% 436 29.4% 0 - probably_damaging(0.999) tolerated(0.08) deleterious(0.790) HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module CR2 1380 genome.wustl.edu 37 1 207646473 207646473 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001006658.2 +1 reviewed p.R643C 1.000 82 0% 81 38.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module CR1 1378 genome.wustl.edu 37 1 207751211 207751211 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000651.4 +1 reviewed p.E1533D 0.005 288 0% 509 34.8% 0 - probably_damaging(0.974) tolerated(0.47) neutral(0.427) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CR1 1378 genome.wustl.edu 37 1 207751285 207751285 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000651.4 +1 reviewed p.V1558G 0.333 320 0% 465 29.9% 0 - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain PLXNA2 5362 genome.wustl.edu 37 1 208383795 208383795 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025179.3 -1 reviewed p.D401N 1.000 116 0% 165 36.4% 0 - benign(0.304) tolerated(0.74) neutral(0.096) HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain CAMK1G 57172 genome.wustl.edu 37 1 209782400 209782400 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020439.2 +1 reviewed p.E237D 1.000 189 0% 299 33.1% 0 - benign(0.093) tolerated(0.18) neutral(0.063) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase CAMK1G 57172 genome.wustl.edu 37 1 209786134 209786134 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020439.2 +1 reviewed p.F449L 1.000 182 0% 234 29.5% 0 - benign(0.002) deleterious(0.01) neutral(0.406) NULL LAMB3 3914 genome.wustl.edu 37 1 209788645 209788645 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000228.2 -1 reviewed p.R1164C 0.854 95 0% 122 26.2% 21 23.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TRAF3IP3 80342 genome.wustl.edu 37 1 209950783 209950783 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025228.2 +1 reviewed p.C360 0.043 95 0% 100 40% 7 0% - - - NULL C1orf74 148304 genome.wustl.edu 37 1 209956475 209956475 + Missense_Mutation SNP G G C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152485.2 -1 predicted p.L169V 1.000 80 0% 119 30.3% 4 75% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL DIEXF 27042 genome.wustl.edu 37 1 210008446 210008446 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014388.5 +1 validated p.E197* 1.000 209 0% 237 29.5% 0 - - - - NULL SYT14 255928 genome.wustl.edu 37 1 210194398 210194398 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153262.2 +1 validated p.D81N 1.000 126 0% 165 40.6% 1 0% benign(0) deleterious(0.02) neutral(0.383) NULL SYT14 255928 genome.wustl.edu 37 1 210334183 210334183 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153262.2 +1 validated p.V488 0.617 271 0% 224 38.4% 1 100% - - - HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) HHAT 55733 genome.wustl.edu 37 1 210577856 210577856 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001122834.2 +1 validated p.L173M 0.534 106 0% 109 38.5% 5 60% benign(0.397) tolerated(0.15) neutral(0.368) HMMPfam_MBOAT KCNH1 3756 genome.wustl.edu 37 1 211192437 211192437 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_172362.2 -1 reviewed p.S240 1.000 162 0% 224 24.6% 1 100% - - - superfamily_Voltage-gated potassium channels LPGAT1 9926 genome.wustl.edu 37 1 211923318 211923318 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014873.2 -1 validated p.L346I 0.837 132 0% 195 31.3% 5 80% benign(0.282) tolerated(0.34) neutral(0.109) NULL LPGAT1 9926 genome.wustl.edu 37 1 212002500 212002500 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014873.2 -1 validated p.R47* 0.990 135 0% 244 32.8% 3 33.3% - - - superfamily_Glycerol-3-phosphate (1)-acyltransferase INTS7 25896 genome.wustl.edu 37 1 212115237 212115237 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015434.2 -1 provisional p.R940C 1.000 284 0.4% 411 28% 9 44.4% probably_damaging(0.999) deleterious(0.05) deleterious(0.836) NULL INTS7 25896 genome.wustl.edu 37 1 212141299 212141299 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015434.2 -1 provisional p.R679* 1.000 94 0% 141 38.3% 1 0% - - - NULL DTL 51514 genome.wustl.edu 37 1 212236233 212236233 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016448.2 +1 validated p.F156L 1.000 234 0% 341 35.8% 6 16.6% probably_damaging(1) tolerated(0.15) deleterious(0.741) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 DTL 51514 genome.wustl.edu 37 1 212273915 212273915 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016448.2 +1 validated p.R528I 0.999 143 0% 242 10.7% 9 11.1% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL NSL1 25936 genome.wustl.edu 37 1 212957757 212957757 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015471.3 -1 reviewed p.R131I 1.000 196 0% 313 34.2% 14 42.8% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_Mis14 CENPF 1063 genome.wustl.edu 37 1 214813415 214813415 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016343.3 +1 reviewed p.E578D 0.510 59 0% 56 28.6% 0 - probably_damaging(0.971) tolerated(0.27) neutral(0.447) NULL CENPF 1063 genome.wustl.edu 37 1 214814274 214814274 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016343.3 +1 reviewed p.E865* 1.000 30 0% 45 28.9% 2 50% - - - superfamily_Spectrin repeat CENPF 1063 genome.wustl.edu 37 1 214815093 214815093 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016343.3 +1 reviewed p.E1138K 0.796 146 0% 168 32.1% 1 0% probably_damaging(0.971) tolerated(0.37) neutral(0.432) NULL KCTD3 51133 genome.wustl.edu 37 1 215747166 215747166 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016121.3 +1 validated p.D41Y 1.000 176 0% 146 32.2% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_POZ domain KCTD3 51133 genome.wustl.edu 37 1 215793426 215793426 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016121.3 +1 validated p.T638 1.000 139 0% 133 30.1% 6 50% - - - NULL USH2A 7399 genome.wustl.edu 37 1 215847677 215847677 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_206933.2 -1 reviewed p.R4526* 0.020 169 0% 150 36.7% 0 - - - - superfamily_Fibronectin type III USH2A 7399 genome.wustl.edu 37 1 215853545 215853545 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_206933.2 -1 reviewed p.G4080 0.998 312 0% 264 35.6% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III USH2A 7399 genome.wustl.edu 37 1 215932051 215932051 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_206933.2 -1 reviewed p.A3759T 0.000 390 0% 367 31.6% 0 - benign(0) tolerated(0.62) neutral(0.004) superfamily_Fibronectin type III USH2A 7399 genome.wustl.edu 37 1 216062378 216062378 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_206933.2 -1 reviewed p.P2538H 1.000 114 0% 94 38.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III USH2A 7399 genome.wustl.edu 37 1 216591867 216591867 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_206933.2 -1 reviewed p.L214I 1.000 199 0% 108 26.9% 0 - possibly_damaging(0.766) tolerated(0.27) neutral(0.318) HMMSmart_SM00560,superfamily_Concanavalin A-like lectins/glucanases ESRRG 2104 genome.wustl.edu 37 1 216824346 216824346 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001438.2 -1 validated p.M186I 1.000 255 0% 200 38.5% 0 - benign(0.018) tolerated(0.27) neutral(0.034) HMMPfam_zf-C4,HMMSmart_SM00399,superfamily_Nuclear receptor ligand-binding domain,superfamily_Glucocorticoid receptor-like (DNA-binding domain) ESRRG 2104 genome.wustl.edu 37 1 216850700 216850700 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001438.2 -1 validated p.A64T 1.000 182 0% 246 28.9% 0 - benign(0.024) deleterious(0) neutral(0.446) NULL SPATA17 128153 genome.wustl.edu 37 1 218036162 218036162 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138796.2 +1 provisional p.G351V 1.000 224 0% 173 28.9% 4 50% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL TGFB2 7042 genome.wustl.edu 37 1 218578556 218578556 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001135599.1 +1 validated p.R159Q 0.997 235 0% 312 34.3% 3 0% probably_damaging(0.999) tolerated(0.18) deleterious(0.546) HMMPfam_TGFb_propeptide TGFB2 7042 genome.wustl.edu 37 1 218607517 218607517 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001135599.1 +1 validated p.D230N 1.000 181 0.6% 186 39.2% 3 0% probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMPfam_TGFb_propeptide EPRS 2058 genome.wustl.edu 37 1 220151978 220151978 + Silent SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004446.2 -1 reviewed p.R1331 0.000 181 0% 200 28% 110 46.3% - - - HMMPfam_HGTP_anticodon,superfamily_Anticodon_bd IARS2 55699 genome.wustl.edu 37 1 220313567 220313567 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018060.3 +1 validated p.R784W 1.000 189 0% 230 32.6% 48 41.6% probably_damaging(0.997) deleterious(0) deleterious(0.911) superfamily_Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases,HMMPfam_Anticodon_1 IARS2 55699 genome.wustl.edu 37 1 220318962 220318962 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018060.3 +1 validated p.E955K 0.073 108 0% 153 27.5% 81 40.7% benign(0.026) tolerated(0.48) neutral(0.011) superfamily_Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases RAB3GAP2 25782 genome.wustl.edu 37 1 220375667 220375667 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000484658 -1 known p.E156* 1.000 201 0% 266 31.6% 2 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL MARK1 4139 genome.wustl.edu 37 1 220791812 220791812 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018650.3 +1 validated p.V238G 1.000 212 0% 218 33% 6 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase DUSP10 11221 genome.wustl.edu 37 1 221912393 221912393 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007207.3 -1 reviewed p.E232* 1.000 164 0% 177 38.4% 1 0% - - - HMMPfam_Rhodanese,HMMSmart_SM00450,superfamily_Rhodanese/Cell cycle control phosphatase HHIPL2 79802 genome.wustl.edu 37 1 222716944 222716944 + Missense_Mutation SNP C C A rs142197988 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024746.3 -1 validated p.K303N 1.000 97 0% 154 33.1% 0 - probably_damaging(0.989) tolerated(0.2) deleterious(0.488) superfamily_Quino_gluc_DH MIA3 375056 genome.wustl.edu 37 1 222800982 222800982 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198551.2 +1 validated p.L140 0.952 232 0% 218 25.2% 4 100% - - - NULL MIA3 375056 genome.wustl.edu 37 1 222825333 222825333 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198551.2 +1 validated p.K1308N 1.000 207 0% 194 27.3% 15 60% possibly_damaging(0.946) deleterious(0.04) deleterious(0.739) NULL MIA3 375056 genome.wustl.edu 37 1 222826433 222826433 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198551.2 +1 validated p.D1390E 0.053 254 0% 276 34.8% 28 57.1% probably_damaging(0.953) tolerated(0.17) neutral(0.456) NULL MIA3 375056 genome.wustl.edu 37 1 222833630 222833630 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198551.2 +1 validated p.R1696Q 0.999 129 0% 138 37% 84 50% probably_damaging(0.991) tolerated(0.31) deleterious(0.471) NULL BROX 148362 genome.wustl.edu 37 1 222904778 222904778 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144695.2 +1 validated p.E357K 0.998 165 0% 155 26.5% 16 37.5% benign(0.065) tolerated(0.54) neutral(0.012) HMMPfam_BRO1 FAM177B 400823 genome.wustl.edu 37 1 222919944 222919944 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_207468.2 +1 validated p.K19N 0.003 187 0% 266 36.1% 0 - benign(0.001) tolerated(0.34) neutral(0.023) NULL FAM177B 400823 genome.wustl.edu 37 1 222922886 222922886 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_207468.2 +1 validated p.F107L 0.033 138 0% 143 32.9% 0 - benign(0.001) deleterious(0.02) neutral(0.383) NULL DISP1 84976 genome.wustl.edu 37 1 223176278 223176278 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032890.2 +1 reviewed p.I513 1.000 243 0.4% 280 32.9% 2 50% - - - HMMPfam_Patched,superfamily_SSF82866 DISP1 84976 genome.wustl.edu 37 1 223176954 223176954 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032890.2 +1 reviewed p.N739D 0.998 153 0% 193 30.1% 0 - benign(0.307) tolerated(0.25) neutral(0.133) HMMPfam_Patched DISP1 84976 genome.wustl.edu 37 1 223178170 223178170 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032890.2 +1 reviewed p.P1144L 1.000 153 0% 190 29.5% 4 50% benign(0.068) tolerated(0.22) neutral(0.046) NULL DISP1 84976 genome.wustl.edu 37 1 223178788 223178788 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032890.2 +1 reviewed p.S1350Y 1.000 26 0% 38 28.9% 5 60% benign(0.242) deleterious(0.04) neutral(0.373) NULL SUSD4 55061 genome.wustl.edu 37 1 223396739 223396739 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000271787 -1 known p.A207V 0.012 73 0% 78 28.2% 0 - benign(0.095) deleterious(0) neutral(0.452) NULL SUSD4 55061 genome.wustl.edu 37 1 223408304 223408304 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001037175.2 -1 validated p.S288Y 0.005 223 0% 495 30.7% 0 - unknown(0) - - NULL C1orf65 164127 genome.wustl.edu 37 1 223567309 223567309 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152610.2 +1 validated p.E164D 0.000 33 0% 45 37.8% 0 - probably_damaging(0.959) deleterious(0) deleterious(0.847) NULL CAPN2 824 genome.wustl.edu 37 1 223958206 223958206 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001748.4 +1 reviewed p.R628W 1.000 90 0% 204 35.3% 30 30% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_EF-hand TP53BP2 7159 genome.wustl.edu 37 1 223981018 223981018 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001031685.2 -1 reviewed p.R950I 1.000 53 0% 88 26.1% 22 36.3% benign(0.01) deleterious(0.01) neutral(0.406) superfamily_ANK TP53BP2 7159 genome.wustl.edu 37 1 223998179 223998179 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001031685.2 -1 reviewed p.R109I 1.000 263 0% 297 27.3% 6 66.6% probably_damaging(0.992) deleterious(0) deleterious(0.892) NULL TP53BP2 7159 genome.wustl.edu 37 1 224008970 224008970 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001031685.2 -1 reviewed p.E43* 1.000 177 0% 412 36.7% 8 50% - - - NULL FBXO28 23219 genome.wustl.edu 37 1 224318215 224318215 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015176.2 +1 validated p.N103K 1.000 198 0% 483 36.4% 7 28.5% probably_damaging(0.973) deleterious(0) deleterious(0.859) NULL DEGS1 8560 genome.wustl.edu 37 1 224377616 224377616 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003676.2 +1 reviewed p.V140 0.036 209 0% 482 34% 27 40.7% - - - HMMPfam_FA_desaturase CNIH4 29097 genome.wustl.edu 37 1 224553593 224553593 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014184.2 +1 provisional p.E51* 1.000 334 0.3% 715 36.4% 135 32.5% - - - HMMPfam_Cornichon WDR26 80232 genome.wustl.edu 37 1 224612259 224612259 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025160.6 -1 reviewed p.P95L 1.000 101 0% 141 28.4% 21 57.1% probably_damaging(0.987) tolerated(0.11) deleterious(0.708) NULL DNAH14 127602 genome.wustl.edu 37 1 225267039 225267039 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001373.1 +1 validated p.S852F 0.358 137 0% 116 34.5% 0 - unknown(0) tolerated(0.11) - NULL DNAH14 127602 genome.wustl.edu 37 1 225459628 225459628 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001373.1 +1 validated p.F2558L 0.871 115 0% 180 35% 0 - benign(0.313) tolerated(1) neutral(0.098) superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH14 127602 genome.wustl.edu 37 1 225577523 225577523 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001373.1 +1 validated p.F4324L 0.001 164 0% 286 34.3% 3 0% benign(0) tolerated(0.08) neutral(0.300) HMMPfam_Dynein_heavy LBR 3930 genome.wustl.edu 37 1 225609788 225609788 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002296.2 -1 reviewed p.P119 0.012 86 0% 139 25.2% 5 20% - - - NULL TMEM63A 9725 genome.wustl.edu 37 1 226055697 226055697 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014698.2 -1 validated p.D135 0.704 107 0% 194 40.7% 16 37.5% - - - NULL C1orf55 163859 genome.wustl.edu 37 1 226175925 226175925 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152608.3 -1 validated p.A269V 0.000 222 0% 430 33.7% 11 54.5% possibly_damaging(0.5) tolerated(0.26) neutral(0.201) NULL ACBD3 64746 genome.wustl.edu 37 1 226334352 226334352 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022735.3 -1 reviewed p.R516W 1.000 87 0% 150 42.7% 13 38.4% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Supernatant protein factor (SPF) C-terminal domain LIN9 286826 genome.wustl.edu 37 1 226474059 226474059 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173083.2 -1 provisional p.R183W 1.000 109 0% 103 28.2% 2 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DIRP PARP1 142 genome.wustl.edu 37 1 226567747 226567747 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001618.3 -1 reviewed p.F473L 0.328 156 0% 214 32.7% 75 53.3% benign(0) tolerated(0.75) neutral(0.002) NULL ITPKB 3707 genome.wustl.edu 37 1 226827287 226827287 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002221.3 -1 reviewed p.E842* 1.000 269 0% 379 30.6% 4 0% - - - HMMPfam_IPK,superfamily_SAICAR synthase-like ADCK3 56997 genome.wustl.edu 37 1 227149105 227149105 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020247.4 +1 reviewed p.D7Y 1.000 45 0% 68 33.8% 6 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ADCK3 56997 genome.wustl.edu 37 1 227171907 227171907 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020247.4 +1 reviewed p.E457K 0.912 41 0% 44 25% 19 47.3% benign(0.01) tolerated(0.43) neutral(0.014) superfamily_Protein kinase-like (PK-like) ZNF678 339500 genome.wustl.edu 37 1 227842672 227842672 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178549.3 +1 validated p.E241* 0.826 76 0% 40 42.5% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF678 339500 genome.wustl.edu 37 1 227842889 227842889 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178549.3 +1 validated p.R313K 0.789 57 0% 36 27.8% 1 100% benign(0.032) tolerated(0.18) neutral(0.058) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF678 339500 genome.wustl.edu 37 1 227843477 227843477 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178549.3 +1 validated p.R509I 0.979 86 0% 47 21.3% 0 - benign(0.005) tolerated(0.12) neutral(0.261) superfamily_SSF57667 WNT3A 89780 genome.wustl.edu 37 1 228210590 228210590 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033131.2 +1 reviewed p.F98 0.862 35 0% 39 30.8% 0 - - - - HMMPfam_wnt,HMMSmart_WNT1 GJC2 57165 genome.wustl.edu 37 1 228346345 228346345 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020435.2 +1 reviewed p.D296N 1.000 22 0% 14 28.6% 0 - benign(0.228) deleterious(0.04) neutral(0.371) NULL OBSCN 84033 genome.wustl.edu 37 1 228401191 228401191 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001098623.1 +1 reviewed p.E346D 1.000 59 0% 56 41.1% 1 100% probably_damaging(0.99) - - HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Immunoglobulin OBSCN 84033 genome.wustl.edu 37 1 228403331 228403331 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001098623.1 +1 reviewed p.F632L 1.000 82 0% 112 34.8% 0 - probably_damaging(0.987) - - HMMSmart_SM00409,superfamily_Immunoglobulin OBSCN 84033 genome.wustl.edu 37 1 228404774 228404774 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001098623.1 +1 reviewed p.G813D 0.484 51 0% 34 17.6% 0 - probably_damaging(0.956) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin OBSCN 84033 genome.wustl.edu 37 1 228447203 228447203 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000359599 +1 known p.E132 0.991 55 0% 122 28.7% 0 - - - - superfamily_Immunoglobulin OBSCN 84033 genome.wustl.edu 37 1 228525714 228525714 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001098623.1 +1 reviewed p.R5624W 1.000 60 0% 132 30.3% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL OBSCN 84033 genome.wustl.edu 37 1 228529254 228529254 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000441106 +1 known p.Q608* 1.000 63 0% 51 35.3% 2 0% - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like OBSCN 84033 genome.wustl.edu 37 1 228556470 228556470 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000441106 +1 known p.L1222M 1.000 171 0.6% 209 36.4% 0 - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ABCB10 23456 genome.wustl.edu 37 1 229654610 229654610 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012089.2 -1 reviewed p.L655I 1.000 140 0% 186 31.7% 4 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ABC_tran,HMMSmart_AAA,superfamily_SSF52540 URB2 9816 genome.wustl.edu 37 1 229770844 229770844 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014777.2 +1 provisional p.E162K 0.102 69 0% 72 30.6% 4 75% possibly_damaging(0.921) deleterious(0.04) deleterious(0.720) NULL URB2 9816 genome.wustl.edu 37 1 229772337 229772337 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014777.2 +1 provisional p.I659M 0.000 128 0% 223 37.2% 2 50% benign(0.135) deleterious(0.02) neutral(0.395) NULL GALNT2 2590 genome.wustl.edu 37 1 230338999 230338999 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004481.3 +1 reviewed p.R113* 0.995 112 0% 127 28.3% 14 0% - - - superfamily_Nucleotide-diphospho-sugar transferases GALNT2 2590 genome.wustl.edu 37 1 230415063 230415063 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004481.3 +1 reviewed p.I525 0.996 61 0% 77 39% 37 59.4% - - - HMMPfam_Ricin_B_lectin,HMMSmart_SM00458,superfamily_Ricin B-like lectins PGBD5 79605 genome.wustl.edu 37 1 230468774 230468774 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024554.3 -1 reviewed p.C393 0.943 110 0% 126 34.1% 0 - - - - NULL AGT 183 genome.wustl.edu 37 1 230846432 230846432 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000029.3 -1 reviewed p.A55 0.331 187 0% 307 26.1% 0 - - - - superfamily_Serpins TTC13 79573 genome.wustl.edu 37 1 231069592 231069592 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024525.4 -1 validated p.F306V 1.000 119 0% 158 31.6% 7 57.1% probably_damaging(0.99) tolerated(0.18) deleterious(0.497) HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like TTC13 79573 genome.wustl.edu 37 1 231097014 231097014 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024525.4 -1 validated p.E103K 1.000 140 0% 309 34% 0 - benign(0.136) tolerated(0.32) neutral(0.036) NULL ARV1 64801 genome.wustl.edu 37 1 231131553 231131553 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022786.1 +1 provisional p.R166W 0.013 174 0% 203 34.5% 11 27.2% probably_damaging(0.977) deleterious(0.02) deleterious(0.802) HMMPfam_Arv1 LOC644006 644006 genome.wustl.edu 37 1 231157846 231157846 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_929433.4 +1 model p.R164C 1.000 116 0% 197 33% 0 - - - - HMMSmart_SM00184,HMMPfam_zf-C3HC4,superfamily_RING/U-box TRIM67 440730 genome.wustl.edu 37 1 231349633 231349633 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004342.3 +1 validated p.F732L 1.000 55 0% 96 34.4% 0 - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_SPRY,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00449 C1orf131 128061 genome.wustl.edu 37 1 231360158 231360158 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152379.2 -1 validated p.K250R 0.995 157 0% 207 37.2% 11 36.3% possibly_damaging(0.718) tolerated(0.64) neutral(0.263) NULL C1orf131 128061 genome.wustl.edu 37 1 231364895 231364895 + Splice_Site SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152379.2 -1 validated e3+1 1.000 57 0% 77 24.7% 0 - - - - - DISC1 27185 genome.wustl.edu 37 1 231829852 231829852 + Silent SNP G G A rs189101828 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018662.2 +1 reviewed p.A116 0.000 51 0% 72 30.6% 3 33.3% - - - NULL DISC1 27185 genome.wustl.edu 37 1 231885676 231885676 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018662.2 +1 reviewed p.E374D 0.893 137 0% 201 30.8% 0 - probably_damaging(0.975) deleterious(0) deleterious(0.861) NULL SIPA1L2 57568 genome.wustl.edu 37 1 232538167 232538167 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020808.3 -1 validated p.L1665I 1.000 385 0% 467 30% 35 48.5% probably_damaging(0.978) deleterious(0.02) deleterious(0.803) NULL SIPA1L2 57568 genome.wustl.edu 37 1 232579369 232579369 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020808.3 -1 validated p.R1139I 1.000 164 0% 219 30.6% 10 30% possibly_damaging(0.849) deleterious(0.01) deleterious(0.732) NULL KIAA1383 54627 genome.wustl.edu 37 1 232943524 232943524 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019090.2 +1 validated p.K919Q 0.277 71 0% 99 46.5% 4 25% possibly_damaging(0.837) tolerated(0.19) neutral(0.369) NULL PCNXL2 80003 genome.wustl.edu 37 1 233121840 233121840 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014801.3 -1 provisional p.R2080W 0.995 23 0% 24 25% 10 60% probably_damaging(0.992) deleterious(0) deleterious(0.892) NULL PCNXL2 80003 genome.wustl.edu 37 1 233296178 233296178 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014801.3 -1 provisional p.P1123Q 0.994 102 0% 142 30.3% 8 37.5% possibly_damaging(0.943) deleterious(0.01) deleterious(0.793) NULL KIAA1804 84451 genome.wustl.edu 37 1 233490680 233490680 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032435.2 +1 validated p.E412* 1.000 124 0% 176 29% 1 100% - - - superfamily_Protein kinase-like (PK-like) KIAA1804 84451 genome.wustl.edu 37 1 233498022 233498022 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032435.2 +1 validated p.R512Q 0.993 56 0% 146 42.5% 1 100% probably_damaging(0.97) tolerated(0.29) neutral(0.442) NULL KIAA1804 84451 genome.wustl.edu 37 1 233518198 233518198 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032435.2 +1 validated p.R951I 0.366 113 0% 126 42.1% 2 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL KIAA1804 84451 genome.wustl.edu 37 1 233518445 233518445 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032435.2 +1 validated p.E1033D 0.991 69 0% 81 34.6% 1 0% benign(0.008) tolerated(0.38) neutral(0.018) NULL TARBP1 6894 genome.wustl.edu 37 1 234529164 234529164 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005646.3 -1 reviewed p.D1502N 1.000 133 0% 196 30.1% 25 20% possibly_damaging(0.708) tolerated(0.08) deleterious(0.555) HMMPfam_SpoU_methylase,superfamily_SSF75217 TARBP1 6894 genome.wustl.edu 37 1 234529508 234529508 + Missense_Mutation SNP C C T rs190205796 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005646.3 -1 reviewed p.R1440H 0.000 70 0% 122 34.4% 22 59% benign(0) tolerated(0.12) neutral(0.261) NULL TARBP1 6894 genome.wustl.edu 37 1 234569285 234569285 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005646.3 -1 reviewed p.L755 0.126 208 0% 279 30.5% 3 33.3% - - - NULL LYST 1130 genome.wustl.edu 37 1 235892950 235892950 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000081.2 -1 reviewed p.R3018* 1.000 144 0% 156 37.8% 0 - - - - superfamily_PH domain-like LYST 1130 genome.wustl.edu 37 1 235909822 235909822 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000081.2 -1 reviewed p.R2596* 0.998 148 0% 107 30.8% 3 0% - - - NULL LYST 1130 genome.wustl.edu 37 1 235918821 235918821 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000081.2 -1 reviewed p.F2396V 1.000 178 0% 186 31.2% 2 50% probably_damaging(0.99) - - NULL LYST 1130 genome.wustl.edu 37 1 235922751 235922751 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000081.2 -1 reviewed p.N2134 0.000 200 0% 251 24.7% 0 - - - - NULL LYST 1130 genome.wustl.edu 37 1 235966256 235966256 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000081.2 -1 reviewed p.E1222K 1.000 187 0% 225 28.9% 0 - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL LYST 1130 genome.wustl.edu 37 1 235969939 235969939 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000081.2 -1 reviewed p.D833Y 0.977 179 0% 219 26.5% 0 - probably_damaging(0.955) deleterious(0.04) deleterious(0.748) NULL NID1 4811 genome.wustl.edu 37 1 236205290 236205290 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002508.2 -1 reviewed p.S352Y 0.430 84 0% 119 34.5% 12 0% possibly_damaging(0.719) tolerated(0.06) deleterious(0.583) NULL GPR137B 7107 genome.wustl.edu 37 1 236347187 236347187 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000454895 +1 known p.E180* 1.000 304 0% 385 32.7% 26 34.6% probably_damaging(0.987) deleterious(0.01) deleterious(0.842) NULL LGALS8 3964 genome.wustl.edu 37 1 236706120 236706120 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000366583 +1 known p.G194 0.000 353 0% 491 32.4% 2 0% - - - NULL HEATR1 55127 genome.wustl.edu 37 1 236717027 236717027 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018072.4 -1 validated p.L2031F 1.000 167 0% 242 29.8% 19 36.8% possibly_damaging(0.598) deleterious(0.02) deleterious(0.590) superfamily_ARM-type_fold HEATR1 55127 genome.wustl.edu 37 1 236727937 236727937 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018072.4 -1 validated p.F1487C 0.001 240 0% 269 35.3% 3 33.3% possibly_damaging(0.883) tolerated(0.18) neutral(0.401) superfamily_ARM-type_fold HEATR1 55127 genome.wustl.edu 37 1 236740123 236740123 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018072.4 -1 validated p.S961Y 0.739 85 0% 124 25.8% 1 100% benign(0.063) deleterious(0.04) neutral(0.353) superfamily_ARM-type_fold ACTN2 88 genome.wustl.edu 37 1 236900491 236900491 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001103.2 +1 reviewed p.E285* 1.000 145 0% 267 32.2% 0 - - - - HMMPfam_Spectrin,superfamily_Spectrin repeat RYR2 6262 genome.wustl.edu 37 1 237617858 237617858 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001035.2 +1 reviewed p.N487T 1.000 116 0% 137 40.1% 0 - benign(0.15) - - HMMPfam_RYDR_ITPR RYR2 6262 genome.wustl.edu 37 1 237821259 237821259 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001035.2 +1 reviewed p.E2715D 1.000 132 0% 122 35.2% 0 - benign(0.001) - - HMMPfam_RyR RYR2 6262 genome.wustl.edu 37 1 237831247 237831247 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001035.2 +1 reviewed p.L2860S 1.000 82 0% 76 27.6% 1 0% probably_damaging(1) - - HMMPfam_RyR RYR2 6262 genome.wustl.edu 37 1 237850791 237850791 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001035.2 +1 reviewed p.R3018 1.000 238 0% 257 27.6% 0 - - - - NULL RYR2 6262 genome.wustl.edu 37 1 237872222 237872222 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001035.2 +1 reviewed p.L3322F 0.013 158 0% 136 27.2% 0 - possibly_damaging(0.948) - - NULL RYR2 6262 genome.wustl.edu 37 1 237886508 237886508 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001035.2 +1 reviewed p.E3545D 1.000 279 0% 409 33.7% 0 - probably_damaging(0.974) - - NULL RYR2 6262 genome.wustl.edu 37 1 237948060 237948060 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001035.2 +1 reviewed p.E4350* 0.999 83 0% 81 23.5% 0 - - - - HMMPfam_RR_TM4-6 CHRM3 1131 genome.wustl.edu 37 1 240072033 240072033 + Missense_Mutation SNP C C A rs143690744 TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000740.2 +1 reviewed p.P428T 1.000 81 0% 132 35.6% 0 - benign(0.003) tolerated(0.18) neutral(0.056) HMMPfam_7tm_1,superfamily_SSF81321 FMN2 56776 genome.wustl.edu 37 1 240256805 240256805 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020066.4 +1 validated p.A466T 0.027 27 0% 46 28.3% 0 - unknown(0) deleterious(0.01) - NULL FMN2 56776 genome.wustl.edu 37 1 240492391 240492391 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020066.4 +1 validated p.E1411K 1.000 108 0% 142 30.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_FH2,HMMPfam_FH2,superfamily_FH2_actin_bd RGS7 6000 genome.wustl.edu 37 1 240990408 240990408 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002924.4 -1 validated p.K225T 1.000 259 0% 323 31% 0 - possibly_damaging(0.659) deleterious(0.05) deleterious(0.578) NULL RGS7 6000 genome.wustl.edu 37 1 241146388 241146388 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002924.4 -1 validated p.E73* 1.000 122 0% 112 33% 0 - - - - HMMPfam_DEP,HMMSmart_DEP,superfamily_SSF46785 KMO 8564 genome.wustl.edu 37 1 241695752 241695752 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003679.3 +1 validated p.S3* 0.990 460 0% 411 33.8% 0 - - - - superfamily_FAD/NAD(P)-binding domain CHML 1122 genome.wustl.edu 37 1 241797786 241797786 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001821.3 -1 reviewed p.R428I 1.000 136 0% 110 26.4% 4 25% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GDI,superfamily_FAD/NAD(P)-binding domain CHML 1122 genome.wustl.edu 37 1 241798294 241798294 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001821.3 -1 reviewed p.F259L 1.000 100 0% 82 35.4% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GDI,superfamily_FAD/NAD(P)-binding domain WDR64 128025 genome.wustl.edu 37 1 241834464 241834464 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000366552 +1 known p.R122Q 0.954 236 0% 289 28.7% 0 - probably_damaging(0.997) tolerated(0.27) deleterious(0.500) superfamily_WD40 repeat-like WDR64 128025 genome.wustl.edu 37 1 241850845 241850845 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144625.4 +1 validated p.D18Y 1.000 176 0% 214 31.3% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL WDR64 128025 genome.wustl.edu 37 1 241920703 241920703 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144625.4 +1 validated p.A340V 0.000 249 0% 251 31.1% 0 - possibly_damaging(0.837) tolerated(0.12) deleterious(0.580) superfamily_WD40 repeat-like EXO1 9156 genome.wustl.edu 37 1 242042071 242042071 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006027.4 +1 reviewed p.S512Y 0.001 149 0% 195 29.2% 8 37.5% benign(0.273) tolerated(0.37) neutral(0.048) NULL LOC440742 440742 genome.wustl.edu 37 1 244228068 244228068 + RNA SNP C C T rs180700151 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XR_040547.1 +1 model NULL 0.000 117 0% 169 29.6% 0 - - - - - C1orf100 200159 genome.wustl.edu 37 1 244541860 244541860 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001012970.1 +1 predicted p.R82* 0.015 118 0% 155 38.7% 0 - - - - NULL HNRNPU-AS1 284702 genome.wustl.edu 37 1 245006328 245006328 + RNA SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NR_026778.1 -1 predicted NULL 0.011 69 0% 56 33.9% 0 - - - - - HNRNPU-AS1 284702 genome.wustl.edu 37 1 245006330 245006330 + RNA SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NR_026778.1 -1 predicted NULL 0.006 71 0% 58 31% 2 0% - - - - KIF26B 55083 genome.wustl.edu 37 1 245849127 245849127 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018012.3 +1 provisional p.E948K 0.993 13 0% 19 26.3% 1 100% probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL KIF26B 55083 genome.wustl.edu 37 1 245849259 245849259 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018012.3 +1 provisional p.E992* 0.991 37 0% 46 26.1% 1 0% - - - NULL SMYD3 64754 genome.wustl.edu 37 1 246027124 246027124 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022743.2 -1 validated p.I234S 0.999 454 0.2% 437 37.5% 18 5.5% possibly_damaging(0.911) deleterious(0) deleterious(0.807) NULL SMYD3 64754 genome.wustl.edu 37 1 246091308 246091308 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022743.2 -1 validated p.D150 1.000 94 0% 136 35.3% 16 68.7% - - - HMMPfam_SET,HMMSmart_SET,superfamily_SSF82199 CNST 163882 genome.wustl.edu 37 1 246797780 246797780 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152609.2 +1 validated p.K237Q 1.000 109 0% 235 37% 2 0% probably_damaging(0.998) tolerated(0.12) deleterious(0.735) NULL CNST 163882 genome.wustl.edu 37 1 246823621 246823621 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152609.2 +1 validated p.D653N 0.947 107 0% 269 30.5% 3 66.6% probably_damaging(0.994) tolerated(0.13) deleterious(0.705) NULL SCCPDH 51097 genome.wustl.edu 37 1 246921595 246921595 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016002.2 +1 validated p.R211I 0.737 188 0% 258 35.3% 27 44.4% possibly_damaging(0.515) deleterious(0.01) deleterious(0.579) HMMPfam_Saccharop_dh AHCTF1 25909 genome.wustl.edu 37 1 247040366 247040366 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015446.4 -1 validated p.F941L 1.000 201 0% 199 39.7% 3 0% probably_damaging(0.998) tolerated(0.18) deleterious(0.530) NULL ZNF695 57116 genome.wustl.edu 37 1 247150450 247150450 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020394.3 -1 validated p.R456I 0.654 127 0% 218 27.1% 1 0% probably_damaging(0.997) tolerated(0.24) deleterious(0.504) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF695 57116 genome.wustl.edu 37 1 247150618 247150618 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020394.3 -1 validated p.R400K 0.964 131 0% 167 29.3% 2 50% benign(0.063) tolerated(0.42) neutral(0.018) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF670 93474 genome.wustl.edu 37 1 247200863 247200863 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033213.2 -1 validated p.R353Q 0.001 142 0% 181 29.3% 6 50% possibly_damaging(0.457) tolerated(0.95) neutral(0.150) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF670 93474 genome.wustl.edu 37 1 247201271 247201271 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033213.2 -1 validated p.R217I 0.990 128 0% 232 36.6% 6 50% possibly_damaging(0.445) tolerated(0.09) neutral(0.442) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF124 7678 genome.wustl.edu 37 1 247322323 247322323 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003431.2 -1 provisional p.S68Y 0.286 285 0% 362 31.8% 2 50% benign(0.001) deleterious(0.05) neutral(0.345) superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF496 84838 genome.wustl.edu 37 1 247464244 247464244 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032752.1 -1 provisional p.S447 0.998 61 0% 48 25% 30 53.3% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF496 84838 genome.wustl.edu 37 1 247464516 247464516 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032752.1 -1 provisional p.L357I 0.082 52 0% 60 38.3% 21 66.6% probably_damaging(0.99) tolerated(0.29) deleterious(0.471) NULL ZNF496 84838 genome.wustl.edu 37 1 247492554 247492554 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032752.1 -1 provisional p.S109 0.694 42 0% 30 36.7% 15 60% - - - HMMPfam_SCAN,HMMSmart_SCAN NLRP3 114548 genome.wustl.edu 37 1 247588824 247588824 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001079821.2 +1 reviewed p.E693D 0.235 182 0% 327 33% 0 - benign(0.202) tolerated(0.51) neutral(0.028) NULL OR2B11 127623 genome.wustl.edu 37 1 247614861 247614861 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004492.1 -1 provisional p.R142C 0.100 63 0% 88 40.9% 0 - probably_damaging(0.988) deleterious(0.01) deleterious(0.843) HMMPfam_7tm_1,superfamily_SSF81321 OR2B11 127623 genome.wustl.edu 37 1 247615090 247615090 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004492.1 -1 provisional p.I65 0.002 176 0% 333 34.5% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR2C3 81472 genome.wustl.edu 37 1 247695508 247695508 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198074.4 -1 validated p.F102L 0.970 162 0% 242 36.4% 0 - possibly_damaging(0.631) tolerated(1) neutral(0.221) HMMPfam_7tm_1,superfamily_SSF81321 OR2G2 81470 genome.wustl.edu 37 1 247752533 247752533 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001001915.1 +1 provisional p.L291R 0.141 94 0% 84 21.4% 0 - probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_7tm_1,superfamily_SSF81321 OR14A16 284532 genome.wustl.edu 37 1 247978955 247978955 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001001966.1 -1 provisional p.S26L 0.000 126 0% 166 30.1% 0 - benign(0.125) deleterious(0) neutral(0.455) superfamily_SSF81321 OR2T8 343172 genome.wustl.edu 37 1 248084670 248084670 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005522.1 +1 validated p.A117 0.991 111 0% 150 15.3% 0 - - - - HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 OR2L8 391190 genome.wustl.edu 37 1 248112403 248112403 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001001963.1 +1 provisional p.S82A 0.000 378 0% 521 33.4% 0 - benign(0.003) tolerated(0.77) neutral(0.001) HMMPfam_7tm_1,superfamily_SSF81321 OR2L8 391190 genome.wustl.edu 37 1 248112953 248112953 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001001963.1 +1 provisional p.R265Q 0.001 175 0% 201 30.3% 0 - benign(0.253) deleterious(0.04) neutral(0.375) HMMPfam_7tm_1,superfamily_SSF81321 OR2AK2 391191 genome.wustl.edu 37 1 248129423 248129423 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004491.1 +1 provisional p.S264G 0.000 234 0% 304 37.5% 0 - probably_damaging(0.988) tolerated(0.76) neutral(0.439) HMMPfam_7tm_1,superfamily_SSF81321 OR2L5 81466 genome.wustl.edu 37 1 248185450 248185450 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000355281 +1 known p.L67 0.000 231 0% 351 32.8% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR2L5 81466 genome.wustl.edu 37 1 248186043 248186043 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000355281 +1 known p.R265Q 0.000 149 0% 160 31.2% 0 - benign(0.253) tolerated(0.05) neutral(0.371) HMMPfam_7tm_1,superfamily_SSF81321 OR2L2 26246 genome.wustl.edu 37 1 248201637 248201637 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004686.2 +1 provisional p.G23D 0.016 306 0% 354 29.9% 0 - benign(0.09) tolerated(1) neutral(0.006) superfamily_SSF81321 OR2L2 26246 genome.wustl.edu 37 1 248201998 248201998 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004686.2 +1 provisional p.M143I 0.535 218 0% 294 27.9% 0 - benign(0.077) tolerated(0.24) neutral(0.043) HMMPfam_7tm_1,superfamily_SSF81321 OR2M2 391194 genome.wustl.edu 37 1 248343565 248343565 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004688.1 +1 provisional p.S93Y 0.011 451 0% 546 31.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_7tm_1,superfamily_SSF81321 OR2M2 391194 genome.wustl.edu 37 1 248343588 248343588 + Missense_Mutation SNP A A T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004688.1 +1 provisional p.I101F 0.002 415 0% 432 26.6% 0 - probably_damaging(0.976) deleterious(0.05) deleterious(0.763) HMMPfam_7tm_1,superfamily_SSF81321 OR2M4 26245 genome.wustl.edu 37 1 248402830 248402830 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017504.1 +1 provisional p.V200 0.001 182 0.5% 241 28.2% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR2T4 127074 genome.wustl.edu 37 1 248525202 248525202 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004696.1 +1 provisional p.S107F 0.079 511 0% 673 49.5% 0 - benign(0.199) deleterious(0.01) neutral(0.425) HMMPfam_7tm_1,superfamily_SSF81321 OR2T6 254879 genome.wustl.edu 37 1 248551149 248551149 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005471.1 +1 provisional p.K80N 0.697 509 0% 572 34.1% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_7tm_1,superfamily_SSF81321 OR2T2 401992 genome.wustl.edu 37 1 248616908 248616908 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004136.1 +1 provisional p.E270D 0.003 469 0% 617 15.7% 0 - probably_damaging(0.975) tolerated(0.41) neutral(0.432) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR2T3 343173 genome.wustl.edu 37 1 248636766 248636766 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005495.1 +1 provisional p.L39I 0.001 522 0% 532 16% 0 - benign(0) tolerated(1) - superfamily_SSF81321 OR2T10 127069 genome.wustl.edu 37 1 248756254 248756254 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004693.1 -1 provisional p.M272I 0.000 69 0% 95 73.7% 0 - benign(0.089) deleterious(0) neutral(0.451) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR2T11 127077 genome.wustl.edu 37 1 248789496 248789496 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001001964.1 -1 provisional p.A312S 0.001 46 0% 83 45.8% 0 - benign(0) tolerated(1) - NULL OR2T11 127077 genome.wustl.edu 37 1 248789743 248789743 + Missense_Mutation SNP T T A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001001964.1 -1 provisional p.E229D 0.013 35 0% 76 64.5% 0 - benign(0.077) deleterious(0.02) neutral(0.389) HMMPfam_7tm_1,superfamily_SSF81321 OR2T27 403239 genome.wustl.edu 37 1 248813850 248813850 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001001824.1 -1 provisional p.F112L 0.000 49 0% 84 20.2% 0 - probably_damaging(0.998) tolerated(0.64) deleterious(0.477) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 PGBD2 267002 genome.wustl.edu 37 1 249210925 249210925 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_170725.2 +1 validated p.D48N 0.002 68 0% 118 24.6% 4 25% benign(0.01) deleterious(0.02) neutral(0.384) NULL PGBD2 267002 genome.wustl.edu 37 1 249210940 249210940 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_170725.2 +1 validated p.E53* 0.999 73 0% 115 35.7% 4 50% - - - NULL PGBD2 267002 genome.wustl.edu 37 1 249211080 249211080 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_170725.2 +1 validated p.K99 0.018 77 0% 114 32.5% 4 50% - - - NULL PGBD2 267002 genome.wustl.edu 37 1 249211486 249211486 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_170725.2 +1 validated p.E235* 0.012 80 0% 157 36.9% 8 25% - - - NULL ACP1 52 genome.wustl.edu 37 2 277002 277002 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004300.3 +1 reviewed p.Q106* 1.000 118 0% 133 39.1% 76 17.1% - - - HMMPfam_LMWPc,HMMSmart_SM00226,superfamily_Phosphotyrosine protein phosphatases I ACP1 52 genome.wustl.edu 37 2 277495 277495 + RNA SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NR_024080.1 +1 reviewed NULL 0.000 9 0.000 16 0.375 57 17.5% - - - - TPO 7173 genome.wustl.edu 37 2 1457568 1457568 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000547.5 +1 reviewed p.F195L 0.008 38 0% 53 26.4% 0 - benign(0.183) tolerated(0.66) neutral(0.019) HMMPfam_An_peroxidase,superfamily_Heme-dependent peroxidases PXDN 7837 genome.wustl.edu 37 2 1651955 1651955 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012293.1 -1 validated p.E1199D 1.000 63 0% 83 36.1% 12 0% benign(0.04) tolerated(0.2) neutral(0.052) HMMPfam_An_peroxidase,superfamily_Heme-dependent peroxidases TSSC1 7260 genome.wustl.edu 37 2 3197793 3197793 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003310.2 -1 validated p.K266N 1.000 117 0% 138 32.6% 57 50.8% possibly_damaging(0.467) tolerated(0.31) neutral(0.180) HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 TSSC1 7260 genome.wustl.edu 37 2 3341890 3341890 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003310.2 -1 validated p.N53D 1.000 160 0% 223 28.3% 15 20% probably_damaging(0.996) tolerated(0.12) deleterious(0.722) superfamily_WD40_like ALLC 55821 genome.wustl.edu 37 2 3729223 3729223 + Splice_Site SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018436.3 +1 validated e5-1 0.885 128 0% 121 29.8% 0 - - - - - ALLC 55821 genome.wustl.edu 37 2 3729225 3729225 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018436.3 +1 validated p.D100 0.025 130 0% 123 37.4% 0 - - - - superfamily_Gal_bind_like,HMMPfam_Allantoicase ALLC 55821 genome.wustl.edu 37 2 3750004 3750004 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018436.3 +1 validated p.D343Y 0.989 43 0% 63 28.6% 0 - possibly_damaging(0.718) deleterious(0.02) deleterious(0.643) superfamily_Gal_bind_like,HMMPfam_Allantoicase CMPK2 129607 genome.wustl.edu 37 2 6991587 6991587 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_207315.2 -1 validated p.R407H 1.000 225 0% 276 36.2% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Thymidylate_kin,superfamily_P-loop containing nucleoside triphosphate hydrolases RSAD2 91543 genome.wustl.edu 37 2 7027222 7027222 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_080657.4 +1 validated p.S222Y 0.997 144 0% 161 37.3% 0 - possibly_damaging(0.923) deleterious(0) deleterious(0.817) HMMSmart_Elp3,superfamily_SSF102114 KIDINS220 57498 genome.wustl.edu 37 2 8871889 8871889 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020738.2 -1 validated p.S1426F 1.000 237 0% 262 33.2% 13 46.1% possibly_damaging(0.848) deleterious(0) deleterious(0.770) NULL ASAP2 8853 genome.wustl.edu 37 2 9514947 9514947 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003887.2 +1 reviewed p.H540 0.015 53 0% 176 35.2% 7 28.5% - - - HMMPfam_ArfGap,HMMSmart_SM00105,superfamily_Pyk2-associated protein beta ARF-GAP domain ADAM17 6868 genome.wustl.edu 37 2 9630613 9630613 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003183.4 -1 reviewed p.S723L 0.989 138 0.7% 245 33.5% 19 42.1% probably_damaging(0.967) deleterious(0.02) deleterious(0.792) NULL TAF1B 9014 genome.wustl.edu 37 2 10053329 10053329 + Nonsense_Mutation SNP A A T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005680.2 +1 reviewed p.K408* 1.000 234 0% 331 33.5% 3 33.3% - - - NULL GRHL1 29841 genome.wustl.edu 37 2 10098938 10098938 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000324907 +1 known p.S77 0.059 164 0% 426 31% 2 0% - - - NULL GRHL1 29841 genome.wustl.edu 37 2 10136458 10136458 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198182.2 +1 reviewed p.R347* 1.000 268 0.4% 469 34.1% 7 14.2% - - - NULL ATP6V1C2 245973 genome.wustl.edu 37 2 10912689 10912689 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001039362.1 +1 reviewed p.Q197H 1.000 200 0% 400 32.5% 1 100% benign(0.023) tolerated(0.55) neutral(0.008) HMMPfam_V-ATPase_C KCNF1 3754 genome.wustl.edu 37 2 11053816 11053816 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002236.4 +1 reviewed p.A422T 0.999 94 0% 149 32.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ROCK2 9475 genome.wustl.edu 37 2 11335145 11335145 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004850.3 -1 reviewed p.R1152K 1.000 255 0% 264 30.7% 6 66.6% possibly_damaging(0.73) tolerated(1) neutral(0.267) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like E2F6 1876 genome.wustl.edu 37 2 11591852 11591852 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198256.2 -1 reviewed p.E154G 1.000 126 0% 188 31.9% 2 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL GREB1 9687 genome.wustl.edu 37 2 11696805 11696805 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014668.3 +1 reviewed p.I22S 1.000 93 0% 122 39.3% 2 50% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL TRIB2 28951 genome.wustl.edu 37 2 12863535 12863535 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021643.3 +1 reviewed p.F140 0.842 128 0% 144 36.8% 15 6.6% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) TRIB2 28951 genome.wustl.edu 37 2 12880833 12880833 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021643.3 +1 reviewed p.S315 0.735 137 0% 151 33.1% 18 16.6% - - - superfamily_Protein kinase-like (PK-like) TRIB2 28951 genome.wustl.edu 37 2 12880996 12880996 + RNA SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NR_027303.1 +1 reviewed NULL 0.000 57 0% 73 27.4% 22 27.2% - - - - NBAS 51594 genome.wustl.edu 37 2 15492156 15492156 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015909.2 -1 validated p.N1380T 0.000 342 0% 474 29.3% 12 50% benign(0.004) tolerated(0.21) neutral(0.044) NULL DDX1 1653 genome.wustl.edu 37 2 15760365 15760365 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004939.1 +1 reviewed p.D414N 1.000 286 0.3% 396 29.3% 58 46.5% benign(0.099) tolerated(0.08) neutral(0.307) HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases FAM49A 81553 genome.wustl.edu 37 2 16734221 16734221 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030797.3 -1 validated p.R319 1.000 350 0% 342 38.6% 3 0% - - - HMMPfam_DUF1394 RAD51AP2 729475 genome.wustl.edu 37 2 17699118 17699118 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001099218.2 -1 provisional p.E189* 0.002 82 0% 83 31.3% 0 - - - - NULL SMC6 79677 genome.wustl.edu 37 2 17902527 17902527 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142286.1 -1 validated p.R243Q 1.000 140 0% 164 34.8% 2 0% benign(0.139) tolerated(0.13) neutral(0.265) HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases GEN1 348654 genome.wustl.edu 37 2 17963100 17963100 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001130009.1 +1 validated p.S874Y 0.005 84 0% 89 27% 0 - possibly_damaging(0.598) deleterious(0) deleterious(0.651) NULL MSGN1 343930 genome.wustl.edu 37 2 17998314 17998314 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001105569.1 +1 provisional p.E177K 0.994 34 0% 44 36.4% 0 - probably_damaging(0.996) tolerated(0.25) deleterious(0.498) HMMPfam_HLH,HMMSmart_HLH,superfamily_HLH_basic NT5C1B 93034 genome.wustl.edu 37 2 18745341 18745341 + Nonsense_Mutation SNP C C A rs147103410 TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000418427 -1 known p.E173* 1.000 130 0% 163 31.9% 0 - possibly_damaging(0.564) deleterious(0.04) deleterious(0.541) HMMPfam_5-nucleotidase SDC1 6382 genome.wustl.edu 37 2 20402893 20402893 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001006946.1 -1 reviewed p.T240A 0.995 44 2.3% 36 27.8% 19 26.3% benign(0.022) deleterious(0.03) neutral(0.365) HMMPfam_Syndecan PUM2 23369 genome.wustl.edu 37 2 20453624 20453624 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015317.1 -1 provisional p.D1008N 1.000 202 0% 269 19.3% 25 0% probably_damaging(0.992) deleterious(0.01) deleterious(0.853) HMMPfam_PUF,HMMSmart_SM00025,superfamily_ARM repeat PUM2 23369 genome.wustl.edu 37 2 20483243 20483243 + Nonsense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015317.1 -1 provisional p.Y432* 1.000 130 0% 110 32.7% 3 0% - - - NULL C2orf43 60526 genome.wustl.edu 37 2 20939834 20939834 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021925.2 -1 predicted p.P200 0.000 189 0% 166 31.3% 10 50% - - - HMMPfam_DUF2305,superfamily_SSF53474 APOB 338 genome.wustl.edu 37 2 21225459 21225459 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000384.2 -1 reviewed p.E4279* 0.000 234 0% 166 30.7% 0 - - - - NULL APOB 338 genome.wustl.edu 37 2 21228464 21228464 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000384.2 -1 reviewed p.P3759Q 1.000 83 0% 91 33% 0 - probably_damaging(0.978) - - NULL APOB 338 genome.wustl.edu 37 2 21228510 21228510 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000384.2 -1 reviewed p.L3744I 0.002 82 0% 84 33.3% 0 - possibly_damaging(0.736) - - NULL APOB 338 genome.wustl.edu 37 2 21228796 21228796 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000384.2 -1 reviewed p.V3648 0.006 157 0% 126 27.8% 0 - - - - NULL APOB 338 genome.wustl.edu 37 2 21228819 21228819 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000384.2 -1 reviewed p.S3641A 0.000 152 0% 123 35.8% 0 - benign(0.117) - - NULL APOB 338 genome.wustl.edu 37 2 21228915 21228915 + Missense_Mutation SNP A A T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000384.2 -1 reviewed p.S3609T 0.006 131 0% 75 37.3% 0 - benign(0.429) - - NULL APOB 338 genome.wustl.edu 37 2 21231890 21231890 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000384.2 -1 reviewed p.F2617C 1.000 77 0% 59 22% 0 - probably_damaging(0.999) - - NULL APOB 338 genome.wustl.edu 37 2 21234324 21234324 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000384.2 -1 reviewed p.L1806M 0.001 168 0% 191 35.1% 0 - possibly_damaging(0.619) - - NULL APOB 338 genome.wustl.edu 37 2 21234850 21234850 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000384.2 -1 reviewed p.I1630 0.000 130 0% 127 33.1% 0 - - - - NULL APOB 338 genome.wustl.edu 37 2 21234944 21234944 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000384.2 -1 reviewed p.R1599H 0.879 128 0% 131 35.9% 0 - probably_damaging(0.998) - - NULL APOB 338 genome.wustl.edu 37 2 21235490 21235490 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000384.2 -1 reviewed p.T1417M 0.000 134 0% 136 25% 0 - probably_damaging(1) - - NULL APOB 338 genome.wustl.edu 37 2 21239397 21239397 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000384.2 -1 reviewed p.E1082 0.005 193 0% 249 29.7% 0 - - - - NULL APOB 338 genome.wustl.edu 37 2 21242683 21242683 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000384.2 -1 reviewed p.P971T 0.000 175 0% 270 35.6% 0 - benign(0) - - HMMPfam_DUF1081,superfamily_Lipovitellin-phosvitin complex beta-sheet shell regions APOB 338 genome.wustl.edu 37 2 21251370 21251370 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000384.2 -1 reviewed p.S553Y 0.968 111 0% 157 36.9% 0 - probably_damaging(0.99) - - HMMPfam_Vitellogenin_N,HMMSmart_SM00638,superfamily_Lipovitellin-phosvitin complex superhelical domain KLHL29 114818 genome.wustl.edu 37 2 23918622 23918622 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000486442 +1 known p.R558C 1.000 50 0% 37 35.1% 4 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_Galactose oxidase central domain ATAD2B 54454 genome.wustl.edu 37 2 23974955 23974955 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017552.1 -1 validated p.E1446D 1.000 102 0% 88 29.5% 10 20% possibly_damaging(0.792) tolerated(0.55) neutral(0.304) NULL ATAD2B 54454 genome.wustl.edu 37 2 23977132 23977132 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017552.1 -1 validated p.D1418Y 1.000 97 0% 60 41.7% 2 0% probably_damaging(0.999) tolerated(0.9) deleterious(0.490) NULL ATAD2B 54454 genome.wustl.edu 37 2 23980404 23980404 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000381024 -1 known p.R597* 0.114 216 0% 205 30.7% 3 33.3% benign(0.003) tolerated(0.73) neutral(0.002) NULL ATAD2B 54454 genome.wustl.edu 37 2 24005807 24005807 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017552.1 -1 validated p.D1022A 1.000 196 0% 155 25.8% 0 - benign(0.421) tolerated(0.31) neutral(0.164) HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain,PatternScan_BROMODOMAIN_1 ATAD2B 54454 genome.wustl.edu 37 2 24011417 24011417 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017552.1 -1 validated p.Q914R 1.000 426 0% 391 25.1% 3 0% benign(0.049) tolerated(0.15) neutral(0.244) superfamily_P-loop containing nucleoside triphosphate hydrolases ATAD2B 54454 genome.wustl.edu 37 2 24090788 24090788 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017552.1 -1 validated p.D369N 1.000 124 0% 165 35.2% 2 50% probably_damaging(0.986) deleterious(0.01) deleterious(0.840) NULL ATAD2B 54454 genome.wustl.edu 37 2 24107680 24107680 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017552.1 -1 validated p.G247R 1.000 335 0% 563 29.3% 2 50% probably_damaging(0.976) tolerated(0.06) deleterious(0.740) NULL C2orf44 80304 genome.wustl.edu 37 2 24260731 24260731 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025203.2 -1 validated p.R545I 0.000 132 0% 281 34.9% 1 100% benign(0.189) tolerated(0.18) neutral(0.074) NULL SF3B14 51639 genome.wustl.edu 37 2 24297061 24297061 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016047.3 -1 reviewed p.R12* 1.000 195 0% 281 32.4% 138 23.9% - - - NULL C2orf84 653140 genome.wustl.edu 37 2 24362260 24362260 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000454150 +1 known p.H127Q 0.998 278 0% 429 35.4% 0 - probably_damaging(0.999) tolerated(0.36) deleterious(0.510) NULL C2orf84 653140 genome.wustl.edu 37 2 24406173 24406173 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001040710.1 +1 predicted p.V61A 0.000 313 0% 474 32.5% 0 - benign(0.067) tolerated(0.49) neutral(0.015) NULL NCOA1 8648 genome.wustl.edu 37 2 24929760 24929760 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003743.4 +1 reviewed p.S474Y 1.000 58 0% 89 36% 3 66.6% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL NCOA1 8648 genome.wustl.edu 37 2 24951256 24951256 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003743.4 +1 reviewed p.L933I 1.000 128 0% 198 39.9% 4 25% probably_damaging(0.971) tolerated(0.06) deleterious(0.736) superfamily_Nuclear receptor coactivator interlocking domain,HMMPfam_Nuc_rec_co-act CENPO 79172 genome.wustl.edu 37 2 25022560 25022560 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024322.1 +1 provisional p.L21F 1.000 86 0% 127 37.8% 11 63.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL EFR3B 22979 genome.wustl.edu 37 2 25344630 25344630 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014971.1 +1 validated p.H151R 1.000 114 0% 106 37.7% 2 50% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) superfamily_ARM repeat EFR3B 22979 genome.wustl.edu 37 2 25376604 25376604 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000264719 +1 known p.Q610K 1.000 60 0% 86 32.6% 3 0% - - - NULL DNMT3A 1788 genome.wustl.edu 37 2 25470468 25470468 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022552.3 -1 reviewed p.F336V 1.000 219 0% 370 27% 5 20% possibly_damaging(0.939) tolerated(0.1) deleterious(0.671) HMMPfam_PWWP,HMMSmart_SM00293,superfamily_Tudor/PWWP/MBT DTNB 1838 genome.wustl.edu 37 2 25754459 25754459 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021907.3 -1 reviewed p.P295H 1.000 107 0% 231 32.9% 22 54.5% possibly_damaging(0.657) tolerated(0.1) deleterious(0.518) NULL ASXL2 55252 genome.wustl.edu 37 2 25965778 25965778 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018263.4 -1 validated p.S1143Y 0.838 107 0.9% 170 32.4% 4 75% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL KIF3C 3797 genome.wustl.edu 37 2 26204553 26204553 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002254.6 -1 validated p.V78 1.000 15 0% 39 33.3% 2 0% - - - HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases HADHA 3030 genome.wustl.edu 37 2 26437984 26437984 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000182.4 -1 reviewed p.T246N 0.405 331 0% 480 34% 65 36.9% benign(0) tolerated(0.42) neutral(0.014) superfamily_ClpP/crotonase HADHB 3032 genome.wustl.edu 37 2 26477150 26477150 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000183.2 +1 reviewed p.N10H 0.933 130 0% 206 35.4% 8 50% probably_damaging(0.992) - - NULL GPR113 165082 genome.wustl.edu 37 2 26536634 26536634 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145168.1 -1 validated p.I424V 0.954 80 0% 128 34.4% 0 - possibly_damaging(0.619) tolerated(0.67) neutral(0.218) NULL GPR113 165082 genome.wustl.edu 37 2 26539828 26539828 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145168.1 -1 validated p.A152T 0.001 135 0% 217 32.3% 0 - possibly_damaging(0.46) tolerated(0.38) neutral(0.168) NULL GPR113 165082 genome.wustl.edu 37 2 26541849 26541849 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145168.1 -1 validated p.A23 0.001 164 0% 269 31.6% 0 - - - - NULL CCDC164 92749 genome.wustl.edu 37 2 26647287 26647287 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145038.2 +1 validated p.E169K 0.997 61 0% 113 36.3% 0 - probably_damaging(0.991) tolerated(0.22) deleterious(0.486) NULL CCDC164 92749 genome.wustl.edu 37 2 26654771 26654771 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145038.2 +1 validated p.R262H 1.000 116 0% 279 38.4% 0 - possibly_damaging(0.497) tolerated(0.09) neutral(0.463) NULL OTOF 9381 genome.wustl.edu 37 2 26685042 26685042 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_194248.2 -1 reviewed p.L1734M 1.000 71 0% 126 31.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) OTOF 9381 genome.wustl.edu 37 2 26707452 26707452 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_194248.2 -1 reviewed p.I365 1.000 151 0% 173 30.1% 0 - - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_FerI OTOF 9381 genome.wustl.edu 37 2 26726677 26726677 + Silent SNP G G C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_194248.2 -1 reviewed p.G182 1.000 91 0% 137 33.6% 0 - - - - NULL CIB4 130106 genome.wustl.edu 37 2 26805695 26805695 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001029881.1 -1 provisional p.M175I 1.000 126 0% 193 33.7% 0 - benign(0.023) tolerated(0.34) neutral(0.024) superfamily_SSF47473 KCNK3 3777 genome.wustl.edu 37 2 26950590 26950590 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002246.2 +1 reviewed p.Y113 1.000 47 0% 56 33.9% 0 - - - - HMMPfam_Ion_trans_2,superfamily_Voltage-gated potassium channels TMEM214 54867 genome.wustl.edu 37 2 27261983 27261983 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000434544 +1 known p.R59C 0.852 66 0% 72 29.2% 122 43.4% - - - HMMPfam_DUF2359 AGBL5 60509 genome.wustl.edu 37 2 27277663 27277663 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021831.5 +1 validated p.F239 0.996 105 0% 210 37.6% 30 46.6% - - - superfamily_Zn-dependent exopeptidases EMILIN1 11117 genome.wustl.edu 37 2 27302012 27302012 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007046.3 +1 reviewed p.R27* 0.996 7 0.000 7 0.571 31 0% - - - NULL ABHD1 84696 genome.wustl.edu 37 2 27351353 27351353 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032604.3 +1 reviewed p.E53 0.928 192 0% 242 40.1% 0 - - - - NULL SNX17 9784 genome.wustl.edu 37 2 27599559 27599559 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014748.2 +1 reviewed p.F462 0.995 141 0% 226 36.7% 220 35.9% - - - NULL PPM1G 5496 genome.wustl.edu 37 2 27607603 27607603 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_177983.1 -1 reviewed p.S254 1.000 69 0% 165 36.4% 86 8.1% - - - HMMSmart_SM00332,superfamily_Protein serine/threonine phosphatase 2C catalytic domain,HMMPfam_PP2C PPM1G 5496 genome.wustl.edu 37 2 27608638 27608638 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_177983.1 -1 reviewed p.E129* 1.000 344 0% 770 32.7% 81 7.4% - - - HMMSmart_SM00332,superfamily_Protein serine/threonine phosphatase 2C catalytic domain,HMMPfam_PP2C KRTCAP3 200634 genome.wustl.edu 37 2 27666897 27666897 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173853.3 +1 validated p.R233W 0.006 121 0% 315 34.3% 6 0% possibly_damaging(0.938) deleterious(0.01) deleterious(0.789) NULL IFT172 26160 genome.wustl.edu 37 2 27676959 27676959 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015662.1 -1 validated p.E1201K 0.999 35 0% 70 37.1% 10 30% possibly_damaging(0.783) deleterious(0.02) deleterious(0.676) superfamily_HCP-like GCKR 2646 genome.wustl.edu 37 2 27724039 27724039 + Missense_Mutation SNP A A T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001486.3 +1 reviewed p.N196I 0.984 132 0% 151 28.5% 0 - benign(0.012) deleterious(0.02) neutral(0.384) superfamily_SIS domain C2orf16 84226 genome.wustl.edu 37 2 27800201 27800201 + Silent SNP G G A rs143452806 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032266.3 +1 validated p.K254 0.000 61 0% 100 26% 2 50% - - - NULL C2orf16 84226 genome.wustl.edu 37 2 27800430 27800430 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032266.3 +1 validated p.E331* 0.012 159 0.6% 243 31.7% 0 - - - - NULL C2orf16 84226 genome.wustl.edu 37 2 27802248 27802248 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032266.3 +1 validated p.E937* 0.245 138 0% 155 39.4% 0 - - - - NULL ZNF512 84450 genome.wustl.edu 37 2 27824298 27824298 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032434.2 +1 validated p.H220N 1.000 403 0% 696 30.2% 6 16.6% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2 CCDC121 79635 genome.wustl.edu 37 2 27850729 27850729 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142683.2 -1 validated p.F142V 0.000 115 0% 223 31.4% 1 0% benign(0.124) - - NULL GPN1 11321 genome.wustl.edu 37 2 27873021 27873021 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007266.3 +1 reviewed p.F374C 1.000 147 0% 228 18.9% 57 26.3% probably_damaging(0.984) deleterious(0) deleterious(0.875) NULL SUPT7L 9913 genome.wustl.edu 37 2 27878277 27878277 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014860.1 -1 provisional p.R313C 1.000 116 0% 173 33.5% 46 54.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL SUPT7L 9913 genome.wustl.edu 37 2 27884041 27884041 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014860.1 -1 provisional p.R77C 1.000 185 0% 455 32.7% 28 10.7% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SUPT7L 9913 genome.wustl.edu 37 2 27884214 27884214 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014860.1 -1 provisional p.R19I 1.000 135 0% 243 29.6% 18 11.1% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL SLC4A1AP 22950 genome.wustl.edu 37 2 27891721 27891721 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018158.2 +1 validated p.E386* 1.000 185 0.5% 297 33.3% 8 0% - - - HMMPfam_dsrm,HMMSmart_DSRM FOSL2 2355 genome.wustl.edu 37 2 28635229 28635229 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005253.3 +1 reviewed p.S299A 1.000 37 0% 62 43.5% 78 34.6% benign(0.417) tolerated(0.15) neutral(0.376) NULL PPP1CB 5500 genome.wustl.edu 37 2 29022064 29022064 + Splice_Site SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002709.2 +1 reviewed e8-1 1.000 63 0% 80 28.7% 0 - - - - - PPP1CB 5500 genome.wustl.edu 37 2 29022072 29022072 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002709.2 +1 reviewed p.K296T 1.000 75 0% 89 34.8% 60 76.6% benign(0.004) deleterious(0) neutral(0.445) HMMSmart_SM00156,superfamily_Metallo-dependent phosphatases FAM179A 165186 genome.wustl.edu 37 2 29222282 29222282 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_199280.2 +1 validated p.K125N 1.000 36 0% 60 30% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL FAM179A 165186 genome.wustl.edu 37 2 29234368 29234368 + Splice_Site SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_199280.2 +1 validated e6+1 1.000 218 0% 365 10.4% 0 - - - - - FAM179A 165186 genome.wustl.edu 37 2 29256344 29256344 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_199280.2 +1 validated p.D714Y 0.999 212 0% 381 36% 0 - probably_damaging(1) tolerated(0.31) deleterious(0.527) superfamily_ARM repeat FAM179A 165186 genome.wustl.edu 37 2 29259448 29259448 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_199280.2 +1 validated p.K820N 1.000 169 0% 292 37.3% 2 0% probably_damaging(0.995) tolerated(0.06) deleterious(0.780) superfamily_ARM repeat ALK 238 genome.wustl.edu 37 2 29430052 29430052 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004304.3 -1 reviewed p.S1308Y 0.998 103 0% 110 35.5% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) ALK 238 genome.wustl.edu 37 2 29432705 29432705 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004304.3 -1 reviewed p.G1261 0.220 156 0% 198 35.9% 0 - - - - HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) ALK 238 genome.wustl.edu 37 2 29543705 29543705 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004304.3 -1 reviewed p.F486L 1.000 246 0% 349 32.4% 0 - benign(0.001) deleterious(0.02) neutral(0.383) HMMPfam_MAM LBH 81606 genome.wustl.edu 37 2 30480454 30480454 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030915.3 +1 validated p.C95 1.000 41 0% 97 33% 31 25.8% - - - NULL XDH 7498 genome.wustl.edu 37 2 31571206 31571206 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000379.3 -1 reviewed p.Y1025 1.000 118 0% 140 30.7% 0 - - - - HMMPfam_Ald_Xan_dh_C2,superfamily_Ald_xan_DH_mo_bd XDH 7498 genome.wustl.edu 37 2 31624109 31624109 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000379.3 -1 reviewed p.K95E 1.000 78 1.3% 123 30.1% 0 - benign(0.027) tolerated(0.08) neutral(0.301) HMMPfam_Fer2_2,superfamily_2Fe-2S_bind NLRC4 58484 genome.wustl.edu 37 2 32475629 32475629 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000360906 -1 known p.F435S 0.992 81 0% 150 32.7% 0 - benign(0.17) deleterious(0) neutral(0.460) NULL NLRC4 58484 genome.wustl.edu 37 2 32476368 32476368 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000360906 -1 known p.G189R 0.118 90 1.1% 117 29.1% 1 0% possibly_damaging(0.951) tolerated(0.09) deleterious(0.691) HMMPfam_NACHT,superfamily_P-loop containing nucleoside triphosphate hydrolases BIRC6 57448 genome.wustl.edu 37 2 32656134 32656134 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016252.3 +1 reviewed p.R1075Q 0.982 52 0% 94 27.7% 2 0% probably_damaging(0.987) deleterious(0.01) deleterious(0.842) NULL BIRC6 57448 genome.wustl.edu 37 2 32667430 32667430 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016252.3 +1 reviewed p.R1382Q 1.000 222 0% 401 33.7% 0 - benign(0.068) tolerated(0.62) neutral(0.009) NULL BIRC6 57448 genome.wustl.edu 37 2 32692602 32692602 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016252.3 +1 reviewed p.R1789I 1.000 253 0% 458 33.8% 2 50% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL BIRC6 57448 genome.wustl.edu 37 2 32704676 32704676 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016252.3 +1 reviewed p.D2467Y 1.000 123 0% 153 28.1% 4 75% possibly_damaging(0.805) deleterious(0.03) deleterious(0.667) NULL BIRC6 57448 genome.wustl.edu 37 2 32740826 32740826 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016252.3 +1 reviewed p.L3780 1.000 29 0% 42 23.8% 6 66.6% - - - NULL LTBP1 4052 genome.wustl.edu 37 2 33468851 33468851 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_206943.2 +1 reviewed p.P667S 0.969 198 0% 222 29.3% 18 27.7% benign(0.122) tolerated(0.56) neutral(0.017) superfamily_EGF/Laminin RASGRP3 25780 genome.wustl.edu 37 2 33741704 33741704 + Missense_Mutation SNP C C A rs74600205 byCluster;by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001139488.1 +1 validated p.L56I 1.000 278 0% 356 36.8% 0 - possibly_damaging(0.867) tolerated(0.43) neutral(0.350) HMMPfam_RasGEF_N,HMMSmart_SM00229,superfamily_Ras GEF RASGRP3 25780 genome.wustl.edu 37 2 33745024 33745024 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001139488.1 +1 validated p.R60Q 0.998 415 0% 548 32.8% 0 - benign(0.196) tolerated(1) neutral(0.018) HMMPfam_RasGEF_N,HMMSmart_SM00229,superfamily_Ras GEF RASGRP3 25780 genome.wustl.edu 37 2 33745704 33745704 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001139488.1 +1 validated p.S107 0.989 299 0% 426 24.9% 0 - - - - HMMSmart_SM00229,superfamily_Ras GEF ENSG00000181250 0 genome.wustl.edu 37 2 33952635 33952635 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000322472 -1 known p.A70T 0.996 47 0% 64 28.1% 0 - - - - HMMPfam_MARVEL STRN 6801 genome.wustl.edu 37 2 37082373 37082373 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003162.2 -1 validated p.E654* 1.000 265 0% 391 32% 4 0% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like HEATR5B 54497 genome.wustl.edu 37 2 37208731 37208731 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019024.1 -1 validated p.R2040* 0.951 97 0% 146 34.9% 24 45.8% - - - NULL HEATR5B 54497 genome.wustl.edu 37 2 37229678 37229678 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019024.1 -1 validated p.L1696 0.538 104 0% 190 35.8% 7 14.2% - - - superfamily_ARM repeat HEATR5B 54497 genome.wustl.edu 37 2 37286117 37286117 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019024.1 -1 validated p.F621 1.000 117 0% 148 30.4% 2 100% - - - superfamily_ARM repeat HEATR5B 54497 genome.wustl.edu 37 2 37289162 37289162 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019024.1 -1 validated p.R539Q 1.000 174 0% 202 33.2% 4 25% probably_damaging(0.998) tolerated(0.1) deleterious(0.761) superfamily_ARM repeat EIF2AK2 5610 genome.wustl.edu 37 2 37368810 37368810 + Missense_Mutation SNP G G T rs184007282 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001135651.1 -1 validated p.S92Y 0.010 126 0% 164 22% 6 0% possibly_damaging(0.904) deleterious(0.01) deleterious(0.764) superfamily_dsRNA-binding domain-like C2orf56 55471 genome.wustl.edu 37 2 37468922 37468922 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144736.4 +1 validated p.D204N 0.998 77 0% 122 37.7% 11 36.3% possibly_damaging(0.944) deleterious(0.01) deleterious(0.794) HMMPfam_DUF185 PRKD3 23683 genome.wustl.edu 37 2 37501633 37501633 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005813.3 -1 reviewed p.R528C 1.000 159 0% 153 34.6% 11 27.2% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like FAM82A1 151393 genome.wustl.edu 37 2 38156691 38156691 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000354545 +1 known p.E91* 1.000 110 0% 119 32.8% 2 50% - - - NULL FAM82A1 151393 genome.wustl.edu 37 2 38156796 38156796 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000354545 +1 known p.A126T 0.970 51 0% 102 30.4% 1 100% benign(0) tolerated(0.42) neutral(0.014) NULL FAM82A1 151393 genome.wustl.edu 37 2 38179162 38179162 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144713.3 +1 validated p.H268 0.000 120 0% 71 36.6% 0 - - - - NULL FAM82A1 151393 genome.wustl.edu 37 2 38244389 38244389 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000404848 +1 known p.R174Q 0.992 74 0% 107 38.3% 2 0% - - - NULL HNRPLL 92906 genome.wustl.edu 37 2 38796354 38796354 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138394.3 -1 validated p.K446T 1.000 175 0% 200 34.5% 66 48.4% probably_damaging(0.993) deleterious(0) deleterious(0.895) superfamily_RNA-binding domain RBD SRSF7 6432 genome.wustl.edu 37 2 38977271 38977271 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001031684.2 -1 validated p.S32R 1.000 113 0% 277 35.7% 77 51.9% benign(0.005) tolerated(0.67) neutral(0.003) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD GEMIN6 79833 genome.wustl.edu 37 2 39008851 39008851 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024775.9 +1 validated p.K107N 0.995 72 0% 205 32.2% 35 51.4% probably_damaging(0.975) tolerated(0.09) deleterious(0.714) HMMPfam_Gemin6 SOS1 6654 genome.wustl.edu 37 2 39251269 39251269 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005633.3 -1 reviewed p.E362* 1.000 354 0% 311 33.1% 3 0% - - - HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) CDKL4 344387 genome.wustl.edu 37 2 39456518 39456518 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001009565.1 -1 provisional p.I52M 0.960 237 0% 271 29.5% 0 - possibly_damaging(0.94) deleterious(0) deleterious(0.830) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase SLC8A1 6546 genome.wustl.edu 37 2 40366782 40366782 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000359719 -1 known p.E175* 1.000 92 0% 145 34.5% 1 0% benign(0.228) tolerated(0.08) neutral(0.323) NULL SLC8A1 6546 genome.wustl.edu 37 2 40656333 40656333 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021097.2 -1 validated p.F363C 1.000 225 0% 190 23.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SLC8A1 6546 genome.wustl.edu 37 2 40657396 40657396 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021097.2 -1 validated p.L9I 0.024 92 0% 69 33.3% 0 - benign(0.047) tolerated(0.1) neutral(0.289) NULL EML4 27436 genome.wustl.edu 37 2 42556902 42556902 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019063.3 +1 validated p.S834N 1.000 147 0% 221 31.7% 18 44.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 KCNG3 170850 genome.wustl.edu 37 2 42671358 42671358 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_133329.4 -1 reviewed p.L343F 1.000 74 0% 142 26.8% 2 50% probably_damaging(0.999) tolerated(1) deleterious(0.490) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels THADA 63892 genome.wustl.edu 37 2 43514105 43514105 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001083953.1 -1 validated p.V1702 0.773 101 0% 174 35.1% 43 44.1% - - - NULL THADA 63892 genome.wustl.edu 37 2 43571370 43571370 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001083953.1 -1 validated p.H1412N 1.000 115 0% 140 40.7% 17 29.4% probably_damaging(0.983) deleterious(0.02) deleterious(0.812) NULL THADA 63892 genome.wustl.edu 37 2 43776431 43776431 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001083953.1 -1 validated p.K1008N 0.546 228 0% 324 33.6% 7 57.1% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) HMMPfam_DUF2428 THADA 63892 genome.wustl.edu 37 2 43819152 43819152 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001083953.1 -1 validated p.S37Y 1.000 126 0% 191 33% 4 75% probably_damaging(0.982) deleterious(0.01) deleterious(0.832) NULL PLEKHH2 130271 genome.wustl.edu 37 2 43927267 43927267 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_172069.3 +1 validated p.F390 1.000 85 0% 140 37.9% 1 0% - - - NULL PLEKHH2 130271 genome.wustl.edu 37 2 43980767 43980767 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_172069.3 +1 validated p.F1221L 1.000 83 0% 82 26.8% 1 100% possibly_damaging(0.888) tolerated(0.09) deleterious(0.644) superfamily_Second domain of FERM,HMMSmart_SM00295 LRPPRC 10128 genome.wustl.edu 37 2 44175658 44175658 + Splice_Site SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_133259.3 -1 reviewed e17-1 1.000 97 0% 130 34.6% 1 100% - - - - LRPPRC 10128 genome.wustl.edu 37 2 44209440 44209440 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_133259.3 -1 reviewed p.R95* 0.992 111 0.9% 125 32% 2 50% - - - NULL LRPPRC 10128 genome.wustl.edu 37 2 44209567 44209567 + Silent SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_133259.3 -1 reviewed p.L52 0.000 51 0% 67 23.9% 2 100% - - - NULL SLC3A1 6519 genome.wustl.edu 37 2 44531345 44531345 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000341.3 +1 reviewed p.P400 0.424 247 0.8% 393 38.2% 0 - - - - HMMPfam_Alpha-amylase,HMMSmart_Aamy,superfamily_Glyco_hydro_cat PREPL 9581 genome.wustl.edu 37 2 44553980 44553980 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006036.4 -1 reviewed p.I539M 0.753 64 0% 66 22.7% 11 36.3% possibly_damaging(0.93) tolerated(0.14) deleterious(0.626) HMMPfam_Peptidase_S9,superfamily_alpha/beta-Hydrolases SIX2 10736 genome.wustl.edu 37 2 45233380 45233380 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016932.4 -1 reviewed p.Q269* 1.000 187 0% 199 34.7% 19 63.1% - - - NULL EPAS1 2034 genome.wustl.edu 37 2 46583928 46583928 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001430.4 +1 reviewed p.E145D 1.000 185 0% 287 35.2% 13 23% probably_damaging(0.998) tolerated(0.14) deleterious(0.724) HMMSmart_PAS,superfamily_SSF55785 EPAS1 2034 genome.wustl.edu 37 2 46605046 46605046 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001430.4 +1 reviewed p.F421 0.731 54 0% 75 26.7% 26 15.3% - - - NULL CALM2 805 genome.wustl.edu 37 2 47388940 47388940 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001743.4 -1 validated p.E115K 1.000 323 0% 628 33% 435 36.3% benign(0.266) deleterious(0) deleterious(0.473) superfamily_EF-hand MSH2 4436 genome.wustl.edu 37 2 47698180 47698180 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000251.1 +1 reviewed p.E580* 1.000 88 0% 137 35% 18 0% - - - HMMPfam_MutS_III,HMMSmart_MUTSd,superfamily_DNA_repair_MutS_domIII MSH6 2956 genome.wustl.edu 37 2 48027043 48027043 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000179.2 +1 reviewed p.E641* 1.000 56 0% 75 32% 9 0% - - - HMMPfam_MutS_II MSH6 2956 genome.wustl.edu 37 2 48030686 48030686 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000179.2 +1 reviewed p.T1100 0.559 205 0% 356 62.6% 26 73% - - - HMMPfam_MutS_V,HMMSmart_SM00533,superfamily_P-loop containing nucleoside triphosphate hydrolases PPP1R21 129285 genome.wustl.edu 37 2 48688353 48688353 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001135629.1 +1 validated p.V226L 1.000 137 0% 145 28.3% 9 44.4% benign(0.003) tolerated(0.15) neutral(0.241) NULL STON1-GTF2A1L 286749 genome.wustl.edu 37 2 48808043 48808043 + Missense_Mutation SNP T T A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_172311.1 +1 reviewed p.F91I 0.001 223 0% 360 30.3% 0 - benign(0) deleterious(0.04) neutral(0.349) NULL STON1-GTF2A1L 286749 genome.wustl.edu 37 2 48808721 48808721 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_172311.1 +1 reviewed p.K317Q 1.000 68 0% 95 35.8% 0 - probably_damaging(0.973) tolerated(0.13) deleterious(0.667) NULL STON1-GTF2A1L 286749 genome.wustl.edu 37 2 48848323 48848323 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_172311.1 +1 reviewed p.V751 0.549 153 0% 175 36.6% 0 - - - - HMMPfam_TFIIA,superfamily_TFIIA_helical LHCGR 3973 genome.wustl.edu 37 2 48915046 48915046 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000233.3 -1 reviewed p.F630 1.000 69 0% 67 29.9% 0 - - - - superfamily_Family A G protein-coupled receptor-like LHCGR 3973 genome.wustl.edu 37 2 48915452 48915452 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000233.3 -1 reviewed p.S495F 0.001 152 0% 191 34.6% 0 - benign(0.045) tolerated(0.75) neutral(0.004) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like LHCGR 3973 genome.wustl.edu 37 2 48921364 48921364 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000233.3 -1 reviewed p.L316I 0.333 217 0% 234 29.1% 0 - benign(0.014) deleterious(0) neutral(0.445) NULL LHCGR 3973 genome.wustl.edu 37 2 48952828 48952828 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000233.3 -1 reviewed p.R124* 1.000 279 0% 306 32% 0 - - - - superfamily_L domain-like NRXN1 9378 genome.wustl.edu 37 2 50318568 50318568 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001135659.1 -1 reviewed p.N1244T 1.000 207 0% 234 32.9% 0 - benign(0.022) tolerated(0.23) neutral(0.043) HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 NRXN1 9378 genome.wustl.edu 37 2 50318575 50318575 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001135659.1 -1 reviewed p.E1242* 1.000 211 0% 231 34.6% 0 - - - - HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 ASB3 51130 genome.wustl.edu 37 2 53921045 53921045 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016115.3 -1 reviewed p.A449T 0.215 240 0% 229 29.3% 34 41.1% benign(0) tolerated(0.7) neutral(0.002) NULL CHAC2 494143 genome.wustl.edu 37 2 54001559 54001559 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001008708.2 +1 provisional p.S151Y 1.000 121 0% 154 34.4% 7 42.8% benign(0.011) deleterious(0.02) neutral(0.384) HMMPfam_ChaC GPR75 10936 genome.wustl.edu 37 2 54080682 54080682 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006794.2 -1 validated p.K404N 1.000 56 0% 82 34.1% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) superfamily_Family A G protein-coupled receptor-like GPR75 10936 genome.wustl.edu 37 2 54080989 54080989 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006794.2 -1 validated p.R302Q 1.000 295 0% 591 36% 0 - probably_damaging(0.999) tolerated(0.37) deleterious(0.509) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like PSME4 23198 genome.wustl.edu 37 2 54125482 54125482 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014614.2 -1 validated p.E1144D 0.999 77 0% 89 36% 4 100% benign(0.036) tolerated(0.65) neutral(0.005) superfamily_ARM repeat PSME4 23198 genome.wustl.edu 37 2 54135703 54135703 + Splice_Site SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014614.2 -1 validated e23-1 1.000 56 0% 76 28.9% 0 - - - - - SPTBN1 6711 genome.wustl.edu 37 2 54880970 54880970 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003128.2 +1 reviewed p.I1934 0.755 74 0% 55 27.3% 52 26.9% - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat EML6 400954 genome.wustl.edu 37 2 55077136 55077136 + Nonsense_Mutation SNP G G T rs146306448 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001039753.2 +1 validated p.E409* 1.000 135 0% 193 31.6% 0 - - - - HMMSmart_SM00320,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase,superfamily_WD40 repeat-like EML6 400954 genome.wustl.edu 37 2 55189683 55189683 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001039753.2 +1 validated p.D1665Y 1.000 127 0% 233 22.7% 0 - probably_damaging(0.992) deleterious(0.04) deleterious(0.796) superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase C2orf63 130162 genome.wustl.edu 37 2 55436644 55436644 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152385.2 -1 validated p.R237I 0.032 95 0% 114 27.2% 0 - benign(0.15) tolerated(0.19) neutral(0.062) NULL C2orf63 130162 genome.wustl.edu 37 2 55449387 55449387 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152385.2 -1 validated p.R54Q 0.989 259 0% 525 24.6% 0 - possibly_damaging(0.79) tolerated(0.26) neutral(0.331) NULL CCDC88A 55704 genome.wustl.edu 37 2 55555483 55555483 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001135597.1 -1 validated p.R981* 1.000 111 0% 96 39.6% 1 0% - - - NULL CCDC104 112942 genome.wustl.edu 37 2 55756044 55756044 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_080667.5 +1 validated p.D105N 1.000 96 0% 194 28.9% 67 20.8% probably_damaging(1) tolerated(0.17) deleterious(0.559) NULL SMEK2 57223 genome.wustl.edu 37 2 55792169 55792169 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001122964.1 -1 validated p.I648 1.000 180 0% 228 33.8% 11 27.2% - - - NULL SMEK2 57223 genome.wustl.edu 37 2 55805441 55805441 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001122964.1 -1 validated p.F502 0.001 164 0% 250 31.2% 1 100% - - - superfamily_ARM repeat SMEK2 57223 genome.wustl.edu 37 2 55825807 55825807 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001122964.1 -1 validated p.V222 0.985 96 0% 198 33.8% 10 30% - - - HMMPfam_DUF625,superfamily_ARM repeat SMEK2 57223 genome.wustl.edu 37 2 55831120 55831120 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001122964.1 -1 validated p.I97M 0.992 105 0% 152 47.4% 4 50% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_PH domain-like FANCL 55120 genome.wustl.edu 37 2 58449154 58449154 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001114636.1 -1 reviewed p.Q99H 0.890 235 0% 275 36% 13 53.8% possibly_damaging(0.502) tolerated(0.12) neutral(0.428) NULL BCL11A 53335 genome.wustl.edu 37 2 60687753 60687753 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022893.3 -1 reviewed p.T765M 1.000 143 0% 189 37.6% 6 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_C2H2 and C2HC zinc fingers PAPOLG 64895 genome.wustl.edu 37 2 61022118 61022118 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022894.2 +1 reviewed p.S692F 1.000 292 0% 454 30.8% 5 40% benign(0.098) deleterious(0.02) neutral(0.391) NULL PUS10 150962 genome.wustl.edu 37 2 61180144 61180144 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144709.2 -1 validated p.L432 0.994 402 0% 621 31.4% 0 - - - - NULL USP34 9736 genome.wustl.edu 37 2 61493220 61493220 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014709.3 -1 validated p.S1839Y 1.000 228 0% 321 30.2% 12 41.6% benign(0.156) - - NULL USP34 9736 genome.wustl.edu 37 2 61546451 61546451 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014709.3 -1 validated p.E1009* 1.000 87 0% 114 20.2% 3 0% - - - NULL USP34 9736 genome.wustl.edu 37 2 61566712 61566712 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014709.3 -1 validated p.D869Y 1.000 174 0% 250 30.4% 2 100% probably_damaging(1) - - NULL XPO1 7514 genome.wustl.edu 37 2 61719615 61719615 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003400.3 -1 reviewed p.D523A 1.000 108 0% 176 36.4% 31 32.2% possibly_damaging(0.469) deleterious(0) deleterious(0.599) superfamily_ARM-type_fold EHBP1 23301 genome.wustl.edu 37 2 63170982 63170982 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015252.3 +1 reviewed p.K505N 1.000 210 0% 223 30.9% 1 0% possibly_damaging(0.737) deleterious(0) deleterious(0.714) HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain EHBP1 23301 genome.wustl.edu 37 2 63182737 63182737 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015252.3 +1 reviewed p.A836V 1.000 142 0% 203 32.5% 11 9% benign(0.01) tolerated(0.27) neutral(0.034) NULL MDH1 4190 genome.wustl.edu 37 2 63834040 63834040 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005917.2 +1 reviewed p.F308L 1.000 147 0% 227 28.6% 198 47.4% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Ldh_1_C,superfamily_LDH C-terminal domain-like UGP2 7360 genome.wustl.edu 37 2 64084990 64084990 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006759.3 +1 reviewed p.R59W 1.000 196 0% 198 29.3% 43 39.5% possibly_damaging(0.755) tolerated(0.1) deleterious(0.565) HMMPfam_UDPGP,superfamily_Nucleotide-diphospho-sugar transferases VPS54 51542 genome.wustl.edu 37 2 64160883 64160883 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016516.2 -1 reviewed p.P555S 1.000 170 0% 161 31.7% 5 20% probably_damaging(0.991) tolerated(0.13) deleterious(0.697) NULL VPS54 51542 genome.wustl.edu 37 2 64174532 64174532 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016516.2 -1 reviewed p.K410N 1.000 122 0% 62 24.2% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL MEIS1 4211 genome.wustl.edu 37 2 66667004 66667004 + Missense_Mutation SNP T T A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002398.2 +1 reviewed p.I90N 1.000 241 0% 353 32.9% 30 40% possibly_damaging(0.947) deleterious(0) deleterious(0.835) NULL WDR92 116143 genome.wustl.edu 37 2 68358530 68358530 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138458.2 -1 validated p.M305R 1.000 95 1.1% 157 32.5% 5 20% benign(0) tolerated(0.79) neutral(0.001) superfamily_WD40_like PLEK 5341 genome.wustl.edu 37 2 68607522 68607522 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002664.2 +1 validated p.F35L 1.000 93 0% 122 24.6% 1 0% probably_damaging(0.993) deleterious(0.02) deleterious(0.833) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 PLEK 5341 genome.wustl.edu 37 2 68622831 68622831 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002664.2 +1 validated p.E312D 1.000 56 0% 106 34% 2 0% benign(0.002) tolerated(0.84) neutral(0.001) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 APLF 200558 genome.wustl.edu 37 2 68765185 68765185 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173545.2 +1 validated p.S329L 0.000 142 0% 145 38.6% 0 - benign(0) tolerated(0.31) neutral(0.027) NULL PROKR1 10887 genome.wustl.edu 37 2 68882355 68882355 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138964.2 +1 validated p.R277C 1.000 98 0% 141 36.2% 0 - probably_damaging(0.989) deleterious(0) deleterious(0.884) HMMPfam_7tm_1,superfamily_SSF81321 PROKR1 10887 genome.wustl.edu 37 2 68882627 68882627 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138964.2 +1 validated p.G367 0.014 84 0% 146 34.9% 0 - - - - superfamily_SSF81321 PROKR1 10887 genome.wustl.edu 37 2 68882682 68882682 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138964.2 +1 validated p.E386* 1.000 73 0% 122 24.6% 0 - - - - NULL BMP10 27302 genome.wustl.edu 37 2 69093085 69093085 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014482.1 -1 reviewed p.A318D 1.000 213 0.5% 203 31.5% 0 - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) superfamily_SSF57501 ANTXR1 84168 genome.wustl.edu 37 2 69409006 69409006 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032208.2 +1 reviewed p.R393I 1.000 119 0% 167 28.7% 10 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL GFPT1 2673 genome.wustl.edu 37 2 69575380 69575380 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002056.2 -1 reviewed p.R293Q 1.000 141 0% 256 34% 28 64.2% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) superfamily_SSF56235 NFU1 27247 genome.wustl.edu 37 2 69646700 69646700 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001002755.1 -1 validated p.F113L 0.998 82 0% 124 28.2% 24 50% possibly_damaging(0.854) deleterious(0.01) deleterious(0.735) HMMPfam_Nfu_N,superfamily_NIF_FeS_clus_asmbl_NifU-like_N ATP6V1B1 525 genome.wustl.edu 37 2 71187132 71187132 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001692.3 +1 reviewed p.P170H 1.000 60 0% 70 28.6% 4 50% benign(0.149) deleterious(0) neutral(0.458) HMMPfam_ATP-synt_ab,superfamily_SSF52540 MPHOSPH10 10199 genome.wustl.edu 37 2 71357856 71357856 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005791.1 +1 reviewed p.A21S 0.969 23 0% 18 38.9% 14 28.5% benign(0.026) tolerated(0.08) neutral(0.301) HMMPfam_Mpp10 MPHOSPH10 10199 genome.wustl.edu 37 2 71361229 71361229 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005791.1 +1 reviewed p.S307L 0.019 158 0% 327 30.3% 14 42.8% benign(0.07) tolerated(0.07) neutral(0.324) HMMPfam_Mpp10 MPHOSPH10 10199 genome.wustl.edu 37 2 71375192 71375192 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005791.1 +1 reviewed p.V541L 0.999 206 0% 282 33.3% 34 35.2% possibly_damaging(0.485) deleterious(0.05) deleterious(0.506) HMMPfam_Mpp10 ZNF638 27332 genome.wustl.edu 37 2 71590318 71590318 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001014972.1 +1 reviewed p.R472K 1.000 121 0% 95 33.7% 8 75% probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL ZNF638 27332 genome.wustl.edu 37 2 71591296 71591296 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001014972.1 +1 reviewed p.R544Q 1.000 168 0% 211 37% 12 75% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZNF638 27332 genome.wustl.edu 37 2 71633282 71633282 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001014972.1 +1 reviewed p.R1009* 0.480 250 0% 401 30.9% 11 18.1% - - - superfamily_RNA-binding domain RBD ZNF638 27332 genome.wustl.edu 37 2 71650362 71650362 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001014972.1 +1 reviewed p.L1240I 0.874 72 0% 126 44.4% 4 25% benign(0.001) tolerated(0.31) neutral(0.027) NULL EXOC6B 23233 genome.wustl.edu 37 2 72740333 72740333 + Silent SNP T T A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015189.1 -1 validated p.V365 0.993 274 0% 290 23.4% 1 0% - - - NULL EXOC6B 23233 genome.wustl.edu 37 2 72958328 72958328 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015189.1 -1 validated p.R125I 1.000 140 0% 147 35.4% 7 57.1% probably_damaging(0.979) deleterious(0.01) deleterious(0.828) NULL SFXN5 94097 genome.wustl.edu 37 2 73195600 73195600 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000411783 -1 known p.R219Q 0.990 56 0% 85 30.6% 6 33.3% unknown(0) tolerated(0.12) - HMMPfam_Mtc RAB11FIP5 26056 genome.wustl.edu 37 2 73315741 73315741 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015470.2 -1 validated p.S335 0.316 14 0% 15 26.7% 3 33.3% - - - NULL NOTO 344022 genome.wustl.edu 37 2 73435695 73435695 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001134462.1 +1 provisional p.K184E 0.997 129 0% 245 38% 0 - probably_damaging(0.999) tolerated(0.45) deleterious(0.502) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like FBXO41 150726 genome.wustl.edu 37 2 73490351 73490351 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080410.2 -1 validated p.L782I 0.999 67 0% 104 33.7% 0 - possibly_damaging(0.595) tolerated(0.08) deleterious(0.506) superfamily_RNI-like EGR4 1961 genome.wustl.edu 37 2 73519769 73519769 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001965.3 -1 validated p.E93K 1.000 37 0% 71 31% 0 - possibly_damaging(0.653) deleterious(0) deleterious(0.674) NULL ALMS1 7840 genome.wustl.edu 37 2 73677872 73677872 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015120.4 +1 reviewed p.K1405N 0.000 95 0% 81 17.3% 2 50% possibly_damaging(0.55) tolerated(0.5) neutral(0.197) NULL ALMS1 7840 genome.wustl.edu 37 2 73680158 73680158 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015120.4 +1 reviewed p.I2167 0.002 115 0% 103 27.2% 5 40% - - - NULL ALMS1 7840 genome.wustl.edu 37 2 73717091 73717091 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015120.4 +1 reviewed p.R2668* 0.776 98 0% 102 28.4% 1 100% - - - NULL ALMS1 7840 genome.wustl.edu 37 2 73717890 73717890 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015120.4 +1 reviewed p.A2934V 0.002 105 0% 210 31.4% 1 0% benign(0) deleterious(0.01) neutral(0.406) NULL ALMS1 7840 genome.wustl.edu 37 2 73800208 73800208 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015120.4 +1 reviewed p.S3734L 1.000 59 0% 51 35.3% 7 71.4% benign(0.019) tolerated(1) neutral(0.001) NULL ALMS1 7840 genome.wustl.edu 37 2 73830389 73830389 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015120.4 +1 reviewed p.N4106S 0.009 282 0% 524 32.3% 30 43.3% benign(0) deleterious(0.04) neutral(0.349) NULL C2orf78 388960 genome.wustl.edu 37 2 74042747 74042747 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080474.1 +1 predicted p.P466H 0.000 124 0% 245 35.5% 0 - possibly_damaging(0.942) tolerated(0.54) neutral(0.395) NULL C2orf78 388960 genome.wustl.edu 37 2 74043719 74043719 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080474.1 +1 predicted p.K790T 0.001 189 0% 396 10.9% 0 - benign(0.011) tolerated(0.19) neutral(0.050) NULL STAMBP 10617 genome.wustl.edu 37 2 74058130 74058130 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006463.3 +1 reviewed p.I49M 1.000 106 0% 174 36.8% 23 43.4% benign(0.417) tolerated(0.12) neutral(0.396) NULL SLC4A5 57835 genome.wustl.edu 37 2 74462306 74462306 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021196.3 -1 reviewed p.F785L 1.000 114 0% 228 32.9% 0 - benign(0.037) tolerated(0.54) neutral(0.009) HMMPfam_HCO3_cotransp C2orf81 388963 genome.wustl.edu 37 2 74642547 74642547 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145054.1 -1 predicted p.A226T 0.000 16 0% 26 30.8% 13 23% possibly_damaging(0.799) tolerated(0.23) neutral(0.342) NULL CCDC142 84865 genome.wustl.edu 37 2 74707982 74707982 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032779.3 -1 validated p.Y466H 0.058 63 0% 78 37.2% 7 28.5% benign(0) tolerated(0.54) neutral(0.007) NULL DQX1 165545 genome.wustl.edu 37 2 74746774 74746774 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_133637.2 -1 validated p.R572Q 0.928 236 0% 380 30.5% 0 - benign(0.066) deleterious(0.03) neutral(0.369) HMMPfam_DUF1605 HTRA2 27429 genome.wustl.edu 37 2 74759768 74759768 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013247.4 +1 reviewed p.R380* 1.000 165 0% 326 37.1% 79 3.7% - - - HMMSmart_SM00228,superfamily_PDZ domain-like HK2 3099 genome.wustl.edu 37 2 75101560 75101560 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000189.4 +1 reviewed p.N287D 1.000 87 0% 109 30.3% 6 83.3% probably_damaging(0.993) deleterious(0.03) deleterious(0.815) HMMPfam_Hexokinase_2,superfamily_SSF53067 MRPL19 9801 genome.wustl.edu 37 2 75874021 75874021 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014763.3 +1 reviewed p.A30T 0.000 11 0% 17 35.3% 15 66.6% benign(0) tolerated(0.13) neutral(0.253) NULL MRPL19 9801 genome.wustl.edu 37 2 75879338 75879338 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014763.3 +1 reviewed p.D98Y 1.000 81 0% 53 20.8% 25 28% probably_damaging(1) deleterious(0) deleterious(0.945) NULL GCFC2 6936 genome.wustl.edu 37 2 75893127 75893127 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003203.4 -1 validated p.S719Y 1.000 219 0% 183 31.1% 10 50% probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_GCFC LRRTM4 80059 genome.wustl.edu 37 2 77746338 77746338 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001134745.1 -1 validated p.K219N 1.000 108 0% 68 29.4% 0 - probably_damaging(0.971) deleterious(0.01) deleterious(0.819) HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like REG3A 5068 genome.wustl.edu 37 2 79384818 79384818 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002580.1 -1 reviewed p.E114K 0.002 149 0% 160 39.4% 0 - possibly_damaging(0.885) tolerated(0.44) neutral(0.358) HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like CTNNA2 1496 genome.wustl.edu 37 2 80097000 80097000 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004389.3 +1 validated p.R175H 1.000 148 0% 224 30.8% 3 66.6% possibly_damaging(0.836) tolerated(0.27) neutral(0.353) HMMPfam_Vinculin,superfamily_alpha-catenin/vinculin CTNNA2 1496 genome.wustl.edu 37 2 80101439 80101439 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004389.3 +1 validated p.E275K 1.000 46 0% 36 44.4% 4 75% benign(0.023) tolerated(0.14) neutral(0.251) HMMPfam_Vinculin CTNNA2 1496 genome.wustl.edu 37 2 80874923 80874923 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004389.3 +1 validated p.R882* 0.998 70 0% 52 42.3% 4 50% - - - NULL DNAH6 1768 genome.wustl.edu 37 2 84752747 84752747 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001370.1 +1 validated p.R95Q 0.989 140 0% 108 38.9% 1 0% possibly_damaging(0.904) tolerated(0.08) deleterious(0.658) NULL DNAH6 1768 genome.wustl.edu 37 2 84771460 84771460 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001370.1 +1 validated p.R256* 0.988 95 0% 71 32.4% 0 - - - - NULL DNAH6 1768 genome.wustl.edu 37 2 84774398 84774398 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001370.1 +1 validated p.R313* 1.000 155 0% 93 23.7% 0 - - - - NULL DNAH6 1768 genome.wustl.edu 37 2 84800650 84800650 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001370.1 +1 validated p.F621L 0.952 178 0% 187 33.2% 0 - benign(0.253) tolerated(0.27) neutral(0.059) NULL DNAH6 1768 genome.wustl.edu 37 2 84886174 84886174 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001370.1 +1 validated p.L1989I 0.000 177 0% 137 21.9% 0 - benign(0.001) tolerated(0.62) neutral(0.004) NULL DNAH6 1768 genome.wustl.edu 37 2 84886244 84886244 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001370.1 +1 validated p.S2012Y 1.000 172 0% 151 37.1% 2 50% possibly_damaging(0.673) deleterious(0.04) deleterious(0.588) NULL DNAH6 1768 genome.wustl.edu 37 2 84899469 84899469 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001370.1 +1 validated p.R2158Q 0.712 169 0% 182 25.8% 0 - benign(0.017) tolerated(0.22) neutral(0.043) HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH6 1768 genome.wustl.edu 37 2 84930558 84930558 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001370.1 +1 validated p.E2701* 1.000 118 0% 124 18.5% 0 - - - - NULL C2orf89 129293 genome.wustl.edu 37 2 85097824 85097824 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080824.1 -1 predicted p.R65Q 0.983 55 0% 102 28.4% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL KCMF1 56888 genome.wustl.edu 37 2 85276557 85276557 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020122.4 +1 validated p.A224T 1.000 130 0% 262 34.7% 93 48.3% benign(0.01) tolerated(1) neutral(0.001) NULL GGCX 2677 genome.wustl.edu 37 2 85785583 85785583 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000821.4 -1 reviewed p.F173L 1.000 74 0% 186 40.9% 26 19.2% benign(0.004) tolerated(0.8) neutral(0.001) HMMPfam_VKG_Carbox,HMMSmart_HTTM GGCX 2677 genome.wustl.edu 37 2 85788077 85788077 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000821.4 -1 reviewed p.I25 0.085 133 0% 257 26.8% 13 30.7% - - - NULL PTCD3 55037 genome.wustl.edu 37 2 86360331 86360331 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017952.5 +1 validated p.M468I 1.000 324 0% 513 32.9% 24 45.8% possibly_damaging(0.777) tolerated(0.35) neutral(0.310) NULL KDM3A 55818 genome.wustl.edu 37 2 86676967 86676967 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018433.5 +1 reviewed p.R75I 1.000 313 0% 329 35% 11 45.4% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL CHMP3 51652 genome.wustl.edu 37 2 86734659 86734659 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016079.2 -1 reviewed p.E156K 1.000 375 0% 599 36.6% 115 43.4% benign(0.015) deleterious(0.01) neutral(0.406) HMMPfam_Snf7 LOC730268 730268 genome.wustl.edu 37 2 88037357 88037357 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002342213.1 +1 model p.S645R 1.000 493 0% 651 15.5% 15 6.6% - - - NULL THNSL2 55258 genome.wustl.edu 37 2 88472860 88472860 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018271.3 +1 validated p.G64D 0.014 81 0% 65 32.3% 1 0% benign(0.01) tolerated(0.55) neutral(0.007) superfamily_Tryptophan synthase beta subunit-like PLP-dependent enzymes C2orf51 200523 genome.wustl.edu 37 2 88825973 88825973 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152670.2 +1 validated p.Q26 0.004 137 0% 272 32.7% 0 - - - - NULL RPIA 22934 genome.wustl.edu 37 2 89028845 89028845 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144563.2 +1 reviewed p.R151Q 1.000 155 0% 163 35% 16 12.5% benign(0.033) tolerated(1) neutral(0.002) HMMPfam_Rib_5-P_isom_A,superfamily_SSF100950 RPIA 22934 genome.wustl.edu 37 2 89036173 89036173 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144563.2 +1 reviewed p.R240* 1.000 259 0% 373 32.2% 24 12.5% - - - HMMPfam_Rib_5-P_isom_A,superfamily_SSF75445 ANKRD36BP2 645784 genome.wustl.edu 37 2 89092005 89092005 + RNA SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NR_015424.1 +1 predicted NULL 0.122 353 0% 346 27.5% 0 - - - - - IGKC 3514 genome.wustl.edu 37 2 89157052 89157052 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000390237 -1 known p.R49W 0.000 245 0.4% 292 38% 3659 0% probably_damaging(0.995) tolerated(0.08) deleterious(0.758) HMMPfam_C1-set,HMMSmart_SM00407,superfamily_Immunoglobulin IGKC 3514 genome.wustl.edu 37 2 89157139 89157139 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000390237 -1 known p.L20M 0.001 171 0% 290 30.7% 3411 0% possibly_damaging(0.932) deleterious(0) deleterious(0.823) HMMPfam_C1-set,superfamily_Immunoglobulin IGKV3-7 28915 genome.wustl.edu 37 2 89278274 89278274 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000390247 -1 known p.E21* 0.005 234 0% 261 36.4% 0 - - - - HMMPfam_V-set,superfamily_Immunoglobulin IGKV3-20 28912 genome.wustl.edu 37 2 89442057 89442057 + Silent SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000492167 -1 known p.P116 0.532 277 0% 322 19.6% 3 0% - - - HMMSmart_SM00409 IGKV6-21 28906 genome.wustl.edu 37 2 89459492 89459492 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000390256 -1 known p.F29V 0.394 207 0% 219 27.9% 1 0% benign(0.183) tolerated(0.33) neutral(0.041) HMMPfam_V-set,superfamily_SSF48726 IGKV2-28 28921 genome.wustl.edu 37 2 89521225 89521225 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000482769 -1 known p.A105V 0.996 204 0% 202 14.4% 15 0% probably_damaging(0.987) tolerated(0.11) deleterious(0.708) HMMSmart_SM00406,HMMPfam_V-set,superfamily_Immunoglobulin IGKV1-37 28931 genome.wustl.edu 37 2 89597190 89597190 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000465170 -1 known p.K61R 1.000 327 0% 374 19.5% 0 - possibly_damaging(0.613) tolerated(0.14) neutral(0.462) HMMSmart_SM00406,HMMPfam_V-set,superfamily_Immunoglobulin IGKV2D-29 28882 genome.wustl.edu 37 2 89987043 89987043 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000491977 +1 known p.V108 0.231 162 0% 197 35% 2 0% - - - HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin MRPS5 64969 genome.wustl.edu 37 2 95780830 95780830 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031902.3 -1 reviewed p.P86 0.981 160 0% 267 28.5% 21 42.8% - - - NULL LOC344065 344065 genome.wustl.edu 37 2 95880508 95880508 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_292895.7 +1 model p.I258 1.000 58 0% 28 28.6% 1 100% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers TRIM43 129868 genome.wustl.edu 37 2 96262063 96262063 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138800.1 +1 provisional p.E207D 0.005 501 0% 749 29.1% 0 - benign(0) tolerated(0.41) neutral(0.015) NULL LOC400986 400986 genome.wustl.edu 37 2 96555726 96555726 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_001717763.2 -1 model p.Q609H 0.001 336 0% 110 36.4% 1 100% possibly_damaging(0.908) tolerated(0.15) deleterious(0.603) NULL LOC400986 400986 genome.wustl.edu 37 2 96581771 96581771 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_001717763.2 -1 model p.S521 0.000 276 0% 151 37.7% 1 0% - - - NULL ADRA2B 151 genome.wustl.edu 37 2 96781538 96781538 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000409345 -1 known p.A117 0.186 36 0% 38 26.3% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like NCAPH 23397 genome.wustl.edu 37 2 97024853 97024853 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015341.3 +1 reviewed p.E427* 1.000 143 0% 274 32.1% 10 10% - - - HMMPfam_Barren FER1L5 90342 genome.wustl.edu 37 2 97357028 97357028 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001113382.1 +1 provisional p.V942M 0.000 22 0% 33 27.3% 0 - benign(0.429) tolerated(0.27) neutral(0.173) HMMSmart_SM00694 FER1L5 90342 genome.wustl.edu 37 2 97369060 97369060 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001113382.1 +1 provisional p.D1926N 0.687 79 0% 82 32.9% 0 - probably_damaging(0.994) tolerated(0.09) deleterious(0.748) NULL FER1L5 90342 genome.wustl.edu 37 2 97369283 97369283 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001113382.1 +1 provisional p.E1941 1.000 101 0% 177 42.4% 1 0% - - - NULL CNNM3 26505 genome.wustl.edu 37 2 97490892 97490892 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017623.4 +1 validated p.I441 0.967 49 0% 54 25.9% 16 37.5% - - - HMMPfam_CBS CNNM3 26505 genome.wustl.edu 37 2 97492634 97492634 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017623.4 +1 validated p.F478L 1.000 99 0% 159 34.6% 9 33.3% benign(0.292) tolerated(0.07) neutral(0.409) NULL SEMA4C 54910 genome.wustl.edu 37 2 97526716 97526716 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017789.4 -1 validated p.S717G 1.000 19 0% 41 43.9% 68 45.5% possibly_damaging(0.664) tolerated(0.19) neutral(0.284) NULL FAM178B 51252 genome.wustl.edu 37 2 97587388 97587388 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001122646.2 -1 validated p.L399 1.000 43 0% 71 29.6% 2 100% - - - NULL FAM178B 51252 genome.wustl.edu 37 2 97626167 97626167 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001122646.2 -1 validated p.E217* 1.000 45 0% 83 25.3% 2 100% - - - NULL ANKRD36 375248 genome.wustl.edu 37 2 97788714 97788714 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000461153 +1 known p.I193V 0.000 367 0% 430 30.2% 0 - benign(0) tolerated(1) - HMMPfam_Ank,superfamily_Ankyrin repeat ANKRD36 375248 genome.wustl.edu 37 2 97873558 97873558 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000461153 +1 known p.E888D 0.002 333 0% 110 24.5% 2 50% benign(0.018) deleterious(0.05) neutral(0.346) NULL ANKRD36 375248 genome.wustl.edu 37 2 97911336 97911336 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000461153 +1 known p.S1474Y 0.018 216 0% 314 19.7% 3 0% benign(0.113) tolerated(0.06) neutral(0.332) NULL ANKRD36B 57730 genome.wustl.edu 37 2 98192888 98192888 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000258459 -1 known p.E239D 0.025 124 0% 86 27.9% 0 - - - - superfamily_Ankyrin repeat ACTR1B 10120 genome.wustl.edu 37 2 98275871 98275871 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005735.3 -1 reviewed p.E87K 1.000 55 0% 62 29% 35 34.2% possibly_damaging(0.668) deleterious(0) deleterious(0.681) HMMPfam_Actin,HMMSmart_ACTIN,superfamily_SSF53067 ZAP70 7535 genome.wustl.edu 37 2 98354285 98354285 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001079.3 +1 reviewed p.F516L 1.000 95 0% 126 32.5% 7 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) VWA3B 200403 genome.wustl.edu 37 2 98804511 98804511 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144992.4 +1 provisional p.L462S 1.000 159 0% 235 32.3% 0 - probably_damaging(0.959) deleterious(0.01) deleterious(0.808) NULL VWA3B 200403 genome.wustl.edu 37 2 98907171 98907171 + Nonstop_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000422503 +1 known p.*1081Y 0.000 65 0% 66 27.3% 0 - - - - NULL COA5 493753 genome.wustl.edu 37 2 99217222 99217222 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001008215.1 -1 predicted p.G73V 1.000 308 0% 502 28.9% 57 43.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL MGAT4A 11320 genome.wustl.edu 37 2 99272908 99272908 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012214.2 -1 reviewed p.S202Y 1.000 150 0% 181 40.3% 4 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Glyco_transf_54 C2orf55 343990 genome.wustl.edu 37 2 99412702 99412702 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_207362.2 -1 validated p.V877A 1.000 171 0% 240 33.8% 3 0% unknown(0) deleterious(0) - NULL TSGA10 80705 genome.wustl.edu 37 2 99725330 99725330 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025244.2 -1 validated p.S59Y 1.000 233 0% 219 28.3% 3 33.3% possibly_damaging(0.855) deleterious(0.01) deleterious(0.736) NULL C2orf15 150590 genome.wustl.edu 37 2 99766962 99766962 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144706.2 +1 predicted p.T15A 0.352 27 0% 59 42.4% 3 66.6% possibly_damaging(0.865) - - NULL REV1 51455 genome.wustl.edu 37 2 100022458 100022458 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016316.2 -1 reviewed p.S909P 0.985 132 0% 128 27.3% 14 21.4% benign(0) tolerated(0.14) neutral(0.249) NULL REV1 51455 genome.wustl.edu 37 2 100027262 100027262 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000438366 -1 known p.W17* 0.998 208 0% 274 36.5% 4 75% possibly_damaging(0.933) deleterious(0.04) deleterious(0.728) superfamily_Lesion bypass DNA polymerase (Y-family) little finger domain CHST10 9486 genome.wustl.edu 37 2 101010058 101010058 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004854.3 -1 validated p.F240 0.999 197 0% 277 34.7% 3 33.3% - - - HMMPfam_Sulfotransfer_2 TBC1D8 11138 genome.wustl.edu 37 2 101624655 101624655 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001102426.1 -1 validated p.I1017 0.650 35 0% 40 22.5% 16 31.2% - - - NULL TBC1D8 11138 genome.wustl.edu 37 2 101638191 101638191 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001102426.1 -1 validated p.E912* 1.000 202 0% 339 25.7% 10 0% - - - superfamily_EF-hand LOC100288163 100288163 genome.wustl.edu 37 2 101890950 101890950 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002342243.1 -1 model p.F36V 1.000 11 0% 11 45.5% 29 58.6% - - - HMMPfam_Pro_isomerase,superfamily_Cyclophilin-like RNF149 284996 genome.wustl.edu 37 2 101902625 101902625 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173647.3 -1 validated p.R293I 1.000 151 0% 212 35.8% 33 36.3% probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMSmart_RING,HMMPfam_zf-C3HC4,superfamily_SSF57850 RFX8 731220 genome.wustl.edu 37 2 102019213 102019213 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145664.1 -1 validated p.G310 0.994 42 0% 83 28.9% 0 - - - - NULL IL1R1 3554 genome.wustl.edu 37 2 102793015 102793015 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000877.2 +1 reviewed p.S502 0.962 158 0.6% 199 31.2% 7 28.5% - - - HMMPfam_TIR,HMMSmart_SM00255,superfamily_Toll/Interleukin receptor TIR domain IL1RL2 8808 genome.wustl.edu 37 2 102842370 102842370 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003854.2 +1 reviewed p.R335Q 0.000 236 0% 329 31% 0 - benign(0.027) tolerated(0.57) neutral(0.007) NULL IL1RL2 8808 genome.wustl.edu 37 2 102855677 102855677 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003854.2 +1 reviewed p.K568N 0.000 165 0% 273 27.8% 0 - benign(0.382) deleterious(0) deleterious(0.567) NULL IL1RL1 9173 genome.wustl.edu 37 2 102968093 102968093 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016232.4 +1 reviewed p.E461 1.000 90 0% 141 35.5% 0 - - - - HMMPfam_TIR,HMMSmart_SM00255,superfamily_Toll/Interleukin receptor TIR domain IL18R1 8809 genome.wustl.edu 37 2 102988511 102988511 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003855.2 +1 reviewed p.K134T 0.004 64 0% 69 34.8% 0 - benign(0.002) tolerated(0.35) neutral(0.021) superfamily_SSF48726 IL18RAP 8807 genome.wustl.edu 37 2 103039793 103039793 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003853.2 +1 reviewed p.G19E 0.001 425 0% 422 28% 0 - benign(0.134) deleterious(0) neutral(0.456) NULL IL18RAP 8807 genome.wustl.edu 37 2 103040386 103040386 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003853.2 +1 reviewed p.L62 0.000 130 0% 195 36.9% 0 - - - - NULL IL18RAP 8807 genome.wustl.edu 37 2 103067461 103067461 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003853.2 +1 reviewed p.R455I 1.000 143 0% 159 32.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TIR,HMMSmart_SM00255,superfamily_Toll/Interleukin receptor TIR domain SLC9A4 389015 genome.wustl.edu 37 2 103095696 103095696 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001011552.3 +1 validated p.R219C 0.000 66 0% 64 37.5% 1 100% benign(0.005) tolerated(0.05) neutral(0.345) HMMPfam_Na_H_Exchanger SLC9A2 6549 genome.wustl.edu 37 2 103274063 103274063 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003048.3 +1 validated p.E110D 1.000 227 0% 386 33.4% 1 100% probably_damaging(0.984) deleterious(0) deleterious(0.875) HMMPfam_Na_H_Exchanger LOC644265 644265 genome.wustl.edu 37 2 104240286 104240286 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_927443.2 +1 model p.D85Y 0.012 54 0% 61 26.2% 1 0% - - - HMMPfam_F_actin_cap_B,superfamily_Subunits of heterodimeric actin filament capping protein Capz NCK2 8440 genome.wustl.edu 37 2 106471619 106471619 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004720.2 +1 reviewed p.D34N 1.000 91 0% 118 37.3% 39 33.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SH3 C2orf40 84417 genome.wustl.edu 37 2 106690449 106690449 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032411.2 +1 validated p.E79K 0.998 61 0% 67 26.9% 1 0% benign(0.235) deleterious(0.04) neutral(0.372) NULL ENSG00000169659 0 genome.wustl.edu 37 2 107004097 107004097 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000324709 +1 known p.D90Y 0.005 330 0% 468 25.2% 0 - - - - HMMPfam_PAN_1,HMMSmart_PAN_AP,superfamily_SSF57414 RGPD3 653489 genome.wustl.edu 37 2 107041132 107041132 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001144013.1 -1 validated p.R1097 0.985 142 0% 205 30.7% 0 - - - - HMMPfam_Ran_BP1,superfamily_SSF50729 RGPD3 653489 genome.wustl.edu 37 2 107042469 107042469 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001144013.1 -1 validated p.A894V 1.000 336 0% 344 14.8% 1 0% benign(0.051) tolerated(0.06) neutral(0.326) NULL RGPD3 653489 genome.wustl.edu 37 2 107050687 107050687 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001144013.1 -1 validated p.K734N 0.388 495 0% 716 27.8% 0 - benign(0.378) tolerated(0.47) neutral(0.132) NULL RGPD3 653489 genome.wustl.edu 37 2 107084704 107084704 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001144013.1 -1 validated p.S14L 1.000 59 0% 51 23.5% 0 - possibly_damaging(0.903) deleterious(0.04) deleterious(0.707) NULL RGPD4 285190 genome.wustl.edu 37 2 108453075 108453075 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182588.2 +1 validated p.F30L 0.997 158 0% 140 26.4% 0 - possibly_damaging(0.892) tolerated(0.41) neutral(0.366) superfamily_SSF48452 RGPD4 285190 genome.wustl.edu 37 2 108455408 108455408 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182588.2 +1 validated p.I131M 0.912 408 0% 624 26% 0 - possibly_damaging(0.836) deleterious(0.04) deleterious(0.668) superfamily_SSF48452 RGPD4 285190 genome.wustl.edu 37 2 108478152 108478152 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182588.2 +1 validated p.K721Q 1.000 664 0% 975 22.5% 0 - probably_damaging(0.958) deleterious(0.04) deleterious(0.750) NULL RGPD4 285190 genome.wustl.edu 37 2 108487346 108487346 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182588.2 +1 validated p.I962M 0.997 471 0% 513 22.2% 1 0% benign(0.178) tolerated(0.15) neutral(0.258) NULL GCC2 9648 genome.wustl.edu 37 2 109086983 109086983 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_181453.3 +1 reviewed p.V400I 0.001 34 0% 39 28.2% 2 50% benign(0.001) tolerated(0.74) neutral(0.002) NULL GCC2 9648 genome.wustl.edu 37 2 109124081 109124081 + Nonsense_Mutation SNP C C T rs185024170 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_181453.3 +1 reviewed p.R1684* 0.996 314 0% 361 30.2% 5 40% - - - NULL RANBP2 5903 genome.wustl.edu 37 2 109380602 109380602 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006267.4 +1 reviewed p.R1203C 1.000 60 0% 68 27.9% 6 0% unknown(0) - - HMMPfam_Ran_BP1,HMMSmart_RanBD,superfamily_SSF50729 RANBP2 5903 genome.wustl.edu 37 2 109383155 109383155 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006267.4 +1 reviewed p.E2054* 1.000 200 0% 292 28.8% 7 28.5% - - - HMMPfam_Ran_BP1,HMMSmart_RanBD,superfamily_SSF50729 EDAR 10913 genome.wustl.edu 37 2 109527529 109527529 + Splice_Site SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022336.3 -1 reviewed e6-1 1.000 133 0% 193 36.8% 0 - - - - - NPHP1 4867 genome.wustl.edu 37 2 110902078 110902078 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000272.3 -1 reviewed p.S530F 0.983 155 0% 176 30.7% 11 36.3% probably_damaging(0.96) deleterious(0.02) deleterious(0.786) NULL LOC100288570 100288570 genome.wustl.edu 37 2 111144440 111144440 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002342255.1 -1 model p.L204 0.998 49 0% 60 18.3% 0 - - - - NULL ANAPC1 64682 genome.wustl.edu 37 2 112576464 112576464 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022662.2 -1 validated p.H1093P 1.000 123 0% 181 26% 9 11.1% possibly_damaging(0.923) tolerated(0.23) neutral(0.414) NULL ANAPC1 64682 genome.wustl.edu 37 2 112615884 112615884 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022662.2 -1 validated p.R453C 1.000 108 0% 177 24.3% 3 66.6% probably_damaging(1) tolerated(0.19) deleterious(0.549) NULL MERTK 10461 genome.wustl.edu 37 2 112687021 112687021 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006343.2 +1 reviewed p.S129Y 0.960 136 0% 300 33.7% 0 - probably_damaging(0.977) tolerated(0.69) neutral(0.421) HMMSmart_IG,HMMPfam_ig,superfamily_SSF48726 ZC3H6 376940 genome.wustl.edu 37 2 113082687 113082687 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198581.2 +1 validated p.A667T 1.000 129 0% 174 24.7% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL RGPD8 727851 genome.wustl.edu 37 2 113146915 113146915 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000302558 -1 known p.D1203Y 1.000 50 0% 62 19.4% 3 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL TTL 150465 genome.wustl.edu 37 2 113240002 113240002 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153712.4 +1 validated p.W27* 1.000 17 0% 15 26.7% 1 0% - - - NULL TTL 150465 genome.wustl.edu 37 2 113258824 113258824 + Missense_Mutation SNP G G A rs2943625 byCluster TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153712.4 +1 validated p.D171N 1.000 132 0% 164 28% 10 70% benign(0.029) tolerated(0.18) neutral(0.058) HMMPfam_TTL,superfamily_Glutathione synthetase ATP-binding domain-like POLR1B 84172 genome.wustl.edu 37 2 113308544 113308544 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019014.4 +1 validated p.E243* 1.000 253 0% 491 31.8% 3 33.3% - - - HMMPfam_RNA_pol_Rpb2_1,superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase IL36B 27177 genome.wustl.edu 37 2 113780298 113780298 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014438.3 -1 reviewed p.D150Y 0.012 422 0% 360 30.3% 0 - unknown(0) - - superfamily_Cytokine IL36B 27177 genome.wustl.edu 37 2 113786606 113786606 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014438.3 -1 reviewed p.E57D 0.000 306 0% 361 32.4% 0 - benign(0.001) tolerated(0.95) - superfamily_Cytokine CBWD2 150472 genome.wustl.edu 37 2 114252803 114252803 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_172003.3 +1 validated p.R353I 1.000 373 0% 490 26.5% 8 62.5% possibly_damaging(0.938) tolerated(0.18) neutral(0.440) HMMPfam_CobW_C,superfamily_Cbl_biosynth_CobW-like_C MIR1302-3 100302128 genome.wustl.edu 37 2 114340575 114340575 + RNA SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000408128 -1 known NULL 0.002 307 0% 468 13.9% 0 - - - - - SLC35F5 80255 genome.wustl.edu 37 2 114493430 114493430 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025181.2 -1 provisional p.F252L 1.000 83 0% 57 40.4% 14 64.2% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) HMMPfam_DUF6,superfamily_Multidrug resistance efflux transporter EmrE DPP10 57628 genome.wustl.edu 37 2 116599880 116599880 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020868.3 +1 validated p.E784* 1.000 156 0% 227 34.4% 0 - - - - HMMPfam_Peptidase_S9 DDX18 8886 genome.wustl.edu 37 2 118582580 118582580 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006773.3 +1 reviewed p.R424Q 1.000 218 0% 326 30.7% 24 54.1% benign(0.012) tolerated(0.53) neutral(0.008) superfamily_SSF52540 DDX18 8886 genome.wustl.edu 37 2 118586870 118586870 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006773.3 +1 reviewed p.E566D 0.986 143 0% 155 32.3% 31 51.6% benign(0.006) deleterious(0.01) neutral(0.406) superfamily_SSF52540 DDX18 8886 genome.wustl.edu 37 2 118588172 118588172 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006773.3 +1 reviewed p.E629* 0.468 164 0.6% 285 31.9% 42 59.5% - - - NULL DDX18 8886 genome.wustl.edu 37 2 118588267 118588267 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006773.3 +1 reviewed p.K660N 0.998 137 0% 240 31.2% 52 34.6% benign(0.009) tolerated(0.09) neutral(0.297) NULL CCDC93 54520 genome.wustl.edu 37 2 118703115 118703115 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019044.3 -1 validated p.M447T 0.756 89 0% 148 23% 5 40% possibly_damaging(0.459) tolerated(0.39) neutral(0.166) NULL CCDC93 54520 genome.wustl.edu 37 2 118732843 118732843 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019044.3 -1 validated p.K224T 0.999 259 0% 311 30.9% 5 40% probably_damaging(0.992) tolerated(0.19) deleterious(0.497) NULL MARCO 8685 genome.wustl.edu 37 2 119731911 119731911 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006770.3 +1 reviewed p.L155I 0.700 147 0% 211 34.1% 0 - unknown(0) - - NULL MARCO 8685 genome.wustl.edu 37 2 119750012 119750012 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006770.3 +1 reviewed p.S404 0.456 288 0.3% 416 31.2% 0 - - - - NULL MARCO 8685 genome.wustl.edu 37 2 119750728 119750728 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006770.3 +1 reviewed p.V427 0.000 177 0% 232 35.3% 0 - - - - HMMPfam_SRCR,PatternScan_SRCR_1,HMMSmart_SM00202,superfamily_SRCR-like STEAP3 55240 genome.wustl.edu 37 2 120005311 120005311 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182915.2 +1 validated p.L193 0.000 34 0% 32 31.2% 3 66.6% - - - HMMPfam_F420_oxidored,superfamily_NAD(P)-binding Rossmann-fold domains PCDP1 200373 genome.wustl.edu 37 2 120369305 120369305 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001029996.3 +1 validated p.R147H 0.000 169 0% 189 28.6% 1 100% benign(0.21) tolerated(0.14) neutral(0.270) NULL TMEM177 80775 genome.wustl.edu 37 2 120438923 120438923 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001105198.1 +1 validated p.T165I 0.006 41 0% 54 29.6% 22 40.9% benign(0.012) tolerated(0.17) neutral(0.059) NULL PTPN4 5775 genome.wustl.edu 37 2 120714490 120714490 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002830.2 +1 reviewed p.R684K 1.000 110 0% 107 33.6% 4 50% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Y_phosphatase,HMMSmart_PTPc,superfamily_SSF52799 TSN 7247 genome.wustl.edu 37 2 122522878 122522878 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004622.2 +1 reviewed p.V208L 1.000 113 0% 160 26.3% 45 37.7% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_Translin,superfamily_Translin CNTNAP5 129684 genome.wustl.edu 37 2 125530386 125530386 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_130773.2 +1 reviewed p.E847D 1.000 342 0% 434 36.9% 0 - possibly_damaging(0.671) tolerated(0.38) neutral(0.256) HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 MAP3K2 10746 genome.wustl.edu 37 2 128095323 128095323 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006609.3 -1 reviewed p.G52V 1.000 198 0% 228 25.4% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_PB1,HMMSmart_SM00666 MYO7B 4648 genome.wustl.edu 37 2 128341701 128341701 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080527.1 +1 provisional p.E450K 1.000 101 0% 127 31.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO7B 4648 genome.wustl.edu 37 2 128393334 128393334 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080527.1 +1 provisional p.S1927L 0.520 57 0% 66 43.9% 0 - probably_damaging(0.998) tolerated(0.06) deleterious(0.797) HMMPfam_FERM_M,superfamily_Second domain of FERM,HMMSmart_SM00295 LIMS2 55679 genome.wustl.edu 37 2 128397848 128397848 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017980.4 -1 validated p.D291N 1.000 28 0% 56 30.4% 20 0% possibly_damaging(0.813) deleterious(0.03) deleterious(0.671) HMMPfam_LIM,HMMSmart_LIM,superfamily_SSF57716 GPR17 2840 genome.wustl.edu 37 2 128408761 128408761 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005291.2 +1 validated p.A179D 1.000 50 0% 87 32.2% 0 - probably_damaging(0.977) deleterious(0.01) deleterious(0.825) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like GPR17 2840 genome.wustl.edu 37 2 128409053 128409053 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005291.2 +1 validated p.F276 0.988 95 0% 124 33.9% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like SAP130 79595 genome.wustl.edu 37 2 128757907 128757907 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024545.3 -1 validated p.K357Q 1.000 432 0.5% 833 33.4% 13 23% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL UGGT1 56886 genome.wustl.edu 37 2 128880800 128880800 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020120.3 +1 validated p.E372K 1.000 63 0% 111 30.6% 5 40% probably_damaging(1) deleterious(0) deleterious(0.945) NULL UGGT1 56886 genome.wustl.edu 37 2 128917189 128917189 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020120.3 +1 validated p.Q819H 0.992 113 0% 181 40.9% 10 20% benign(0.008) tolerated(0.17) neutral(0.059) NULL POTEF 728378 genome.wustl.edu 37 2 130833023 130833023 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001099771.2 -1 validated p.K674N 0.044 138 0% 259 29.3% 0 - possibly_damaging(0.873) deleterious(0) deleterious(0.784) NULL TUBA3E 112714 genome.wustl.edu 37 2 130951526 130951526 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_207312.2 -1 validated p.E297K 1.000 154 0% 242 30.6% 0 - possibly_damaging(0.926) deleterious(0) deleterious(0.819) superfamily_Tub_FtsZ_C,HMMPfam_Tubulin_C CFC1 55997 genome.wustl.edu 37 2 131356288 131356288 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032545.2 -1 reviewed p.F58 0.000 212 0% 242 16.9% 0 - - - - NULL LOC653781 653781 genome.wustl.edu 37 2 131390210 131390210 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_929706.3 +1 model p.E427K 0.001 478 0% 523 13.2% 0 - unknown(0) deleterious(0) - NULL GPR148 344561 genome.wustl.edu 37 2 131487646 131487646 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_207364.2 +1 validated p.L308I 0.103 43 0% 56 21.4% 0 - possibly_damaging(0.864) deleterious(0.04) deleterious(0.683) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like FAM123C 205147 genome.wustl.edu 37 2 131519664 131519664 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001105193.1 +1 validated p.K7Q 1.000 21 0% 20 45% 0 - probably_damaging(0.983) deleterious(0) deleterious(0.873) NULL FAM123C 205147 genome.wustl.edu 37 2 131520144 131520144 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001105193.1 +1 validated p.R167W 0.262 27 0% 42 28.6% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_WTX GPR39 2863 genome.wustl.edu 37 2 133402871 133402871 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001508.2 +1 validated p.R352W 1.000 58 0% 91 41.8% 101 69.3% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Family A G protein-coupled receptor-like NCKAP5 344148 genome.wustl.edu 37 2 133539987 133539987 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_207363.2 -1 validated p.A1466V 1.000 150 0% 201 35.8% 2 0% probably_damaging(0.979) deleterious(0.01) deleterious(0.828) NULL NCKAP5 344148 genome.wustl.edu 37 2 133541319 133541319 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_207363.2 -1 validated p.A1022D 0.071 90 1.1% 180 34.4% 0 - possibly_damaging(0.49) tolerated(0.4) neutral(0.179) NULL NCKAP5 344148 genome.wustl.edu 37 2 133541980 133541980 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_207363.2 -1 validated p.K802Q 1.000 202 0% 248 29.4% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL NCKAP5 344148 genome.wustl.edu 37 2 133547753 133547753 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_207363.2 -1 validated p.A312V 0.936 216 0% 248 36.3% 1 0% unknown(0) deleterious(0.03) - NULL NCKAP5 344148 genome.wustl.edu 37 2 133971307 133971307 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000427594 -1 known p.E59* 0.993 203 0% 209 33% 1 0% benign(0.033) deleterious(0) neutral(0.446) NULL MGAT5 4249 genome.wustl.edu 37 2 135027964 135027964 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002410.3 +1 validated p.K83N 1.000 211 0% 276 33.7% 9 22.2% probably_damaging(0.999) tolerated(0.07) deleterious(0.809) NULL MGAT5 4249 genome.wustl.edu 37 2 135075130 135075130 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002410.3 +1 validated p.V146A 1.000 181 0% 233 31.8% 5 60% benign(0) tolerated(0.26) neutral(0.034) NULL MGAT5 4249 genome.wustl.edu 37 2 135095981 135095981 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002410.3 +1 validated p.K266T 1.000 64 0% 38 34.2% 8 62.5% possibly_damaging(0.777) tolerated(0.28) neutral(0.322) NULL CCNT2 905 genome.wustl.edu 37 2 135710987 135710987 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_058241.1 +1 reviewed p.S321Y 1.000 143 0% 285 32.3% 2 0% probably_damaging(0.979) deleterious(0) deleterious(0.867) NULL CCNT2 905 genome.wustl.edu 37 2 135711614 135711614 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_058241.1 +1 reviewed p.S530Y 1.000 43 0% 86 33.7% 11 63.6% possibly_damaging(0.688) deleterious(0) deleterious(0.691) NULL YSK4 80122 genome.wustl.edu 37 2 135745356 135745356 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025052.3 -1 validated p.E362D 0.003 119 0% 179 42.5% 0 - benign(0) tolerated(0.63) neutral(0.004) NULL RAB3GAP1 22930 genome.wustl.edu 37 2 135848633 135848633 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012233.2 +1 reviewed p.F72L 0.999 178 0% 241 32.8% 7 71.4% probably_damaging(0.999) tolerated(0.4) deleterious(0.506) NULL RAB3GAP1 22930 genome.wustl.edu 37 2 135878432 135878432 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012233.2 +1 reviewed p.R231Q 1.000 479 0% 705 35.2% 17 41.1% probably_damaging(1) tolerated(0.14) deleterious(0.750) NULL ZRANB3 84083 genome.wustl.edu 37 2 136026677 136026677 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032143.2 -1 provisional p.F414C 1.000 180 0% 282 30.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Helicase_C,HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases R3HDM1 23518 genome.wustl.edu 37 2 136362420 136362420 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015361.2 +1 provisional p.R2M 1.000 147 0% 192 33.3% 1 0% probably_damaging(0.959) deleterious(0) deleterious(0.847) NULL R3HDM1 23518 genome.wustl.edu 37 2 136467739 136467739 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015361.2 +1 provisional p.Y857D 0.990 135 0% 291 33.3% 13 38.4% probably_damaging(0.963) deleterious(0.02) deleterious(0.788) NULL LCT 3938 genome.wustl.edu 37 2 136558187 136558187 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002299.2 -1 reviewed p.R1619I 0.996 111 0.9% 201 33.8% 0 - possibly_damaging(0.928) deleterious(0.03) deleterious(0.740) HMMPfam_Glyco_hydro_1,superfamily_Glyco_hydro_cat LCT 3938 genome.wustl.edu 37 2 136570187 136570187 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002299.2 -1 reviewed p.L683M 1.000 127 0% 216 27.8% 0 - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_Glyco_hydro_1,superfamily_Glyco_hydro_cat MCM6 4175 genome.wustl.edu 37 2 136630272 136630272 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005915.4 -1 reviewed p.F83L 1.000 201 0% 342 24.3% 14 35.7% benign(0.085) deleterious(0) neutral(0.451) superfamily_Nucleic acid-binding proteins THSD7B 80731 genome.wustl.edu 37 2 137814622 137814622 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080427.1 +1 provisional p.E227* 0.991 128 0% 183 31.7% 0 - - - - NULL THSD7B 80731 genome.wustl.edu 37 2 138208587 138208587 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080427.1 +1 provisional p.K1013N 1.000 164 0% 178 32% 0 - probably_damaging(0.998) tolerated(0.31) deleterious(0.501) HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat LOC440917 440917 genome.wustl.edu 37 2 139046423 139046423 + RNA SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XR_041289.2 -1 model NULL 0.268 54 0% 58 37.9% 0 - - - - - SPOPL 339745 genome.wustl.edu 37 2 139316680 139316680 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001001664.2 +1 validated p.L190S 1.000 194 0% 189 34.9% 3 33.3% probably_damaging(0.997) deleterious(0) deleterious(0.911) superfamily_BTB/POZ_fold,HMMPfam_BTB LRP1B 53353 genome.wustl.edu 37 2 141081479 141081479 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018557.2 -1 validated p.R4166H 1.000 102 0% 54 31.5% 0 - probably_damaging(0.957) tolerated(0.07) deleterious(0.720) superfamily_SSF63825 LRP1B 53353 genome.wustl.edu 37 2 141116421 141116421 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018557.2 -1 validated p.C3742 0.996 283 0% 98 36.7% 0 - - - - HMMSmart_LDLa,PatternScan_LDLRA_1,superfamily_LDL_rcpt_classA_cys-rich LRP1B 53353 genome.wustl.edu 37 2 141116470 141116470 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018557.2 -1 validated p.N3726T 1.000 278 0% 80 28.7% 0 - benign(0.11) tolerated(0.13) neutral(0.261) HMMSmart_LDLa,superfamily_LDL_rcpt_classA_cys-rich LRP1B 53353 genome.wustl.edu 37 2 141128794 141128794 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018557.2 -1 validated p.S3610Y 1.000 87 0% 26 34.6% 0 - probably_damaging(0.961) tolerated(0.05) deleterious(0.750) HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,superfamily_LDL_rcpt_classA_cys-rich LRP1B 53353 genome.wustl.edu 37 2 141130642 141130642 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018557.2 -1 validated p.A3568E 0.768 414 0% 305 33.4% 0 - benign(0.15) tolerated(1) neutral(0.013) HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,superfamily_LDL_rcpt_classA_cys-rich LRP1B 53353 genome.wustl.edu 37 2 141135856 141135856 + Splice_Site SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018557.2 -1 validated e68-1 1.000 175 0% 193 32.1% 0 - - - - - LRP1B 53353 genome.wustl.edu 37 2 141201978 141201978 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018557.2 -1 validated p.K3405N 1.000 420 0% 417 29.3% 0 - possibly_damaging(0.929) tolerated(1) neutral(0.376) HMMPfam_Ldl_recept_a,HMMSmart_LDLa,superfamily_LDL_rcpt_classA_cys-rich LRP1B 53353 genome.wustl.edu 37 2 141242976 141242976 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018557.2 -1 validated p.P3121S 1.000 291 0% 258 27.5% 0 - probably_damaging(0.998) tolerated(0.13) deleterious(0.727) HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825 LRP1B 53353 genome.wustl.edu 37 2 141283535 141283535 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018557.2 -1 validated p.K2635T 1.000 212 0% 107 36.4% 0 - possibly_damaging(0.829) tolerated(0.17) neutral(0.373) superfamily_LDL_rcpt_classA_cys-rich,superfamily_SSF63825 LRP1B 53353 genome.wustl.edu 37 2 141571368 141571368 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018557.2 -1 validated p.S1739 0.019 264 0% 210 29% 0 - - - - HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825 LRP1B 53353 genome.wustl.edu 37 2 141625667 141625667 + Splice_Site SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018557.2 -1 validated e26+1 1.000 104 0% 47 38.3% 0 - - - - - LRP1B 53353 genome.wustl.edu 37 2 141739771 141739771 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018557.2 -1 validated p.E949K 1.000 159 0% 87 27.6% 0 - possibly_damaging(0.748) deleterious(0.04) deleterious(0.623) HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,superfamily_LDL_rcpt_classA_cys-rich LRP1B 53353 genome.wustl.edu 37 2 141806573 141806573 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018557.2 -1 validated p.E591* 1.000 267 0% 203 27.6% 0 - - - - HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825 LRP1B 53353 genome.wustl.edu 37 2 141819774 141819774 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018557.2 -1 validated p.R361Q 1.000 209 0% 73 35.6% 0 - probably_damaging(0.999) tolerated(0.06) deleterious(0.813) HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825 LRP1B 53353 genome.wustl.edu 37 2 142238077 142238077 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018557.2 -1 validated p.C77 0.999 124 0% 140 30.7% 0 - - - - HMMPfam_Ldl_recept_a,HMMSmart_LDLa,superfamily_LDL_rcpt_classA_cys-rich KYNU 8942 genome.wustl.edu 37 2 143712389 143712389 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003937.2 +1 reviewed p.E128D 0.769 199 0% 183 29.5% 3 0% benign(0) tolerated(0.17) neutral(0.059) HMMPfam_Aminotran_5,superfamily_PLP-dependent transferases KYNU 8942 genome.wustl.edu 37 2 143799614 143799614 + Splice_Site SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003937.2 +1 reviewed e13-2 0.992 223 0% 140 32.1% 1 0% - - - - ARHGAP15 55843 genome.wustl.edu 37 2 143959745 143959745 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018460.3 +1 validated p.D70Y 0.999 206 0% 95 35.8% 0 - possibly_damaging(0.822) deleterious(0.03) deleterious(0.675) NULL ARHGAP15 55843 genome.wustl.edu 37 2 144194600 144194600 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018460.3 +1 validated p.R231I 1.000 118 0% 127 33.9% 1 0% probably_damaging(0.996) tolerated(0.09) deleterious(0.758) NULL ARHGAP15 55843 genome.wustl.edu 37 2 144245038 144245038 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018460.3 +1 validated p.T267N 1.000 111 0% 106 28.3% 1 0% probably_damaging(0.969) deleterious(0.03) deleterious(0.776) NULL ZEB2 9839 genome.wustl.edu 37 2 145161573 145161573 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014795.3 -1 reviewed p.E239D 1.000 326 0% 429 38% 2 0% benign(0.004) tolerated(0.59) neutral(0.004) superfamily_SSF57667 MBD5 55777 genome.wustl.edu 37 2 149227081 149227081 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018328.4 +1 reviewed p.N523K 1.000 125 0% 134 34.3% 4 25% possibly_damaging(0.873) tolerated(0.17) neutral(0.398) NULL MBD5 55777 genome.wustl.edu 37 2 149241079 149241079 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000416015 +1 known p.P713Q 1.000 51 0% 82 40.2% 0 - - - - NULL KIF5C 3800 genome.wustl.edu 37 2 149806436 149806436 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000435030 +1 known p.I266 1.000 221 0% 386 35% 1 0% - - - HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases KIF5C 3800 genome.wustl.edu 37 2 149837968 149837968 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000435030 +1 known p.L488I 1.000 126 0% 143 37.8% 1 100% probably_damaging(1) tolerated(0.06) deleterious(0.823) NULL LYPD6B 130576 genome.wustl.edu 37 2 150061778 150061778 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_177964.3 +1 provisional p.S30L 0.002 86 0% 101 32.7% 18 27.7% benign(0.429) deleterious(0) deleterious(0.584) NULL RND3 390 genome.wustl.edu 37 2 151343888 151343888 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005168.3 -1 validated p.I15S 1.000 278 0% 306 37.9% 30 60% benign(0.001) tolerated(0.26) neutral(0.034) NULL RBM43 375287 genome.wustl.edu 37 2 152108066 152108066 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198557.2 -1 validated p.P143H 0.000 113 0% 106 23.6% 1 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL RBM43 375287 genome.wustl.edu 37 2 152112107 152112107 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198557.2 -1 validated p.D52Y 0.332 168 0% 257 31.5% 4 25% probably_damaging(0.959) deleterious(0.02) deleterious(0.786) NULL TNFAIP6 7130 genome.wustl.edu 37 2 152222632 152222632 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007115.2 +1 reviewed p.P99T 1.000 194 0% 362 32.6% 0 - benign(0.066) deleterious(0) neutral(0.449) HMMPfam_Xlink,HMMSmart_SM00445,PatternScan_LINK_1,superfamily_C-type lectin-like RIF1 55183 genome.wustl.edu 37 2 152293377 152293377 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018151.4 +1 reviewed p.R411Q 0.993 66 0% 96 34.4% 1 100% unknown(0) - - superfamily_ARM repeat RIF1 55183 genome.wustl.edu 37 2 152314404 152314404 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018151.4 +1 reviewed p.R928* 0.994 152 0% 222 27.5% 2 50% - - - superfamily_ARM repeat RIF1 55183 genome.wustl.edu 37 2 152317790 152317790 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018151.4 +1 reviewed p.L1072F 1.000 81 0% 116 26.7% 3 66.6% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) superfamily_ARM repeat NEB 4703 genome.wustl.edu 37 2 152364621 152364621 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004543.4 -1 reviewed p.K6082N 1.000 339 0% 382 37.4% 3 33.3% probably_damaging(1) - - HMMPfam_Nebulin,HMMSmart_SM00227 NEB 4703 genome.wustl.edu 37 2 152422031 152422031 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004543.4 -1 reviewed p.S4416Y 1.000 206 0% 212 32.1% 0 - possibly_damaging(0.904) deleterious(0.01) deleterious(0.764) HMMPfam_Nebulin,HMMSmart_SM00227 NEB 4703 genome.wustl.edu 37 2 152426677 152426677 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004543.4 -1 reviewed p.R4082H 0.998 113 0% 151 39.1% 0 - benign(0.02) deleterious(0.01) neutral(0.407) HMMSmart_SM00227 NEB 4703 genome.wustl.edu 37 2 152466346 152466346 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004543.4 -1 reviewed p.K3860Q 1.000 265 0% 420 30.2% 0 - probably_damaging(0.999) deleterious(0.05) deleterious(0.836) HMMPfam_Nebulin,HMMSmart_SM00227 NEB 4703 genome.wustl.edu 37 2 152470976 152470976 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004543.4 -1 reviewed p.K3562N 1.000 344 0% 433 30.5% 0 - probably_damaging(0.99) deleterious(0.01) deleterious(0.847) HMMPfam_Nebulin,HMMSmart_SM00227 NEB 4703 genome.wustl.edu 37 2 152487301 152487301 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004543.4 -1 reviewed p.K2974N 1.000 373 0% 497 32.6% 1 0% probably_damaging(1) tolerated(0.16) deleterious(0.559) HMMPfam_Nebulin NEB 4703 genome.wustl.edu 37 2 152573988 152573988 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004543.4 -1 reviewed p.P255H 0.867 349 0% 501 37.1% 0 - benign(0.204) tolerated(0.17) neutral(0.079) HMMSmart_SM00227 NEB 4703 genome.wustl.edu 37 2 152581465 152581465 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004543.4 -1 reviewed p.R138Q 1.000 314 0% 450 35.3% 0 - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMPfam_Nebulin,HMMSmart_SM00227 NEB 4703 genome.wustl.edu 37 2 152582002 152582002 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004543.4 -1 reviewed p.R123C 1.000 417 0% 434 27.9% 0 - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMPfam_Nebulin,HMMSmart_SM00227 CACNB4 785 genome.wustl.edu 37 2 152739812 152739812 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000726.3 -1 reviewed p.R74* 1.000 215 0% 283 29.3% 0 - - - - superfamily_SH3-domain STAM2 10254 genome.wustl.edu 37 2 152980450 152980450 + Splice_Site SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005843.4 -1 reviewed e13-1 1.000 99 0% 149 30.9% 2 50% - - - - FMNL2 114793 genome.wustl.edu 37 2 153415314 153415314 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_052905.3 +1 reviewed p.L140 0.999 355 0% 363 34.7% 4 25% - - - HMMPfam_Drf_GBD GALNT13 114805 genome.wustl.edu 37 2 155099346 155099346 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_052917.2 +1 validated p.T205N 1.000 110 0% 125 31.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases GALNT13 114805 genome.wustl.edu 37 2 155306972 155306972 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_052917.2 +1 validated p.S527F 1.000 96 1% 75 30.7% 1 0% benign(0.051) deleterious(0.04) neutral(0.352) HMMPfam_Ricin_B_lectin,HMMSmart_SM00458,superfamily_Ricin B-like lectins KCNJ3 3760 genome.wustl.edu 37 2 155711283 155711283 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002239.2 +1 reviewed p.L322I 1.000 324 0% 296 33.1% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_IRK,superfamily_Ig_E-set GALNT5 11227 genome.wustl.edu 37 2 158167726 158167726 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014568.1 +1 provisional p.H897N 1.000 150 0% 96 21.9% 1 0% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) HMMPfam_Ricin_B_lectin,HMMSmart_SM00458,superfamily_Ricin B-like lectins CYTIP 9595 genome.wustl.edu 37 2 158272657 158272657 + Splice_Site SNP T T C rs113391601 TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004288.4 -1 reviewed e8-2 0.961 46 0% 59 30.5% 0 - - - - - PKP4 8502 genome.wustl.edu 37 2 159481878 159481878 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003628.3 +1 reviewed p.F364 0.104 46 0% 47 44.7% 30 33.3% - - - NULL PKP4 8502 genome.wustl.edu 37 2 159499179 159499179 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003628.3 +1 reviewed p.S626Y 1.000 342 0% 523 29.3% 24 66.6% possibly_damaging(0.807) deleterious(0) deleterious(0.748) HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat WDSUB1 151525 genome.wustl.edu 37 2 160104948 160104948 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001128212.1 -1 validated p.G403E 0.995 188 0% 181 29.8% 7 42.8% benign(0.007) tolerated(0.74) neutral(0.002) HMMPfam_U-box,superfamily_RING/U-box WDSUB1 151525 genome.wustl.edu 37 2 160112711 160112711 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001128212.1 -1 validated p.K376N 1.000 137 0% 220 38.2% 13 15.3% possibly_damaging(0.845) tolerated(0.42) neutral(0.338) HMMSmart_SM00454,superfamily_SAM/Pointed domain,HMMPfam_SAM_2 BAZ2B 29994 genome.wustl.edu 37 2 160303361 160303361 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013450.2 -1 validated p.R210* 1.000 337 0% 381 28.9% 1 100% - - - NULL CD302 9936 genome.wustl.edu 37 2 160639880 160639880 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014880.4 -1 validated p.C56 1.000 239 0% 300 33% 0 - - - - HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like LY75 4065 genome.wustl.edu 37 2 160673451 160673451 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002349.2 -1 validated p.Y1416H 1.000 239 0% 342 39.2% 2 50% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like LY75 4065 genome.wustl.edu 37 2 160692081 160692081 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002349.2 -1 validated p.E1195K 0.999 103 0% 127 27.6% 2 0% probably_damaging(0.975) tolerated(0.2) neutral(0.466) HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like LY75 4065 genome.wustl.edu 37 2 160742952 160742952 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002349.2 -1 validated p.N298H 0.951 280 0% 157 29.9% 1 0% probably_damaging(0.96) tolerated(0.05) deleterious(0.748) HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like PLA2R1 22925 genome.wustl.edu 37 2 160898585 160898585 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007366.3 -1 validated p.T206 0.049 89 0% 63 38.1% 1 0% - - - HMMPfam_fn2,HMMSmart_SM00059,PatternScan_FN2_1,superfamily_Kringle-like ITGB6 3694 genome.wustl.edu 37 2 161052820 161052820 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000888.3 -1 provisional p.L85I 1.000 250 0% 307 28.7% 2 0% possibly_damaging(0.799) tolerated(0.26) neutral(0.335) HMMPfam_Integrin_beta,HMMSmart_SM00187,superfamily_Integrin domains RBMS1 5937 genome.wustl.edu 37 2 161132196 161132196 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016836.3 -1 reviewed p.V391 0.660 101 0% 98 24.5% 20 45% - - - NULL TANK 10010 genome.wustl.edu 37 2 162081157 162081157 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004180.2 +1 reviewed p.K140N 1.000 53 0% 59 27.1% 16 50% probably_damaging(0.999) tolerated(0.08) deleterious(0.790) NULL TANK 10010 genome.wustl.edu 37 2 162087884 162087884 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004180.2 +1 reviewed p.K308T 1.000 131 0% 199 28.1% 30 33.3% probably_damaging(0.998) tolerated(0.08) deleterious(0.774) NULL TBR1 10716 genome.wustl.edu 37 2 162273064 162273064 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006593.2 +1 reviewed p.R48I 1.000 100 0% 113 35.4% 0 - possibly_damaging(0.922) deleterious(0.03) deleterious(0.736) NULL SLC4A10 57282 genome.wustl.edu 37 2 162760636 162760636 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022058.3 +1 reviewed p.S492Y 1.000 196 0% 261 33.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_HCO3_cotransp SLC4A10 57282 genome.wustl.edu 37 2 162762267 162762267 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022058.3 +1 reviewed p.F593L 1.000 347 0% 430 29.8% 0 - benign(0.093) deleterious(0) neutral(0.452) HMMPfam_HCO3_cotransp DPP4 1803 genome.wustl.edu 37 2 162881402 162881402 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001935.3 -1 reviewed p.S312Y 0.421 163 0% 172 32.6% 0 - benign(0.104) tolerated(0.22) neutral(0.050) HMMPfam_DPPIV_N,superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain DPP4 1803 genome.wustl.edu 37 2 162903283 162903283 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000413651 -1 known p.L106F 1.000 30 0% 30 43.3% 0 - benign(0.359) - - NULL FAP 2191 genome.wustl.edu 37 2 163070503 163070503 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004460.2 -1 reviewed p.S316L 0.966 169 0% 186 30.1% 27 0% benign(0.028) tolerated(0.07) neutral(0.321) HMMPfam_DPPIV_N,superfamily_SSF82171 FAP 2191 genome.wustl.edu 37 2 163080149 163080149 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004460.2 -1 reviewed p.A128T 1.000 223 0% 164 26.2% 8 0% probably_damaging(0.965) deleterious(0) deleterious(0.851) HMMPfam_DPPIV_N,superfamily_SSF82171 KCNH7 90134 genome.wustl.edu 37 2 163228387 163228387 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033272.2 -1 reviewed p.I1181 1.000 137 0% 126 33.3% 0 - - - - NULL KCNH7 90134 genome.wustl.edu 37 2 163374315 163374315 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033272.2 -1 reviewed p.A273T 1.000 199 0% 117 28.2% 0 - possibly_damaging(0.694) deleterious(0.01) deleterious(0.655) NULL GRB14 2888 genome.wustl.edu 37 2 165365355 165365355 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004490.2 -1 reviewed p.R275Q 1.000 187 0% 168 33.3% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 COBLL1 22837 genome.wustl.edu 37 2 165552101 165552101 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014900.3 -1 validated p.D639Y 1.000 409 0% 361 29.9% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL COBLL1 22837 genome.wustl.edu 37 2 165557184 165557184 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014900.3 -1 validated p.N475K 0.926 313 0% 245 33.9% 2 100% possibly_damaging(0.647) deleterious(0.02) deleterious(0.610) NULL SLC38A11 151258 genome.wustl.edu 37 2 165809238 165809238 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173512.1 -1 provisional p.F14L 1.000 136 0% 122 28.7% 0 - benign(0) tolerated(0.21) neutral(0.044) NULL SCN3A 6328 genome.wustl.edu 37 2 165947050 165947050 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006922.3 -1 reviewed p.R1871 1.000 191 0% 166 28.9% 0 - - - - NULL SCN3A 6328 genome.wustl.edu 37 2 165987767 165987767 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006922.3 -1 reviewed p.R851Q 1.000 101 0% 86 29.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_SSF81324 SCN2A 6326 genome.wustl.edu 37 2 166165764 166165764 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001040143.1 +1 reviewed p.P232L 1.000 267 0% 166 19.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_SSF81324 SCN2A 6326 genome.wustl.edu 37 2 166210789 166210789 + Missense_Mutation SNP C C A rs121917754 TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001040142.1 +1 reviewed p.L1003I 1.000 156 0% 149 34.9% 0 - possibly_damaging(0.856) tolerated(0.4) neutral(0.347) HMMPfam_Na_trans_assoc,superfamily_Voltage-gated potassium channels SCN2A 6326 genome.wustl.edu 37 2 166231200 166231200 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001040142.1 +1 reviewed p.V1326 0.998 301 0% 189 30.7% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN2A 6326 genome.wustl.edu 37 2 166245895 166245895 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001040142.1 +1 reviewed p.A1860V 1.000 222 0% 202 27.7% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CSRNP3 80034 genome.wustl.edu 37 2 166451723 166451723 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024969.3 +1 validated p.P50S 1.000 177 0% 226 30.5% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL CSRNP3 80034 genome.wustl.edu 37 2 166514311 166514311 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024969.3 +1 validated p.K63N 1.000 124 0% 143 34.3% 0 - probably_damaging(0.995) tolerated(0.11) deleterious(0.729) NULL SCN1A 6323 genome.wustl.edu 37 2 166850897 166850897 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006920.4 -1 reviewed p.F1526 0.998 163 0% 110 32.7% 0 - - - - superfamily_SSF81324 SCN1A 6323 genome.wustl.edu 37 2 166850906 166850906 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006920.4 -1 reviewed p.V1523 1.000 152 0% 97 28.9% 0 - - - - superfamily_SSF81324 SCN1A 6323 genome.wustl.edu 37 2 166903433 166903433 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006920.4 -1 reviewed p.F408L 1.000 247 0% 187 32.6% 0 - possibly_damaging(0.882) deleterious(0.03) deleterious(0.709) HMMPfam_Ion_trans,superfamily_SSF81324 SCN9A 6335 genome.wustl.edu 37 2 167089934 167089934 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002977.3 -1 reviewed p.Y1269* 1.000 127 0% 130 27.7% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN9A 6335 genome.wustl.edu 37 2 167129234 167129234 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002977.3 -1 reviewed p.F998C 0.018 266 0% 141 51.8% 0 - benign(0.051) tolerated(0.21) neutral(0.047) HMMPfam_Na_trans_assoc SCN9A 6335 genome.wustl.edu 37 2 167137047 167137047 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002977.3 -1 reviewed p.F710L 1.000 125 0% 116 30.2% 0 - possibly_damaging(0.76) deleterious(0.04) deleterious(0.630) superfamily_Voltage-gated potassium channels SCN7A 6332 genome.wustl.edu 37 2 167262427 167262427 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002976.2 -1 validated p.R1571I 1.000 126 0% 68 26.5% 0 - probably_damaging(0.996) deleterious(0.02) deleterious(0.845) NULL XIRP2 129446 genome.wustl.edu 37 2 168099825 168099825 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152381.4 +1 validated p.E641 0.771 95 1.1% 73 39.7% 0 - - - - NULL XIRP2 129446 genome.wustl.edu 37 2 168100484 168100484 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152381.4 +1 validated p.S861F 0.001 86 0% 81 27.2% 0 - benign(0.146) tolerated(0.24) neutral(0.050) NULL XIRP2 129446 genome.wustl.edu 37 2 168105202 168105202 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152381.4 +1 validated p.K2434Q 0.000 119 0% 71 29.6% 0 - benign(0.071) deleterious(0.03) neutral(0.369) NULL XIRP2 129446 genome.wustl.edu 37 2 168105310 168105310 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152381.4 +1 validated p.T2470A 0.000 129 0% 77 39% 0 - benign(0.004) tolerated(0.44) neutral(0.013) NULL XIRP2 129446 genome.wustl.edu 37 2 168115363 168115363 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001079810.2 +1 validated p.K769N 0.956 69 1.4% 10 60% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL B3GALT1 8708 genome.wustl.edu 37 2 168725861 168725861 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020981.2 +1 reviewed p.E104D 1.000 67 0% 113 31% 2 50% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_Galactosyl_T B3GALT1 8708 genome.wustl.edu 37 2 168726058 168726058 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020981.2 +1 reviewed p.A170V 1.000 171 0% 267 30.7% 0 - possibly_damaging(0.854) tolerated(0.12) deleterious(0.590) HMMPfam_Galactosyl_T B3GALT1 8708 genome.wustl.edu 37 2 168726254 168726254 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020981.2 +1 reviewed p.F235L 1.000 159 0% 194 37.6% 0 - probably_damaging(0.979) deleterious(0.01) deleterious(0.828) HMMPfam_Galactosyl_T STK39 27347 genome.wustl.edu 37 2 168821210 168821210 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013233.2 -1 reviewed p.D509Y 1.000 345 0% 249 32.5% 20 15% possibly_damaging(0.952) deleterious(0.01) deleterious(0.801) NULL G6PC2 57818 genome.wustl.edu 37 2 169764326 169764326 + Missense_Mutation SNP T T A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021176.2 +1 reviewed p.L269M 1.000 163 0% 218 34.4% 0 - probably_damaging(0.996) tolerated(0.09) deleterious(0.758) NULL G6PC2 57818 genome.wustl.edu 37 2 169764492 169764492 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021176.2 +1 reviewed p.S324Y 1.000 313 0% 365 32.9% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL ABCB11 8647 genome.wustl.edu 37 2 169826640 169826640 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003742.2 -1 reviewed p.R575Q 1.000 276 0.4% 188 33.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases DHRS9 10170 genome.wustl.edu 37 2 169938231 169938231 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142270.1 +1 validated p.R47I 0.034 158 0% 184 37% 0 - possibly_damaging(0.609) deleterious(0.02) deleterious(0.594) HMMPfam_adh_short,superfamily_NAD(P)-binding Rossmann-fold domains DHRS9 10170 genome.wustl.edu 37 2 169952140 169952140 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142270.1 +1 validated p.L275I 1.000 120 0% 114 28.9% 4 0% benign(0.024) tolerated(0.37) neutral(0.020) superfamily_NAD(P)-binding Rossmann-fold domains LRP2 4036 genome.wustl.edu 37 2 170013915 170013915 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004525.2 -1 reviewed p.F3995 0.844 367 0.5% 230 33.5% 0 - - - - HMMSmart_EGF LRP2 4036 genome.wustl.edu 37 2 170019045 170019045 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004525.2 -1 reviewed p.P3942S 0.974 193 0% 181 32.6% 0 - benign(0.004) tolerated(0.57) neutral(0.006) HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,superfamily_LDL_rcpt_classA_cys-rich LRP2 4036 genome.wustl.edu 37 2 170030452 170030452 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004525.2 -1 reviewed p.S3664L 1.000 115 0% 156 40.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,superfamily_LDL_rcpt_classA_cys-rich LRP2 4036 genome.wustl.edu 37 2 170062653 170062653 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004525.2 -1 reviewed p.R2479I 1.000 188 0% 181 32.6% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825 LRP2 4036 genome.wustl.edu 37 2 170062935 170062935 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004525.2 -1 reviewed p.R2432I 1.000 160 0% 207 35.7% 0 - benign(0.106) deleterious(0) neutral(0.453) HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825 LRP2 4036 genome.wustl.edu 37 2 170081939 170081939 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004525.2 -1 reviewed p.D1807N 1.000 167 0% 146 30.8% 0 - benign(0.084) tolerated(1) neutral(0.006) HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825 LRP2 4036 genome.wustl.edu 37 2 170090074 170090074 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004525.2 -1 reviewed p.T1649P 0.973 76 0% 80 33.8% 0 - possibly_damaging(0.885) deleterious(0.01) deleterious(0.752) HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825 LRP2 4036 genome.wustl.edu 37 2 170113706 170113706 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004525.2 -1 reviewed p.S856N 0.869 127 0% 115 28.7% 1 100% possibly_damaging(0.455) tolerated(0.22) neutral(0.191) HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825 PPIG 9360 genome.wustl.edu 37 2 170460756 170460756 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004792.2 +1 validated p.R41C 1.000 276 0% 480 30.4% 16 43.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pro_isomerase,superfamily_Cyclophilin-like METTL5 29081 genome.wustl.edu 37 2 170668960 170668960 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000410097 -1 known p.L200I 0.356 231 0% 318 29.2% 2 50% benign(0) tolerated(1) - NULL UBR3 130507 genome.wustl.edu 37 2 170785318 170785318 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_172070.3 +1 validated p.F836V 1.000 204 0% 271 35.4% 2 0% probably_damaging(0.974) deleterious(0) deleterious(0.861) NULL UBR3 130507 genome.wustl.edu 37 2 170917894 170917894 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_172070.3 +1 validated p.L1654I 1.000 299 0% 328 38.7% 12 41.6% probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL MYO3B 140469 genome.wustl.edu 37 2 171056672 171056672 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138995.3 +1 validated p.E67* 1.000 151 0% 148 35.1% 0 - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase MYO3B 140469 genome.wustl.edu 37 2 171243639 171243639 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138995.3 +1 validated p.E466D 1.000 118 0% 102 29.4% 1 100% benign(0.011) tolerated(0.3) neutral(0.029) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO3B 140469 genome.wustl.edu 37 2 171508168 171508168 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138995.3 +1 validated p.R1255Q 1.000 58 0% 108 26.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL GORASP2 26003 genome.wustl.edu 37 2 171813025 171813025 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015530.3 +1 reviewed p.S260Y 1.000 182 0% 191 34% 136 40.4% possibly_damaging(0.775) deleterious(0.01) deleterious(0.694) HMMPfam_GRASP55_65 TLK1 9874 genome.wustl.edu 37 2 171862725 171862725 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012290.4 -1 validated p.K612N 1.000 191 0% 217 26.3% 11 72.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase TLK1 9874 genome.wustl.edu 37 2 171911592 171911592 + Splice_Site SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012290.4 -1 validated e7+1 1.000 86 0% 73 15.1% 0 - - - - - TLK1 9874 genome.wustl.edu 37 2 171939299 171939299 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012290.4 -1 validated p.E108* 1.000 178 0% 140 29.3% 9 33.3% - - - NULL SLC25A12 8604 genome.wustl.edu 37 2 172749752 172749752 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003705.3 -1 reviewed p.R10Q 1.000 158 0% 308 31.8% 0 - probably_damaging(0.998) tolerated(0.18) deleterious(0.530) NULL RAPGEF4 11069 genome.wustl.edu 37 2 173891895 173891895 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007023.3 +1 validated p.E822D 1.000 141 0.7% 108 30.6% 0 - probably_damaging(0.981) deleterious(0.01) deleterious(0.831) HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_Ras GEF ZAK 51776 genome.wustl.edu 37 2 174096922 174096922 + Nonsense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016653.2 +1 reviewed p.Y345* 0.998 311 0% 474 26.8% 0 - - - - HMMSmart_SM00454,superfamily_SAM/Pointed domain CDCA7 83879 genome.wustl.edu 37 2 174224139 174224139 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031942.4 +1 reviewed p.E102K 1.000 176 0% 218 33.5% 0 - probably_damaging(0.978) deleterious(0.01) deleterious(0.826) NULL CDCA7 83879 genome.wustl.edu 37 2 174231117 174231117 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031942.4 +1 reviewed p.R381L 1.000 137 0% 213 27.2% 8 25% probably_damaging(0.991) tolerated(0.1) deleterious(0.730) HMMPfam_zf-4CXXC_R1 SP3 6670 genome.wustl.edu 37 2 174783367 174783367 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003111.4 -1 reviewed p.R596W 1.000 236 0% 254 23.6% 23 34.7% probably_damaging(1) deleterious(0) deleterious(0.945) NULL OLA1 29789 genome.wustl.edu 37 2 174940227 174940227 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000428402 -1 known p.E253* 1.000 238 0% 159 26.4% 70 38.5% - - - NULL SCRN3 79634 genome.wustl.edu 37 2 175263159 175263159 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024583.3 +1 validated p.E50* 0.964 162 0% 199 32.2% 5 20% - - - NULL GPR155 151556 genome.wustl.edu 37 2 175333657 175333657 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001033045.2 -1 validated p.V389I 1.000 85 0% 184 25.5% 3 66.6% benign(0.001) tolerated(0.64) neutral(0.003) NULL GPR155 151556 genome.wustl.edu 37 2 175338026 175338026 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001033045.2 -1 validated p.S176Y 1.000 53 0% 63 30.2% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Mem_trans LOC100133109 100133109 genome.wustl.edu 37 2 175584661 175584661 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_001716442.2 -1 model p.A106V 1.000 45 0% 69 20.3% 223 0% - - - NULL CHRNA1 1134 genome.wustl.edu 37 2 175624104 175624104 + Splice_Site SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001039523.2 -1 reviewed e3-1 1.000 158 0% 231 31.2% 0 - - - - - ATF2 1386 genome.wustl.edu 37 2 175983056 175983056 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001880.2 -1 reviewed p.E81* 1.000 361 0% 211 31.3% 4 50% - - - NULL HOXD13 3239 genome.wustl.edu 37 2 176958196 176958196 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000523.3 +1 reviewed p.Y193C 1.000 31 0% 29 31% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL HOXD13 3239 genome.wustl.edu 37 2 176959294 176959294 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000523.3 +1 reviewed p.E290* 1.000 228 0% 385 25.5% 0 - - - - HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like HOXD3 3232 genome.wustl.edu 37 2 177036440 177036440 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006898.4 +1 reviewed p.R246H 1.000 82 0% 73 30.1% 3 0% unknown(0) deleterious(0) - HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like,PatternScan_HOMEOBOX_1 TTC30B 150737 genome.wustl.edu 37 2 178415764 178415764 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152517.2 -1 validated p.K576 1.000 263 0% 334 35.6% 6 66.6% - - - NULL TTC30A 92104 genome.wustl.edu 37 2 178482113 178482113 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152275.3 -1 validated p.N439K 1.000 201 0% 297 33% 0 - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMSmart_TPR,superfamily_SSF48452 PDE11A 50940 genome.wustl.edu 37 2 178705099 178705099 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016953.3 -1 reviewed p.S460N 1.000 181 0% 287 27.5% 0 - benign(0.338) tolerated(0.53) neutral(0.114) HMMPfam_GAF,HMMSmart_SM00065,superfamily_GAF domain-like RBM45 129831 genome.wustl.edu 37 2 178977469 178977469 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152945.2 +1 provisional p.K66E 1.000 33 0% 44 31.8% 5 60% probably_damaging(0.988) deleterious(0.01) deleterious(0.843) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD OSBPL6 114880 genome.wustl.edu 37 2 179259128 179259128 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145739.1 +1 reviewed p.E892* 1.000 105 0% 117 19.7% 0 - - - - HMMPfam_Oxysterol_BP TTN 7273 genome.wustl.edu 37 2 179396826 179396826 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000356127 -1 known p.R32269Q 1.000 235 0% 338 34% 0 - possibly_damaging(0.948) - - NULL TTN 7273 genome.wustl.edu 37 2 179396966 179396966 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_133378.4 -1 reviewed p.S32224* 1.000 423 0.5% 584 32% 0 - benign(0.002) - - NULL TTN 7273 genome.wustl.edu 37 2 179412219 179412219 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000356127 -1 known p.E28808D 1.000 118 0% 93 37.6% 0 - probably_damaging(0.971) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179417092 179417092 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000356127 -1 known p.R27609C 1.000 263 0% 220 29.5% 0 - probably_damaging(0.999) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179418892 179418892 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_133378.4 -1 reviewed p.R27081* 1.000 259 0% 194 38.1% 0 - probably_damaging(0.998) - - NULL TTN 7273 genome.wustl.edu 37 2 179428258 179428258 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000356127 -1 known p.L24964R 1.000 81 0% 111 26.1% 0 - probably_damaging(0.998) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179428758 179428758 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_133378.4 -1 reviewed p.L24799S 1.000 106 0% 101 40.6% 0 - - - - NULL TTN 7273 genome.wustl.edu 37 2 179428917 179428917 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_133378.4 -1 reviewed p.K24746R 0.990 131 0% 100 28% 0 - - - - NULL TTN 7273 genome.wustl.edu 37 2 179431879 179431879 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000356127 -1 known p.R23757Q 1.000 99 0% 100 28% 0 - possibly_damaging(0.939) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179433514 179433514 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000356127 -1 known p.P23212H 1.000 166 0% 164 39.6% 0 - possibly_damaging(0.594) - - HMMPfam_fn3 TTN 7273 genome.wustl.edu 37 2 179434701 179434701 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_133378.4 -1 reviewed p.D22818G 0.769 334 0% 284 37% 0 - - - - NULL TTN 7273 genome.wustl.edu 37 2 179442498 179442498 + Silent SNP C C T rs187392843 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_133378.4 -1 reviewed p.R20317Q 0.041 256 0% 207 34.3% 2 0% - - - NULL TTN 7273 genome.wustl.edu 37 2 179442499 179442499 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_133378.4 -1 reviewed p.R20317* 0.258 254 0% 205 29.8% 2 100% benign(0.027) - - NULL TTN 7273 genome.wustl.edu 37 2 179448343 179448343 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000356127 -1 known p.A19286T 1.000 216 0% 157 24.2% 0 - possibly_damaging(0.662) - - NULL TTN 7273 genome.wustl.edu 37 2 179455098 179455098 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000356127 -1 known p.I17882V 1.000 262 0% 200 36% 0 - benign(0.014) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179457604 179457604 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000356127 -1 known p.R17178W 1.000 155 0% 142 36.6% 0 - possibly_damaging(0.944) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179459170 179459170 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000356127 -1 known p.E16781* 1.000 226 0% 172 34.9% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179462779 179462779 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000356127 -1 known p.D16470Y 1.000 408 0% 253 29.2% 0 - benign(0.014) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179485033 179485033 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000356127 -1 known p.F12837 0.952 146 0% 59 44.1% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179489372 179489372 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000356127 -1 known p.E12311* 1.000 129 0% 79 27.8% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179494033 179494033 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000356127 -1 known p.D12239N 1.000 255 0% 229 30.6% 0 - probably_damaging(0.965) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179500778 179500778 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000356127 -1 known p.N11272 0.592 141 0% 115 35.7% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig TTN 7273 genome.wustl.edu 37 2 179505269 179505269 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000356127 -1 known p.K11006N 1.000 388 0% 190 26.3% 0 - unknown(0) deleterious(0) - NULL TTN 7273 genome.wustl.edu 37 2 179516835 179516835 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000356127 -1 known p.P10661S 0.988 340 0% 235 30.6% 0 - unknown(0) - - NULL TTN 7273 genome.wustl.edu 37 2 179516907 179516907 + Splice_Site SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000356127 -1 known e157-1 1.000 316 0% 262 27.5% 0 - - - - - TTN 7273 genome.wustl.edu 37 2 179571204 179571204 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000356127 -1 known p.G8555 0.923 340 0% 331 32.3% 0 - - - - NULL TTN 7273 genome.wustl.edu 37 2 179585851 179585851 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000356127 -1 known p.I6388T 1.000 196 0% 136 33.1% 0 - unknown(0) - - HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179587193 179587193 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000356127 -1 known p.R6197* 0.996 63 0% 57 21.1% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179591885 179591885 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000356127 -1 known p.G5492E 1.000 113 0% 88 33% 0 - unknown(0) - - HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179593071 179593071 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000356127 -1 known p.L5250M 0.996 224 0% 148 25% 0 - unknown(0) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179593644 179593644 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000356127 -1 known p.R5130M 1.000 171 0% 124 33.9% 0 - unknown(0) - - HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179596658 179596658 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000356127 -1 known p.V4404 0.627 118 0% 109 37.6% 0 - - - - HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179598194 179598194 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000356127 -1 known p.D4032Y 1.000 255 0% 168 31.5% 0 - unknown(0) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179598490 179598490 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000356127 -1 known p.R3965I 0.996 239 0% 179 27.4% 0 - unknown(0) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179600292 179600292 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000356127 -1 known p.T3717A 1.000 117 0% 99 32.3% 0 - unknown(0) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179605112 179605112 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000342175 -1 known p.S4112Y 0.013 159 0% 152 30.3% 0 - possibly_damaging(0.741) - - NULL TTN 7273 genome.wustl.edu 37 2 179605649 179605649 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000342175 -1 known p.S3933N 0.881 210 0% 177 35% 0 - possibly_damaging(0.741) - - NULL TTN 7273 genome.wustl.edu 37 2 179613014 179613014 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_133379.3 -1 reviewed p.R4705 0.007 157 0.6% 62 30.6% 0 - - - - NULL TTN 7273 genome.wustl.edu 37 2 179614947 179614947 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_133379.3 -1 reviewed p.A4060 0.000 272 0% 136 33.8% 0 - - - - NULL TTN 7273 genome.wustl.edu 37 2 179616076 179616076 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_133379.3 -1 reviewed p.R3684I 0.713 248 0% 127 37.8% 0 - possibly_damaging(0.681) deleterious(0) deleterious(0.688) NULL TTN 7273 genome.wustl.edu 37 2 179616685 179616685 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_133379.3 -1 reviewed p.K3481T 0.492 91 0% 45 37.8% 0 - benign(0) tolerated(0.58) neutral(0.005) NULL TTN 7273 genome.wustl.edu 37 2 179638266 179638266 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_133379.3 -1 reviewed p.R2506Q 1.000 294 0% 217 33.6% 0 - benign(0.287) - - HMMSmart_IG,HMMPfam_I-set,superfamily_SSF48726 TTN 7273 genome.wustl.edu 37 2 179641893 179641893 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_133379.3 -1 reviewed p.H1599 0.995 296 0% 254 30.7% 0 - - - - HMMSmart_IG,HMMPfam_I-set,superfamily_SSF48726 TTN 7273 genome.wustl.edu 37 2 179655482 179655482 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_133379.3 -1 reviewed p.E585* 1.000 532 0% 498 33.9% 0 - - - - HMMPfam_Titin_Z CCDC141 285025 genome.wustl.edu 37 2 179701729 179701729 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173648.2 -1 provisional p.D831G 1.000 116 0% 153 34% 0 - benign(0) tolerated(1) - NULL CCDC141 285025 genome.wustl.edu 37 2 179710433 179710433 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173648.2 -1 provisional p.D557Y 0.808 281 0% 231 35.1% 0 - probably_damaging(0.977) deleterious(0.02) deleterious(0.802) NULL SESTD1 91404 genome.wustl.edu 37 2 179989108 179989108 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178123.4 -1 validated p.H384N 1.000 95 0% 126 34.1% 12 66.6% probably_damaging(0.995) tolerated(0.2) deleterious(0.507) NULL LOC100131482 100131482 genome.wustl.edu 37 2 180679307 180679307 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_001722616.1 +1 model p.E110D 1.000 135 0% 198 30.3% 0 - - - - HMMPfam_DIM1,superfamily_Thioredoxin-like ITGA4 3676 genome.wustl.edu 37 2 182376477 182376477 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000885.4 +1 reviewed p.V633I 0.930 315 0% 181 33.7% 0 - benign(0.014) tolerated(0.37) neutral(0.019) HMMPfam_Integrin_alpha2,superfamily_Integrin domains ITGA4 3676 genome.wustl.edu 37 2 182394329 182394329 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000885.4 +1 reviewed p.S831Y 1.000 200 0% 230 32.6% 1 0% probably_damaging(0.957) tolerated(0.06) deleterious(0.723) HMMPfam_Integrin_alpha2,superfamily_Integrin domains CERKL 375298 genome.wustl.edu 37 2 182468643 182468643 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001030311.2 -1 reviewed p.K134N 0.990 163 0% 197 33% 1 0% possibly_damaging(0.617) deleterious(0.01) deleterious(0.620) NULL NEUROD1 4760 genome.wustl.edu 37 2 182543324 182543324 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002500.2 -1 reviewed p.K88N 1.000 351 0% 467 31.3% 0 - possibly_damaging(0.794) deleterious(0) deleterious(0.742) NULL NEUROD1 4760 genome.wustl.edu 37 2 182543450 182543450 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002500.2 -1 reviewed p.M46I 1.000 366 0% 529 32.7% 0 - benign(0.002) tolerated(0.6) neutral(0.004) NULL PDE1A 5136 genome.wustl.edu 37 2 183053739 183053739 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005019.3 -1 validated p.R408W 1.000 188 0% 175 30.3% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PDEase_I,superfamily_SSF109604 PDE1A 5136 genome.wustl.edu 37 2 183387040 183387040 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005019.3 -1 validated p.E22* 1.000 245 0% 176 30.7% 0 - - - - NULL DNAJC10 54431 genome.wustl.edu 37 2 183601048 183601048 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018981.1 +1 provisional p.T308P 0.962 186 0% 196 37.2% 51 41.1% benign(0.039) tolerated(0.14) neutral(0.252) superfamily_Thioredoxin-like LOC100287864 100287864 genome.wustl.edu 37 2 183723507 183723507 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002342282.1 +1 model p.Y3H 0.396 164 0% 192 29.7% 0 - - - - NULL ZNF804A 91752 genome.wustl.edu 37 2 185800795 185800795 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_194250.1 +1 provisional p.V224 0.976 76 0% 91 42.9% 0 - - - - NULL ZNF804A 91752 genome.wustl.edu 37 2 185803517 185803517 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_194250.1 +1 provisional p.L1132I 1.000 360 0.3% 551 31.6% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL FSIP2 401024 genome.wustl.edu 37 2 186672816 186672816 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000424728 +1 known p.L6261F 1.000 46 0% 17 58.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL FSIP2 401024 genome.wustl.edu 37 2 186672850 186672850 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000424728 +1 known p.D6273Y 1.000 66 0% 25 24% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL FSIP2 401024 genome.wustl.edu 37 2 186697914 186697914 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000449112 +1 known p.F113S 0.000 165 0% 90 34.4% 0 - - - - NULL ITGAV 3685 genome.wustl.edu 37 2 187506230 187506230 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002210.3 +1 reviewed p.T358 0.000 143 0% 218 28.4% 6 33.3% - - - HMMSmart_SM00191,superfamily_Integrin alpha N-terminal domain DIRC1 116093 genome.wustl.edu 37 2 189599461 189599461 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_052952.2 -1 validated p.D63Y 0.001 294 0% 376 33% 0 - unknown(0) - - NULL COL5A2 1290 genome.wustl.edu 37 2 189916190 189916190 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000393.3 -1 reviewed p.A929 0.788 64 0% 73 41.1% 39 17.9% - - - HMMPfam_Collagen COL5A2 1290 genome.wustl.edu 37 2 189968994 189968994 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000393.3 -1 reviewed p.R111I 1.000 106 0% 57 24.6% 24 0% possibly_damaging(0.847) - - NULL SLC40A1 30061 genome.wustl.edu 37 2 190428718 190428718 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014585.5 -1 reviewed p.A332T 1.000 152 0% 187 36.4% 36 38.8% possibly_damaging(0.6) tolerated(0.08) deleterious(0.507) HMMPfam_FPN1,superfamily_MFS general substrate transporter ANKAR 150709 genome.wustl.edu 37 2 190554573 190554573 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144708.3 +1 validated p.D237Y 0.998 46 0% 41 43.9% 1 100% benign(0) deleterious(0) neutral(0.445) superfamily_Ankyrin repeat ANKAR 150709 genome.wustl.edu 37 2 190554627 190554627 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144708.3 +1 validated p.L255I 0.997 54 0% 70 17.1% 1 0% possibly_damaging(0.739) deleterious(0) deleterious(0.715) superfamily_Ankyrin repeat ANKAR 150709 genome.wustl.edu 37 2 190593419 190593419 + Missense_Mutation SNP G G C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144708.3 +1 validated p.S951T 1.000 127 0% 184 39.7% 1 100% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMSmart_SM00185,superfamily_ARM repeat PMS1 5378 genome.wustl.edu 37 2 190717473 190717473 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000534.4 +1 reviewed p.S264 0.936 124 0% 108 32.4% 3 66.6% - - - HMMPfam_DNA_mis_repair,superfamily_Ribosomal_S5_D2-typ_fold MSTN 2660 genome.wustl.edu 37 2 190922273 190922273 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005259.2 -1 reviewed p.R280Q 1.000 138 0% 101 31.7% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_TGF_beta,superfamily_Cystine-knot cytokines MSTN 2660 genome.wustl.edu 37 2 190925094 190925094 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005259.2 -1 reviewed p.Q147 0.783 157 0% 72 34.7% 0 - - - - HMMPfam_TGFb_propeptide MFSD6 54842 genome.wustl.edu 37 2 191301982 191301982 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017694.3 +1 validated p.P409 0.092 158 0% 239 36.8% 10 30% - - - superfamily_MFS_gen_substrate_transporter MFSD6 54842 genome.wustl.edu 37 2 191353526 191353526 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017694.3 +1 validated p.V592M 1.000 365 0% 584 32.7% 12 50% probably_damaging(0.953) tolerated(0.25) neutral(0.433) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter TMEM194B 100131211 genome.wustl.edu 37 2 191374029 191374029 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142645.1 -1 validated p.D380 1.000 129 0% 135 34.8% 6 33.3% - - - HMMPfam_DUF2215 GLS 2744 genome.wustl.edu 37 2 191788671 191788671 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014905.3 +1 validated p.R387* 1.000 87 0% 71 25.4% 6 16.6% - - - superfamily_beta-lactamase/transpeptidase-like,HMMPfam_Glutaminase GLS 2744 genome.wustl.edu 37 2 191818309 191818309 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014905.3 +1 validated p.L557I 1.000 316 0% 407 32.7% 1 100% possibly_damaging(0.842) tolerated(0.07) deleterious(0.641) superfamily_Ankyrin repeat STAT1 6772 genome.wustl.edu 37 2 191854352 191854352 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007315.3 -1 reviewed p.V362 0.987 102 0% 87 26.4% 29 20.6% - - - superfamily_p53-like transcription factors,HMMPfam_STAT_bind STAT4 6775 genome.wustl.edu 37 2 191903933 191903933 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003151.2 -1 reviewed p.D476N 1.000 181 0% 285 36.8% 0 - benign(0.009) tolerated(0.64) neutral(0.004) superfamily_P53_like_DNA_bnd,HMMPfam_STAT_bind STAT4 6775 genome.wustl.edu 37 2 191931229 191931229 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003151.2 -1 reviewed p.K186R 1.000 162 0% 194 29.4% 1 0% benign(0.01) tolerated(0.58) neutral(0.005) HMMPfam_STAT_alpha,superfamily_STAT SLC39A10 57181 genome.wustl.edu 37 2 196573540 196573540 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001127257.1 +1 validated p.R516I 0.998 137 0% 156 28.8% 7 57.1% possibly_damaging(0.935) tolerated(0.11) deleterious(0.652) HMMPfam_Zip SLC39A10 57181 genome.wustl.edu 37 2 196581650 196581650 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001127257.1 +1 validated p.K662N 0.993 164 0% 235 32.3% 7 71.4% probably_damaging(0.999) tolerated(0.06) deleterious(0.813) HMMPfam_Zip DNAH7 56171 genome.wustl.edu 37 2 196640693 196640693 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018897.2 -1 validated p.I3693 0.040 338 0% 547 32.7% 2 50% - - - HMMPfam_Dynein_heavy DNAH7 56171 genome.wustl.edu 37 2 196726444 196726444 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018897.2 -1 validated p.R2578I 1.000 86 0% 47 34% 0 - probably_damaging(0.994) tolerated(0.11) deleterious(0.724) superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH7 56171 genome.wustl.edu 37 2 196729429 196729429 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018897.2 -1 validated p.R2317Q 1.000 284 0% 272 32.7% 0 - possibly_damaging(0.95) tolerated(0.24) neutral(0.431) superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH7 56171 genome.wustl.edu 37 2 196746611 196746611 + Nonsense_Mutation SNP G G A rs149212659 TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018897.2 -1 validated p.R1957* 0.998 285 0% 394 32.7% 1 100% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH7 56171 genome.wustl.edu 37 2 196765043 196765043 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018897.2 -1 validated p.A1504V 1.000 131 0% 122 32.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases HECW2 57520 genome.wustl.edu 37 2 197106878 197106878 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020760.1 -1 provisional p.E1194K 1.000 320 0% 471 27.2% 1 0% probably_damaging(0.998) tolerated(0.34) deleterious(0.497) NULL C2orf66 401027 genome.wustl.edu 37 2 197674092 197674092 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_213608.1 -1 predicted p.R7H 0.000 255 0% 378 38.1% 0 - benign(0) - - NULL PGAP1 80055 genome.wustl.edu 37 2 197740525 197740525 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024989.3 -1 validated p.F457L 1.000 90 0% 82 37.8% 1 100% probably_damaging(0.99) tolerated(0.37) neutral(0.461) NULL COQ10B 80219 genome.wustl.edu 37 2 198338631 198338631 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025147.3 +1 provisional p.E234* 1.000 109 0% 219 34.7% 15 40% - - - NULL RFTN2 130132 genome.wustl.edu 37 2 198480650 198480650 + Splice_Site SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000414909 -1 known e3-1 0.996 152 0% 276 37% 2 100% - - - - RFTN2 130132 genome.wustl.edu 37 2 198540106 198540106 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144629.2 -1 validated p.P26L 1.000 238 0% 228 32.9% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PLCL1 5334 genome.wustl.edu 37 2 198949661 198949661 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006226.3 +1 validated p.V376I 1.000 133 0% 117 23.9% 0 - benign(0.03) tolerated(0.77) neutral(0.003) HMMPfam_PI-PLC-X,HMMSmart_PLCXc,superfamily_PLC-like_Pdiesterase_TIM-brl PLCL1 5334 genome.wustl.edu 37 2 198968592 198968592 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006226.3 +1 validated p.E915* 1.000 166 0% 113 26.5% 2 0% - - - NULL SATB2 23314 genome.wustl.edu 37 2 200193611 200193611 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015265.3 -1 reviewed p.R399H 1.000 135 0% 121 35.5% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CUT SGOL2 151246 genome.wustl.edu 37 2 201434589 201434589 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152524.5 +1 validated p.S226Y 0.083 102 0% 122 34.4% 1 100% benign(0.076) tolerated(0.28) neutral(0.037) NULL SGOL2 151246 genome.wustl.edu 37 2 201436084 201436084 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152524.5 +1 validated p.E339* 0.018 55 0% 47 31.9% 1 0% - - - NULL AOX1 316 genome.wustl.edu 37 2 201470304 201470304 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001159.3 +1 reviewed p.S287Y 1.000 139 0% 157 31.8% 0 - possibly_damaging(0.607) tolerated(0.12) deleterious(0.471) HMMPfam_FAD_binding_5,superfamily_FAD-binding domain AOX1 316 genome.wustl.edu 37 2 201515701 201515701 + Missense_Mutation SNP G G A rs142541240 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001159.3 +1 reviewed p.R951Q 0.993 92 0% 141 35.5% 0 - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMPfam_Ald_Xan_dh_C2,superfamily_Molybdenum cofactor-binding domain BZW1 9689 genome.wustl.edu 37 2 201677936 201677936 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000452790 +1 known p.S31F 1.000 145 0% 232 25.4% 54 44.4% probably_damaging(0.989) - - NULL ORC2 4999 genome.wustl.edu 37 2 201798685 201798685 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006190.3 -1 reviewed p.E241* 1.000 121 0% 152 27.6% 3 0% - - - NULL CFLAR 8837 genome.wustl.edu 37 2 202000992 202000992 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000395148 +1 known p.L199I 0.000 20 0% 42 45.2% 0 - benign(0.014) deleterious(0) neutral(0.445) NULL CASP8 841 genome.wustl.edu 37 2 202136317 202136317 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080125.1 +1 reviewed p.I187 0.002 250 0% 402 32.1% 3 66.6% - - - HMMPfam_DED,HMMSmart_SM00031,superfamily_DEATH domain ALS2CR12 130540 genome.wustl.edu 37 2 202163968 202163968 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_139163.2 -1 validated p.T312I 0.651 403 0% 559 31.7% 1 0% possibly_damaging(0.922) deleterious(0.02) deleterious(0.754) NULL STRADB 55437 genome.wustl.edu 37 2 202323584 202323584 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018571.5 +1 reviewed p.Y30* 0.629 110 0% 107 34.6% 6 16.6% - - - NULL ALS2CR11 151254 genome.wustl.edu 37 2 202356833 202356833 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000439140 -1 known p.R1411* 0.005 158 0% 164 37.8% 0 - - - - NULL ALS2CR11 151254 genome.wustl.edu 37 2 202358053 202358053 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000439140 -1 known p.R1004I 0.005 38 0% 35 34.3% 0 - benign(0.379) - - NULL ALS2CR11 151254 genome.wustl.edu 37 2 202359008 202359008 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000439140 -1 known p.L686I 0.997 86 0% 77 29.9% 0 - probably_damaging(0.991) - - NULL ALS2 57679 genome.wustl.edu 37 2 202611451 202611451 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020919.3 -1 reviewed p.V612 1.000 61 0% 100 41% 2 100% - - - superfamily_RCC1/BLIP-II CDK15 65061 genome.wustl.edu 37 2 202688452 202688452 + Splice_Site SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_139158.1 +1 provisional e5+2 1.000 288 0% 343 32.9% 0 - - - - - FZD7 8324 genome.wustl.edu 37 2 202900642 202900642 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003507.1 +1 reviewed p.F424 0.999 57 0% 67 32.8% 17 17.6% - - - HMMPfam_Frizzled NBEAL1 65065 genome.wustl.edu 37 2 204067505 204067505 + Splice_Site SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001114132.1 +1 validated e49+1 1.000 147 0% 281 34.5% 0 - - - - - CYP20A1 57404 genome.wustl.edu 37 2 204131377 204131377 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000433033 +1 known p.S77* 1.000 106 0% 214 34.1% 3 66.6% - - - NULL RAPH1 65059 genome.wustl.edu 37 2 204324748 204324748 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_213589.1 -1 validated p.R325I 1.000 227 0% 246 39.8% 1 0% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_RA,HMMSmart_SM00314 PARD3B 117583 genome.wustl.edu 37 2 206166260 206166260 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152526.4 +1 validated p.S760L 0.036 142 0% 240 32.5% 2 0% benign(0.039) tolerated(0.28) neutral(0.034) NULL NRP2 8828 genome.wustl.edu 37 2 206617599 206617599 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_201266.1 +1 reviewed p.F648 0.990 130 0% 147 36.7% 18 11.1% - - - HMMPfam_MAM,HMMSmart_SM00137 NDUFS1 4719 genome.wustl.edu 37 2 207007477 207007477 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005006.5 -1 reviewed p.D356Y 1.000 84 0% 162 32.1% 26 57.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Molybdopterin,superfamily_SSF53706 EEF1B2 1933 genome.wustl.edu 37 2 207027313 207027313 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001037663.1 +1 reviewed p.Q166H 1.000 119 0% 248 32.7% 1222 43.5% benign(0.009) deleterious(0) neutral(0.445) HMMPfam_EF1_GNE,superfamily_eEF-1beta-like ZDBF2 57683 genome.wustl.edu 37 2 207170245 207170245 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020923.1 +1 validated p.E331 0.013 72 0% 67 29.9% 0 - - - - NULL ZDBF2 57683 genome.wustl.edu 37 2 207170441 207170441 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020923.1 +1 validated p.D397Y 0.001 226 0% 192 26.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZDBF2 57683 genome.wustl.edu 37 2 207174223 207174223 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020923.1 +1 validated p.S1657 0.000 112 1.8% 138 30.4% 0 - - - - NULL ZDBF2 57683 genome.wustl.edu 37 2 207174442 207174442 + Silent SNP G G A rs140337696 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020923.1 +1 validated p.S1730 0.000 105 0% 183 40.4% 0 - - - - NULL ZDBF2 57683 genome.wustl.edu 37 2 207174545 207174545 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020923.1 +1 validated p.E1765* 0.000 69 0% 107 30.8% 0 - - - - NULL FASTKD2 22868 genome.wustl.edu 37 2 207631601 207631601 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001136193.1 +1 reviewed p.N62H 0.001 169 0% 185 38.4% 3 33.3% possibly_damaging(0.716) deleterious(0.02) deleterious(0.642) NULL FASTKD2 22868 genome.wustl.edu 37 2 207639088 207639088 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001136193.1 +1 reviewed p.S465Y 1.000 237 0% 242 28.5% 14 57.1% possibly_damaging(0.92) tolerated(0.09) deleterious(0.667) HMMPfam_FAST_1 FASTKD2 22868 genome.wustl.edu 37 2 207652671 207652671 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001136193.1 +1 reviewed p.K535N 0.152 101 1% 117 32.5% 26 46.1% benign(0.056) deleterious(0.02) neutral(0.387) HMMPfam_FAST_2 CPO 130749 genome.wustl.edu 37 2 207820237 207820237 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173077.2 +1 validated p.T72 0.977 223 0% 272 12.5% 0 - - - - HMMPfam_Peptidase_M14,HMMSmart_Zn_pept,superfamily_SSF53187 CREB1 1385 genome.wustl.edu 37 2 208442472 208442472 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000455757 +1 known p.S138Y 0.138 51 0% 71 22.5% 0 - benign(0.095) - - NULL PLEKHM3 389072 genome.wustl.edu 37 2 208842186 208842186 + Silent SNP G G A rs191382851 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080475.2 -1 validated p.L245 0.005 321 0% 513 30% 0 - - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like PLEKHM3 389072 genome.wustl.edu 37 2 208865988 208865988 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080475.2 -1 validated p.R126W 0.995 123 0% 139 28.8% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PTH2R 5746 genome.wustl.edu 37 2 209309470 209309470 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005048.2 +1 reviewed p.K237N 1.000 604 0% 709 31.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_2,superfamily_SSF81321 PTH2R 5746 genome.wustl.edu 37 2 209358372 209358372 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005048.2 +1 reviewed p.E547D 0.993 48 0% 116 24.1% 2 50% benign(0.011) tolerated(0.17) neutral(0.059) NULL MAP2 4133 genome.wustl.edu 37 2 210557777 210557777 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002374.3 +1 reviewed p.K295Q 1.000 55 0% 45 17.8% 1 0% possibly_damaging(0.947) deleterious(0) deleterious(0.835) NULL MAP2 4133 genome.wustl.edu 37 2 210558211 210558211 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002374.3 +1 reviewed p.E439 0.059 131 0% 160 30% 0 - - - - HMMPfam_MAP2_projctn MAP2 4133 genome.wustl.edu 37 2 210558577 210558577 + Silent SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002374.3 +1 reviewed p.P561 0.365 98 0% 124 36.3% 0 - - - - HMMPfam_MAP2_projctn MAP2 4133 genome.wustl.edu 37 2 210559073 210559073 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002374.3 +1 reviewed p.L727M 1.000 110 0% 91 36.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_MAP2_projctn MAP2 4133 genome.wustl.edu 37 2 210565059 210565059 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002374.3 +1 reviewed p.V1527 0.994 248 0% 200 29.5% 6 66.6% - - - NULL UNC80 285175 genome.wustl.edu 37 2 210752928 210752928 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032504.1 +1 validated p.S1409Y 1.000 90 0% 71 28.2% 0 - probably_damaging(0.981) deleterious(0) deleterious(0.870) NULL UNC80 285175 genome.wustl.edu 37 2 210787085 210787085 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032504.1 +1 validated p.V1814 1.000 103 0% 117 36.8% 0 - - - - NULL KANSL1L 151050 genome.wustl.edu 37 2 210894636 210894636 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152519.2 -1 validated p.R721I 0.992 170 0% 200 44.5% 0 - possibly_damaging(0.837) deleterious(0) deleterious(0.764) NULL ACADL 33 genome.wustl.edu 37 2 211070417 211070417 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001608.3 -1 reviewed p.E236G 1.000 272 0% 385 34.5% 2 0% benign(0.315) deleterious(0) deleterious(0.543) superfamily_AcylCoA_dehyd_NM CPS1 1373 genome.wustl.edu 37 2 211469901 211469901 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001122633.1 +1 reviewed p.R644* 1.000 213 0% 148 27.7% 0 - - - - HMMPfam_CPSase_L_D2,superfamily_Glutathione synthetase ATP-binding domain-like CPS1 1373 genome.wustl.edu 37 2 211512710 211512710 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001122633.1 +1 reviewed p.R1095C 1.000 103 0% 99 36.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CPSase_L_D2,superfamily_PreATP-grasp domain,superfamily_Glutathione synthetase ATP-binding domain-like CPS1 1373 genome.wustl.edu 37 2 211512711 211512711 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001122633.1 +1 reviewed p.R1095H 1.000 102 0% 99 32.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CPSase_L_D2,superfamily_PreATP-grasp domain,superfamily_Glutathione synthetase ATP-binding domain-like ERBB4 2066 genome.wustl.edu 37 2 212248394 212248394 + Missense_Mutation SNP C C G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005235.2 -1 reviewed p.K1291N 1.000 187 0% 140 32.9% 1 0% probably_damaging(0.981) deleterious(0.01) deleterious(0.831) NULL ERBB4 2066 genome.wustl.edu 37 2 212251811 212251811 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005235.2 -1 reviewed p.A1083V 0.998 153 0% 224 28.6% 1 100% benign(0.282) tolerated(0.27) neutral(0.120) NULL IKZF2 22807 genome.wustl.edu 37 2 213921719 213921719 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016260.2 -1 reviewed p.E82K 1.000 270 0% 163 38% 0 - benign(0.32) tolerated(0.18) neutral(0.156) NULL SPAG16 79582 genome.wustl.edu 37 2 214215350 214215350 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024532.3 +1 validated p.R248I 1.000 147 0% 134 35.8% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_WD40 repeat-like SPAG16 79582 genome.wustl.edu 37 2 215274902 215274902 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024532.3 +1 validated p.H587N 1.000 128 0% 166 32.5% 0 - possibly_damaging(0.642) deleterious(0.04) deleterious(0.574) HMMSmart_SM00320,superfamily_WD40 repeat-like SPAG16 79582 genome.wustl.edu 37 2 215275025 215275025 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024532.3 +1 validated p.R628* 0.106 178 0% 195 34.4% 0 - - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 LOC100128203 100128203 genome.wustl.edu 37 2 215562751 215562751 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_001717729.1 +1 model p.R153I 1.000 64 0% 101 39.6% 0 - - - - NULL ABCA12 26154 genome.wustl.edu 37 2 215798885 215798885 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173076.2 -1 reviewed p.A2533T 1.000 249 0% 184 22.8% 1 0% probably_damaging(0.999) tolerated(0.06) deleterious(0.813) NULL ABCA12 26154 genome.wustl.edu 37 2 215843590 215843590 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173076.2 -1 reviewed p.D1639N 1.000 165 0% 204 34.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ATIC 471 genome.wustl.edu 37 2 216203539 216203539 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004044.6 +1 reviewed p.R379Q 1.000 118 0% 197 29.9% 58 50% probably_damaging(0.976) deleterious(0) deleterious(0.863) HMMPfam_AICARFT_IMPCHas,HMMSmart_AICARFT_IMPCHas,superfamily_AICARFT_IMPCHas_formly FN1 2335 genome.wustl.edu 37 2 216257726 216257726 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_212482.1 -1 reviewed p.D1333Y 1.000 173 0% 202 29.7% 21 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III FN1 2335 genome.wustl.edu 37 2 216263993 216263993 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_212482.1 -1 reviewed p.R1112I 1.000 185 0% 202 34.7% 49 0% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III MARCH4 57574 genome.wustl.edu 37 2 217124292 217124292 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020814.2 -1 validated p.Q326K 1.000 154 0% 235 27.7% 1 0% possibly_damaging(0.663) tolerated(0.64) neutral(0.237) NULL SMARCAL1 50485 genome.wustl.edu 37 2 217279793 217279793 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001127207.1 +1 reviewed p.I122 0.476 65 0% 105 34.3% 8 0% - - - NULL SMARCAL1 50485 genome.wustl.edu 37 2 217293331 217293331 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001127207.1 +1 reviewed p.R387H 0.418 99 0% 182 33% 11 72.7% benign(0.292) deleterious(0.01) deleterious(0.496) HMMPfam_HARP TNS1 7145 genome.wustl.edu 37 2 218682693 218682693 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022648.4 -1 reviewed p.T1350 0.723 83 0% 87 24.1% 20 0% - - - NULL TNS1 7145 genome.wustl.edu 37 2 218700919 218700919 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022648.4 -1 reviewed p.E883A 1.000 45 0% 42 21.4% 1 0% probably_damaging(0.981) tolerated(0.05) deleterious(0.771) NULL TNS1 7145 genome.wustl.edu 37 2 218712394 218712394 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022648.4 -1 reviewed p.P824L 0.860 126 0% 176 30.7% 6 0% benign(0) deleterious(0.03) neutral(0.364) NULL TMBIM1 64114 genome.wustl.edu 37 2 219144821 219144821 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022152.4 -1 validated p.E77D 0.995 160 0% 263 31.6% 22 18.1% benign(0.001) tolerated(0.85) neutral(0.001) NULL USP37 57695 genome.wustl.edu 37 2 219350460 219350460 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020935.2 -1 validated p.E533* 1.000 127 0% 228 32.9% 0 - - - - HMMPfam_UCH,superfamily_Cysteine proteinases USP37 57695 genome.wustl.edu 37 2 219362475 219362475 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020935.2 -1 validated p.F421L 1.000 169 0% 297 34.7% 1 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_UCH,superfamily_Cysteine proteinases PLCD4 84812 genome.wustl.edu 37 2 219486299 219486299 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032726.2 +1 provisional p.E173* 0.976 198 0% 464 26.9% 0 - - - - superfamily_EF-hand ZNF142 7701 genome.wustl.edu 37 2 219514107 219514107 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001105537.1 -1 validated p.R175Q 1.000 72 0% 142 35.9% 5 80% benign(0.371) deleterious(0.02) deleterious(0.501) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF142 7701 genome.wustl.edu 37 2 219520966 219520966 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001105537.1 -1 validated p.A63T 1.000 88 0% 167 31.1% 3 66.6% probably_damaging(0.98) deleterious(0) deleterious(0.869) NULL STK36 27148 genome.wustl.edu 37 2 219559356 219559356 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015690.3 +1 validated p.E837* 1.000 61 0% 125 36% 9 33.3% - - - superfamily_ARM repeat PRKAG3 53632 genome.wustl.edu 37 2 219692041 219692041 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017431.2 -1 reviewed p.L311I 1.000 164 0% 293 35.5% 0 - benign(0) tolerated(1) - HMMPfam_CBS,HMMSmart_SM00116,superfamily_CBS-domain PRKAG3 53632 genome.wustl.edu 37 2 219692351 219692351 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017431.2 -1 reviewed p.E274D 1.000 132 0% 197 40.6% 0 - benign(0) tolerated(0.1) neutral(0.286) HMMPfam_CBS WNT6 7475 genome.wustl.edu 37 2 219736439 219736439 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006522.3 +1 reviewed p.F178 1.000 17 0% 38 39.5% 34 38.2% - - - HMMPfam_wnt,HMMSmart_WNT1 WNT10A 80326 genome.wustl.edu 37 2 219754711 219754711 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025216.2 +1 reviewed p.R128* 1.000 85 0% 144 38.9% 19 15.7% - - - HMMPfam_wnt,HMMSmart_SM00097 CCDC108 255101 genome.wustl.edu 37 2 219884308 219884308 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_194302.2 -1 provisional p.F1131L 1.000 32 0% 45 20% 0 - possibly_damaging(0.849) tolerated(0.15) deleterious(0.567) NULL CCDC108 255101 genome.wustl.edu 37 2 219894799 219894799 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_194302.2 -1 provisional p.K431N 0.013 87 0% 123 29.3% 1 100% benign(0.141) tolerated(0.44) neutral(0.025) NULL NHEJ1 79840 genome.wustl.edu 37 2 220022258 220022258 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024782.2 -1 reviewed p.R109Q 1.000 112 0% 210 32.4% 6 0% benign(0.253) tolerated(0.19) neutral(0.075) HMMPfam_XLF NHEJ1 79840 genome.wustl.edu 37 2 220022956 220022956 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024782.2 -1 reviewed p.Q43H 0.893 90 0% 164 29.3% 7 57.1% benign(0.001) tolerated(0.36) neutral(0.020) HMMPfam_XLF ANKZF1 55139 genome.wustl.edu 37 2 220096677 220096677 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000416565 +1 known p.E41* 0.516 113 0% 213 31.9% 14 42.8% - - - NULL GLB1L 79411 genome.wustl.edu 37 2 220104953 220104953 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024506.3 -1 provisional p.P169Q 1.000 200 0% 391 34.3% 1 0% probably_damaging(0.988) deleterious(0.04) deleterious(0.786) HMMPfam_Glyco_hydro_35,superfamily_(Trans)glycosidases GLB1L 79411 genome.wustl.edu 37 2 220107272 220107272 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024506.3 -1 provisional p.R139* 0.391 189 0% 327 31.5% 2 0% - - - HMMPfam_Glyco_hydro_35,superfamily_(Trans)glycosidases TUBA4A 7277 genome.wustl.edu 37 2 220115764 220115764 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006000.1 -1 reviewed p.I219 1.000 188 0% 363 32.2% 141 68.7% - - - HMMPfam_Tubulin,superfamily_Tubulin nucleotide-binding domain-like PTPRN 5798 genome.wustl.edu 37 2 220167424 220167424 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002846.2 -1 reviewed p.S171 0.064 39 0% 49 24.5% 0 - benign(0.146) tolerated(0.17) neutral(0.071) NULL DNPEP 23549 genome.wustl.edu 37 2 220250805 220250805 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012100.2 -1 reviewed p.R159W 0.186 87 0% 132 35.6% 81 35.8% probably_damaging(0.986) deleterious(0) deleterious(0.879) HMMPfam_Peptidase_M18,superfamily_SSF53187 DES 1674 genome.wustl.edu 37 2 220290427 220290427 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001927.3 +1 reviewed p.K444T 1.000 64 0% 149 31.5% 34 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ASIC4 55515 genome.wustl.edu 37 2 220402754 220402754 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018674.4 +1 reviewed p.D663Y 1.000 80 0% 88 25% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SLC4A3 6508 genome.wustl.edu 37 2 220497002 220497002 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_201574.2 +1 validated p.E354K 1.000 60 0% 63 31.7% 4 25% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Phoshotransferase/anion transport protein SLC4A3 6508 genome.wustl.edu 37 2 220498034 220498034 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_201574.2 +1 validated p.R466Q 1.000 95 0% 133 35.3% 9 55.5% probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_Band_3_cyto,superfamily_Phoshotransferase/anion transport protein SLC4A3 6508 genome.wustl.edu 37 2 220506403 220506403 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_201574.2 +1 validated p.D1245N 1.000 181 0% 204 31.4% 34 41.1% possibly_damaging(0.564) deleterious(0.01) deleterious(0.598) NULL SCG2 7857 genome.wustl.edu 37 2 224463092 224463092 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003469.3 -1 reviewed p.L303 0.549 155 0% 198 35.9% 2 0% - - - HMMPfam_Granin SCG2 7857 genome.wustl.edu 37 2 224463191 224463191 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003469.3 -1 reviewed p.E270D 1.000 368 0% 440 30.9% 1 0% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) HMMPfam_Granin SERPINE2 5270 genome.wustl.edu 37 2 224866564 224866564 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001136530.1 -1 validated p.I30 0.002 158 0% 231 26.4% 29 37.9% - - - NULL FAM124B 79843 genome.wustl.edu 37 2 225266078 225266078 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001122779.1 -1 validated p.E136D 0.998 84 0% 83 36.1% 0 - benign(0.229) tolerated(0.2) neutral(0.072) NULL CUL3 8452 genome.wustl.edu 37 2 225376286 225376286 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003590.3 -1 validated p.K223T 1.000 193 0% 236 15.3% 12 0% benign(0.014) tolerated(0.28) neutral(0.032) HMMPfam_Cullin,superfamily_Cullin repeat CUL3 8452 genome.wustl.edu 37 2 225378309 225378309 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003590.3 -1 validated p.E196K 1.000 95 0% 86 30.2% 16 43.7% benign(0) tolerated(0.32) neutral(0.024) HMMPfam_Cullin,superfamily_Cullin repeat CUL3 8452 genome.wustl.edu 37 2 225400354 225400354 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003590.3 -1 validated p.R90Q 1.000 230 0% 337 33.2% 17 35.2% possibly_damaging(0.834) tolerated(0.12) deleterious(0.579) HMMPfam_Cullin,superfamily_Cullin repeat DOCK10 55619 genome.wustl.edu 37 2 225659611 225659611 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000409802 -1 known p.R439W 0.732 140 0% 199 34.7% 2 0% - - - NULL DOCK10 55619 genome.wustl.edu 37 2 225661760 225661760 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014689.2 -1 validated p.A1583V 1.000 113 0% 147 27.9% 1 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL DOCK10 55619 genome.wustl.edu 37 2 225721685 225721685 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014689.2 -1 validated p.D567G 1.000 200 0% 213 32.9% 1 0% probably_damaging(0.99) tolerated(0.37) neutral(0.461) NULL DOCK10 55619 genome.wustl.edu 37 2 225739465 225739465 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014689.2 -1 validated p.S312L 0.914 235 0% 260 38.1% 0 - benign(0.001) tolerated(0.29) neutral(0.029) NULL DOCK10 55619 genome.wustl.edu 37 2 225761044 225761044 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014689.2 -1 validated p.E128 1.000 142 0% 216 27.8% 0 - - - - NULL NYAP2 57624 genome.wustl.edu 37 2 226446755 226446755 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020864.1 +1 validated p.D208N 1.000 60 0% 84 35.7% 0 - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) NULL NYAP2 57624 genome.wustl.edu 37 2 226447094 226447094 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020864.1 +1 validated p.D321N 1.000 76 0% 49 26.5% 1 100% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL COL4A4 1286 genome.wustl.edu 37 2 227924157 227924157 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000092.4 -1 reviewed p.G783* 1.000 168 0% 200 30.5% 0 - - - - NULL COL4A4 1286 genome.wustl.edu 37 2 227924334 227924334 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000092.4 -1 reviewed p.R724C 0.483 42 0% 60 30% 0 - probably_damaging(0.997) tolerated(0.09) deleterious(0.762) NULL COL4A4 1286 genome.wustl.edu 37 2 227983399 227983399 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000092.4 -1 reviewed p.P151S 1.000 79 0% 99 32.3% 0 - probably_damaging(0.996) tolerated(0.11) deleterious(0.733) HMMPfam_Collagen COL4A3 1285 genome.wustl.edu 37 2 228131140 228131140 + Silent SNP C C T rs73080086 byCluster;by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000091.3 +1 reviewed p.I441 0.000 188 0% 218 34.4% 0 - - - - NULL COL4A3 1285 genome.wustl.edu 37 2 228135662 228135662 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000091.3 +1 reviewed p.G584 0.016 45 0% 62 35.5% 0 - - - - HMMPfam_Collagen COL4A3 1285 genome.wustl.edu 37 2 228145291 228145291 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000091.3 +1 reviewed p.L787F 0.944 56 0% 84 34.5% 0 - unknown(0) deleterious(0.04) - HMMPfam_Collagen COL4A3 1285 genome.wustl.edu 37 2 228145307 228145307 + Splice_Site SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000091.3 +1 reviewed e30+1 1.000 51 0% 73 42.5% 0 - - - - - COL4A3 1285 genome.wustl.edu 37 2 228147159 228147159 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000091.3 +1 reviewed p.G856E 1.000 139 0% 213 33.8% 0 - unknown(0) deleterious(0) - NULL COL4A3 1285 genome.wustl.edu 37 2 228159985 228159985 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000091.3 +1 reviewed p.G1173D 1.000 159 0.6% 185 27.6% 0 - unknown(0) deleterious(0) - NULL MFF 56947 genome.wustl.edu 37 2 228221781 228221781 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020194.4 +1 provisional p.S326* 1.000 167 0% 214 29.9% 97 46.3% - - - HMMPfam_DUF800 C2orf83 56918 genome.wustl.edu 37 2 228497739 228497739 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020161.3 -1 validated p.I21 0.001 127 0% 202 32.7% 0 - - - - HMMPfam_Folate_carrier SPHKAP 80309 genome.wustl.edu 37 2 228846565 228846565 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142644.1 -1 validated p.V1657 0.050 89 0% 84 40.5% 0 - - - - HMMPfam_AKAP_110 SPHKAP 80309 genome.wustl.edu 37 2 228881964 228881964 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142644.1 -1 validated p.I1202 0.025 37 0% 47 38.3% 0 - - - - NULL SPHKAP 80309 genome.wustl.edu 37 2 228883385 228883385 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142644.1 -1 validated p.R729W 0.000 191 0% 338 35.8% 0 - probably_damaging(0.983) deleterious(0.03) deleterious(0.793) NULL SPHKAP 80309 genome.wustl.edu 37 2 228884340 228884340 + Silent SNP A A T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142644.1 -1 validated p.S410 0.993 160 0% 300 31% 0 - - - - NULL SPHKAP 80309 genome.wustl.edu 37 2 228884532 228884532 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142644.1 -1 validated p.F346L 0.008 219 0% 316 33.2% 0 - benign(0) tolerated(1) - NULL DNER 92737 genome.wustl.edu 37 2 230271948 230271948 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_139072.3 -1 validated p.G575C 1.000 74 0% 80 31.2% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_EGF,HMMSmart_EGF,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_SSF57196 TRIP12 9320 genome.wustl.edu 37 2 230636299 230636299 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004238.1 -1 provisional p.S1840L 1.000 121 0% 143 37.1% 89 38.2% probably_damaging(0.982) deleterious(0) deleterious(0.871) HMMPfam_HECT,HMMSmart_HECTc,superfamily_HECT TRIP12 9320 genome.wustl.edu 37 2 230675762 230675762 + Splice_Site SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004238.1 -1 provisional e13-1 1.000 130 0% 199 30.7% 0 - - - - - TRIP12 9320 genome.wustl.edu 37 2 230678649 230678649 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004238.1 -1 provisional p.T593 0.027 97 1% 91 31.9% 11 54.5% - - - superfamily_ARM-type_fold TRIP12 9320 genome.wustl.edu 37 2 230679861 230679861 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004238.1 -1 provisional p.R514Q 1.000 94 0% 132 28% 6 33.3% possibly_damaging(0.936) deleterious(0.01) deleterious(0.787) superfamily_ARM-type_fold SLC16A14 151473 genome.wustl.edu 37 2 230910937 230910937 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152527.4 -1 validated p.S302L 0.971 74 0% 139 36% 0 - benign(0.349) tolerated(0.24) neutral(0.148) HMMPfam_MFS_1,superfamily_MFS general substrate transporter SP110 3431 genome.wustl.edu 37 2 231033881 231033881 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_080424.2 -1 reviewed p.F701V 0.000 122 0% 199 34.2% 0 - possibly_damaging(0.734) tolerated(0.05) deleterious(0.614) superfamily_Bromodomain SP110 3431 genome.wustl.edu 37 2 231050857 231050857 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_080424.2 -1 reviewed p.A378S 0.000 210 0% 229 31.9% 9 11.1% benign(0.15) tolerated(0.14) neutral(0.263) NULL SP110 3431 genome.wustl.edu 37 2 231067388 231067388 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_080424.2 -1 reviewed p.P319T 0.001 331 0% 549 33.7% 4 0% benign(0.001) tolerated(0.66) neutral(0.003) NULL SP110 3431 genome.wustl.edu 37 2 231076244 231076244 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_080424.2 -1 reviewed p.Q231R 0.006 215 0% 295 30.5% 5 60% possibly_damaging(0.515) deleterious(0.02) deleterious(0.556) NULL SP110 3431 genome.wustl.edu 37 2 231079815 231079815 + Silent SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_080424.2 -1 reviewed p.R56 0.000 129 0% 148 34.5% 2 100% - - - HMMPfam_Sp100 SP140 11262 genome.wustl.edu 37 2 231106179 231106179 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007237.4 +1 validated p.R156I 0.001 272 0% 244 33.2% 1 0% benign(0.233) tolerated(0.19) neutral(0.073) NULL SP140 11262 genome.wustl.edu 37 2 231150507 231150507 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007237.4 +1 validated p.K535N 0.006 236 0% 265 28.7% 0 - possibly_damaging(0.923) tolerated(0.06) deleterious(0.695) NULL SP140 11262 genome.wustl.edu 37 2 231162137 231162137 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007237.4 +1 validated p.R673I 0.000 253 0% 309 36.6% 0 - - - - NULL SP140 11262 genome.wustl.edu 37 2 231177331 231177331 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007237.4 +1 validated p.L846M 0.956 453 0% 596 32.6% 2 0% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain SP100 6672 genome.wustl.edu 37 2 231309028 231309028 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080391.1 +1 validated p.D136N 0.002 160 0% 207 32.4% 9 0% possibly_damaging(0.88) tolerated(0.21) neutral(0.387) HMMPfam_Sp100 SP100 6672 genome.wustl.edu 37 2 231313818 231313818 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080391.1 +1 validated p.S180Y 0.000 190 0% 291 35.1% 4 0% benign(0.045) deleterious(0.01) neutral(0.408) NULL SP100 6672 genome.wustl.edu 37 2 231326020 231326020 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080391.1 +1 validated p.S288 0.988 153 0% 227 40.1% 7 0% - - - NULL SP100 6672 genome.wustl.edu 37 2 231328805 231328805 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080391.1 +1 validated p.E361* 0.004 131 0% 131 23.7% 12 0% - - - NULL GPR55 9290 genome.wustl.edu 37 2 231775138 231775138 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005683.3 -1 validated p.K180N 0.000 88 0% 174 24.7% 0 - benign(0.08) tolerated(0.17) neutral(0.065) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like PSMD1 5707 genome.wustl.edu 37 2 231949808 231949808 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002807.2 +1 reviewed p.R600* 1.000 291 0% 398 37.7% 46 6.5% - - - HMMPfam_PC_rep,superfamily_ARM repeat ARMC9 80210 genome.wustl.edu 37 2 232156155 232156155 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025139.3 +1 validated p.S572 0.730 58 0% 111 37.8% 14 42.8% - - - superfamily_ARM-type_fold LOC729898 729898 genome.wustl.edu 37 2 232299133 232299133 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_001134101.1 -1 model p.A2V 0.462 119 0% 224 30.4% 0 - - - - NULL LINC00471 151477 genome.wustl.edu 37 2 232378309 232378309 + RNA SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NR_024079.1 -1 predicted NULL 0.000 228 0% 490 32.2% 0 - - - - - NMUR1 10316 genome.wustl.edu 37 2 232392962 232392962 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006056.4 -1 validated p.R257Q 1.000 29 0% 63 50.8% 1 0% possibly_damaging(0.626) tolerated(0.3) neutral(0.246) HMMPfam_7tm_1,superfamily_SSF81321 DIS3L2 129563 genome.wustl.edu 37 2 232952224 232952224 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152383.4 +1 validated p.E132* 1.000 70 0% 130 26.9% 3 0% - - - HMMPfam_OB_RNB DIS3L2 129563 genome.wustl.edu 37 2 233199397 233199397 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000418143 +1 known p.R10* 1.000 102 0% 108 25% 22 13.6% - - - NULL ECEL1 9427 genome.wustl.edu 37 2 233347834 233347834 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004826.2 -1 validated p.A521D 0.917 56 0% 74 48.6% 2 0% possibly_damaging(0.446) tolerated(0.13) neutral(0.398) "superfamily_Metalloproteases (""zincins"") catalytic domain" GIGYF2 26058 genome.wustl.edu 37 2 233684608 233684608 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001103147.1 +1 reviewed p.Q835 0.993 199 0% 406 36.9% 14 35.7% - - - NULL NGEF 25791 genome.wustl.edu 37 2 233748746 233748746 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019850.2 -1 validated p.E516K 0.950 136 0% 236 34.7% 0 - benign(0) tolerated(0.39) neutral(0.016) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like NGEF 25791 genome.wustl.edu 37 2 233750039 233750039 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019850.2 -1 validated p.R463H 1.000 234 0% 312 36.5% 2 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_DBL homology domain (DH-domain) NGEF 25791 genome.wustl.edu 37 2 233791774 233791774 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019850.2 -1 validated p.R169I 1.000 82 0% 131 36.6% 0 - benign(0.189) deleterious(0) neutral(0.462) NULL ATG16L1 55054 genome.wustl.edu 37 2 234183424 234183424 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030803.6 +1 validated p.F318 0.993 198 0% 300 38.3% 5 40% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 ATG16L1 55054 genome.wustl.edu 37 2 234191391 234191391 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030803.6 +1 validated p.R399* 0.999 191 0% 385 28.8% 14 7.1% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 USP40 55230 genome.wustl.edu 37 2 234394437 234394437 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000454354 -1 known p.S95L 0.892 31 0% 56 32.1% 12 25% - - - NULL UGT1A8 54576 genome.wustl.edu 37 2 234527074 234527074 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019076.4 +1 reviewed p.A241S 0.000 207 0% 229 31.4% 0 - benign(0) deleterious(0.05) neutral(0.345) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT1A10 54575 genome.wustl.edu 37 2 234545421 234545421 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019075.2 +1 reviewed p.D85Y 0.413 145 0% 183 25.7% 0 - possibly_damaging(0.88) deleterious(0) deleterious(0.788) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT1A10 54575 genome.wustl.edu 37 2 234545585 234545585 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019075.2 +1 reviewed p.E139D 0.000 418 0.2% 507 30.2% 0 - benign(0.023) tolerated(0.26) neutral(0.035) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT1A1 54658 genome.wustl.edu 37 2 234669366 234669366 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000463.2 +1 reviewed p.F145V 0.997 124 0% 230 33.9% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase TRPM8 79054 genome.wustl.edu 37 2 234846144 234846144 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024080.4 +1 validated p.K113N 1.000 144 0% 309 35.3% 0 - benign(0.035) tolerated(0.35) neutral(0.022) NULL TRPM8 79054 genome.wustl.edu 37 2 234869435 234869435 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024080.4 +1 validated p.E460* 0.899 149 0% 227 34.8% 0 - - - - NULL SH3BP4 23677 genome.wustl.edu 37 2 235949575 235949575 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014521.2 +1 reviewed p.F54 0.001 116 0% 181 37% 9 55.5% - - - superfamily_SH3-domain COL6A3 1293 genome.wustl.edu 37 2 238234268 238234268 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004369.3 -1 reviewed p.G3143V 1.000 375 0% 416 30.8% 302 0% unknown(0) - - HMMPfam_Kunitz_BPTI,HMMSmart_SM00131,PatternScan_BPTI_KUNITZ_1,superfamily_BPTI-like COL6A3 1293 genome.wustl.edu 37 2 238257024 238257024 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004369.3 -1 reviewed p.E2312* 1.000 113 0% 87 37.9% 53 0% - - - NULL COL6A3 1293 genome.wustl.edu 37 2 238273009 238273009 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004369.3 -1 reviewed p.E1967D 0.913 234 0% 245 33.9% 82 0% unknown(0) - - HMMSmart_SM00327,superfamily_vWA-like COL6A3 1293 genome.wustl.edu 37 2 238274454 238274454 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004369.3 -1 reviewed p.E1909* 0.998 72 0% 55 41.8% 89 0% - - - HMMSmart_SM00327,superfamily_vWA-like COL6A3 1293 genome.wustl.edu 37 2 238287544 238287544 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004369.3 -1 reviewed p.P744 0.081 84 0% 103 36.9% 13 0% - - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like COL6A3 1293 genome.wustl.edu 37 2 238296449 238296449 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004369.3 -1 reviewed p.R363H 0.003 71 0% 64 28.1% 2 0% unknown(0) - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like LRRFIP1 9208 genome.wustl.edu 37 2 238657028 238657028 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001137552.1 +1 validated p.D91Y 1.000 228 0.4% 363 28.1% 7 14.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF2051 LRRFIP1 9208 genome.wustl.edu 37 2 238680762 238680762 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001137550.1 +1 validated p.K516N 0.997 111 0% 243 26.3% 6 0% probably_damaging(0.991) deleterious(0.04) deleterious(0.793) HMMPfam_DUF2051 RBM44 375316 genome.wustl.edu 37 2 238726878 238726878 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080504.2 +1 validated p.K440T 0.001 98 0% 57 45.6% 0 - benign(0.068) tolerated(0.15) neutral(0.245) NULL ILKAP 80895 genome.wustl.edu 37 2 239079278 239079278 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030768.2 -1 reviewed p.D360N 0.986 37 0% 43 34.9% 76 32.8% benign(0.118) tolerated(0.23) neutral(0.051) HMMSmart_PP2C_SIG,HMMSmart_PP2Cc,superfamily_PP2C-related,HMMPfam_PP2C PRR21 643905 genome.wustl.edu 37 2 240981423 240981423 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080835.1 -1 provisional p.S326* 0.010 586 0.2% 1063 24% 0 - - - - NULL GPC1 2817 genome.wustl.edu 37 2 241402864 241402864 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002081.2 +1 reviewed p.R273Q 0.891 66 0% 64 40.6% 49 40.8% probably_damaging(0.956) tolerated(0.35) neutral(0.420) HMMPfam_Glypican,PatternScan_GLYPICAN KIF1A 547 genome.wustl.edu 37 2 241685554 241685554 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004321.4 -1 reviewed p.S934L 0.989 41 0% 39 38.5% 3 66.6% benign(0.013) deleterious(0.01) neutral(0.406) NULL SNED1 25992 genome.wustl.edu 37 2 241988171 241988171 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080437.1 +1 provisional p.L498F 1.000 194 0% 198 19.2% 5 0% probably_damaging(0.999) tolerated(0.71) deleterious(0.492) HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2,superfamily_EGF/Laminin PASK 23178 genome.wustl.edu 37 2 242065855 242065855 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015148.2 -1 validated p.P825 0.000 82 0% 150 41.3% 10 60% - - - NULL HDLBP 3069 genome.wustl.edu 37 2 242186272 242186272 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000373292 -1 known p.R424* 0.009 176 0% 251 33.1% 336 37.2% - - - HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) HDLBP 3069 genome.wustl.edu 37 2 242187718 242187718 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005336.3 -1 validated p.R520C 1.000 207 0% 305 32.8% 227 37% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_KH,HMMPfam_KH_1,superfamily_SSF54791 SEPT2 4735 genome.wustl.edu 37 2 242275279 242275279 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000457874 +1 known p.E8* 0.000 27 0% 69 31.9% 0 - unknown(0) - - NULL FARP2 9855 genome.wustl.edu 37 2 242430978 242430978 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014808.2 +1 validated p.R891W 0.005 54 0% 72 48.6% 3 33.3% probably_damaging(0.997) deleterious(0.02) deleterious(0.849) NULL BOK 666 genome.wustl.edu 37 2 242509658 242509658 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032515.3 +1 reviewed p.F156L 1.000 54 0% 58 32.8% 19 0% probably_damaging(0.996) tolerated(0.16) deleterious(0.521) HMMPfam_Bcl-2,HMMSmart_BCL,superfamily_SSF56854 PDCD1 5133 genome.wustl.edu 37 2 242793420 242793420 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000343705 -1 known p.L111F 0.015 42 0% 76 43.4% 0 - - - - NULL CHL1 10752 genome.wustl.edu 37 3 361505 361505 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006614.2 +1 reviewed p.F16L 0.035 192 0% 89 25.8% 0 - benign(0.009) tolerated(1) neutral(0.001) NULL CHL1 10752 genome.wustl.edu 37 3 440023 440023 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006614.2 +1 reviewed p.D1070N 1.000 143 0% 198 31.3% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL CHL1 10752 genome.wustl.edu 37 3 447386 447386 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006614.2 +1 reviewed p.R1223W 0.846 124 0% 110 24.5% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CNTN6 27255 genome.wustl.edu 37 3 1189717 1189717 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014461.2 +1 reviewed p.I9V 1.000 303 0% 188 26.1% 0 - unknown(0) tolerated(1) - NULL CNTN6 27255 genome.wustl.edu 37 3 1424750 1424750 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014461.2 +1 reviewed p.R764I 0.996 237 0% 226 29.2% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like CNTN6 27255 genome.wustl.edu 37 3 1425040 1425040 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014461.2 +1 reviewed p.S822* 0.038 209 0% 238 27.3% 0 - - - - HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like CNTN4 152330 genome.wustl.edu 37 3 2777934 2777934 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_175607.1 +1 reviewed p.E31* 1.000 268 0% 302 28.5% 0 - - - - HMMPfam_I-set,superfamily_Immunoglobulin CNTN4 152330 genome.wustl.edu 37 3 2942404 2942404 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_175607.1 +1 reviewed p.H326N 0.998 224 0% 231 30.7% 2 0% benign(0.016) deleterious(0.02) neutral(0.384) HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin TRNT1 51095 genome.wustl.edu 37 3 3188246 3188246 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182916.2 +1 validated p.V247 1.000 280 0% 419 32.5% 7 14.2% - - - superfamily_Poly A polymerase C-terminal region-like CRBN 51185 genome.wustl.edu 37 3 3214475 3214475 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000424814 -1 known p.E167* 1.000 326 0% 445 29.4% 12 41.6% possibly_damaging(0.756) tolerated(0.1) deleterious(0.566) HMMPfam_LON,HMMSmart_SM00464 LRRN1 57633 genome.wustl.edu 37 3 3887497 3887497 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020873.5 +1 validated p.F391C 1.000 88 0% 136 26.5% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_LRRCT,superfamily_SSF52058 LRRN1 57633 genome.wustl.edu 37 3 3888263 3888263 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020873.5 +1 validated p.A646 0.788 151 0% 136 30.9% 1 0% - - - NULL SETMAR 6419 genome.wustl.edu 37 3 4355199 4355199 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006515.3 +1 validated p.L258 0.957 112 0% 140 42.9% 8 50% - - - HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain SETMAR 6419 genome.wustl.edu 37 3 4358564 4358564 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006515.3 +1 validated p.I563 0.942 37 0% 42 31% 30 40% - - - HMMPfam_Transposase_1 ITPR1 3708 genome.wustl.edu 37 3 4558253 4558253 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001099952.2 +1 reviewed p.F26L 0.999 227 0% 424 35.1% 1 100% benign(0.228) deleterious(0.04) neutral(0.371) HMMPfam_Ins145_P3_rec ITPR1 3708 genome.wustl.edu 37 3 4687139 4687139 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001099952.2 +1 reviewed p.D231 0.871 180 0% 301 33.2% 0 - - - - HMMSmart_SM00472 ITPR1 3708 genome.wustl.edu 37 3 4709154 4709154 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001099952.2 +1 reviewed p.R603W 1.000 107 0% 171 25.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RYDR_ITPR ITPR1 3708 genome.wustl.edu 37 3 4714954 4714954 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001099952.2 +1 reviewed p.A780V 1.000 74 0% 86 23.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ITPR1 3708 genome.wustl.edu 37 3 4716020 4716020 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001099952.2 +1 reviewed p.T864M 1.000 339 0% 492 31.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ITPR1 3708 genome.wustl.edu 37 3 4752143 4752143 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001099952.2 +1 reviewed p.G1650 0.006 86 0% 119 30.3% 1 0% - - - NULL ITPR1 3708 genome.wustl.edu 37 3 4776994 4776994 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001099952.2 +1 reviewed p.L1786I 1.000 178 0% 256 38.7% 1 0% benign(0.287) tolerated(0.41) neutral(0.103) NULL BHLHE40 8553 genome.wustl.edu 37 3 5025373 5025373 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003670.2 +1 reviewed p.D412A 1.000 103 0% 173 36.4% 99 50.5% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL ARL8B 55207 genome.wustl.edu 37 3 5164052 5164052 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000438743 +1 known p.R25M 0.660 22 0% 20 25% 6 33.3% possibly_damaging(0.649) deleterious(0) deleterious(0.672) NULL EDEM1 9695 genome.wustl.edu 37 3 5229986 5229986 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014674.2 +1 validated p.D166N 0.999 12 0.000 9 0.444 7 28.5% probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_Glyco_hydro_47,superfamily_Seven-hairpin glycosidases GRM7 2917 genome.wustl.edu 37 3 7494490 7494490 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_181874.2 +1 reviewed p.F457L 1.000 78 1.3% 77 35.1% 0 - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_ANF_receptor,superfamily_SSF53822 GRM7 2917 genome.wustl.edu 37 3 7721828 7721828 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_181874.2 +1 reviewed p.I848 1.000 88 0% 114 30.7% 0 - - - - HMMPfam_7tm_3 OXTR 5021 genome.wustl.edu 37 3 8808956 8808956 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000916.3 -1 reviewed p.K306 0.970 13 0.000 9 0.444 5 0% - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like RAD18 56852 genome.wustl.edu 37 3 8940615 8940615 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020165.3 -1 reviewed p.E429* 0.188 233 0% 180 31.7% 6 16.6% - - - NULL THUMPD3 25917 genome.wustl.edu 37 3 9406949 9406949 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001114092.1 +1 validated p.I66S 1.000 92 0% 191 43.5% 8 50% possibly_damaging(0.926) tolerated(0.06) deleterious(0.697) NULL THUMPD3 25917 genome.wustl.edu 37 3 9412887 9412887 + Nonsense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000441127 +1 known p.L15* 0.000 97 0% 166 35.5% 9 55.5% benign(0.296) tolerated(0.11) neutral(0.363) NULL THUMPD3 25917 genome.wustl.edu 37 3 9425955 9425955 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001114092.1 +1 validated p.R432H 1.000 83 0% 100 37% 26 42.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UPF0020,superfamily_SSF53335 THUMPD3 25917 genome.wustl.edu 37 3 9426219 9426219 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000416603 +1 known p.N228D 0.996 303 0% 543 35% 45 40% - - - HMMPfam_UPF0020 SETD5 55209 genome.wustl.edu 37 3 9476076 9476076 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080517.1 +1 provisional p.G79E 1.000 145 0% 247 27.5% 9 33.3% probably_damaging(0.999) tolerated(0.1) deleterious(0.777) NULL SETD5 55209 genome.wustl.edu 37 3 9477573 9477573 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080517.1 +1 provisional p.K184Q 1.000 134 0% 298 38.3% 12 50% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL SETD5 55209 genome.wustl.edu 37 3 9516777 9516777 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000399686 +1 known p.D887N 0.950 110 0% 189 34.9% 34 38.2% - - - NULL MTMR14 64419 genome.wustl.edu 37 3 9726297 9726297 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001077525.2 +1 reviewed p.I331 1.000 241 0% 398 35.2% 34 32.3% - - - PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II BRPF1 7862 genome.wustl.edu 37 3 9780777 9780777 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001003694.1 +1 reviewed p.R232W 1.000 108 0% 299 35.5% 6 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_EPL1 BRPF1 7862 genome.wustl.edu 37 3 9787263 9787263 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001003694.1 +1 reviewed p.T1025 0.001 84 0% 107 29.9% 21 14.2% - - - NULL RPUSD3 285367 genome.wustl.edu 37 3 9885417 9885417 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000424438 -1 known p.E7D 0.000 6 0.000 6 0.667 0 - unknown(0) - - NULL IL17RC 84818 genome.wustl.edu 37 3 9962199 9962199 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153461.2 +1 reviewed p.E235K 0.986 87 0% 154 42.2% 7 28.5% possibly_damaging(0.637) tolerated(0.06) deleterious(0.545) NULL PRRT3 285368 genome.wustl.edu 37 3 9991760 9991760 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_207351.3 -1 validated p.L14M 0.995 26 0% 30 40% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL TMEM111 55831 genome.wustl.edu 37 3 10011470 10011470 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018447.1 -1 provisional p.R197Q 1.000 121 0% 169 33.7% 177 37.2% benign(0.197) tolerated(0.7) neutral(0.020) HMMPfam_DUF850 FANCD2 2177 genome.wustl.edu 37 3 10088317 10088317 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033084.3 +1 reviewed p.K396N 1.000 219 0% 394 28.7% 6 33.3% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL FANCD2 2177 genome.wustl.edu 37 3 10116324 10116324 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000421731 +1 known p.R442Q 0.978 180 0% 338 36.4% 16 50% - - - NULL ATP2B2 491 genome.wustl.edu 37 3 10426972 10426972 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001001331.2 -1 reviewed p.A327V 1.000 54 0% 61 31.1% 0 - benign(0.086) tolerated(0.28) neutral(0.038) HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transmembrane domain M SLC6A1 6529 genome.wustl.edu 37 3 11067950 11067950 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003042.3 +1 validated p.S328L 1.000 226 0% 249 34.5% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_SNF HRH1 3269 genome.wustl.edu 37 3 11301250 11301250 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000861.3 +1 reviewed p.R176Q 0.000 149 0% 233 36.9% 3 0% benign(0.017) tolerated(0.46) neutral(0.013) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like HRH1 3269 genome.wustl.edu 37 3 11302049 11302049 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000861.3 +1 reviewed p.K442 0.004 163 0% 325 36% 1 0% - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ATG7 10533 genome.wustl.edu 37 3 11468333 11468333 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006395.2 +1 validated p.S671Y 1.000 175 0% 252 30.6% 27 37% probably_damaging(0.979) tolerated(0.05) deleterious(0.767) superfamily_Activating enzymes of the ubiquitin-like proteins VGLL4 9686 genome.wustl.edu 37 3 11744489 11744489 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014667.2 -1 validated p.V7A 1.000 143 0% 178 33.1% 19 52.6% unknown(0) - - NULL PPARG 5468 genome.wustl.edu 37 3 12447443 12447443 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015869.4 +1 reviewed p.D228Y 1.000 94 0% 115 27.8% 12 50% possibly_damaging(0.74) deleterious(0) deleterious(0.716) NULL MKRN2 23609 genome.wustl.edu 37 3 12613589 12613589 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014160.3 +1 provisional p.R120M 0.956 41 2.4% 80 31.2% 13 46.1% benign(0) tolerated(0.09) neutral(0.296) NULL RAF1 5894 genome.wustl.edu 37 3 12626118 12626118 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002880.3 -1 reviewed p.P614 0.983 161 0% 304 38.2% 133 30.8% - - - superfamily_Protein kinase-like (PK-like) RAF1 5894 genome.wustl.edu 37 3 12626680 12626680 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002880.3 -1 reviewed p.V537I 1.000 60 0% 113 27.4% 83 33.7% probably_damaging(0.964) deleterious(0.01) deleterious(0.812) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase RAF1 5894 genome.wustl.edu 37 3 12660166 12660166 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002880.3 -1 reviewed p.D19Y 1.000 138 0% 269 33.5% 24 37.5% probably_damaging(0.993) deleterious(0) deleterious(0.895) NULL NUP210 23225 genome.wustl.edu 37 3 13401904 13401904 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024923.2 -1 reviewed p.E674K 0.997 118 0% 167 30.5% 17 58.8% probably_damaging(0.998) tolerated(0.27) deleterious(0.508) NULL HDAC11 79885 genome.wustl.edu 37 3 13522787 13522787 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024827.3 +1 reviewed p.R15H 0.865 81 0% 118 29.7% 6 33.3% possibly_damaging(0.907) deleterious(0.04) deleterious(0.710) superfamily_SSF52768 WNT7A 7476 genome.wustl.edu 37 3 13860670 13860670 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004625.3 -1 reviewed p.S274L 1.000 137 0% 181 30.9% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_wnt,HMMSmart_SM00097 XPC 7508 genome.wustl.edu 37 3 14187483 14187483 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004628.4 -1 reviewed p.K927N 0.062 186 0% 262 27.5% 34 44.1% possibly_damaging(0.56) deleterious(0.01) deleterious(0.597) NULL SLC6A6 6533 genome.wustl.edu 37 3 14485268 14485268 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001134367.1 +1 validated p.E42D 1.000 191 0% 281 34.9% 6 50% possibly_damaging(0.917) tolerated(0.41) neutral(0.383) HMMPfam_SNF GRIP2 80852 genome.wustl.edu 37 3 14547273 14547273 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080423.1 -1 provisional p.A906V 0.008 73 0% 73 26% 0 - - - - NULL C3orf20 84077 genome.wustl.edu 37 3 14746086 14746086 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032137.4 +1 validated p.K374T 0.988 197 0% 312 31.7% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL FGD5 152273 genome.wustl.edu 37 3 14861544 14861544 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152536.3 +1 validated p.E322 1.000 113 0% 90 32.2% 1 0% - - - NULL FGD5 152273 genome.wustl.edu 37 3 14939591 14939591 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152536.3 +1 validated p.R1019C 0.950 64 0% 79 36.7% 3 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) ZFYVE20 64145 genome.wustl.edu 37 3 15115891 15115891 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022340.2 -1 validated p.A585T 0.001 128 0% 225 35.6% 6 16.6% benign(0.01) deleterious(0.02) neutral(0.384) NULL ZFYVE20 64145 genome.wustl.edu 37 3 15137501 15137501 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022340.2 -1 validated p.D43Y 0.997 302 0% 506 31% 7 100% probably_damaging(0.954) deleterious(0.03) deleterious(0.762) NULL SH3BP5 9467 genome.wustl.edu 37 3 15298407 15298407 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004844.3 -1 validated p.R368Q 1.000 66 0% 91 28.6% 24 16.6% probably_damaging(0.981) deleterious(0) deleterious(0.870) NULL EAF1 85403 genome.wustl.edu 37 3 15477988 15477988 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033083.6 +1 validated p.P222 0.000 31 0% 24 50% 6 50% - - - NULL COLQ 8292 genome.wustl.edu 37 3 15512078 15512078 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005677.3 -1 reviewed p.G228* 1.000 282 0% 392 37% 0 - - - - HMMPfam_Collagen GALNTL2 117248 genome.wustl.edu 37 3 16237346 16237346 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_054110.4 +1 validated p.L207I 1.000 43 0% 53 32.1% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glycos_transf_2,superfamily_SSF53448 GALNTL2 117248 genome.wustl.edu 37 3 16268865 16268865 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_054110.4 +1 validated p.G593V 1.000 205 0.5% 190 23.2% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ricin_B_lectin,HMMSmart_RICIN,superfamily_RicinB_like OXNAD1 92106 genome.wustl.edu 37 3 16336471 16336471 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138381.2 +1 validated p.T133 0.000 181 0% 235 37.9% 13 30.7% - - - superfamily_Riboflavin_synthase_like_b-brl RFTN1 23180 genome.wustl.edu 37 3 16535268 16535268 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015150.1 -1 validated p.E37* 1.000 145 0% 200 38.5% 11 0% - - - NULL DAZL 1618 genome.wustl.edu 37 3 16640063 16640063 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001351.2 -1 reviewed p.E16* 1.000 476 0% 638 34.8% 0 - - - - superfamily_SSF54928 PLCL2 23228 genome.wustl.edu 37 3 17051946 17051946 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015184.5 +1 validated p.E244* 1.000 69 0% 77 39% 1 0% - - - HMMPfam_efhand_like,superfamily_SSF47473 PLCL2 23228 genome.wustl.edu 37 3 17052240 17052240 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015184.5 +1 validated p.R342W 1.000 199 0% 224 29.9% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PI-PLC-X,HMMSmart_PLCXc,superfamily_PLC-like_Pdiesterase_TIM-brl TBC1D5 9779 genome.wustl.edu 37 3 17255739 17255739 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001134381.1 -1 validated p.R593H 1.000 175 0% 176 21.6% 1 0% benign(0.073) deleterious(0.03) neutral(0.369) NULL TBC1D5 9779 genome.wustl.edu 37 3 17446397 17446397 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001134381.1 -1 validated p.E111 1.000 177 0% 80 26.3% 5 60% - - - HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p KCNH8 131096 genome.wustl.edu 37 3 19295366 19295366 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144633.2 +1 reviewed p.F99L 1.000 99 0% 71 38% 0 - benign(0.135) tolerated(0.41) neutral(0.026) HMMSmart_PAC,HMMPfam_PAS,superfamily_SSF55785 KCNH8 131096 genome.wustl.edu 37 3 19384082 19384082 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144633.2 +1 reviewed p.K149T 1.000 115 0% 74 32.4% 1 0% benign(0) tolerated(0.51) neutral(0.009) NULL KCNH8 131096 genome.wustl.edu 37 3 19575389 19575389 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144633.2 +1 reviewed p.S1041Y 0.992 199 0% 229 37.6% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL EFHB 151651 genome.wustl.edu 37 3 19924193 19924193 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144715.3 -1 validated p.R726Q 0.998 105 0% 178 39.3% 1 0% probably_damaging(1) tolerated(0.16) deleterious(0.559) superfamily_EF-hand SGOL1 151648 genome.wustl.edu 37 3 20225463 20225463 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001012410.2 -1 provisional p.K19 1.000 183 0% 181 32.6% 1 0% - - - NULL THRB 7068 genome.wustl.edu 37 3 24164384 24164384 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000461.4 -1 reviewed p.F459 0.511 166 0% 219 37.4% 0 - - - - superfamily_Nuclear receptor ligand-binding domain RARB 5915 genome.wustl.edu 37 3 25502752 25502752 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000965.3 +1 reviewed p.R76* 1.000 221 0.5% 294 36.4% 1 0% - - - superfamily_SSF57716 TOP2B 7155 genome.wustl.edu 37 3 25648838 25648838 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001068.2 -1 reviewed p.F1369L 1.000 203 0% 257 32.3% 120 42.5% benign(0.001) tolerated(1) - NULL TOP2B 7155 genome.wustl.edu 37 3 25656717 25656717 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001068.2 -1 reviewed p.A1185 1.000 78 0% 58 37.9% 75 40% - - - HMMPfam_DNA_topoisoIV,superfamily_Topo_IIA_cen TOP2B 7155 genome.wustl.edu 37 3 25673951 25673951 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001068.2 -1 reviewed p.K413Q 1.000 117 0% 60 36.7% 26 61.5% possibly_damaging(0.918) deleterious(0.03) deleterious(0.733) HMMSmart_TOP2c,HMMPfam_DNA_gyraseB,superfamily_Ribosomal_S5_D2-typ_fold NGLY1 55768 genome.wustl.edu 37 3 25773875 25773875 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018297.3 -1 reviewed p.E454* 1.000 264 0% 242 32.2% 10 0% - - - superfamily_Cysteine proteinases NGLY1 55768 genome.wustl.edu 37 3 25792643 25792643 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018297.3 -1 reviewed p.E202K 0.994 426 0% 460 33.3% 1 0% probably_damaging(0.999) tolerated(0.1) deleterious(0.777) NULL NGLY1 55768 genome.wustl.edu 37 3 25820156 25820156 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018297.3 -1 reviewed p.R52I 1.000 120 0% 202 31.2% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00580,HMMPfam_PUB OXSM 54995 genome.wustl.edu 37 3 25835918 25835918 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017897.2 +1 reviewed p.F438C 0.764 78 0% 122 39.3% 16 56.2% benign(0) tolerated(0.22) neutral(0.042) superfamily_Thiolase-like NEK10 152110 genome.wustl.edu 37 3 27216186 27216186 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000396636 -1 known p.E882K 0.880 121 0% 114 39.5% 0 - benign(0.086) tolerated(0.25) neutral(0.043) NULL NEK10 152110 genome.wustl.edu 37 3 27346398 27346398 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_199347.2 -1 validated p.Y290H 0.997 120 0% 141 31.2% 0 - possibly_damaging(0.783) tolerated(0.37) neutral(0.312) superfamily_ARM repeat SLC4A7 9497 genome.wustl.edu 37 3 27442266 27442266 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003615.3 -1 validated p.L797I 1.000 327 0% 380 34.2% 0 - possibly_damaging(0.9) tolerated(0.14) deleterious(0.606) HMMPfam_HCO3_cotransp AZI2 64343 genome.wustl.edu 37 3 28380026 28380026 + Silent SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022461.3 -1 validated p.V99 0.997 271 0% 224 37.9% 26 34.6% - - - NULL OSBPL10 114884 genome.wustl.edu 37 3 31871562 31871562 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000429492 -1 known p.S2N 1.000 81 0% 98 40.8% 2 50% - - - NULL GPD1L 23171 genome.wustl.edu 37 3 32207363 32207363 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015141.3 +1 validated p.E339D 0.997 294 0% 474 27.4% 3 33.3% benign(0) tolerated(0.94) - HMMPfam_NAD_Gly3P_dh_C,superfamily_6DGDH_C_like CNOT10 25904 genome.wustl.edu 37 3 32750180 32750180 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015442.1 +1 provisional p.E100* 1.000 210 0% 369 34.1% 5 20% - - - superfamily_TPR-like CCR4 1233 genome.wustl.edu 37 3 32995848 32995848 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005508.4 +1 reviewed p.R312C 0.996 93 0% 145 28.3% 2 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Family A G protein-coupled receptor-like CCR4 1233 genome.wustl.edu 37 3 32995889 32995889 + Silent SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005508.4 +1 reviewed p.L325 0.000 109 0% 145 45.5% 2 50% - - - NULL CRTAP 10491 genome.wustl.edu 37 3 33166020 33166020 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006371.4 +1 reviewed p.E248K 1.000 135 0% 196 37.8% 86 23.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SUSD5 26032 genome.wustl.edu 37 3 33194396 33194396 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015551.1 -1 validated p.I576 0.007 115 0% 185 40.5% 0 - - - - NULL SUSD5 26032 genome.wustl.edu 37 3 33194501 33194501 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015551.1 -1 validated p.F541L 0.802 250 0% 452 34.7% 0 - possibly_damaging(0.792) tolerated(0.47) neutral(0.308) NULL UBP1 7342 genome.wustl.edu 37 3 33444392 33444392 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001128161.1 -1 validated p.S311Y 1.000 116 0% 230 27% 27 40.7% probably_damaging(0.996) deleterious(0.02) deleterious(0.845) NULL CLASP2 23122 genome.wustl.edu 37 3 33580303 33580303 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015097.1 -1 validated p.S1179F 0.999 137 0% 211 28.9% 6 50% possibly_damaging(0.893) tolerated(0.05) deleterious(0.698) superfamily_ARM repeat ARPP21 10777 genome.wustl.edu 37 3 35730853 35730853 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016300.4 +1 validated p.I154T 1.000 154 0% 51 35.3% 0 - benign(0.022) deleterious(0.02) neutral(0.384) HMMSmart_SM00393 ARPP21 10777 genome.wustl.edu 37 3 35758848 35758848 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016300.4 +1 validated p.R332W 1.000 405 0% 269 26.4% 0 - possibly_damaging(0.786) deleterious(0) deleterious(0.739) NULL TRANK1 9881 genome.wustl.edu 37 3 36873755 36873755 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014831.2 -1 provisional p.R1846M 0.606 99 0% 144 34.7% 0 - probably_damaging(0.961) deleterious(0) deleterious(0.849) NULL TRANK1 9881 genome.wustl.edu 37 3 36874624 36874624 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014831.2 -1 provisional p.E1556D 1.000 184 0% 206 31.6% 2 0% benign(0) tolerated(0.39) neutral(0.016) NULL TRANK1 9881 genome.wustl.edu 37 3 36893315 36893315 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014831.2 -1 provisional p.E1000 1.000 95 0% 109 33.9% 1 0% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases TRANK1 9881 genome.wustl.edu 37 3 36896683 36896683 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014831.2 -1 provisional p.Q916H 1.000 51 0% 70 27.1% 1 0% benign(0.409) tolerated(0.51) neutral(0.141) superfamily_P-loop containing nucleoside triphosphate hydrolases TRANK1 9881 genome.wustl.edu 37 3 36915746 36915746 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000429976 -1 known p.D266Y 1.000 170 0% 209 28.2% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat EPM2AIP1 9852 genome.wustl.edu 37 3 37033323 37033323 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014805.3 -1 reviewed p.E416K 0.067 99 0% 117 39.3% 6 66.6% benign(0.081) tolerated(0.95) neutral(0.006) NULL LRRFIP2 9209 genome.wustl.edu 37 3 37107798 37107798 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006309.2 -1 validated p.E495* 1.000 289 0% 411 31.4% 0 - - - - HMMPfam_DUF2051 LRRFIP2 9209 genome.wustl.edu 37 3 37138143 37138143 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006309.2 -1 validated p.E294D 1.000 171 0% 206 32% 14 35.7% probably_damaging(0.975) tolerated(0.19) neutral(0.466) HMMPfam_DUF2051 GOLGA4 2803 genome.wustl.edu 37 3 37367850 37367850 + Missense_Mutation SNP A A C rs57323471 byCluster;byFrequency;by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002078.4 +1 reviewed p.Q1491H 0.030 56 0% 95 33.7% 18 61.1% probably_damaging(0.998) tolerated(0.6) deleterious(0.479) NULL ITGA9 3680 genome.wustl.edu 37 3 37547516 37547516 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002207.2 +1 reviewed p.F256L 1.000 102 0% 156 29.5% 4 25% probably_damaging(0.987) tolerated(0.2) deleterious(0.485) HMMSmart_Int_alpha,superfamily_SSF69318 VILL 50853 genome.wustl.edu 37 3 38043301 38043301 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015873.3 +1 reviewed p.E477K 1.000 115 0% 137 30.7% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00262,HMMPfam_Gelsolin,superfamily_Actin depolymerizing proteins ACAA1 30 genome.wustl.edu 37 3 38164512 38164512 + RNA SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NR_024024.1 -1 reviewed NULL 0.002 54 0% 57 24.6% 90 43.3% - - - - MYD88 4615 genome.wustl.edu 37 3 38181893 38181893 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002468.4 +1 reviewed p.R173C 0.023 76 1.3% 135 34.1% 27 48.1% benign(0.001) tolerated(0.15) neutral(0.241) HMMSmart_SM00255,superfamily_Toll/Interleukin receptor TIR domain SLC22A13 9390 genome.wustl.edu 37 3 38317459 38317459 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004256.3 +1 reviewed p.G370E 1.000 124 0% 162 43.2% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_MFS_1,superfamily_MFS general substrate transporter ACVR2B 93 genome.wustl.edu 37 3 38524664 38524664 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001106.3 +1 reviewed p.C460 1.000 205 0% 327 34.3% 10 70% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase SCN5A 6331 genome.wustl.edu 37 3 38592489 38592489 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001099404.1 -1 reviewed p.D1792N 1.000 103 0% 150 40% 0 - possibly_damaging(0.576) deleterious(0) deleterious(0.642) superfamily_Voltage-gated potassium channels SCN5A 6331 genome.wustl.edu 37 3 38595841 38595841 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001099404.1 -1 reviewed p.A1581D 1.000 198 0% 239 37.7% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN5A 6331 genome.wustl.edu 37 3 38639286 38639286 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001099404.1 -1 reviewed p.L732 1.000 162 0% 188 29.3% 0 - - - - superfamily_Voltage-gated potassium channels SCN5A 6331 genome.wustl.edu 37 3 38663893 38663893 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001099404.1 -1 reviewed p.V160 1.000 139 0% 230 37.4% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN10A 6336 genome.wustl.edu 37 3 38739230 38739230 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006514.2 -1 validated p.E1827D 0.867 132 0% 175 42.9% 0 - benign(0.09) tolerated(0.17) neutral(0.066) NULL SCN10A 6336 genome.wustl.edu 37 3 38739317 38739317 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006514.2 -1 validated p.I1798 1.000 115 0% 161 38.5% 0 - - - - NULL SCN10A 6336 genome.wustl.edu 37 3 38739451 38739451 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006514.2 -1 validated p.E1754* 0.008 123 0% 189 34.4% 0 - - - - NULL SCN10A 6336 genome.wustl.edu 37 3 38739539 38739539 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006514.2 -1 validated p.N1724 1.000 171 0% 286 27.6% 0 - - - - superfamily_SSF81324 SCN10A 6336 genome.wustl.edu 37 3 38755499 38755499 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006514.2 -1 validated p.L1252I 0.995 110 0% 122 27% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Ion_trans,superfamily_SSF81324 SCN11A 11280 genome.wustl.edu 37 3 38904760 38904760 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014139.2 -1 validated p.E1328* 1.000 413 0% 269 30.1% 0 - - - - superfamily_Voltage-gated potassium channels SCN11A 11280 genome.wustl.edu 37 3 38961476 38961476 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014139.2 -1 validated p.K303N 0.818 245 0% 243 28.4% 0 - possibly_damaging(0.903) tolerated(0.56) neutral(0.364) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels TTC21A 199223 genome.wustl.edu 37 3 39162608 39162608 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001105513.2 +1 validated p.Q349K 1.000 265 0% 434 33.2% 3 0% benign(0.138) tolerated(1) neutral(0.011) HMMSmart_SM00028,superfamily_TPR-like CSRNP1 64651 genome.wustl.edu 37 3 39185785 39185785 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033027.3 -1 reviewed p.R208Q 0.971 48 0% 33 36.4% 14 42.8% benign(0) tolerated(0.08) neutral(0.300) NULL CSRNP1 64651 genome.wustl.edu 37 3 39186512 39186512 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033027.3 -1 reviewed p.E147D 1.000 66 0% 80 31.2% 13 7.6% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL XIRP1 165904 genome.wustl.edu 37 3 39228051 39228051 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_194293.2 -1 provisional p.Q962H 0.604 40 0% 41 31.7% 0 - possibly_damaging(0.509) deleterious(0) deleterious(0.615) NULL XIRP1 165904 genome.wustl.edu 37 3 39229169 39229169 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_194293.2 -1 provisional p.D590N 0.603 26 0% 32 34.4% 0 - possibly_damaging(0.882) tolerated(0.11) deleterious(0.616) HMMPfam_Xin XIRP1 165904 genome.wustl.edu 37 3 39229971 39229971 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_194293.2 -1 provisional p.I322 0.164 42 0% 64 32.8% 0 - - - - NULL XIRP1 165904 genome.wustl.edu 37 3 39230665 39230665 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_194293.2 -1 provisional p.V91A 0.998 60 0% 53 37.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Xin SLC25A38 54977 genome.wustl.edu 37 3 39431984 39431984 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017875.2 +1 reviewed p.K88E 1.000 372 0% 620 34.5% 50 36% possibly_damaging(0.759) deleterious(0.01) deleterious(0.687) superfamily_Mitoch_carrier,HMMPfam_Mito_carr SLC25A38 54977 genome.wustl.edu 37 3 39432962 39432962 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017875.2 +1 reviewed p.I103L 0.927 112 0% 199 38.2% 48 37.5% benign(0.002) tolerated(0.97) - superfamily_Mitoch_carrier,HMMPfam_Mito_carr MYRIP 25924 genome.wustl.edu 37 3 39942411 39942411 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015460.2 +1 validated p.R35Q 0.996 89 0% 85 32.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_FYVE_PHD_ZnF MYRIP 25924 genome.wustl.edu 37 3 40192569 40192569 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015460.2 +1 validated p.F121L 1.000 88 0% 78 33.3% 1 0% possibly_damaging(0.8) deleterious(0.02) deleterious(0.684) superfamily_FYVE_PHD_ZnF ENTPD3 956 genome.wustl.edu 37 3 40464345 40464345 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001248.2 +1 validated p.S279Y 0.246 107 0% 148 40.5% 23 30.4% benign(0.009) tolerated(0.47) neutral(0.011) HMMPfam_GDA1_CD39 ENTPD3 956 genome.wustl.edu 37 3 40464870 40464870 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001248.2 +1 validated p.F398S 0.994 147 0% 207 36.7% 26 61.5% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) HMMPfam_GDA1_CD39 ENTPD3 956 genome.wustl.edu 37 3 40465370 40465370 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001248.2 +1 validated p.F423L 1.000 205 0% 282 27.3% 30 40% probably_damaging(0.996) tolerated(0.11) deleterious(0.733) HMMPfam_GDA1_CD39 ZNF619 285267 genome.wustl.edu 37 3 40524129 40524129 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145082.2 +1 validated p.E117* 0.123 187 0% 264 33.7% 6 0% - - - NULL ZNF620 253639 genome.wustl.edu 37 3 40557832 40557832 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_175888.2 +1 validated p.K249N 0.998 81 0% 125 31.2% 1 100% possibly_damaging(0.805) deleterious(0) deleterious(0.748) superfamily_C2H2 and C2HC zinc fingers LOC729505 729505 genome.wustl.edu 37 3 40740759 40740759 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_001130480.3 -1 model p.R74I 0.551 16 0% 19 26.3% 0 - - - - HMMPfam_HMG14_17,HMMSmart_SM00527 CTNNB1 1499 genome.wustl.edu 37 3 41266097 41266097 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001098209.1 +1 reviewed p.D32N 1.000 101 0% 65 32.3% 157 31.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ENSG00000245715 0 genome.wustl.edu 37 3 41266344 41266344 + RNA SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000502197 -1 known NULL 0.000 60 0% 42 31% 0 - - - - - CTNNB1 1499 genome.wustl.edu 37 3 41275192 41275192 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001098209.1 +1 reviewed p.R453Q 1.000 184 0% 176 33% 349 46.4% benign(0.035) tolerated(1) neutral(0.002) HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat ULK4 54986 genome.wustl.edu 37 3 41957545 41957545 + Splice_Site SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017886.2 -1 validated e7-1 0.987 72 0% 107 30.8% 0 - - - - - NKTR 4820 genome.wustl.edu 37 3 42679785 42679785 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005385.3 +1 reviewed p.E863D 0.973 58 0% 56 28.6% 5 60% unknown(0) deleterious(0) - NULL KBTBD5 131377 genome.wustl.edu 37 3 42727289 42727289 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152393.2 +1 validated p.A60V 1.000 34 0% 16 31.2% 0 - probably_damaging(0.973) tolerated(0.06) deleterious(0.738) HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB KBTBD5 131377 genome.wustl.edu 37 3 42727392 42727392 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152393.2 +1 validated p.I94 1.000 53 0% 66 28.8% 0 - - - - HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB KBTBD5 131377 genome.wustl.edu 37 3 42727695 42727695 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152393.2 +1 validated p.F195 0.993 53 0% 58 34.5% 0 - - - - HMMPfam_BACK LOC100287203 100287203 genome.wustl.edu 37 3 42728046 42728046 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002342329.1 -1 model p.E253K 0.394 81 0% 147 39.5% 0 - - - - NULL CCDC13 152206 genome.wustl.edu 37 3 42788795 42788795 + Missense_Mutation SNP C C T rs182436192 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144719.3 -1 validated p.R225Q 1.000 107 0% 112 40.2% 2 50% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) NULL SNRK 54861 genome.wustl.edu 37 3 43344704 43344704 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001100594.1 +1 validated p.G3 0.993 198 0% 250 34.4% 3 0% - - - superfamily_Protein kinase-like (PK-like) ANO10 55129 genome.wustl.edu 37 3 43591253 43591253 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018075.3 -1 validated p.E586* 1.000 188 0% 172 32.6% 36 11.1% - - - HMMPfam_DUF590 ANO10 55129 genome.wustl.edu 37 3 43602832 43602832 + Silent SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018075.3 -1 validated p.P452 0.997 186 0% 387 32.6% 21 4.7% - - - HMMPfam_DUF590 C3orf77 375337 genome.wustl.edu 37 3 44283815 44283815 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145030.1 +1 validated p.S90R 0.001 27 0% 48 29.2% 0 - benign(0.278) tolerated(0.78) neutral(0.031) NULL C3orf77 375337 genome.wustl.edu 37 3 44285904 44285904 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145030.1 +1 validated p.L636V 0.364 48 0% 90 44.4% 0 - possibly_damaging(0.945) deleterious(0) deleterious(0.834) NULL C3orf77 375337 genome.wustl.edu 37 3 44286527 44286527 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145030.1 +1 validated p.K843 0.012 94 0% 108 12% 0 - - - - NULL C3orf77 375337 genome.wustl.edu 37 3 44329300 44329300 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145030.1 +1 validated p.A1217D 1.000 356 0.3% 399 30.1% 0 - probably_damaging(0.962) tolerated(0.22) neutral(0.447) NULL C3orf77 375337 genome.wustl.edu 37 3 44373458 44373458 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145030.1 +1 validated p.E1678 1.000 202 0% 282 32.6% 0 - - - - NULL C3orf23 285343 genome.wustl.edu 37 3 44434423 44434423 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173826.3 +1 validated p.R217C 1.000 126 0% 225 32.4% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL C3orf23 285343 genome.wustl.edu 37 3 44441919 44441919 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173826.3 +1 validated p.L320I 0.991 195 0% 227 32.2% 2 0% benign(0.331) tolerated(0.06) neutral(0.426) NULL ZNF445 353274 genome.wustl.edu 37 3 44488432 44488432 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_181489.5 -1 validated p.L911F 0.086 97 0% 179 34.1% 2 0% probably_damaging(0.961) deleterious(0.04) deleterious(0.753) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF852 285346 genome.wustl.edu 37 3 44541406 44541406 + Missense_Mutation SNP C C T rs186660651 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000436261 -1 known p.R288Q 0.001 42 0% 66 37.9% 6 33.3% possibly_damaging(0.696) tolerated(1) neutral(0.249) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF167 55888 genome.wustl.edu 37 3 44607046 44607046 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018651.2 +1 validated p.E164A 0.012 97 0% 153 34.6% 0 - possibly_damaging(0.778) tolerated(0.11) deleterious(0.562) NULL ZNF167 55888 genome.wustl.edu 37 3 44611810 44611810 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018651.2 +1 validated p.R403I 1.000 57 0% 74 24.3% 1 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF660 285349 genome.wustl.edu 37 3 44636382 44636382 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173658.1 +1 provisional p.L233I 0.672 116 0% 147 36.1% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF197 10168 genome.wustl.edu 37 3 44685051 44685051 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006991.3 +1 reviewed p.R810I 0.930 89 0% 117 31.6% 5 40% probably_damaging(0.999) tolerated(0.07) deleterious(0.809) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF197 10168 genome.wustl.edu 37 3 44685471 44685471 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006991.3 +1 reviewed p.R950I 0.997 73 0% 98 24.5% 3 33.3% probably_damaging(0.999) tolerated(0.1) deleterious(0.777) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF502 91392 genome.wustl.edu 37 3 44763169 44763169 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001134440.1 +1 validated p.R287I 1.000 96 0% 127 28.3% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF502 91392 genome.wustl.edu 37 3 44763325 44763325 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001134440.1 +1 validated p.S339Y 0.001 94 1.1% 125 40% 1 0% unknown(0) tolerated(0.81) - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF501 115560 genome.wustl.edu 37 3 44776190 44776190 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145044.2 +1 validated p.L93I 0.042 151 0% 197 38.1% 1 100% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF501 115560 genome.wustl.edu 37 3 44776458 44776458 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145044.2 +1 validated p.R182I 0.846 204 0% 201 23.4% 2 100% probably_damaging(0.999) tolerated(0.07) deleterious(0.809) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers KIF15 56992 genome.wustl.edu 37 3 44844408 44844408 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020242.2 +1 validated p.E538* 0.998 131 0% 172 25% 1 100% - - - NULL KIF15 56992 genome.wustl.edu 37 3 44846650 44846650 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020242.2 +1 validated p.E607* 1.000 103 0% 149 32.2% 2 0% - - - NULL TGM4 7047 genome.wustl.edu 37 3 44943291 44943291 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003241.3 +1 validated p.R280I 0.895 147 0.7% 220 33.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Transglut_core,HMMSmart_TGc,PatternScan_TRANSGLUTAMINASES,superfamily_SSF54001 CCR9 10803 genome.wustl.edu 37 3 45942530 45942530 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031200.1 +1 reviewed p.D84N 0.999 212 0% 355 38% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like FYCO1 79443 genome.wustl.edu 37 3 46010119 46010119 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024513.2 -1 validated p.R236Q 0.995 97 0% 128 41.4% 2 0% probably_damaging(0.999) tolerated(0.08) deleterious(0.790) NULL FYCO1 79443 genome.wustl.edu 37 3 46016748 46016748 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024513.2 -1 validated p.M126I 1.000 113 0% 231 29% 0 - possibly_damaging(0.891) deleterious(0.03) deleterious(0.715) NULL FYCO1 79443 genome.wustl.edu 37 3 46023064 46023064 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024513.2 -1 validated p.Q54K 1.000 221 0% 258 29.5% 2 50% possibly_damaging(0.94) deleterious(0.05) deleterious(0.730) NULL CCR2 729230 genome.wustl.edu 37 3 46399585 46399585 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001123041.2 +1 validated p.V189 0.460 212 0% 300 34.7% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like CCR5 1234 genome.wustl.edu 37 3 46414416 46414416 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000579.3 +1 reviewed p.P8Q 0.003 111 0% 159 34.6% 1 0% possibly_damaging(0.869) deleterious(0) deleterious(0.782) superfamily_Family A G protein-coupled receptor-like CCR5 1234 genome.wustl.edu 37 3 46414896 46414896 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000579.3 +1 reviewed p.R168I 0.073 75 0% 107 39.3% 2 0% possibly_damaging(0.457) deleterious(0) deleterious(0.595) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like LTF 4057 genome.wustl.edu 37 3 46490365 46490365 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002343.2 -1 reviewed p.A401T 0.002 29 0% 24 20.8% 1 0% benign(0.043) tolerated(0.59) neutral(0.007) HMMPfam_Transferrin,HMMSmart_TR_FER,superfamily_SSF53850 LTF 4057 genome.wustl.edu 37 3 46501154 46501154 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002343.2 -1 reviewed p.A67S 0.987 160 0% 249 34.1% 0 - probably_damaging(0.982) tolerated(0.21) deleterious(0.470) HMMPfam_Transferrin,HMMSmart_TR_FER,superfamily_SSF53850 RTP3 83597 genome.wustl.edu 37 3 46539614 46539614 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031440.1 +1 provisional p.P21L 0.313 113 0% 165 37% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL RTP3 83597 genome.wustl.edu 37 3 46541892 46541892 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031440.1 +1 provisional p.L68M 0.002 78 0% 171 33.9% 0 - benign(0.253) tolerated(0.28) neutral(0.057) NULL LRRC2 79442 genome.wustl.edu 37 3 46563074 46563074 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024512.3 -1 validated p.R335Q 0.823 211 0.5% 291 37.1% 0 - benign(0.003) tolerated(0.36) neutral(0.020) superfamily_SSF52058 LRRC2 79442 genome.wustl.edu 37 3 46574379 46574379 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024512.3 -1 validated p.E171* 1.000 162 0% 185 35.1% 0 - - - - HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52058 ALS2CL 259173 genome.wustl.edu 37 3 46722783 46722783 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_147129.2 -1 validated p.W463* 1.000 53 0% 46 13% 1 0% - - - HMMPfam_MORN,HMMSmart_SM00698,superfamily_Histone H3 K4-specific methyltransferase SET7/9 N-terminal domain NBEAL2 23218 genome.wustl.edu 37 3 47032927 47032927 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015175.1 +1 validated p.S225F 0.757 115 0% 137 32.1% 2 100% possibly_damaging(0.91) deleterious(0) deleterious(0.807) NULL SETD2 29072 genome.wustl.edu 37 3 47125724 47125724 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014159.6 -1 reviewed p.S1849L 1.000 121 0% 180 31.7% 14 42.8% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL SETD2 29072 genome.wustl.edu 37 3 47163575 47163575 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014159.6 -1 reviewed p.E851* 0.998 58 0% 95 30.5% 3 33.3% - - - NULL PTPN23 25930 genome.wustl.edu 37 3 47437678 47437678 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015466.2 +1 validated p.E44* 1.000 247 0% 493 30% 15 53.3% - - - HMMPfam_BRO1 PTPN23 25930 genome.wustl.edu 37 3 47450422 47450422 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015466.2 +1 validated p.R496Q 1.000 47 0% 111 35.1% 32 43.7% probably_damaging(0.964) deleterious(0.04) deleterious(0.755) NULL PTPN23 25930 genome.wustl.edu 37 3 47450928 47450928 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015466.2 +1 validated p.K607E 1.000 49 0% 66 25.8% 43 23.2% probably_damaging(0.998) tolerated(0.11) deleterious(0.746) NULL SCAP 22937 genome.wustl.edu 37 3 47460159 47460159 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000383739 -1 known p.R230C 0.733 19 0% 11 36.4% 49 40.8% unknown(0) - - NULL SCAP 22937 genome.wustl.edu 37 3 47467094 47467094 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012235.2 -1 reviewed p.I306 1.000 33 0% 59 39% 42 38% - - - superfamily_Multidrug efflux transporter AcrB transmembrane domain SMARCC1 6599 genome.wustl.edu 37 3 47676796 47676796 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003074.3 -1 validated p.T844A 0.030 340 0% 535 32.7% 58 58.6% benign(0.003) tolerated(0.91) - NULL MAP4 4134 genome.wustl.edu 37 3 47951664 47951664 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030884.3 -1 reviewed p.F23C 0.998 84 0% 127 34.6% 0 - probably_damaging(0.964) deleterious(0) deleterious(0.851) NULL MAP4 4134 genome.wustl.edu 37 3 48040233 48040233 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002375.4 -1 reviewed p.E40* 1.000 227 0% 349 33% 21 28.5% - - - NULL ZNF589 51385 genome.wustl.edu 37 3 48309760 48309760 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016089.2 +1 validated p.Q193 0.007 54 0% 132 30.3% 5 80% - - - NULL MIR2115 100313840 genome.wustl.edu 37 3 48357859 48357859 + RNA SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000516657 -1 known NULL 0.439 76 0% 105 24.8% 0 - - - - - PLXNB1 5364 genome.wustl.edu 37 3 48450833 48450833 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001130082.1 -1 validated p.F1997 0.987 81 0% 108 32.4% 98 27.5% - - - superfamily_GTPase activation domain GAP,HMMPfam_Plexin_cytopl SHISA5 51246 genome.wustl.edu 37 3 48538614 48538614 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016479.3 -1 validated p.K63N 0.411 131 0% 328 27.1% 45 35.5% possibly_damaging(0.707) deleterious(0.02) deleterious(0.638) NULL COL7A1 1294 genome.wustl.edu 37 3 48605581 48605581 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000094.3 -1 reviewed p.V2606A 0.651 111 0% 144 13.9% 6 0% unknown(0) tolerated(0.95) - HMMPfam_Collagen COL7A1 1294 genome.wustl.edu 37 3 48612269 48612269 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000094.3 -1 reviewed p.L2103 0.000 50 0% 70 37.1% 2 0% - - - NULL COL7A1 1294 genome.wustl.edu 37 3 48619784 48619784 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000094.3 -1 reviewed p.P1536H 0.999 123 0% 176 37.5% 1 0% probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL SLC26A6 65010 genome.wustl.edu 37 3 48665454 48665454 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022911.2 -1 reviewed p.G606 0.008 126 0% 176 27.8% 21 38% - - - HMMPfam_STAS,superfamily_Anti-sigma factor antagonist SpoIIaa CELSR3 1951 genome.wustl.edu 37 3 48696665 48696665 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001407.2 -1 reviewed p.R1135C 0.999 121 0% 226 32.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like IP6K2 51447 genome.wustl.edu 37 3 48725766 48725766 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005909.1 -1 reviewed p.I407 1.000 91 0% 138 29.7% 160 38.7% - - - HMMPfam_IPK,superfamily_SAICAR synthase-like IP6K2 51447 genome.wustl.edu 37 3 48725985 48725985 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005909.1 -1 reviewed p.I334M 1.000 75 0% 116 38.8% 131 50.3% probably_damaging(0.998) tolerated(0.06) deleterious(0.797) HMMPfam_IPK,superfamily_SAICAR synthase-like IP6K2 51447 genome.wustl.edu 37 3 48731673 48731673 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005910.1 -1 reviewed p.G68V 1.000 73 0% 129 27.1% 28 7.1% probably_damaging(0.98) deleterious(0) deleterious(0.869) superfamily_SSF56104 ENSG00000232483 0 genome.wustl.edu 37 3 48731869 48731869 + RNA SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000421921 +1 novel NULL 0.000 93 0% 123 40.7% 1 0% - - - - PRKAR2A 5576 genome.wustl.edu 37 3 48828006 48828006 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004157.2 -1 reviewed p.D136Y 1.000 97 0% 146 33.6% 4 50% possibly_damaging(0.877) deleterious(0.01) deleterious(0.747) superfamily_cNMP_binding WDR6 11180 genome.wustl.edu 37 3 49050174 49050174 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018031.3 +1 reviewed p.E433K 0.083 54 0% 80 32.5% 50 38% benign(0.258) tolerated(0.33) neutral(0.051) superfamily_WD40 repeat-like QARS 5859 genome.wustl.edu 37 3 49135487 49135487 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005051.1 -1 reviewed p.D739N 0.977 112 0% 248 33.5% 357 33% benign(0.002) tolerated(0.05) neutral(0.345) superfamily_Ribosomal_L25rel,HMMPfam_tRNA-synt_1c_C QARS 5859 genome.wustl.edu 37 3 49137816 49137816 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005051.1 -1 reviewed p.R351H 0.993 81 0% 118 44.9% 158 39.8% benign(0.001) tolerated(0.11) neutral(0.272) HMMPfam_tRNA-synt_1c,superfamily_SSF52374 USP19 10869 genome.wustl.edu 37 3 49152923 49152923 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006677.1 -1 provisional p.V511 1.000 91 0% 149 36.9% 26 42.3% - - - HMMPfam_UCH,PatternScan_UCH_2_1,superfamily_Cysteine proteinases KLHDC8B 200942 genome.wustl.edu 37 3 49212205 49212205 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173546.1 +1 provisional p.A191D 1.000 46 0% 34 41.2% 23 17.3% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Kelch_1,HMMSmart_Kelch,superfamily_Gal_oxid_central CCDC36 339834 genome.wustl.edu 37 3 49293755 49293755 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001135197.1 +1 validated p.P275 0.011 36 0% 101 24.8% 0 - - - - NULL C3orf62 375341 genome.wustl.edu 37 3 49308863 49308863 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198562.2 -1 validated p.R185Q 1.000 73 0% 107 34.6% 7 14.2% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL DAG1 1605 genome.wustl.edu 37 3 49569219 49569219 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004393.4 +1 reviewed p.K425N 1.000 139 0% 268 35.1% 41 46.3% possibly_damaging(0.918) deleterious(0.03) deleterious(0.733) HMMPfam_DAG1 DAG1 1605 genome.wustl.edu 37 3 49570351 49570351 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004393.4 +1 reviewed p.E803K 1.000 31 0% 52 36.5% 63 46% possibly_damaging(0.666) deleterious(0) deleterious(0.680) HMMPfam_DAG1 BSN 8927 genome.wustl.edu 37 3 49695207 49695207 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003458.3 +1 reviewed p.I2740V 1.000 24 0% 41 26.8% 0 - unknown(0) - - NULL BSN 8927 genome.wustl.edu 37 3 49698244 49698244 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003458.3 +1 reviewed p.S2989Y 0.999 28 0% 30 26.7% 0 - unknown(0) - - NULL MST1 4485 genome.wustl.edu 37 3 49725085 49725085 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020998.3 -1 reviewed p.V87M 0.006 102 0% 127 31.5% 3 33.3% benign(0.001) tolerated(0.22) neutral(0.042) HMMPfam_PAN_1,HMMSmart_SM00473,superfamily_Hairpin loop containing domain-like RNF123 63891 genome.wustl.edu 37 3 49728901 49728901 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022064.2 +1 reviewed p.I42 1.000 99 0% 120 34.2% 10 50% - - - NULL RNF123 63891 genome.wustl.edu 37 3 49739803 49739803 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022064.2 +1 reviewed p.R532C 1.000 67 0% 82 26.8% 19 31.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL RNF123 63891 genome.wustl.edu 37 3 49758725 49758725 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022064.2 +1 reviewed p.S1311F 1.000 103 0% 148 28.4% 89 41.5% benign(0.113) deleterious(0) neutral(0.454) NULL CDHR4 389118 genome.wustl.edu 37 3 49831367 49831367 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001007540.2 -1 provisional p.R451L 0.020 68 0% 110 29.1% 0 - benign(0.32) deleterious(0.03) neutral(0.465) HMMPfam_Cadherin,superfamily_Cadherin-like UBA7 7318 genome.wustl.edu 37 3 49851200 49851200 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003335.2 -1 reviewed p.S7 0.000 87 0% 195 29.7% 4 0% - - - NULL TRAIP 10293 genome.wustl.edu 37 3 49877282 49877282 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005879.2 -1 reviewed p.K269N 1.000 169 0% 341 30.5% 12 33.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL TRAIP 10293 genome.wustl.edu 37 3 49885612 49885612 + Silent SNP T T A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005879.2 -1 reviewed p.T40 1.000 104 0% 214 35% 1 100% - - - HMMSmart_RING,HMMPfam_zf-C3HC4,superfamily_SSF57850 CAMKV 79012 genome.wustl.edu 37 3 49899480 49899480 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024046.3 -1 validated p.K75N 1.000 155 0% 205 30.7% 0 - benign(0.36) deleterious(0.01) deleterious(0.520) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase CAMKV 79012 genome.wustl.edu 37 3 49899786 49899786 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024046.3 -1 validated p.K12N 1.000 100 0% 151 31.8% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_Protein kinase-like (PK-like) MON1A 84315 genome.wustl.edu 37 3 49949095 49949095 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032355.3 -1 validated p.F256 0.751 36 0% 48 39.6% 9 22.2% - - - HMMPfam_Mon1 RBM6 10180 genome.wustl.edu 37 3 50114528 50114528 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005777.2 +1 validated p.R1112* 0.997 89 0% 149 36.9% 88 34% - - - NULL SEMA3F 6405 genome.wustl.edu 37 3 50211254 50211254 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004186.3 +1 validated p.F47L 1.000 147 0% 260 36.2% 17 0% benign(0.124) tolerated(0.65) neutral(0.013) superfamily_Sema SEMA3F 6405 genome.wustl.edu 37 3 50220864 50220864 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004186.3 +1 validated p.R367Q 1.000 76 0% 103 41.7% 13 23% possibly_damaging(0.719) tolerated(0.34) neutral(0.284) HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema HYAL3 8372 genome.wustl.edu 37 3 50332246 50332246 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003549.2 -1 reviewed p.R263H 1.000 36 0% 91 42.9% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glyco_hydro_56,superfamily_(Trans)glycosidases NPRL2 10641 genome.wustl.edu 37 3 50387221 50387221 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006545.4 -1 validated p.E72K 1.000 114 0% 178 34.8% 19 31.5% unknown(0) - - HMMPfam_NPR2 TMEM115 11070 genome.wustl.edu 37 3 50395882 50395882 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007024.4 -1 validated p.L205I 1.000 46 0% 76 43.4% 53 32% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL DOCK3 1795 genome.wustl.edu 37 3 51264731 51264731 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004947.3 +1 validated p.G465 1.000 165 0% 191 26.7% 0 - - - - NULL DOCK3 1795 genome.wustl.edu 37 3 51308434 51308434 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004947.3 +1 validated p.F848L 1.000 165 0% 264 31.8% 0 - benign(0.221) tolerated(0.82) neutral(0.022) NULL ENSG00000250864 0 genome.wustl.edu 37 3 51431542 51431542 + RNA SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000506856 -1 novel NULL 0.962 38 0% 54 38.9% 112 44.6% - - - - VPRBP 9730 genome.wustl.edu 37 3 51450751 51450751 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014703.2 -1 validated p.D1288Y 1.000 188 0% 285 22.8% 12 16.6% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_WD40 repeat-like VPRBP 9730 genome.wustl.edu 37 3 51456331 51456331 + Splice_Site SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014703.2 -1 validated e13-1 1.000 51 0% 84 34.5% 0 - - - - - RAD54L2 23132 genome.wustl.edu 37 3 51669792 51669792 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000432863 +1 known p.G271* 1.000 145 0% 219 16.9% 7 57.1% possibly_damaging(0.945) deleterious(0.02) deleterious(0.772) HMMPfam_SNF2_N,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases RAD54L2 23132 genome.wustl.edu 37 3 51672266 51672266 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015106.2 +1 validated p.R597C 1.000 138 0% 267 34.5% 3 100% possibly_damaging(0.44) deleterious(0.05) deleterious(0.489) HMMPfam_SNF2_N RAD54L2 23132 genome.wustl.edu 37 3 51673996 51673996 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015106.2 +1 validated p.D738N 1.000 89 0% 120 29.2% 3 33.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_P-loop containing nucleoside triphosphate hydrolases IQCF3 401067 genome.wustl.edu 37 3 51864500 51864500 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001085479.1 +1 provisional p.R50C 0.908 92 0% 128 33.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_IQ,HMMSmart_SM00015,superfamily_P-loop containing nucleoside triphosphate hydrolases IQCF1 132141 genome.wustl.edu 37 3 51930906 51930906 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152397.2 -1 validated p.K38T 0.012 279 0% 522 33% 0 - benign(0.033) tolerated(0.06) neutral(0.324) NULL RRP9 9136 genome.wustl.edu 37 3 51970561 51970561 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004704.3 -1 provisional p.E176 1.000 46 0% 45 33.3% 70 48.5% - - - superfamily_WD40 repeat-like PARP3 10039 genome.wustl.edu 37 3 51978146 51978146 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001003931.2 +1 reviewed p.I82 0.259 74 0% 160 36.2% 1 0% - - - HMMPfam_WGR,HMMSmart_WGR RPL29 6159 genome.wustl.edu 37 3 52029107 52029107 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000992.2 -1 reviewed p.R18K 1.000 155 0% 347 32.6% 1542 42.6% probably_damaging(0.995) deleterious(0.04) deleterious(0.806) HMMPfam_Ribosomal_L29e ALAS1 211 genome.wustl.edu 37 3 52248037 52248037 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000688.4 +1 validated p.E588D 1.000 71 0% 140 33.6% 46 41.3% benign(0) tolerated(0.61) neutral(0.004) HMMPfam_Aminotran_1_2,superfamily_PLP-dependent transferases TLR9 54106 genome.wustl.edu 37 3 52256579 52256579 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017442.2 -1 reviewed p.N585D 1.000 36 0% 49 22.4% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00369,HMMSmart_SM00365,superfamily_L domain-like TLR9 54106 genome.wustl.edu 37 3 52257805 52257805 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017442.2 -1 reviewed p.G176D 0.991 80 0% 219 30.6% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_L domain-like DNAH1 25981 genome.wustl.edu 37 3 52395717 52395717 + Missense_Mutation SNP G G A rs140409219 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015512.4 +1 validated p.D1639N 0.999 67 0% 86 39.5% 0 - possibly_damaging(0.652) tolerated(0.72) neutral(0.231) superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH1 25981 genome.wustl.edu 37 3 52425028 52425028 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015512.4 +1 validated p.F3233L 1.000 63 0% 76 28.9% 2 0% benign(0.002) tolerated(0.92) - NULL DNAH1 25981 genome.wustl.edu 37 3 52427469 52427469 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015512.4 +1 validated p.R3532C 1.000 87 0% 163 31.3% 4 50% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL BAP1 8314 genome.wustl.edu 37 3 52437235 52437235 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004656.2 -1 reviewed p.V603 0.000 142 0% 235 37% 53 35.8% - - - NULL BAP1 8314 genome.wustl.edu 37 3 52443599 52443599 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004656.2 -1 reviewed p.E31D 1.000 152 0% 325 34.8% 19 31.5% benign(0.181) deleterious(0) neutral(0.461) HMMPfam_Peptidase_C12,superfamily_Cysteine proteinases SEMA3G 56920 genome.wustl.edu 37 3 52476312 52476312 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020163.1 -1 provisional p.C116 0.961 38 0% 88 33% 0 - unknown(0) - - HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema STAB1 23166 genome.wustl.edu 37 3 52543313 52543313 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015136.2 +1 reviewed p.K775Q 1.000 75 0% 116 31.9% 0 - probably_damaging(1) deleterious(0.05) deleterious(0.845) NULL STAB1 23166 genome.wustl.edu 37 3 52554134 52554134 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015136.2 +1 reviewed p.E1804K 0.926 93 0% 112 33.9% 11 0% benign(0.006) tolerated(1) - HMMPfam_Fasciclin,HMMSmart_SM00554,superfamily_FAS1 domain NT5DC2 64943 genome.wustl.edu 37 3 52563192 52563192 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001134231.1 -1 validated p.R131C 1.000 248 0% 477 31.7% 330 46.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL ITIH4 3700 genome.wustl.edu 37 3 52863281 52863281 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002218.4 -1 reviewed p.I35 1.000 83 0% 184 36.4% 2 50% - - - HMMSmart_SM00609,HMMPfam_VIT CACNA2D3 55799 genome.wustl.edu 37 3 54905603 54905603 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018398.2 +1 reviewed p.S555N 1.000 329 0% 568 29.9% 1 100% benign(0.01) tolerated(1) neutral(0.001) NULL ERC2 26059 genome.wustl.edu 37 3 56041334 56041334 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015576.1 -1 validated p.L646F 1.000 270 0% 144 36.1% 0 - probably_damaging(0.987) tolerated(0.16) deleterious(0.496) superfamily_Prefoldin,HMMPfam_Cast ERC2 26059 genome.wustl.edu 37 3 56044586 56044586 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015576.1 -1 validated p.R604Q 1.000 405 0% 336 31.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Prefoldin,HMMPfam_Cast ERC2 26059 genome.wustl.edu 37 3 56330338 56330338 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015576.1 -1 validated p.E261D 1.000 314 0% 406 31.5% 0 - benign(0.014) tolerated(0.21) neutral(0.044) HMMPfam_Cast ERC2 26059 genome.wustl.edu 37 3 56468869 56468869 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015576.1 -1 validated p.Y56C 1.000 189 0% 217 34.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL CCDC66 285331 genome.wustl.edu 37 3 56649299 56649299 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001141947.1 +1 validated p.G570 0.469 121 0% 261 33.7% 6 33.3% - - - NULL CCDC66 285331 genome.wustl.edu 37 3 56651188 56651188 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001141947.1 +1 validated p.S631* 0.033 79 0% 144 35.4% 5 40% - - - NULL CCDC66 285331 genome.wustl.edu 37 3 56653485 56653485 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001141947.1 +1 validated p.I855 0.995 105 0% 158 35.4% 11 27.2% - - - NULL FAM208A 23272 genome.wustl.edu 37 3 56667651 56667651 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001112736.1 -1 validated p.E1056D 1.000 205 0% 335 28.1% 8 25% probably_damaging(0.971) tolerated(0.45) neutral(0.425) NULL IL17RD 54756 genome.wustl.edu 37 3 57132009 57132009 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017563.3 -1 validated p.Y574* 0.982 103 0% 216 35.2% 6 50% - - - NULL HESX1 8820 genome.wustl.edu 37 3 57232324 57232324 + Splice_Site SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003865.2 -1 reviewed e4-1 1.000 140 0% 184 37% 0 - - - - - APPL1 26060 genome.wustl.edu 37 3 57294659 57294659 + Missense_Mutation SNP C C A rs76731092 TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012096.2 +1 reviewed p.P567T 1.000 176 0% 258 26.4% 9 33.3% possibly_damaging(0.823) tolerated(0.06) deleterious(0.634) HMMPfam_PID,superfamily_SSF50729 DNAH12 201625 genome.wustl.edu 37 3 57321943 57321943 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000295941 -1 known p.S2536Y 1.000 130 0% 186 39.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat DNAH12 201625 genome.wustl.edu 37 3 57330965 57330965 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178504.4 -1 validated p.F2946L 1.000 198 0% 306 35% 0 - possibly_damaging(0.946) deleterious(0.02) deleterious(0.773) HMMPfam_Dynein_heavy DNAH12 201625 genome.wustl.edu 37 3 57344881 57344881 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178504.4 -1 validated p.R2719K 1.000 191 0% 205 34.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Dynein_heavy DNAH12 201625 genome.wustl.edu 37 3 57386222 57386222 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178504.4 -1 validated p.R2321* 0.999 177 0% 227 27.8% 0 - - - - NULL DNAH12 201625 genome.wustl.edu 37 3 57399577 57399577 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178504.4 -1 validated p.K1953N 1.000 155 0% 146 34.9% 0 - possibly_damaging(0.896) deleterious(0.01) deleterious(0.759) HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH12 201625 genome.wustl.edu 37 3 57419201 57419201 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178504.4 -1 validated p.E1602* 1.000 211 0% 289 29.8% 0 - - - - HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH12 201625 genome.wustl.edu 37 3 57419433 57419433 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178504.4 -1 validated p.V1570A 1.000 269 0% 366 25.7% 0 - possibly_damaging(0.917) deleterious(0) deleterious(0.812) HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH12 201625 genome.wustl.edu 37 3 57431074 57431074 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178504.4 -1 validated p.G1395R 1.000 71 0% 121 34.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH12 201625 genome.wustl.edu 37 3 57487127 57487127 + Missense_Mutation SNP T T A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178504.4 -1 validated p.N419I 1.000 54 0% 72 31.9% 0 - possibly_damaging(0.7) tolerated(0.21) neutral(0.295) NULL DNAH12 201625 genome.wustl.edu 37 3 57489844 57489844 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178504.4 -1 validated p.E329* 1.000 143 0% 250 35.2% 0 - - - - NULL DNAH12 201625 genome.wustl.edu 37 3 57494218 57494218 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178504.4 -1 validated p.N198H 0.996 68 0% 112 43.8% 0 - benign(0.077) tolerated(0.19) neutral(0.055) NULL DNAH12 201625 genome.wustl.edu 37 3 57496583 57496583 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178504.4 -1 validated p.E135* 0.289 151 0% 253 30.4% 0 - - - - NULL ARF4 378 genome.wustl.edu 37 3 57561286 57561286 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001660.3 -1 reviewed p.R149C 1.000 125 0% 233 28.8% 526 41% probably_damaging(0.979) deleterious(0) deleterious(0.867) HMMSmart_SM00175,HMMSmart_SM00178,HMMSmart_SM00177,HMMPfam_Arf,superfamily_P-loop containing nucleoside triphosphate hydrolases SLMAP 7871 genome.wustl.edu 37 3 57894833 57894833 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007159.2 +1 validated p.R518Q 0.947 113 0% 164 32.3% 12 41.6% possibly_damaging(0.674) tolerated(0.28) neutral(0.271) NULL FLNB 2317 genome.wustl.edu 37 3 58089715 58089715 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001457.3 +1 reviewed p.D505Y 0.994 78 0% 136 27.2% 2 50% possibly_damaging(0.583) deleterious(0.01) deleterious(0.606) HMMSmart_IG_FLMN,superfamily_Ig_E-set,HMMPfam_Filamin FLNB 2317 genome.wustl.edu 37 3 58094922 58094922 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001457.3 +1 reviewed p.R691H 0.999 61 0% 114 33.3% 7 42.8% possibly_damaging(0.838) deleterious(0.02) deleterious(0.703) HMMSmart_IG_FLMN,superfamily_Ig_E-set,HMMPfam_Filamin RPP14 11102 genome.wustl.edu 37 3 58296085 58296085 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001098783.2 +1 validated p.R10I 0.975 133 0% 278 34.5% 2 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL PXK 54899 genome.wustl.edu 37 3 58381411 58381411 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017771.3 +1 provisional p.K249N 1.000 146 0% 207 31.9% 5 40% probably_damaging(0.996) tolerated(0.08) deleterious(0.762) superfamily_Protein kinase-like (PK-like) PDHB 5162 genome.wustl.edu 37 3 58417332 58417332 + Silent SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000925.3 -1 reviewed p.V97 0.858 75 0% 136 23.5% 58 44.8% - - - HMMPfam_Transket_pyr,superfamily_Thiamin diphosphate-binding fold (THDP-binding) C3orf67 200844 genome.wustl.edu 37 3 58849361 58849361 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198463.2 -1 validated p.L381I 0.998 198 0% 260 30.4% 0 - possibly_damaging(0.923) tolerated(0.46) neutral(0.385) NULL PTPRG 5793 genome.wustl.edu 37 3 62267274 62267274 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002841.3 +1 reviewed p.E1268K 1.000 76 0% 47 34% 13 23% possibly_damaging(0.559) tolerated(0.13) neutral(0.443) HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II CADPS 8618 genome.wustl.edu 37 3 62451054 62451054 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003716.3 -1 reviewed p.F1208L 1.000 176 0% 169 29.6% 0 - benign(0.038) tolerated(0.14) neutral(0.252) NULL CADPS 8618 genome.wustl.edu 37 3 62556561 62556561 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003716.3 -1 reviewed p.F544V 1.000 227 0% 319 28.5% 0 - probably_damaging(0.998) tolerated(0.09) deleterious(0.771) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like SNTN 132203 genome.wustl.edu 37 3 63645494 63645494 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080537.1 +1 provisional p.A80V 0.969 228 0% 181 30.4% 0 - possibly_damaging(0.477) deleterious(0) deleterious(0.602) superfamily_SSF47473 THOC7 80145 genome.wustl.edu 37 3 63825392 63825392 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000469153 -1 known p.E20* 1.000 85 0% 124 33.1% 17 11.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_THOC7 ADAMTS9 56999 genome.wustl.edu 37 3 64599125 64599125 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182920.1 -1 reviewed p.D1084Y 1.000 110 0% 110 20% 2 50% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat ADAMTS9 56999 genome.wustl.edu 37 3 64606904 64606904 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182920.1 -1 reviewed p.R900Q 1.000 129 0% 90 35.6% 4 25% probably_damaging(0.99) tolerated(0.29) deleterious(0.471) HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat MAGI1 9223 genome.wustl.edu 37 3 65376999 65376999 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001033057.1 -1 reviewed p.S745Y 1.000 255 0% 254 35.8% 3 33.3% possibly_damaging(0.942) deleterious(0.04) deleterious(0.736) NULL LRIG1 26018 genome.wustl.edu 37 3 66432017 66432017 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015541.2 -1 validated p.D886N 0.014 148 0.7% 167 31.7% 12 33.3% benign(0.177) deleterious(0.04) neutral(0.365) NULL LRIG1 26018 genome.wustl.edu 37 3 66436565 66436565 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015541.2 -1 validated p.E543 1.000 219 0% 210 57.1% 9 44.4% - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin KBTBD8 84541 genome.wustl.edu 37 3 67054001 67054001 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032505.2 +1 validated p.D178N 1.000 126 0% 150 30% 0 - possibly_damaging(0.477) tolerated(0.54) neutral(0.165) HMMPfam_BACK SUCLG2 8801 genome.wustl.edu 37 3 67451240 67451240 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000460567 -1 known p.R124C 0.133 87 0% 100 20% 18 22.2% - - - HMMPfam_Ligase_CoA,superfamily_Succinyl-CoA synthetase domains FAM19A1 407738 genome.wustl.edu 37 3 68466534 68466534 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_213609.2 +1 reviewed p.A75T 1.000 162 0% 170 30.6% 0 - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL C3orf64 285203 genome.wustl.edu 37 3 69027534 69027534 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173654.1 -1 provisional p.V379I 0.009 155 0% 242 33.1% 8 12.5% benign(0.001) tolerated(0.29) neutral(0.029) NULL FRMD4B 23150 genome.wustl.edu 37 3 69230575 69230575 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015123.1 -1 validated p.S776P 1.000 130 0% 221 33% 7 28.5% probably_damaging(0.955) tolerated(0.17) neutral(0.458) NULL FOXP1 27086 genome.wustl.edu 37 3 71021322 71021322 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000327590 -1 known p.F554 1.000 5 0.000 9 0.444 0 - - - - "superfamily_""Winged helix"" DNA-binding domain" FOXP1 27086 genome.wustl.edu 37 3 71026850 71026850 + Missense_Mutation SNP A A T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032682.4 -1 reviewed p.F458I 1.000 301 0% 374 32.1% 8 12.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL RYBP 23429 genome.wustl.edu 37 3 72428507 72428507 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012234.4 -1 validated p.K67T 1.000 416 0.2% 448 32.1% 6 33.3% unknown(0) tolerated(0.08) - NULL RYBP 23429 genome.wustl.edu 37 3 72495812 72495812 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000477973 -1 known p.A86 0.000 152 0% 196 30.1% 0 - unknown(0) - - NULL GXYLT2 727936 genome.wustl.edu 37 3 72957696 72957696 + Missense_Mutation SNP G G A rs142024018 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080393.1 +1 provisional p.E152K 0.998 101 0% 120 34.2% 4 75% benign(0.054) tolerated(0.88) neutral(0.004) HMMPfam_Glyco_transf_8,superfamily_SSF53448 PPP4R2 151987 genome.wustl.edu 37 3 73112849 73112849 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_174907.2 +1 provisional p.R149* 0.997 208 0% 219 31.5% 4 0% - - - HMMPfam_PPP4R2 PDZRN3 23024 genome.wustl.edu 37 3 73657761 73657761 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015009.1 -1 provisional p.G266 1.000 110 0% 127 26% 4 0% - - - HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like ROBO2 6092 genome.wustl.edu 37 3 77530308 77530308 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001128929.1 +1 reviewed p.Y182* 0.996 244 0% 224 27.7% 3 33.3% possibly_damaging(0.916) deleterious(0.03) deleterious(0.732) NULL ROBO1 6091 genome.wustl.edu 37 3 78649334 78649334 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002941.3 -1 reviewed p.R1624* 1.000 424 0.2% 500 31% 7 0% - - - NULL CADM2 253559 genome.wustl.edu 37 3 86010619 86010619 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153184.3 +1 validated p.L257 1.000 177 0.6% 96 31.2% 0 - - - - HMMSmart_IGc2,HMMPfam_ig,superfamily_SSF48726 CGGBP1 8545 genome.wustl.edu 37 3 88104967 88104967 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001008390.1 -1 validated p.R54C 1.000 82 0% 101 39.6% 36 38.8% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL EPHA3 2042 genome.wustl.edu 37 3 89528650 89528650 + Nonstop_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005233.5 +1 reviewed p.*984Q 1.000 63 0% 88 28.4% 4 25% - - - NULL PROS1 5627 genome.wustl.edu 37 3 93603584 93603584 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000313.3 -1 reviewed p.H494N 0.012 217 0% 263 20.5% 25 20% benign(0) tolerated(1) - superfamily_ConA_like_lec_gl EPHA6 285220 genome.wustl.edu 37 3 97466357 97466357 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080448.2 +1 provisional p.K1073N 1.000 322 0.3% 322 25.5% 0 - benign(0.189) tolerated(0.05) neutral(0.363) HMMPfam_SAM_1,HMMSmart_SM00454,superfamily_SAM/Pointed domain ARL6 84100 genome.wustl.edu 37 3 97486993 97486993 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032146.3 +1 reviewed p.K14N 1.000 222 0% 274 34.7% 4 75% possibly_damaging(0.92) tolerated(0.06) deleterious(0.694) HMMSmart_SM00178,HMMSmart_SM00177,HMMPfam_Arf,superfamily_P-loop containing nucleoside triphosphate hydrolases ARL6 84100 genome.wustl.edu 37 3 97499058 97499058 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032146.3 +1 reviewed p.S60* 0.998 162 0% 191 28.8% 2 0% - - - HMMSmart_SM00178,HMMSmart_SM00177,HMMPfam_Arf,superfamily_P-loop containing nucleoside triphosphate hydrolases ARL6 84100 genome.wustl.edu 37 3 97503872 97503872 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032146.3 +1 reviewed p.D110N 1.000 377 0% 412 34.5% 5 40% benign(0.33) tolerated(0.08) neutral(0.403) HMMSmart_SM00178,HMMSmart_SM00177,HMMPfam_Arf,superfamily_P-loop containing nucleoside triphosphate hydrolases CRYBG3 131544 genome.wustl.edu 37 3 97596403 97596403 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153605.2 +1 validated p.S174Y 1.000 64 0% 72 12.5% 3 66.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CRYBG3 131544 genome.wustl.edu 37 3 97596701 97596701 + Missense_Mutation SNP G G T rs140793528 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153605.2 +1 validated p.Q273H 0.993 182 0% 166 30.7% 1 100% possibly_damaging(0.822) deleterious(0) deleterious(0.756) NULL GABRR3 200959 genome.wustl.edu 37 3 97705641 97705641 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000329044 -1 known p.G202 0.028 300 0% 270 30.7% 0 - - - - HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore OR5AC2 81050 genome.wustl.edu 37 3 97806055 97806055 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_054106.1 +1 provisional p.E13 0.056 326 0% 408 34.3% 0 - - - - superfamily_SSF81321 OR5H14 403273 genome.wustl.edu 37 3 97869040 97869040 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005514.1 +1 provisional p.D271Y 0.001 237 0% 140 25% 0 - probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR5H15 403274 genome.wustl.edu 37 3 97887635 97887635 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005515.1 +1 provisional p.F31C 0.961 243 0% 181 32% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_SSF81321 OR5H2 79310 genome.wustl.edu 37 3 98002024 98002024 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005482.1 +1 provisional p.S98Y 0.297 238 0% 219 33.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_7tm_1,superfamily_SSF81321 OR5K3 403277 genome.wustl.edu 37 3 98110222 98110222 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005516.1 +1 provisional p.T238I 0.996 306 0% 382 33.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 OR5K1 26339 genome.wustl.edu 37 3 98188730 98188730 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004736.2 +1 provisional p.L104I 0.860 278 0.4% 158 29.1% 0 - probably_damaging(0.973) deleterious(0.01) deleterious(0.821) HMMPfam_7tm_1,superfamily_SSF81321 OR5K2 402135 genome.wustl.edu 37 3 98217119 98217119 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004737.1 +1 provisional p.L199I 0.000 449 0% 333 35.7% 0 - benign(0.007) tolerated(0.49) neutral(0.011) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like LOC100287763 100287763 genome.wustl.edu 37 3 98244076 98244076 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002342388.1 +1 model p.A130V 1.000 42 0% 68 33.8% 0 - - - - NULL GPR15 2838 genome.wustl.edu 37 3 98251090 98251090 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005290.1 +1 provisional p.F71L 0.997 122 0% 170 23.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like CPOX 1371 genome.wustl.edu 37 3 98309485 98309485 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000097.5 -1 reviewed p.E268* 1.000 182 0% 301 29.9% 10 10% - - - HMMPfam_Coprogen_oxidas,superfamily_Coprogen_oxidas DCBLD2 131566 genome.wustl.edu 37 3 98568435 98568435 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_080927.3 -1 validated p.Y147* 1.000 178 0% 262 32.1% 7 28.5% - - - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain FILIP1L 11259 genome.wustl.edu 37 3 99567594 99567594 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182909.2 -1 validated p.I976V 0.000 181 0% 211 28.9% 29 0% benign(0) tolerated(1) - NULL FILIP1L 11259 genome.wustl.edu 37 3 99569454 99569454 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182909.2 -1 validated p.E356* 1.000 350 0% 382 29.3% 3 0% - - - superfamily_Prefoldin,HMMPfam_CortBP2 FILIP1L 11259 genome.wustl.edu 37 3 99569892 99569892 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182909.2 -1 validated p.E210* 1.000 84 0% 72 33.3% 3 0% - - - HMMPfam_CortBP2 TBC1D23 55773 genome.wustl.edu 37 3 100037954 100037954 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018309.2 +1 validated p.E562* 1.000 81 0% 121 19% 10 30% - - - NULL TOMM70A 9868 genome.wustl.edu 37 3 100105779 100105779 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014820.3 -1 validated p.K123T 1.000 263 0% 315 34.6% 7 42.8% benign(0.018) tolerated(0.23) neutral(0.042) HMMPfam_TPR_1,HMMSmart_TPR,superfamily_SSF48452 LNP1 348801 genome.wustl.edu 37 3 100174682 100174682 + Missense_Mutation SNP G G A rs193190932 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001085451.1 +1 validated p.R150Q 0.000 183 0% 321 38% 0 - benign(0.034) tolerated(0.34) neutral(0.025) NULL ABI3BP 25890 genome.wustl.edu 37 3 100489681 100489681 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015429.3 -1 validated p.Q838H 0.994 616 0.2% 731 33% 4 0% probably_damaging(0.991) deleterious(0.03) deleterious(0.808) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III ABI3BP 25890 genome.wustl.edu 37 3 100511568 100511568 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015429.3 -1 validated p.P645T 0.995 679 0% 367 27% 0 - probably_damaging(0.954) deleterious(0.01) deleterious(0.803) NULL ABI3BP 25890 genome.wustl.edu 37 3 100570739 100570739 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015429.3 -1 validated p.E402G 0.996 218 0% 224 31.7% 1 0% probably_damaging(0.991) tolerated(0.3) deleterious(0.473) NULL SENP7 57337 genome.wustl.edu 37 3 101062618 101062618 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020654.3 -1 validated p.S673Y 1.000 147 0% 168 31.5% 1 100% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL RG9MTD1 54931 genome.wustl.edu 37 3 101283871 101283871 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017819.2 +1 provisional p.I82 0.000 74 0% 135 31.1% 13 61.5% - - - NULL RG9MTD1 54931 genome.wustl.edu 37 3 101284358 101284358 + Missense_Mutation SNP T T A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017819.2 +1 provisional p.F245I 1.000 57 0% 81 35.8% 25 40% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMPfam_tRNA_m1G_MT ZBTB11 27107 genome.wustl.edu 37 3 101373567 101373567 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014415.3 -1 validated p.R764* 1.000 182 0% 238 29.4% 2 50% - - - superfamily_SSF57667 CEP97 79598 genome.wustl.edu 37 3 101477197 101477197 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024548.2 +1 provisional p.D583Y 1.000 32 0% 75 34.7% 1 0% probably_damaging(0.984) deleterious(0) deleterious(0.875) NULL FAM55C 91775 genome.wustl.edu 37 3 101540646 101540646 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001134456.1 +1 validated p.R510W 1.000 51 0% 86 31.4% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CBLB 868 genome.wustl.edu 37 3 105470463 105470463 + Splice_Site SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_170662.3 -1 validated e4-1 1.000 95 0% 131 27.5% 0 - - - - - CCDC54 84692 genome.wustl.edu 37 3 107096927 107096927 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032600.2 +1 provisional p.E165* 0.223 41 0% 48 35.4% 0 - - - - NULL CCDC54 84692 genome.wustl.edu 37 3 107097303 107097303 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032600.2 +1 provisional p.T290I 0.062 210 0% 200 34.5% 0 - benign(0.303) tolerated(0.07) neutral(0.413) NULL BBX 56987 genome.wustl.edu 37 3 107435553 107435553 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142568.1 +1 validated p.L88I 1.000 130 0% 136 30.9% 5 20% possibly_damaging(0.836) deleterious(0.02) deleterious(0.703) HMMPfam_HMG_box,HMMSmart_SM00398,superfamily_HMG-box BBX 56987 genome.wustl.edu 37 3 107520087 107520087 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000416476 +1 known p.S563L 0.145 118 0% 163 36.2% 11 45.4% unknown(0) - - NULL MYH15 22989 genome.wustl.edu 37 3 108124195 108124195 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014981.1 -1 validated p.E1596* 0.998 141 0% 81 34.6% 0 - - - - HMMPfam_Myosin_tail_1 MYH15 22989 genome.wustl.edu 37 3 108172969 108172969 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014981.1 -1 validated p.F781L 0.998 167 0% 152 26.3% 0 - benign(0.002) tolerated(1) - HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYH15 22989 genome.wustl.edu 37 3 108204072 108204072 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014981.1 -1 validated p.A347V 1.000 149 0% 206 33.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MORC1 27136 genome.wustl.edu 37 3 108677836 108677836 + Missense_Mutation SNP T T A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014429.3 -1 reviewed p.K977N 0.000 131 0% 69 21.7% 0 - possibly_damaging(0.919) deleterious(0) deleterious(0.814) NULL MORC1 27136 genome.wustl.edu 37 3 108782079 108782079 + Splice_Site SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014429.3 -1 reviewed e10-1 1.000 165 0% 209 33.5% 0 - - - - - MORC1 27136 genome.wustl.edu 37 3 108829629 108829629 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014429.3 -1 reviewed p.D41Y 1.000 106 0% 115 25.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HATPase_c,superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase DPPA4 55211 genome.wustl.edu 37 3 109052826 109052826 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018189.3 -1 validated p.E23D 0.002 178 0% 293 35.2% 1 100% benign(0.242) tolerated(0.05) neutral(0.370) NULL ZBED2 79413 genome.wustl.edu 37 3 111312513 111312513 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024508.3 -1 validated p.R179Q 0.007 154 0% 183 31.7% 2 50% possibly_damaging(0.867) tolerated(0.55) neutral(0.344) NULL PLCXD2 257068 genome.wustl.edu 37 3 111427208 111427208 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153268.3 +1 validated p.R200Q 0.000 102 0% 109 26.6% 0 - benign(0.001) tolerated(0.86) neutral(0.001) superfamily_PLC-like_Pdiesterase_TIM-brl PHLDB2 90102 genome.wustl.edu 37 3 111603156 111603156 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001134438.1 +1 validated p.S78R 0.108 134 0% 176 34.7% 1 0% possibly_damaging(0.462) deleterious(0.04) deleterious(0.500) NULL PHLDB2 90102 genome.wustl.edu 37 3 111632426 111632426 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001134438.1 +1 validated p.F532L 0.892 175 0% 237 37.6% 2 50% benign(0.001) tolerated(0.45) neutral(0.012) NULL PHLDB2 90102 genome.wustl.edu 37 3 111639200 111639200 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001134438.1 +1 validated p.E645 1.000 305 0% 381 32.3% 0 - - - - NULL PHLDB2 90102 genome.wustl.edu 37 3 111671504 111671504 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001134438.1 +1 validated p.S906Y 0.995 216 0% 247 34.4% 1 0% benign(0.002) deleterious(0) neutral(0.445) NULL TMPRSS7 344805 genome.wustl.edu 37 3 111785326 111785326 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001042575.2 +1 validated p.R422Q 0.000 53 0% 55 38.2% 0 - benign(0.002) tolerated(0.36) neutral(0.020) HMMSmart_SM00192,superfamily_LDL receptor-like module SLC9A10 285335 genome.wustl.edu 37 3 111927042 111927042 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_183061.1 -1 validated p.L657I 0.359 128 0% 123 27.6% 0 - benign(0.235) tolerated(0.23) neutral(0.065) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SLC9A10 285335 genome.wustl.edu 37 3 111927214 111927214 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_183061.1 -1 validated p.F599L 0.000 102 0% 89 30.3% 0 - benign(0) tolerated(0.74) neutral(0.002) superfamily_Voltage-gated potassium channels SLC9A10 285335 genome.wustl.edu 37 3 111996635 111996635 + Missense_Mutation SNP G G T rs35619374 TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_183061.1 -1 validated p.Q131K 0.960 108 0% 53 28.3% 0 - benign(0) tolerated(1) - HMMPfam_Na_H_Exchanger SLC9A10 285335 genome.wustl.edu 37 3 111997697 111997697 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_183061.1 -1 validated p.R66I 0.000 158 0% 142 28.2% 0 - benign(0) tolerated(0.2) neutral(0.049) HMMPfam_Na_H_Exchanger CCDC80 151887 genome.wustl.edu 37 3 112357249 112357249 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_199511.1 -1 validated p.L502I 0.003 197 0% 167 34.1% 15 6.6% possibly_damaging(0.892) tolerated(0.17) neutral(0.410) NULL GTPBP8 29083 genome.wustl.edu 37 3 112713993 112713993 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014170.2 +1 validated p.K149N 1.000 120 0% 122 26.2% 4 0% - - - HMMPfam_MMR_HSR1,superfamily_P-loop containing nucleoside triphosphate hydrolases GTPBP8 29083 genome.wustl.edu 37 3 112714102 112714102 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014170.2 +1 validated p.E186* 0.998 123 0% 137 20.4% 8 0% - - - HMMPfam_MMR_HSR1,superfamily_P-loop containing nucleoside triphosphate hydrolases C3orf17 25871 genome.wustl.edu 37 3 112724677 112724677 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015412.3 -1 validated p.Q470H 0.983 184 0.5% 153 34% 27 40.7% probably_damaging(0.982) deleterious(0.03) deleterious(0.791) NULL WDR52 55779 genome.wustl.edu 37 3 113022811 113022811 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000393845 -1 known p.R825C 1.000 374 0.3% 516 32.6% 6 50% probably_damaging(1) tolerated(0.08) deleterious(0.800) NULL WDR52 55779 genome.wustl.edu 37 3 113063555 113063555 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000393845 -1 known p.R172* 1.000 167 0% 230 32.6% 1 0% - - - NULL WDR52 55779 genome.wustl.edu 37 3 113077690 113077690 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000393845 -1 known p.E137D 0.408 219 0% 253 36.8% 0 - benign(0.125) tolerated(0.84) neutral(0.011) NULL WDR52 55779 genome.wustl.edu 37 3 113118757 113118757 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018338.3 -1 validated p.R522Q 0.000 94 0% 86 38.4% 0 - benign(0.019) tolerated(0.53) neutral(0.009) superfamily_WD40_like SPICE1 152185 genome.wustl.edu 37 3 113172600 113172600 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144718.3 -1 validated p.A619T 0.012 281 0% 437 30.4% 15 60% benign(0.006) tolerated(0.35) neutral(0.021) NULL SPICE1 152185 genome.wustl.edu 37 3 113218403 113218403 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144718.3 -1 validated p.S58 0.251 231 0% 333 33.6% 4 50% - - - NULL SIDT1 54847 genome.wustl.edu 37 3 113342559 113342559 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017699.2 +1 validated p.F762L 1.000 112 0% 168 31.5% 1 0% benign(0.062) tolerated(0.53) neutral(0.011) NULL KIAA2018 205717 genome.wustl.edu 37 3 113376660 113376660 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001009899.2 -1 validated p.S1290Y 0.989 104 0% 157 37.6% 0 - benign(0.113) deleterious(0.01) neutral(0.415) NULL KIAA2018 205717 genome.wustl.edu 37 3 113378866 113378866 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001009899.2 -1 validated p.L555I 1.000 328 0% 481 32.4% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL KIAA2018 205717 genome.wustl.edu 37 3 113379348 113379348 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001009899.2 -1 validated p.L394S 0.987 112 0% 150 34.7% 2 50% benign(0.277) deleterious(0.02) neutral(0.412) NULL GRAMD1C 54762 genome.wustl.edu 37 3 113659167 113659167 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017577.4 +1 validated p.R628Q 0.432 149 0% 217 34.1% 1 0% benign(0.014) tolerated(0.89) neutral(0.001) NULL KIAA1407 57577 genome.wustl.edu 37 3 113729746 113729746 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020817.1 -1 predicted p.T429N 0.884 172 0% 186 29.6% 1 100% benign(0) tolerated(0.14) neutral(0.249) NULL LSAMP 4045 genome.wustl.edu 37 3 116163854 116163854 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002338.3 -1 reviewed p.R9W 0.999 76 0% 75 34.7% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL TIMMDC1 51300 genome.wustl.edu 37 3 119222391 119222391 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016589.3 +1 validated p.R125C 0.982 189 0% 313 36.1% 54 20.3% probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL CD80 941 genome.wustl.edu 37 3 119246645 119246645 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005191.3 -1 validated p.L280 0.001 442 0% 692 29.6% 0 - - - - NULL PLA1A 51365 genome.wustl.edu 37 3 119328416 119328416 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015900.2 +1 validated p.Q185H 0.972 139 0% 142 29.6% 4 0% benign(0.004) deleterious(0) neutral(0.445) HMMPfam_Lipase,superfamily_alpha/beta-Hydrolases PLA1A 51365 genome.wustl.edu 37 3 119347661 119347661 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015900.2 +1 validated p.R412Q 0.000 106 0% 169 28.4% 7 0% benign(0.003) tolerated(0.78) neutral(0.001) NULL COX17 10063 genome.wustl.edu 37 3 119394073 119394073 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005694.1 -1 reviewed p.E39K 0.997 237 0% 344 34.6% 174 42.5% probably_damaging(0.96) tolerated(0.06) deleterious(0.726) HMMPfam_COX17 C3orf15 89876 genome.wustl.edu 37 3 119458111 119458111 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033364.3 +1 validated p.E491* 1.000 169 0% 204 22.1% 1 0% - - - NULL NR1I2 8856 genome.wustl.edu 37 3 119531580 119531580 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022002.2 +1 reviewed p.Q228 0.121 115 0% 133 22.6% 0 - - - - superfamily_Str_ncl_receptor FSTL1 11167 genome.wustl.edu 37 3 120115844 120115844 + Splice_Site SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007085.4 -1 reviewed e10-1 1.000 374 0% 368 19.3% 1 0% - - - - STXBP5L 9515 genome.wustl.edu 37 3 121097632 121097632 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014980.2 +1 validated p.A773V 1.000 73 0% 85 34.1% 2 50% benign(0.003) tolerated(0.27) neutral(0.034) NULL STXBP5L 9515 genome.wustl.edu 37 3 121100156 121100156 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014980.2 +1 validated p.S812 0.999 78 0% 46 39.1% 0 - - - - NULL POLQ 10721 genome.wustl.edu 37 3 121229071 121229071 + Missense_Mutation SNP G G C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_199420.3 -1 validated p.A544G 1.000 105 0% 234 33.8% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) superfamily_P-loop containing nucleoside triphosphate hydrolases HCLS1 3059 genome.wustl.edu 37 3 121363760 121363760 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005335.4 -1 validated p.E102* 1.000 91 0% 174 32.2% 14 0% - - - HMMPfam_HS1_rep GOLGB1 2804 genome.wustl.edu 37 3 121383366 121383366 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004487.3 -1 validated p.I3247 0.995 107 0% 182 35.7% 156 43.5% - - - NULL GOLGB1 2804 genome.wustl.edu 37 3 121416501 121416501 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004487.3 -1 validated p.D952Y 0.988 115 0% 104 29.8% 2 0% possibly_damaging(0.929) deleterious(0.03) deleterious(0.740) superfamily_Spectrin repeat GOLGB1 2804 genome.wustl.edu 37 3 121417441 121417441 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000489400 -1 known p.N509S 0.000 136 0% 119 17.6% 8 25% - - - NULL GOLGB1 2804 genome.wustl.edu 37 3 121435903 121435903 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004487.3 -1 validated p.K318N 0.863 141 0% 191 37.2% 7 28.5% possibly_damaging(0.619) tolerated(0.08) deleterious(0.515) NULL GOLGB1 2804 genome.wustl.edu 37 3 121448819 121448819 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004487.3 -1 validated p.E48* 0.443 216 0% 216 28.7% 2 0% - - - NULL IQCB1 9657 genome.wustl.edu 37 3 121489233 121489233 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001023570.2 -1 reviewed p.E586* 1.000 189 0% 242 28.9% 35 54.2% - - - NULL EAF2 55840 genome.wustl.edu 37 3 121573588 121573588 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018456.4 +1 validated p.E86* 1.000 71 0% 66 31.8% 4 0% - - - HMMPfam_EAF CD86 942 genome.wustl.edu 37 3 121822477 121822477 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000478741 +1 known p.K57E 0.000 182 0% 182 30.2% 6 0% - - - HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin CASR 846 genome.wustl.edu 37 3 121975947 121975947 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000388.3 +1 reviewed p.R69C 1.000 182 0% 218 41.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I CASR 846 genome.wustl.edu 37 3 121981094 121981094 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000388.3 +1 reviewed p.V404 0.035 129 0% 203 36.9% 0 - - - - HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I CASR 846 genome.wustl.edu 37 3 121981223 121981223 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000388.3 +1 reviewed p.G447 0.674 75 0% 118 33.1% 0 - - - - HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I CASR 846 genome.wustl.edu 37 3 122002712 122002712 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000388.3 +1 reviewed p.F637 1.000 171 0% 254 35% 1 0% - - - HMMPfam_7tm_3 CCDC58 131076 genome.wustl.edu 37 3 122090589 122090589 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001017928.2 -1 validated p.T37M 1.000 163 0% 227 28.6% 23 21.7% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Cid2 PARP9 83666 genome.wustl.edu 37 3 122255881 122255881 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031458.2 -1 validated p.M637R 0.192 357 0% 480 30.8% 6 16.6% benign(0.344) tolerated(0.07) neutral(0.427) superfamily_ADP-ribosylation PARP15 165631 genome.wustl.edu 37 3 122334683 122334683 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001113523.1 +1 validated p.P277S 0.001 118 0% 165 29.1% 0 - benign(0.014) tolerated(0.09) neutral(0.297) NULL PARP14 54625 genome.wustl.edu 37 3 122411218 122411218 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017554.2 +1 validated p.E142D 0.095 207 0% 293 33.4% 1 100% benign(0.025) tolerated(0.48) neutral(0.011) NULL PARP14 54625 genome.wustl.edu 37 3 122437050 122437050 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017554.2 +1 validated p.V1378A 0.991 221 0% 290 31.7% 4 0% possibly_damaging(0.784) tolerated(0.7) neutral(0.295) superfamily_Macro domain-like SEMA5B 54437 genome.wustl.edu 37 3 122645514 122645514 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001031702.2 -1 validated p.F287L 0.988 36 0% 56 32.1% 1 0% probably_damaging(0.987) deleterious(0) deleterious(0.881) HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain MYLK 4638 genome.wustl.edu 37 3 123337506 123337506 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_053025.3 -1 reviewed p.R1827I 1.000 209 0% 294 31.3% 18 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin CCDC14 64770 genome.wustl.edu 37 3 123667877 123667877 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022757.4 -1 validated p.R159I 0.866 265 0% 320 27.8% 5 20% possibly_damaging(0.819) deleterious(0.03) deleterious(0.674) NULL ROPN1 54763 genome.wustl.edu 37 3 123688971 123688971 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017578.2 -1 provisional p.L164I 1.000 306 0% 367 37.6% 0 - possibly_damaging(0.722) tolerated(0.56) neutral(0.269) NULL KALRN 8997 genome.wustl.edu 37 3 124438066 124438066 + Missense_Mutation SNP T T A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001024660.3 +1 reviewed p.F2904I 1.000 112 0% 191 27.7% 0 - probably_damaging(0.978) deleterious(0) deleterious(0.865) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ITGB5 3693 genome.wustl.edu 37 3 124482500 124482500 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002213.3 -1 provisional p.F790L 1.000 186 0% 295 33.9% 98 15.3% benign(0) tolerated(0.85) neutral(0.001) NULL MUC13 56667 genome.wustl.edu 37 3 124632044 124632044 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033049.2 -1 validated p.K375N 0.199 118 0% 164 34.1% 0 - possibly_damaging(0.84) deleterious(0.04) deleterious(0.670) HMMSmart_SM00181 HEG1 57493 genome.wustl.edu 37 3 124724179 124724179 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020733.1 -1 validated p.R1076I 0.999 163 0% 217 37.3% 0 - possibly_damaging(0.92) deleterious(0.01) deleterious(0.776) NULL HEG1 57493 genome.wustl.edu 37 3 124748188 124748188 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020733.1 -1 validated p.S154L 0.001 170 0% 230 36.5% 1 0% benign(0) deleterious(0) neutral(0.445) NULL ZNF148 7707 genome.wustl.edu 37 3 124952765 124952765 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021964.2 -1 validated p.R269C 1.000 91 0% 77 23.4% 4 25% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF148 7707 genome.wustl.edu 37 3 124997978 124997978 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021964.2 -1 validated p.F191L 1.000 167 0% 172 21.5% 1 100% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ALDH1L1 10840 genome.wustl.edu 37 3 125831637 125831637 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012190.2 -1 reviewed p.F723 0.993 130 0% 184 71.7% 9 100% - - - HMMPfam_Aldedh,superfamily_Aldehyde_DH/Histidinol_DH ALDH1L1 10840 genome.wustl.edu 37 3 125855640 125855640 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012190.2 -1 reviewed p.K437N 1.000 188 0% 239 32.6% 3 0% benign(0.006) deleterious(0.01) neutral(0.406) HMMPfam_Aldedh,superfamily_Aldehyde_DH/Histidinol_DH CCDC37 348807 genome.wustl.edu 37 3 126153213 126153213 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182628.2 +1 validated p.E539 0.700 38 0% 61 36.1% 1 100% - - - NULL CHCHD6 84303 genome.wustl.edu 37 3 126451953 126451953 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032343.1 +1 provisional p.K100T 0.879 68 0% 99 31.3% 29 37.9% benign(0.184) deleterious(0.01) neutral(0.423) HMMPfam_DUF737 CHCHD6 84303 genome.wustl.edu 37 3 126633522 126633522 + Splice_Site SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032343.1 +1 provisional e6-1 1.000 256 0% 325 33.5% 0 - - - - - PLXNA1 5361 genome.wustl.edu 37 3 126737359 126737359 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032242.3 +1 validated p.E1272K 1.000 29 0% 38 21.1% 51 45% benign(0.127) deleterious(0) neutral(0.455) NULL C3orf56 285311 genome.wustl.edu 37 3 126915898 126915898 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000398112 +1 known p.A124T 0.000 88 0% 108 45.4% 0 - benign(0.355) - - NULL PODXL2 50512 genome.wustl.edu 37 3 127379408 127379408 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015720.2 +1 validated p.E179D 0.259 96 0% 144 29.9% 46 50% unknown(0) deleterious(0) - NULL PODXL2 50512 genome.wustl.edu 37 3 127381132 127381132 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015720.2 +1 validated p.N395S 1.000 103 1% 129 34.9% 92 39.1% probably_damaging(0.996) deleterious(0.04) deleterious(0.810) HMMPfam_CD34_antigen LOC653712 653712 genome.wustl.edu 37 3 128580590 128580590 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_371663.7 -1 model p.S89F 1.000 57 0% 65 35.4% 0 - - - - NULL ACAD9 28976 genome.wustl.edu 37 3 128618218 128618218 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014049.4 +1 reviewed p.K241T 1.000 116 0% 217 32.3% 27 25.9% probably_damaging(0.982) deleterious(0.01) deleterious(0.832) superfamily_AcylCoA_dehyd_NM RHO 6010 genome.wustl.edu 37 3 129247626 129247626 + Missense_Mutation SNP C C T rs104893769 byCluster TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000539.3 +1 reviewed p.T17M 1.000 107 0% 118 38.1% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_Rhodopsin_N,superfamily_SSF81321 H1FOO 132243 genome.wustl.edu 37 3 129266376 129266376 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153833.1 +1 reviewed p.I77 0.997 6 0.000 5 0.800 0 - - - - "HMMPfam_Linker_histone,HMMSmart_SM00526,superfamily_""Winged helix"" DNA-binding domain" TMCC1 23023 genome.wustl.edu 37 3 129373847 129373847 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001017395.3 -1 validated p.I537 0.512 250 0% 350 34.3% 15 40% - - - HMMPfam_Tmemb_cc2 TRH 7200 genome.wustl.edu 37 3 129695980 129695980 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007117.2 +1 validated p.S217I 0.520 21 0% 39 30.8% 0 - probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL COL6A5 256076 genome.wustl.edu 37 3 130098341 130098341 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153264.5 +1 validated p.N250H 0.013 132 0% 86 41.9% 0 - probably_damaging(0.999) - - HMMPfam_VWA,HMMSmart_VWA,superfamily_SSF53300 COL6A5 256076 genome.wustl.edu 37 3 130098548 130098548 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153264.5 +1 validated p.D319Y 0.822 105 0% 78 34.6% 0 - benign(0.408) - - HMMPfam_VWA,HMMSmart_VWA,superfamily_SSF53300 COL6A5 256076 genome.wustl.edu 37 3 130104011 130104011 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153264.5 +1 validated p.S555 0.001 126 0% 98 33.7% 0 - - - - HMMPfam_VWA,HMMSmart_VWA,superfamily_SSF53300 COL6A5 256076 genome.wustl.edu 37 3 130150536 130150536 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153264.5 +1 validated p.L1826I 1.000 113 0% 124 32.3% 0 - probably_damaging(0.984) - - HMMPfam_VWA,HMMSmart_VWA,superfamily_SSF53300 COL6A6 131873 genome.wustl.edu 37 3 130282025 130282025 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001102608.1 +1 provisional p.E60* 0.910 204 0.5% 276 29.7% 0 - - - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like PIK3R4 30849 genome.wustl.edu 37 3 130427283 130427283 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014602.2 -1 validated p.M795I 1.000 402 0% 427 30.9% 7 71.4% benign(0) tolerated(0.87) neutral(0.001) superfamily_WD40_like PIK3R4 30849 genome.wustl.edu 37 3 130463713 130463713 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014602.2 -1 validated p.R117H 1.000 121 0% 214 31.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,superfamily_Kinase_like PIK3R4 30849 genome.wustl.edu 37 3 130463944 130463944 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014602.2 -1 validated p.V40G 1.000 96 0% 113 24.8% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,superfamily_Kinase_like MRPL3 11222 genome.wustl.edu 37 3 131181684 131181684 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000511168 -1 known p.R325W 0.000 196 0% 198 31.8% 126 34.9% - - - superfamily_Translation proteins LOC100289095 100289095 genome.wustl.edu 37 3 131245581 131245581 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002342398.1 +1 model p.E93D 0.088 90 0% 72 30.6% 4 0% - - - NULL DNAJC13 23317 genome.wustl.edu 37 3 132165351 132165351 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015268.3 +1 validated p.A34V 1.000 164 0% 138 30.4% 0 - possibly_damaging(0.61) deleterious(0.01) deleterious(0.617) NULL DNAJC13 23317 genome.wustl.edu 37 3 132186087 132186087 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015268.3 +1 validated p.K713T 1.000 190 0% 260 37.3% 2 0% possibly_damaging(0.61) tolerated(0.32) neutral(0.235) superfamily_ARM repeat DNAJC13 23317 genome.wustl.edu 37 3 132201123 132201123 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015268.3 +1 validated p.W976* 1.000 188 0% 253 31.2% 1 0% - - - superfamily_ARM repeat DNAJC13 23317 genome.wustl.edu 37 3 132209766 132209766 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015268.3 +1 validated p.R1165I 1.000 70 0% 54 22.2% 2 50% probably_damaging(0.988) deleterious(0) deleterious(0.882) superfamily_ARM repeat DNAJC13 23317 genome.wustl.edu 37 3 132211376 132211376 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015268.3 +1 validated p.E1248K 1.000 184 0% 113 29.2% 4 50% benign(0.021) deleterious(0.02) neutral(0.384) superfamily_ARM repeat ACAD11 84129 genome.wustl.edu 37 3 132378489 132378489 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032169.4 -1 validated p.F36S 0.986 115 0% 125 27.2% 0 - unknown(0) tolerated(0.06) - superfamily_Protein kinase-like (PK-like) NPHP3 27031 genome.wustl.edu 37 3 132401596 132401596 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153240.3 -1 reviewed p.R1255W 0.953 194 0% 195 34.4% 10 20% probably_damaging(0.953) deleterious(0.02) deleterious(0.780) superfamily_TPR-like NPHP3 27031 genome.wustl.edu 37 3 132418250 132418250 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153240.3 -1 reviewed p.V644 1.000 214 0% 249 31.7% 0 - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases TMEM108 66000 genome.wustl.edu 37 3 133099748 133099748 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001136469.1 +1 validated p.S398F 0.747 56 0% 67 37.3% 0 - possibly_damaging(0.597) deleterious(0.02) deleterious(0.590) NULL BFSP2 8419 genome.wustl.edu 37 3 133119095 133119095 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003571.2 +1 reviewed p.V56 0.984 59 0% 60 30% 0 - - - - NULL BFSP2 8419 genome.wustl.edu 37 3 133191329 133191329 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003571.2 +1 reviewed p.R388 0.154 22 0% 27 40.7% 1 0% - - - NULL CDV3 55573 genome.wustl.edu 37 3 133306017 133306017 + Nonstop_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001134422.1 +1 validated p.*214L 1.000 72 0% 89 28.1% 48 18.7% - - - NULL TOPBP1 11073 genome.wustl.edu 37 3 133368715 133368715 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007027.3 -1 reviewed p.R388C 1.000 158 0% 196 29.1% 5 40% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_BRCT,HMMSmart_SM00292,superfamily_BRCT domain SRPRB 58477 genome.wustl.edu 37 3 133534483 133534483 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021203.3 +1 reviewed p.D154Y 1.000 184 0% 171 26.9% 127 44% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SRPRB,superfamily_P-loop containing nucleoside triphosphate hydrolases RAB6B 51560 genome.wustl.edu 37 3 133553450 133553450 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016577.3 -1 validated p.M177I 1.000 105 0% 160 27.5% 0 - benign(0) tolerated(0.19) neutral(0.050) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00175,superfamily_P-loop containing nucleoside triphosphate hydrolases RAB6B 51560 genome.wustl.edu 37 3 133614276 133614276 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016577.3 -1 validated p.R12I 1.000 105 0% 113 34.5% 1 0% unknown(0) deleterious(0) - HMMSmart_SM00173,superfamily_P-loop containing nucleoside triphosphate hydrolases RYK 6259 genome.wustl.edu 37 3 133896873 133896873 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005861.2 -1 reviewed p.K408N 1.000 254 0% 250 38.8% 22 45.4% possibly_damaging(0.84) tolerated(0.66) neutral(0.324) NULL RYK 6259 genome.wustl.edu 37 3 133907683 133907683 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000296084 -1 known p.K368R 1.000 254 0% 317 24.3% 15 46.6% probably_damaging(0.979) tolerated(0.48) neutral(0.432) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) CEP63 80254 genome.wustl.edu 37 3 134268009 134268009 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000504929 +1 known p.R80K 1.000 89 0% 194 29.4% 12 25% - - - NULL CEP63 80254 genome.wustl.edu 37 3 134269047 134269047 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025180.3 +1 reviewed p.E442G 0.890 110 0% 174 33.3% 23 34.7% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CEP63 80254 genome.wustl.edu 37 3 134277035 134277035 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025180.3 +1 reviewed p.N507H 1.000 81 0% 74 40.5% 1 0% probably_damaging(0.996) tolerated(0.05) deleterious(0.807) NULL KY 339855 genome.wustl.edu 37 3 134348476 134348476 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178554.4 -1 validated p.F108L 1.000 207 0% 249 36.1% 0 - benign(0.003) tolerated(0.22) neutral(0.042) NULL KY 339855 genome.wustl.edu 37 3 134369752 134369752 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178554.4 -1 validated p.I17 1.000 58 0% 57 33.3% 0 - - - - NULL EPHB1 2047 genome.wustl.edu 37 3 134670711 134670711 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004441.4 +1 reviewed p.E208K 1.000 230 0% 306 27.5% 0 - probably_damaging(1) tolerated(0.07) deleterious(0.819) NULL EPHB1 2047 genome.wustl.edu 37 3 134898755 134898755 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004441.4 +1 reviewed p.E605K 1.000 249 0% 299 32.4% 0 - probably_damaging(0.997) tolerated(0.06) deleterious(0.788) superfamily_Protein kinase-like (PK-like) EPHB1 2047 genome.wustl.edu 37 3 134898801 134898801 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004441.4 +1 reviewed p.K620R 1.000 249 0% 253 34.4% 0 - probably_damaging(0.98) tolerated(0.25) neutral(0.461) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) PPP2R3A 5523 genome.wustl.edu 37 3 135741937 135741937 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_181897.1 +1 reviewed p.R9Q 1.000 199 0% 143 39.9% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL STAG1 10274 genome.wustl.edu 37 3 136076581 136076581 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005862.2 -1 reviewed p.R1016* 1.000 146 0% 213 30% 7 0% - - - NULL STAG1 10274 genome.wustl.edu 37 3 136141451 136141451 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005862.2 -1 reviewed p.L613R 1.000 91 0% 156 41% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM-type_fold STAG1 10274 genome.wustl.edu 37 3 136141825 136141825 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005862.2 -1 reviewed p.F571C 1.000 230 0% 467 31.5% 4 25% probably_damaging(0.993) deleterious(0) deleterious(0.895) superfamily_ARM-type_fold STAG1 10274 genome.wustl.edu 37 3 136152448 136152448 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005862.2 -1 reviewed p.R534C 1.000 113 0% 140 29.3% 3 33.3% probably_damaging(0.99) deleterious(0) deleterious(0.886) superfamily_ARM-type_fold STAG1 10274 genome.wustl.edu 37 3 136152477 136152477 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005862.2 -1 reviewed p.A524D 1.000 96 0% 111 36% 4 50% benign(0.003) deleterious(0.02) neutral(0.383) superfamily_ARM-type_fold SLC35G2 80723 genome.wustl.edu 37 3 136573464 136573464 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001097599.1 +1 validated p.K54N 1.000 65 0% 75 36% 0 - benign(0.059) tolerated(0.39) neutral(0.020) NULL DZIP1L 199221 genome.wustl.edu 37 3 137807229 137807229 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173543.2 -1 validated p.E331* 0.855 71 0% 75 28% 1 0% - - - NULL DZIP1L 199221 genome.wustl.edu 37 3 137811356 137811356 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173543.2 -1 validated p.E247K 0.993 418 0% 559 28.4% 1 0% probably_damaging(0.953) tolerated(0.05) deleterious(0.742) NULL A4GNT 51146 genome.wustl.edu 37 3 137843314 137843314 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016161.2 -1 reviewed p.Y272C 0.989 168 0% 245 35.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Gb3_synth A4GNT 51146 genome.wustl.edu 37 3 137843549 137843549 + Missense_Mutation SNP T T A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016161.2 -1 reviewed p.I194L 1.000 65 0% 129 34.1% 0 - benign(0.013) deleterious(0.04) neutral(0.349) NULL ARMC8 25852 genome.wustl.edu 37 3 137960644 137960644 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015396.3 +1 validated p.R272Q 1.000 202 0% 357 31.9% 19 26.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL PIK3CB 5291 genome.wustl.edu 37 3 138383891 138383891 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006219.1 -1 provisional p.E887* 1.000 94 1.1% 153 33.3% 4 50% - - - HMMPfam_PI3_PI4_kinase,HMMSmart_PI3Kc,superfamily_Kinase_like PRR23A 729627 genome.wustl.edu 37 3 138724463 138724463 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001134659.1 -1 validated p.F216 0.000 102 0% 158 30.4% 0 - - - - HMMPfam_DUF2476 MRPS22 56945 genome.wustl.edu 37 3 139065787 139065787 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000466690 +1 known p.E76K 0.636 118 0% 164 35.4% 10 50% - - - HMMPfam_MRP-S22 COPB2 9276 genome.wustl.edu 37 3 139097029 139097029 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004766.2 -1 validated p.D120Y 1.000 168 0% 278 28.8% 47 48.9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 CLSTN2 64084 genome.wustl.edu 37 3 140185522 140185522 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022131.2 +1 validated p.F431 1.000 90 0% 114 31.6% 0 - - - - superfamily_Concanavalin A-like lectins/glucanases CLSTN2 64084 genome.wustl.edu 37 3 140282885 140282885 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022131.2 +1 validated p.V855 1.000 262 0% 295 34.2% 0 - - - - NULL ACPL2 92370 genome.wustl.edu 37 3 140979095 140979095 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001037172.1 +1 validated p.F26 1.000 141 0% 158 29.1% 6 16.6% - - - NULL ZBTB38 253461 genome.wustl.edu 37 3 141164564 141164564 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080412.2 +1 validated p.H1112N 1.000 61 0% 138 33.3% 3 33.3% probably_damaging(0.99) deleterious(0.03) deleterious(0.806) PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 RASA2 5922 genome.wustl.edu 37 3 141291492 141291492 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006506.2 +1 reviewed p.R404Q 0.982 159 0% 238 30.7% 2 0% benign(0.013) tolerated(0.07) neutral(0.320) HMMPfam_RasGAP,HMMSmart_RasGAP,superfamily_Rho_GAP TFDP2 7029 genome.wustl.edu 37 3 141724334 141724334 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000489671 -1 known p.K45N 1.000 292 0% 469 28.6% 12 33.3% benign(0.074) tolerated(0.25) neutral(0.042) NULL GK5 256356 genome.wustl.edu 37 3 141884584 141884584 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001039547.2 -1 validated p.K490N 1.000 265 0% 323 29.4% 4 0% benign(0.002) tolerated(0.08) neutral(0.300) HMMPfam_FGGY_C,superfamily_Actin-like ATPase domain GK5 256356 genome.wustl.edu 37 3 141896389 141896389 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001039547.2 -1 validated p.K360Q 1.000 220 0% 350 34.9% 3 0% possibly_damaging(0.833) tolerated(0.5) neutral(0.328) HMMPfam_FGGY_C,superfamily_Actin-like ATPase domain ATR 545 genome.wustl.edu 37 3 142241601 142241601 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001184.3 -1 reviewed p.R1412Q 1.000 183 0% 188 34% 1 0% possibly_damaging(0.791) tolerated(0.32) neutral(0.321) superfamily_ARM repeat ATR 545 genome.wustl.edu 37 3 142275252 142275252 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001184.3 -1 reviewed p.S684Y 0.975 114 0% 149 32.9% 0 - probably_damaging(0.982) deleterious(0.03) deleterious(0.791) superfamily_ARM repeat PLS1 5357 genome.wustl.edu 37 3 142395006 142395006 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145319.1 +1 reviewed p.E124D 1.000 156 0% 200 21.5% 4 0% benign(0.001) deleterious(0.01) neutral(0.406) PatternScan_ACTININ_1,HMMPfam_CH,HMMSmart_CH,superfamily_Calponin-homology,superfamily_SSF47473 PLS1 5357 genome.wustl.edu 37 3 142423410 142423410 + Silent SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145319.1 +1 reviewed p.T537 0.997 75 0% 103 39.8% 11 81.8% - - - HMMPfam_CH,HMMSmart_CH,superfamily_Calponin-homology PLS1 5357 genome.wustl.edu 37 3 142430410 142430410 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145319.1 +1 reviewed p.R566H 1.000 177 0% 218 32.6% 13 46.1% possibly_damaging(0.925) deleterious(0.01) deleterious(0.779) HMMPfam_CH,HMMSmart_CH,superfamily_Calponin-homology PAQR9 344838 genome.wustl.edu 37 3 142681065 142681065 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198504.2 -1 validated p.E372K 0.106 72 0% 92 34.8% 0 - benign(0.015) tolerated(0.27) neutral(0.034) NULL PLOD2 5352 genome.wustl.edu 37 3 145878681 145878681 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182943.2 -1 reviewed p.S32 0.000 12 0% 10 40% 5 0% - - - NULL PLSCR4 57088 genome.wustl.edu 37 3 145914465 145914465 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020353.2 -1 validated p.R247H 0.001 183 0% 169 33.7% 3 0% probably_damaging(0.974) tolerated(0.53) neutral(0.423) HMMPfam_Scramblase PLSCR2 57047 genome.wustl.edu 37 3 146173169 146173169 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020359.1 -1 provisional p.D60Y 0.984 191 0.5% 170 30.6% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Scramblase ZIC1 7545 genome.wustl.edu 37 3 147131143 147131143 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000488404 +1 known p.S72Y 1.000 146 0% 244 35.2% 120 50% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers AGTR1 185 genome.wustl.edu 37 3 148459793 148459793 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000685.4 +1 reviewed p.A324V 0.997 143 0% 203 36% 1 0% benign(0) tolerated(1) - superfamily_Family A G protein-coupled receptor-like CPB1 1360 genome.wustl.edu 37 3 148562487 148562487 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001871.2 +1 reviewed p.R237 1.000 209 0% 163 32.5% 0 - - - - HMMPfam_Peptidase_M14,HMMSmart_SM00631,superfamily_Zn-dependent exopeptidases CPA3 1359 genome.wustl.edu 37 3 148600365 148600365 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001870.2 +1 reviewed p.F254C 1.000 138 0% 145 35.9% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Peptidase_M14,HMMSmart_SM00631,superfamily_Zn-dependent exopeptidases HLTF 6596 genome.wustl.edu 37 3 148759286 148759286 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003071.3 -1 reviewed p.Q789 0.999 135 0% 137 36.5% 11 27.2% - - - HMMSmart_SM00184,HMMPfam_zf-C3HC4,superfamily_RING/U-box HLTF 6596 genome.wustl.edu 37 3 148766718 148766718 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003071.3 -1 reviewed p.R563Q 1.000 360 0% 443 33.9% 7 57.1% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_SNF2_N,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases HLTF 6596 genome.wustl.edu 37 3 148802585 148802585 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003071.3 -1 reviewed p.E38* 1.000 136 0% 275 32% 1 100% - - - NULL CP 1356 genome.wustl.edu 37 3 148905986 148905986 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000096.3 -1 reviewed p.D573Y 0.967 135 0% 122 36.1% 8 12.5% benign(0.181) tolerated(0.05) neutral(0.362) superfamily_Cupredoxins TM4SF18 116441 genome.wustl.edu 37 3 149040145 149040145 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138786.3 -1 validated p.S163 0.999 137 0% 168 28.6% 1 0% - - - HMMPfam_L6_membrane WWTR1 25937 genome.wustl.edu 37 3 149238745 149238745 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015472.4 -1 validated p.I350 0.555 262 0% 409 31.1% 55 32.7% - - - NULL COMMD2 51122 genome.wustl.edu 37 3 149469151 149469151 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000483708 -1 known p.F89L 0.000 135 0% 270 33.7% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ANKUB1 389161 genome.wustl.edu 37 3 149485514 149485514 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001144960.1 -1 predicted p.I312T 1.000 95 0% 144 45.1% 0 - probably_damaging(0.99) deleterious(0.02) deleterious(0.825) NULL TSC22D2 9819 genome.wustl.edu 37 3 150176284 150176284 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014779.2 +1 provisional p.S735Y 1.000 145 0% 196 40.3% 15 46.6% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_TSC22 EIF2A 83939 genome.wustl.edu 37 3 150281397 150281397 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032025.3 +1 validated p.N130H 1.000 65 0% 72 31.9% 27 29.6% possibly_damaging(0.658) deleterious(0.04) deleterious(0.582) superfamily_WD40 repeat-like FAM194A 131831 genome.wustl.edu 37 3 150384632 150384632 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152394.3 -1 validated p.S557Y 0.464 198 0% 385 36.1% 0 - benign(0.012) tolerated(1) neutral(0.001) NULL FAM194A 131831 genome.wustl.edu 37 3 150384787 150384787 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152394.3 -1 validated p.I505 0.649 185 0% 301 34.6% 0 - - - - NULL GPR171 29909 genome.wustl.edu 37 3 150916334 150916334 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013308.3 -1 validated p.F280 0.944 124 0% 157 28% 2 0% - - - HMMPfam_7tm_1,superfamily_SSF81321 P2RY13 53829 genome.wustl.edu 37 3 151045887 151045887 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_176894.2 -1 reviewed p.F319L 0.999 329 0% 233 57.5% 0 - benign(0.013) tolerated(0.27) neutral(0.034) superfamily_Family A G protein-coupled receptor-like MED12L 116931 genome.wustl.edu 37 3 151105609 151105609 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_053002.4 +1 reviewed p.V1665 0.999 108 0% 134 29.9% 0 - - - - NULL MED12L 116931 genome.wustl.edu 37 3 151105932 151105932 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_053002.4 +1 reviewed p.R1773L 1.000 69 0% 113 43.4% 0 - possibly_damaging(0.833) tolerated(0.05) deleterious(0.663) NULL MED12L 116931 genome.wustl.edu 37 3 151131060 151131060 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_053002.4 +1 reviewed p.R2057* 0.955 82 0% 102 40.2% 0 - - - - NULL IGSF10 285313 genome.wustl.edu 37 3 151171430 151171430 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178822.4 -1 validated p.N153D 0.998 127 0% 141 32.6% 0 - benign(0.051) deleterious(0) neutral(0.448) HMMSmart_SM00369,superfamily_L domain-like AADAC 13 genome.wustl.edu 37 3 151531964 151531964 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001086.2 +1 reviewed p.S5L 0.000 159 0% 193 32.1% 5 80% benign(0.001) tolerated(0.19) neutral(0.050) NULL C3orf79 152118 genome.wustl.edu 37 3 153220233 153220233 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001101337.1 +1 provisional p.F89V 0.079 149 0% 159 37.7% 0 - unknown(0) - - NULL DHX36 170506 genome.wustl.edu 37 3 154002693 154002693 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020865.2 -1 validated p.M705I 1.000 152 0% 163 31.3% 21 28.5% possibly_damaging(0.531) tolerated(0.09) deleterious(0.475) HMMPfam_HA2,superfamily_SSF52540 DHX36 170506 genome.wustl.edu 37 3 154013122 154013122 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020865.2 -1 validated p.F519C 1.000 58 0% 65 33.8% 9 22.2% benign(0.045) tolerated(0.41) neutral(0.017) HMMPfam_Helicase_C,HMMSmart_HELICc,superfamily_SSF52540 DHX36 170506 genome.wustl.edu 37 3 154029441 154029441 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020865.2 -1 validated p.S209L 1.000 68 0% 37 43.2% 3 0% benign(0.361) deleterious(0.01) deleterious(0.520) HMMSmart_DEXDc,superfamily_SSF52540 DHX36 170506 genome.wustl.edu 37 3 154041969 154041969 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020865.2 -1 validated p.R79 0.901 54 0% 83 25.3% 0 - - - - NULL GPR149 344758 genome.wustl.edu 37 3 154055916 154055916 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001038705.1 -1 provisional p.E590* 1.000 191 0% 155 24.5% 0 - - - - NULL GPR149 344758 genome.wustl.edu 37 3 154147181 154147181 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001038705.1 -1 provisional p.S75F 1.000 61 0% 94 40.4% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL MME 4311 genome.wustl.edu 37 3 154889945 154889945 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000902.3 +1 reviewed p.L674V 0.994 246 0% 149 32.9% 0 - benign(0.022) tolerated(0.3) neutral(0.030) "HMMPfam_Peptidase_M13,superfamily_Metalloproteases (""zincins"") catalytic domain" SLC33A1 9197 genome.wustl.edu 37 3 155547593 155547593 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004733.2 -1 reviewed p.S456P 1.000 92 0% 182 26.4% 35 42.8% possibly_damaging(0.908) deleterious(0.04) deleterious(0.710) superfamily_MFS general substrate transporter GMPS 8833 genome.wustl.edu 37 3 155640024 155640024 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003875.2 +1 reviewed p.C456F 1.000 101 0% 113 27.4% 34 38.2% benign(0.001) tolerated(0.7) neutral(0.002) superfamily_Adenine nucleotide alpha hydrolases-like GMPS 8833 genome.wustl.edu 37 3 155655429 155655429 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003875.2 +1 reviewed p.R677Q 1.000 157 0% 122 25.4% 41 41.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GMP_synt_C,superfamily_GMP synthetase C-terminal dimerisation domain VEPH1 79674 genome.wustl.edu 37 3 157031515 157031515 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024621.2 -1 validated p.Q635H 0.928 122 0% 167 25.1% 2 0% benign(0.001) tolerated(0.32) neutral(0.024) NULL VEPH1 79674 genome.wustl.edu 37 3 157082206 157082206 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024621.2 -1 validated p.K408R 1.000 488 0% 445 35.5% 0 - probably_damaging(0.996) tolerated(0.18) deleterious(0.518) NULL VEPH1 79674 genome.wustl.edu 37 3 157131796 157131796 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024621.2 -1 validated p.E260D 1.000 203 0% 153 34% 0 - benign(0.02) tolerated(0.35) neutral(0.022) NULL VEPH1 79674 genome.wustl.edu 37 3 157213102 157213102 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024621.2 -1 validated p.D13Y 1.000 242 0% 225 35.6% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL RSRC1 51319 genome.wustl.edu 37 3 157840003 157840003 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016625.2 +1 provisional p.R37Q 1.000 148 0% 211 31.8% 14 35.7% unknown(0) deleterious(0.02) - NULL MLF1 4291 genome.wustl.edu 37 3 158317907 158317907 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022443.3 +1 validated p.K171N 1.000 88 0% 99 32.3% 77 45.4% probably_damaging(0.994) deleterious(0.01) deleterious(0.858) HMMPfam_Mlf1IP RARRES1 5918 genome.wustl.edu 37 3 158422610 158422610 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_206963.1 -1 reviewed p.Y214* 0.145 145 0% 211 34.1% 12 0% - - - HMMPfam_Latexin MFSD1 64747 genome.wustl.edu 37 3 158527072 158527072 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022736.2 +1 validated p.R182I 1.000 151 0% 122 32% 16 12.5% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_MFS_1,superfamily_MFS general substrate transporter MFSD1 64747 genome.wustl.edu 37 3 158531787 158531787 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022736.2 +1 validated p.L195 0.998 288 0% 386 30.3% 26 30.7% - - - HMMPfam_MFS_1,superfamily_MFS general substrate transporter SCHIP1 29970 genome.wustl.edu 37 3 159605510 159605510 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014575.2 +1 provisional p.S337Y 1.000 132 0% 170 28.2% 3 0% probably_damaging(0.991) tolerated(0.19) deleterious(0.493) HMMPfam_SCHIP-1 IFT80 57560 genome.wustl.edu 37 3 160000331 160000331 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020800.1 -1 validated p.K484T 1.000 158 0% 120 24.2% 6 33.3% possibly_damaging(0.926) deleterious(0.02) deleterious(0.758) superfamily_Cyt_cd1_haem_C IFT80 57560 genome.wustl.edu 37 3 160037566 160037566 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020800.1 -1 validated p.T313 0.993 231 0.4% 112 43.8% 4 75% - - - superfamily_Cyt_cd1_haem_C SMC4 10051 genome.wustl.edu 37 3 160120474 160120474 + Missense_Mutation SNP G G C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001002800.1 +1 validated p.C110S 1.000 114 0% 128 34.4% 2 50% benign(0) tolerated(0.57) neutral(0.006) HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases SMC4 10051 genome.wustl.edu 37 3 160135597 160135597 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001002800.1 +1 validated p.I508 1.000 123 0% 119 31.9% 10 70% - - - HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases SMC4 10051 genome.wustl.edu 37 3 160149471 160149471 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001002800.1 +1 validated p.I1052S 0.987 75 0% 81 35.8% 44 34% benign(0) tolerated(0.73) neutral(0.002) HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases SMC4 10051 genome.wustl.edu 37 3 160151484 160151484 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001002800.1 +1 validated p.R1252* 1.000 96 1% 113 23.9% 32 43.7% - - - HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases KPNA4 3840 genome.wustl.edu 37 3 160233252 160233252 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002268.3 -1 reviewed p.E340D 1.000 187 0% 298 26.2% 39 53.8% benign(0.026) tolerated(0.38) neutral(0.019) HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat B3GALNT1 8706 genome.wustl.edu 37 3 160804232 160804232 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001038628.1 -1 reviewed p.K104T 0.927 175 0% 220 31.4% 3 100% benign(0.315) deleterious(0) deleterious(0.543) HMMPfam_Galactosyl_T SI 6476 genome.wustl.edu 37 3 164700169 164700169 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001041.3 -1 reviewed p.R1759S 0.169 422 0% 265 25.7% 0 - benign(0) tolerated(0.91) - NULL SI 6476 genome.wustl.edu 37 3 164724711 164724711 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001041.3 -1 reviewed p.F1433L 1.000 143 0% 138 37.7% 0 - benign(0.002) tolerated(0.65) neutral(0.003) HMMPfam_Glyco_hydro_31,superfamily_(Trans)glycosidases SI 6476 genome.wustl.edu 37 3 164757713 164757713 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001041.3 -1 reviewed p.W736R 1.000 205 0% 171 26.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glyco_hydro_31 SI 6476 genome.wustl.edu 37 3 164764639 164764639 + Frame_Shift_Del DEL C C - novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001041.3 -1 reviewed p.G626fs 1.000 - - - - - - - - - HMMPfam_Glyco_hydro_31,superfamily_(Trans)glycosidases SLITRK3 22865 genome.wustl.edu 37 3 164905894 164905894 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014926.2 -1 validated p.K909E 1.000 196 0% 193 33.2% 0 - benign(0.247) deleterious(0.02) neutral(0.408) NULL SLITRK3 22865 genome.wustl.edu 37 3 164907386 164907386 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014926.2 -1 validated p.K411N 1.000 207 0% 296 30.4% 0 - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) superfamily_SSF52058 BCHE 590 genome.wustl.edu 37 3 165547987 165547987 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000055.2 -1 reviewed p.G279S 0.782 134 0% 106 34% 0 - possibly_damaging(0.835) deleterious(0.01) deleterious(0.724) HMMPfam_COesterase,superfamily_SSF53474 ZBBX 79740 genome.wustl.edu 37 3 166958694 166958694 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024687.2 -1 validated p.D764Y 0.988 271 0% 166 27.1% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL ZBBX 79740 genome.wustl.edu 37 3 167000227 167000227 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024687.2 -1 validated p.E646* 0.000 147 0% 177 31.6% 1 0% - - - NULL ZBBX 79740 genome.wustl.edu 37 3 167023502 167023502 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024687.2 -1 validated p.E552* 0.016 163 0% 141 29.8% 1 0% - - - NULL ZBBX 79740 genome.wustl.edu 37 3 167090644 167090644 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024687.2 -1 validated p.N16H 1.000 101 0% 89 33.7% 0 - probably_damaging(0.991) tolerated(0.08) deleterious(0.744) NULL SERPINI2 5276 genome.wustl.edu 37 3 167184889 167184889 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006217.3 -1 reviewed p.K144N 0.905 244 0% 156 36.5% 0 - possibly_damaging(0.739) tolerated(0.44) neutral(0.283) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin SERPINI2 5276 genome.wustl.edu 37 3 167189541 167189541 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006217.3 -1 reviewed p.E28K 0.729 275 0% 170 22.9% 0 - possibly_damaging(0.471) deleterious(0.01) deleterious(0.561) HMMPfam_Serpin,superfamily_Prot_inh_serpin WDR49 151790 genome.wustl.edu 37 3 167218008 167218008 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178824.3 -1 provisional p.E636D 0.974 141 0% 167 40.1% 0 - benign(0) tolerated(0.36) neutral(0.020) NULL WDR49 151790 genome.wustl.edu 37 3 167248990 167248990 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178824.3 -1 provisional p.V359I 0.001 227 0% 188 30.3% 0 - benign(0.265) tolerated(0.93) neutral(0.028) HMMSmart_SM00320,superfamily_WD40 repeat-like SERPINI1 5274 genome.wustl.edu 37 3 167508281 167508281 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001122752.1 +1 reviewed p.F124L 0.998 185 0% 204 31.4% 2 50% possibly_damaging(0.944) deleterious(0.01) deleterious(0.794) HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins GOLIM4 27333 genome.wustl.edu 37 3 167728167 167728167 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014498.3 -1 reviewed p.R661* 0.027 257 0% 339 29.2% 36 38.8% - - - NULL ARPM1 84517 genome.wustl.edu 37 3 169485414 169485414 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032487.4 -1 validated p.R309W 0.998 127 0% 209 29.2% 5 40% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Actin,HMMSmart_ACTIN,superfamily_SSF53067 LRRIQ4 344657 genome.wustl.edu 37 3 169555413 169555413 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080460.1 +1 provisional p.K559N 1.000 101 0% 165 32.1% 0 - unknown(0) - - NULL LRRC31 79782 genome.wustl.edu 37 3 169557829 169557829 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024727.2 -1 validated p.E534* 0.012 174 0% 260 30.8% 0 - - - - NULL SAMD7 344658 genome.wustl.edu 37 3 169644785 169644785 + Silent SNP G G A rs187673683 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182610.2 +1 provisional p.T245 0.000 80 0% 156 34% 0 - - - - NULL SAMD7 344658 genome.wustl.edu 37 3 169644816 169644816 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182610.2 +1 provisional p.E256K 0.075 71 0% 139 31.7% 0 - benign(0.079) tolerated(0.18) neutral(0.061) NULL SAMD7 344658 genome.wustl.edu 37 3 169654199 169654199 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000492527 +1 known p.W46* 1.000 153 0% 203 41.9% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_SAM_1,superfamily_SAM/Pointed domain EIF5A2 56648 genome.wustl.edu 37 3 170625563 170625563 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020390.5 -1 validated p.D11 0.536 107 0% 169 29.6% 0 - - - - NULL SLC2A2 6514 genome.wustl.edu 37 3 170716177 170716177 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000340.1 -1 reviewed p.F393 0.000 41 0% 26 34.6% 0 - - - - HMMPfam_Sugar_tr,superfamily_MFS_gen_substrate_transporter TNIK 23043 genome.wustl.edu 37 3 170819244 170819244 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015028.2 -1 validated p.R862K 1.000 312 0% 207 35.3% 1 0% benign(0) tolerated(0.19) neutral(0.050) NULL TNIK 23043 genome.wustl.edu 37 3 170843941 170843941 + Splice_Site SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015028.2 -1 validated e17-1 1.000 83 0% 115 27.8% 0 - - - - - PLD1 5337 genome.wustl.edu 37 3 171410153 171410153 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002662.3 -1 validated p.R436M 1.000 218 0% 247 27.1% 1 0% probably_damaging(0.981) deleterious(0.02) deleterious(0.808) superfamily_Phospholipase D/nuclease GHSR 2693 genome.wustl.edu 37 3 172165473 172165473 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198407.2 -1 reviewed p.R244H 1.000 37 0% 38 36.8% 0 - benign(0.287) deleterious(0.03) neutral(0.453) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ECT2 1894 genome.wustl.edu 37 3 172480572 172480572 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018098.4 +1 reviewed p.K296N 1.000 235 0% 284 32% 11 54.5% benign(0.019) tolerated(0.44) neutral(0.014) HMMPfam_BRCT,HMMSmart_SM00292,superfamily_BRCT domain ECT2 1894 genome.wustl.edu 37 3 172491806 172491806 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018098.4 +1 reviewed p.K483N 1.000 189 0% 317 28.4% 5 80% benign(0.001) tolerated(0.53) neutral(0.007) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) SPATA16 83893 genome.wustl.edu 37 3 172607463 172607463 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031955.5 -1 reviewed p.F536C 1.000 180 0% 145 37.9% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SPATA16 83893 genome.wustl.edu 37 3 172834946 172834946 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031955.5 -1 reviewed p.Y192 0.161 229 0% 268 28.7% 0 - - - - superfamily_TPR-like SPATA16 83893 genome.wustl.edu 37 3 172835474 172835474 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031955.5 -1 reviewed p.I16 0.000 287 0% 292 38% 0 - - - - NULL NAALADL2 254827 genome.wustl.edu 37 3 175520944 175520944 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_207015.2 +1 validated p.K781E 1.000 290 0% 139 34.5% 0 - possibly_damaging(0.767) tolerated(0.06) deleterious(0.607) superfamily_Transferrin receptor ectodomain C-terminal domain ZMAT3 64393 genome.wustl.edu 37 3 178742823 178742823 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022470.3 -1 reviewed p.E284D 1.000 213 0% 276 33.3% 2 0% possibly_damaging(0.942) deleterious(0) deleterious(0.832) NULL PIK3CA 5290 genome.wustl.edu 37 3 178916648 178916648 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006218.2 +1 reviewed p.G12D 1.000 54 0% 94 42.6% 2 50% probably_damaging(0.996) deleterious(0.04) deleterious(0.810) NULL PIK3CA 5290 genome.wustl.edu 37 3 178928068 178928068 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006218.2 +1 reviewed p.P449L 1.000 231 0% 305 29.2% 4 25% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PI3K_C2,superfamily_C2_CaLB PIK3CA 5290 genome.wustl.edu 37 3 178936023 178936023 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006218.2 +1 reviewed p.E522A 1.000 98 0% 75 25.3% 3 0% benign(0) tolerated(0.41) neutral(0.015) HMMPfam_PI3Ka,HMMSmart_PI3Ka,superfamily_ARM-type_fold GNB4 59345 genome.wustl.edu 37 3 179137238 179137238 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021629.3 -1 reviewed p.L51P 1.000 267 0% 253 34% 3 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 NDUFB5 4711 genome.wustl.edu 37 3 179341807 179341807 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000482604 +1 known p.R200Q 0.940 155 0% 257 21.4% 76 22.3% - - - HMMPfam_NDUF_B5 USP13 8975 genome.wustl.edu 37 3 179424772 179424772 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003940.2 +1 validated p.K176N 1.000 135 0% 224 31.2% 1 0% possibly_damaging(0.619) deleterious(0.01) deleterious(0.621) NULL CCDC39 339829 genome.wustl.edu 37 3 180334342 180334342 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_181426.1 -1 validated p.T850A 1.000 134 0% 96 30.2% 0 - unknown(0) - - NULL CCDC39 339829 genome.wustl.edu 37 3 180359914 180359914 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_181426.1 -1 validated p.E581* 1.000 298 0% 401 33.9% 0 - - - - NULL CCDC39 339829 genome.wustl.edu 37 3 180377361 180377361 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_181426.1 -1 validated p.L206W 1.000 522 0% 596 36.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL MCF2L2 23101 genome.wustl.edu 37 3 182923938 182923938 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015078.2 -1 validated p.R926Q 0.005 209 0% 344 30.5% 0 - benign(0.009) tolerated(0.66) neutral(0.003) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like MCF2L2 23101 genome.wustl.edu 37 3 182941944 182941944 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015078.2 -1 validated p.K717T 1.000 157 0% 227 38.3% 0 - probably_damaging(0.957) deleterious(0) deleterious(0.845) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) MCF2L2 23101 genome.wustl.edu 37 3 183035909 183035909 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015078.2 -1 validated p.L234I 0.309 86 0% 196 33.7% 0 - benign(0.01) tolerated(0.26) neutral(0.035) NULL KLHL6 89857 genome.wustl.edu 37 3 183245782 183245782 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_130446.2 -1 validated p.D104Y 1.000 214 0% 338 34.9% 0 - benign(0.267) deleterious(0.03) neutral(0.393) HMMSmart_BTB,superfamily_BTB/POZ_fold,HMMPfam_BTB KLHL24 54800 genome.wustl.edu 37 3 183368711 183368711 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017644.3 +1 validated p.N189K 0.560 172 0% 266 33.8% 10 40% benign(0) tolerated(0.53) neutral(0.007) HMMPfam_BACK HTR3D 200909 genome.wustl.edu 37 3 183756601 183756601 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145143.1 +1 reviewed p.G351 0.000 135 0% 166 34.9% 0 - - - - HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore AP2M1 1173 genome.wustl.edu 37 3 183899975 183899975 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004068.3 +1 reviewed p.Q334* 1.000 123 0% 261 21.8% 213 4.2% - - - HMMPfam_Adap_comp_sub,superfamily_Second domain of Mu2 adaptin subunit (ap50) of ap2 adaptor ABCF3 55324 genome.wustl.edu 37 3 183908823 183908823 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018358.2 +1 validated p.V476 0.441 212 0% 337 30.6% 55 50.9% - - - NULL VWA5B2 90113 genome.wustl.edu 37 3 183952069 183952069 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138345.1 +1 provisional p.S235Y 1.000 57 0% 53 32.1% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL VWA5B2 90113 genome.wustl.edu 37 3 183957737 183957737 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138345.1 +1 provisional p.A885T 1.000 39 0% 32 34.4% 0 - benign(0.127) tolerated(1) neutral(0.011) NULL VWA5B2 90113 genome.wustl.edu 37 3 183959012 183959012 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138345.1 +1 provisional p.S1000 0.000 41 0% 54 24.1% 0 - - - - NULL PSMD2 5708 genome.wustl.edu 37 3 184023682 184023682 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002808.3 +1 reviewed p.R556C 1.000 125 0% 229 35.4% 159 43.3% probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_ARM-type_fold EIF4G1 1981 genome.wustl.edu 37 3 184043161 184043161 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000448284 +1 known p.G39E 1.000 89 0% 159 39.6% 151 29.8% - - - HMMPfam_MIF4G,superfamily_ARM repeat FAM131A 131408 genome.wustl.edu 37 3 184056210 184056210 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000383847 +1 known p.E42K 0.998 86 0% 111 25.2% 3 33.3% possibly_damaging(0.653) tolerated(0.18) neutral(0.286) NULL CLCN2 1181 genome.wustl.edu 37 3 184076907 184076907 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004366.4 -1 reviewed p.Y26H 0.998 34 0% 39 20.5% 7 57.1% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CHRD 8646 genome.wustl.edu 37 3 184100704 184100704 + Missense_Mutation SNP T T A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003741.2 +1 reviewed p.L348H 1.000 99 0% 179 33.5% 12 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_CHRD,HMMSmart_SM00754 EPHB3 2049 genome.wustl.edu 37 3 184290385 184290385 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004443.3 +1 reviewed p.R93C 0.999 61 0% 102 38.2% 15 46.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ephrin_lbd,HMMSmart_EPH_lbd,superfamily_Gal_bind_like VPS8 23355 genome.wustl.edu 37 3 184658007 184658007 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001009921.2 +1 validated p.F1004C 1.000 62 0% 54 38.9% 12 58.3% probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_ARM-type_fold VPS8 23355 genome.wustl.edu 37 3 184714156 184714156 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001009921.2 +1 validated p.D1235Y 1.000 98 0% 164 32.9% 24 45.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL C3orf70 285382 genome.wustl.edu 37 3 184870451 184870451 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001025266.1 -1 predicted p.K54T 1.000 23 0% 22 50% 0 - possibly_damaging(0.564) deleterious(0) deleterious(0.637) NULL EHHADH 1962 genome.wustl.edu 37 3 184910795 184910795 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001966.3 -1 reviewed p.K464T 1.000 181 0% 232 35.8% 0 - unknown(0) deleterious(0) - HMMPfam_3HCDH_N,superfamily_NAD(P)-bd MAP3K13 9175 genome.wustl.edu 37 3 185146804 185146804 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004721.3 +1 reviewed p.I145 1.000 175 0% 325 32.9% 1 0% - - - NULL LIPH 200879 genome.wustl.edu 37 3 185252652 185252652 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_139248.2 -1 reviewed p.V106 0.987 140 0% 275 26.9% 0 - - - - HMMPfam_Lipase,superfamily_SSF53474 SENP2 59343 genome.wustl.edu 37 3 185327066 185327066 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021627.2 +1 validated p.R217Q 0.001 124 0% 225 29.8% 9 55.5% benign(0.001) tolerated(0.12) neutral(0.261) NULL TRA2B 6434 genome.wustl.edu 37 3 185643274 185643274 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004593.2 -1 validated p.R104H 1.000 150 0% 220 31.8% 120 41.6% unknown(0) deleterious(0.02) - superfamily_RNA-binding domain RBD AHSG 197 genome.wustl.edu 37 3 186331026 186331026 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001622.2 +1 reviewed p.C32 0.996 109 0% 137 33.6% 0 - - - - HMMSmart_SM00043,PatternScan_FETUIN_1,superfamily_Cystatin/monellin FETUB 26998 genome.wustl.edu 37 3 186358248 186358248 + Splice_Site SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000450521 +1 known e1-1 0.988 72 0% 63 38.1% 0 - - - - - HRG 3273 genome.wustl.edu 37 3 186389534 186389534 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000412.2 +1 reviewed p.F172V 0.597 139 0% 205 27.3% 0 - possibly_damaging(0.563) tolerated(0.48) neutral(0.203) HMMSmart_SM00043,superfamily_Cystatin/monellin MASP1 5648 genome.wustl.edu 37 3 186953583 186953583 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_139125.3 -1 reviewed p.C692 1.000 133 0% 143 35% 8 0% - - - HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys MASP1 5648 genome.wustl.edu 37 3 187003856 187003856 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000392475 -1 known p.F5L 0.012 35 0% 52 36.5% 0 - benign(0) deleterious(0) neutral(0.445) NULL RTP2 344892 genome.wustl.edu 37 3 187419770 187419770 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004312.2 -1 validated p.E49D 0.995 73 0% 95 29.5% 0 - probably_damaging(0.987) tolerated(0.11) deleterious(0.708) NULL LPP 4026 genome.wustl.edu 37 3 188202382 188202382 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005578.3 +1 reviewed p.D66N 1.000 373 0% 499 30.1% 4 25% benign(0.139) tolerated(0.21) neutral(0.056) NULL TP63 8626 genome.wustl.edu 37 3 189587156 189587156 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003722.4 +1 reviewed p.K391N 1.000 195 0% 220 35% 3 33.3% probably_damaging(0.986) tolerated(0.06) deleterious(0.757) HMMPfam_P53_tetramer TP63 8626 genome.wustl.edu 37 3 189612028 189612028 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003722.4 +1 reviewed p.R594* 1.000 160 0% 176 33% 3 66.6% - - - HMMSmart_SM00454,superfamily_SAM/Pointed domain,HMMPfam_SAM_2 LEPREL1 55214 genome.wustl.edu 37 3 189706741 189706741 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018192.3 -1 validated p.F304V 1.000 142 0% 244 32.4% 1 0% possibly_damaging(0.466) deleterious(0) deleterious(0.598) superfamily_TPR-like LEPREL1 55214 genome.wustl.edu 37 3 189711931 189711931 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018192.3 -1 validated p.E259* 1.000 146 0% 165 30.9% 6 0% - - - superfamily_TPR-like LEPREL1 55214 genome.wustl.edu 37 3 189713220 189713220 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018192.3 -1 validated p.L164 0.996 156 0% 195 31.8% 1 0% - - - superfamily_TPR-like CCDC50 152137 genome.wustl.edu 37 3 191098622 191098622 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178335.2 +1 reviewed p.I381 0.993 263 0% 160 37.5% 23 30.4% - - - NULL FGF12 2257 genome.wustl.edu 37 3 192053206 192053206 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021032.3 -1 reviewed p.G120* 1.000 90 0% 51 54.9% 7 28.5% - - - HMMPfam_FGF,HMMSmart_SM00442,superfamily_Cytokine HRASLS 57110 genome.wustl.edu 37 3 192980900 192980900 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020386.3 +1 validated p.P94L 0.998 189 0% 229 32.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_NC ATP13A5 344905 genome.wustl.edu 37 3 193036799 193036799 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198505.2 -1 provisional p.E672* 0.984 120 0% 122 23% 0 - - - - superfamily_SSF81660,superfamily_SSF81665 ATP13A4 84239 genome.wustl.edu 37 3 193183941 193183941 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032279.2 -1 validated p.R382I 1.000 110 0% 185 30.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A,superfamily_Calcium ATPase transmembrane domain M OPA1 4976 genome.wustl.edu 37 3 193364965 193364965 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_130837.2 +1 reviewed p.F622L 1.000 167 0% 180 29.4% 6 50% possibly_damaging(0.889) tolerated(0.18) neutral(0.405) superfamily_P-loop containing nucleoside triphosphate hydrolases OPA1 4976 genome.wustl.edu 37 3 193376775 193376775 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_130837.2 +1 reviewed p.L811F 0.999 230 0% 250 37.2% 13 46.1% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL LRRC15 131578 genome.wustl.edu 37 3 194080534 194080534 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001135057.2 -1 validated p.G419 0.000 110 0% 174 39.7% 2 0% - - - superfamily_L domain-like ATP13A3 79572 genome.wustl.edu 37 3 194146200 194146200 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024524.3 -1 validated p.E1062K 0.009 155 0% 146 31.5% 8 25% benign(0.003) tolerated(0.9) - superfamily_Calcium ATPase transmembrane domain M PPP1R2 5504 genome.wustl.edu 37 3 195243710 195243710 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006241.4 -1 validated p.K201T 1.000 270 0% 418 32.1% 27 40.7% benign(0) deleterious(0.02) neutral(0.383) NULL LOC651714 651714 genome.wustl.edu 37 3 195345691 195345691 + RNA SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XR_078298.1 +1 model NULL 0.060 102 0% 209 17.7% 1 0% benign(0.035) tolerated(0.23) neutral(0.044) - MUC4 4585 genome.wustl.edu 37 3 195511748 195511748 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018406.5 -1 reviewed p.T2235A 0.134 305 0% 1347 10.2% 0 - benign(0.389) - - NULL MUC4 4585 genome.wustl.edu 37 3 195518349 195518349 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018406.5 -1 reviewed p.L34F 0.000 279 0% 556 36.5% 0 - possibly_damaging(0.901) deleterious(0.04) deleterious(0.706) NULL RNF168 165918 genome.wustl.edu 37 3 196199137 196199137 + Silent SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152617.2 -1 provisional p.I423 0.000 194 0% 405 31.9% 9 22.2% - - - NULL LRRC33 375387 genome.wustl.edu 37 3 196387368 196387368 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198565.1 +1 provisional p.G285V 1.000 51 0% 100 31% 1 0% probably_damaging(0.959) tolerated(0.06) deleterious(0.725) NULL PAK2 5062 genome.wustl.edu 37 3 196533551 196533551 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002577.4 +1 reviewed p.T190 0.992 99 0% 254 31.1% 10 40% - - - NULL PAK2 5062 genome.wustl.edu 37 3 196539673 196539673 + Silent SNP C C T rs56386946 TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002577.4 +1 reviewed p.L296 1.000 105 0% 266 30.5% 17 47% - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase MFI2 4241 genome.wustl.edu 37 3 196736574 196736574 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005929.4 -1 reviewed p.F480 0.000 33 0% 34 38.2% 1 0% - - - HMMPfam_Transferrin,HMMSmart_SM00094,superfamily_Periplasmic binding protein-like II MFI2 4241 genome.wustl.edu 37 3 196744120 196744120 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005929.4 -1 reviewed p.D252Y 0.998 23 0% 25 32% 0 - possibly_damaging(0.54) tolerated(0.15) neutral(0.424) HMMPfam_Transferrin,HMMSmart_SM00094,PatternScan_TRANSFERRIN_3,superfamily_Periplasmic binding protein-like II DLG1 1739 genome.wustl.edu 37 3 196842808 196842808 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004087.2 -1 validated p.R511H 0.992 155 0% 178 36.5% 11 36.3% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like FYTTD1 84248 genome.wustl.edu 37 3 197483318 197483318 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032288.6 +1 validated p.R42Q 1.000 142 0% 271 32.5% 11 27.2% possibly_damaging(0.79) deleterious(0.05) deleterious(0.642) HMMPfam_FYTT LRCH3 84859 genome.wustl.edu 37 3 197574755 197574755 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032773.2 +1 provisional p.D465Y 0.978 84 0% 146 36.3% 14 64.2% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_SSF52058 LRCH3 84859 genome.wustl.edu 37 3 197598199 197598199 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032773.2 +1 provisional p.I666V 1.000 179 0% 403 26.1% 15 53.3% possibly_damaging(0.935) tolerated(0.09) deleterious(0.677) superfamily_Calponin-homology IQCG 84223 genome.wustl.edu 37 3 197665622 197665622 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001134435.1 -1 validated p.T104 0.000 213 0% 448 37.3% 7 28.5% - - - NULL LMLN 89782 genome.wustl.edu 37 3 197751533 197751533 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001136049.2 +1 reviewed p.I547M 0.031 158 0% 249 36.5% 3 100% benign(0.004) tolerated(0.11) neutral(0.272) "HMMPfam_Peptidase_M8,superfamily_Metalloproteases (""zincins"") catalytic domain" ZNF732 654254 genome.wustl.edu 37 4 264979 264979 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001137608.1 -1 provisional p.K556T 0.005 136 0% 155 31% 0 - probably_damaging(0.984) deleterious(0) deleterious(0.875) superfamily_SSF57667 ENSG00000186777 0 genome.wustl.edu 37 4 265417 265417 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000341087 -1 known p.E87* 0.601 149 0% 188 39.4% 0 - benign(0.062) tolerated(0.27) neutral(0.038) superfamily_C2H2 and C2HC zinc fingers ZNF141 7700 genome.wustl.edu 37 4 367016 367016 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000240499 +1 known p.F264V 0.995 72 0% 96 34.4% 1 0% probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF721 170960 genome.wustl.edu 37 4 437198 437198 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_133474.2 -1 validated p.R353I 0.219 208 0% 296 36.8% 1 0% benign(0.16) tolerated(0.2) neutral(0.064) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF721 170960 genome.wustl.edu 37 4 437591 437591 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_133474.2 -1 validated p.K222T 0.000 195 0.5% 231 31.2% 0 - possibly_damaging(0.938) deleterious(0.05) deleterious(0.729) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SLC26A1 10861 genome.wustl.edu 37 4 983411 983411 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022042.2 -1 reviewed p.R439Q 0.918 11 0% 11 36.4% 1 0% possibly_damaging(0.706) tolerated(0.51) neutral(0.263) HMMPfam_Sulfate_transp IDUA 3425 genome.wustl.edu 37 4 994704 994704 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000504568 +1 known p.S127* 1.000 138 0% 183 31.7% 7 14.2% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Glyco_hydro_39,superfamily_(Trans)glycosidases TACC3 10460 genome.wustl.edu 37 4 1725222 1725222 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006342.1 +1 reviewed p.S25L 0.021 75 0% 145 32.4% 32 37.5% benign(0.349) tolerated(0.13) neutral(0.363) NULL WHSC1 7468 genome.wustl.edu 37 4 1902610 1902610 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001042424.2 +1 reviewed p.D77N 0.996 49 0% 96 33.3% 15 40% benign(0) deleterious(0.01) neutral(0.406) NULL POLN 353497 genome.wustl.edu 37 4 2097609 2097609 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_181808.2 -1 validated p.K678N 1.000 227 0% 292 35.6% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DNA_pol_A,HMMSmart_SM00482,superfamily_DNA/RNA polymerases POLN 353497 genome.wustl.edu 37 4 2129919 2129919 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_181808.2 -1 validated p.L635V 1.000 176 0% 255 32.5% 1 100% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) HMMPfam_DNA_pol_A,HMMSmart_SM00482,superfamily_DNA/RNA polymerases ZFYVE28 57732 genome.wustl.edu 37 4 2274921 2274921 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020972.2 -1 validated p.D768N 1.000 200 0% 330 32.4% 1 0% probably_damaging(0.989) tolerated(0.05) deleterious(0.785) NULL FAM193A 8603 genome.wustl.edu 37 4 2701544 2701544 + Silent SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003704.3 +1 validated p.L924 0.979 51 0% 65 32.3% 16 37.5% - - - NULL GRK4 2868 genome.wustl.edu 37 4 3029698 3029698 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182982.2 +1 reviewed p.R344* 0.994 200 0% 413 32% 4 50% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase HTT 3064 genome.wustl.edu 37 4 3109047 3109047 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002111.6 +1 reviewed p.R215Q 0.996 114 0% 188 33.5% 6 66.6% probably_damaging(1) tolerated(0.19) deleterious(0.549) superfamily_ARM repeat HTT 3064 genome.wustl.edu 37 4 3180052 3180052 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002111.6 +1 reviewed p.I1497 1.000 224 0% 395 32.7% 5 20% - - - superfamily_ARM repeat HTT 3064 genome.wustl.edu 37 4 3208244 3208244 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002111.6 +1 reviewed p.E1914K 1.000 84 0% 117 27.4% 20 60% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL HTT 3064 genome.wustl.edu 37 4 3235075 3235075 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002111.6 +1 reviewed p.I2817 0.002 14 0% 20 40% 61 40.9% - - - NULL DOK7 285489 genome.wustl.edu 37 4 3475167 3475167 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173660.4 +1 reviewed p.S45 0.133 19 0% 30 40% 2 100% - - - HMMSmart_SM00233,superfamily_PH domain-like ADRA2C 152 genome.wustl.edu 37 4 3768667 3768667 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000683.3 +1 reviewed p.E112K 1.000 62 0% 80 30% 62 12.9% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OTOP1 133060 genome.wustl.edu 37 4 4199535 4199535 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_177998.1 -1 provisional p.K342 0.999 85 0% 119 26.9% 0 - - - - HMMPfam_DUF270 ZBTB49 166793 genome.wustl.edu 37 4 4303733 4303733 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145291.3 +1 validated p.S57Y 1.000 73 0% 97 35.1% 2 50% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB STK32B 55351 genome.wustl.edu 37 4 5448455 5448455 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018401.1 +1 provisional p.V206 0.826 48 0% 68 35.3% 3 33.3% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase EVC2 132884 genome.wustl.edu 37 4 5690897 5690897 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_147127.4 -1 reviewed p.K231N 0.529 103 0% 105 12.4% 1 0% probably_damaging(0.991) tolerated(0.12) deleterious(0.705) NULL JAKMIP1 152789 genome.wustl.edu 37 4 6043910 6043910 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001099433.1 -1 validated p.K691 1.000 295 0% 479 33.8% 0 - - - - NULL JAKMIP1 152789 genome.wustl.edu 37 4 6066641 6066641 + Missense_Mutation SNP C C T rs35130879 TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001099433.1 -1 validated p.R466K 1.000 355 0% 384 25.8% 0 - possibly_damaging(0.775) tolerated(0.57) neutral(0.294) NULL JAKMIP1 152789 genome.wustl.edu 37 4 6087218 6087218 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001099433.1 -1 validated p.R255W 0.999 113 0% 132 29.5% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL WFS1 7466 genome.wustl.edu 37 4 6279277 6279277 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006005.3 +1 reviewed p.S32L 0.653 13 0% 10 50% 12 66.6% benign(0.054) tolerated(0.12) neutral(0.264) NULL MAN2B2 23324 genome.wustl.edu 37 4 6611548 6611548 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015274.1 +1 validated p.T677M 0.000 37 0% 82 29.3% 34 41.1% probably_damaging(0.98) tolerated(0.16) deleterious(0.483) superfamily_Galactose mutarotase-like,HMMPfam_Glyco_hydro_38C KIAA0232 9778 genome.wustl.edu 37 4 6862905 6862905 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001100590.1 +1 validated p.E266* 1.000 83 0% 150 29.3% 3 33.3% - - - NULL KIAA0232 9778 genome.wustl.edu 37 4 6863223 6863223 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001100590.1 +1 validated p.E372* 1.000 63 0% 65 23.1% 5 60% - - - NULL TBC1D14 57533 genome.wustl.edu 37 4 7026977 7026977 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001113361.1 +1 validated p.K668N 1.000 80 0% 129 33.3% 32 43.7% benign(0.424) deleterious(0.02) deleterious(0.520) NULL SORCS2 57537 genome.wustl.edu 37 4 7398045 7398045 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020777.2 +1 reviewed p.A171T 0.958 216 0.5% 339 32.4% 0 - benign(0.004) tolerated(0.53) neutral(0.007) HMMSmart_SM00602,superfamily_Oligoxyloglucan reducing end-specific cellobiohydrolase PSAPL1 768239 genome.wustl.edu 37 4 7435932 7435932 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001085382.1 -1 validated p.K225N 0.899 43 0% 49 34.7% 0 - possibly_damaging(0.944) deleterious(0) deleterious(0.833) HMMSmart_SapB,superfamily_Saposin_like SORCS2 57537 genome.wustl.edu 37 4 7668893 7668893 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020777.2 +1 reviewed p.R372* 0.972 244 0% 291 29.2% 0 - - - - HMMSmart_SM00602,superfamily_Oligoxyloglucan reducing end-specific cellobiohydrolase SORCS2 57537 genome.wustl.edu 37 4 7677878 7677878 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000507866 +1 known p.R388C 0.008 33 0% 34 52.9% 0 - - - - HMMSmart_SM00602,superfamily_Oligoxyloglucan reducing end-specific cellobiohydrolase SORCS2 57537 genome.wustl.edu 37 4 7714542 7714542 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020777.2 +1 reviewed p.E651K 0.856 53 0% 113 33.6% 0 - benign(0.344) tolerated(0.21) neutral(0.152) HMMSmart_SM00602 AFAP1 60312 genome.wustl.edu 37 4 7802370 7802370 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001134647.1 -1 reviewed p.N355 1.000 96 0% 120 30.8% 5 0% - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like SH3TC1 54436 genome.wustl.edu 37 4 8237240 8237240 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018986.3 +1 validated p.F1121 1.000 128 0% 195 40.5% 8 0% - - - superfamily_TPR-like ACOX3 8310 genome.wustl.edu 37 4 8417630 8417630 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003501.2 -1 validated p.R81* 0.988 55 0% 95 36.8% 5 40% - - - superfamily_Acyl-CoA dehydrogenase NM domain-like LOC650293 650293 genome.wustl.edu 37 4 8952058 8952058 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001040071.1 +1 provisional p.R194S 0.045 248 0% 338 38.8% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 ENSG00000219492 0 genome.wustl.edu 37 4 9386221 9386221 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000508324 -1 known p.K141N 1.000 161 0% 166 35.5% 0 - possibly_damaging(0.918) deleterious(0.02) deleterious(0.752) superfamily_C2H2 and C2HC zinc fingers ENSG00000219492 0 genome.wustl.edu 37 4 9386323 9386323 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000508324 -1 known p.E107D 0.649 192 0% 163 23.9% 0 - benign(0.014) tolerated(0.09) neutral(0.297) NULL DEFB131 644414 genome.wustl.edu 37 4 9452221 9452221 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001040448.2 +1 validated p.D65G 0.001 108 0% 145 26.2% 0 - benign(0.016) tolerated(0.48) neutral(0.011) NULL ZNF518B 85460 genome.wustl.edu 37 4 10445435 10445435 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_053042.2 -1 validated p.E840K 0.008 156 0% 165 28.5% 6 33.3% benign(0.026) deleterious(0) neutral(0.446) NULL ZNF518B 85460 genome.wustl.edu 37 4 10446965 10446965 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_053042.2 -1 validated p.T330P 0.995 156 0% 203 35% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL HS3ST1 9957 genome.wustl.edu 37 4 11400742 11400742 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005114.2 -1 reviewed p.F296L 1.000 81 0% 94 39.4% 18 33.3% probably_damaging(0.974) deleterious(0) deleterious(0.861) HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases BOD1L 259282 genome.wustl.edu 37 4 13578576 13578576 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_148894.2 -1 validated p.S2975Y 0.998 315 0% 410 31.7% 20 35% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL BOD1L 259282 genome.wustl.edu 37 4 13584298 13584298 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_148894.2 -1 validated p.T2832 0.000 288 0% 385 27% 11 36.3% - - - NULL BOD1L 259282 genome.wustl.edu 37 4 13602500 13602500 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_148894.2 -1 validated p.Y2008 0.035 156 0% 329 36.8% 8 62.5% - - - superfamily_SSF81995 BOD1L 259282 genome.wustl.edu 37 4 13606162 13606162 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_148894.2 -1 validated p.E788K 1.000 380 0% 427 30.7% 1 0% probably_damaging(0.998) tolerated(0.06) deleterious(0.797) superfamily_SSF81995 CC2D2A 57545 genome.wustl.edu 37 4 15554924 15554924 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080522.2 +1 reviewed p.R828W 0.004 109 0% 138 31.9% 0 - probably_damaging(0.982) deleterious(0.02) deleterious(0.809) NULL CC2D2A 57545 genome.wustl.edu 37 4 15562175 15562175 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080522.2 +1 reviewed p.R982C 1.000 119 0% 100 22% 1 100% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL CC2D2A 57545 genome.wustl.edu 37 4 15601207 15601207 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080522.2 +1 reviewed p.R1518W 0.956 96 1% 125 27.2% 5 60% probably_damaging(0.998) tolerated(0.06) deleterious(0.797) NULL FBXL5 26234 genome.wustl.edu 37 4 15627353 15627353 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012161.2 -1 reviewed p.E458* 1.000 183 0% 377 30.2% 28 17.8% - - - superfamily_RNI-like FBXL5 26234 genome.wustl.edu 37 4 15627543 15627543 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000513163 -1 known p.E315K 0.998 32 0% 42 31% 11 9% - - - HMMPfam_LRR_1,HMMSmart_SM00367,superfamily_RNI-like PROM1 8842 genome.wustl.edu 37 4 16010606 16010606 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006017.2 -1 reviewed p.N423H 0.000 129 0% 231 35.5% 6 16.6% benign(0) tolerated(0.5) neutral(0.010) HMMPfam_Prominin PROM1 8842 genome.wustl.edu 37 4 16037372 16037372 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006017.2 -1 reviewed p.I97L 0.767 194 0% 288 41.3% 0 - benign(0) tolerated(0.12) neutral(0.261) HMMPfam_Prominin TAPT1 202018 genome.wustl.edu 37 4 16165010 16165010 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153365.2 -1 reviewed p.S542Y 0.300 311 0% 407 36.6% 21 52.3% possibly_damaging(0.684) deleterious(0) deleterious(0.689) NULL LAP3 51056 genome.wustl.edu 37 4 17581474 17581474 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015907.2 +1 validated p.E44* 1.000 346 0% 531 30.9% 12 8.3% - - - HMMPfam_Peptidase_M17_N,superfamily_Macro domain-like LAP3 51056 genome.wustl.edu 37 4 17597154 17597154 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015907.2 +1 validated p.I329L 0.460 94 0% 193 31.6% 35 14.2% benign(0.038) tolerated(0.43) neutral(0.015) HMMPfam_Peptidase_M17,superfamily_Zn-dependent exopeptidases LAP3 51056 genome.wustl.edu 37 4 17608497 17608497 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015907.2 +1 validated p.E436K 1.000 164 0% 337 28.5% 50 24% benign(0) tolerated(0.47) neutral(0.011) HMMPfam_Peptidase_M17,superfamily_Zn-dependent exopeptidases LAP3 51056 genome.wustl.edu 37 4 17609065 17609065 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015907.2 +1 validated p.F471 0.999 128 0.8% 216 34.7% 75 38.6% - - - HMMPfam_Peptidase_M17,superfamily_Zn-dependent exopeptidases NCAPG 64151 genome.wustl.edu 37 4 17827032 17827032 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022346.3 +1 validated p.E501K 1.000 61 0% 62 27.4% 6 33.3% probably_damaging(0.981) deleterious(0.01) deleterious(0.831) superfamily_ARM-type_fold LCORL 254251 genome.wustl.edu 37 4 17963534 17963534 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153686.7 -1 reviewed p.R141Q 1.000 266 0.4% 138 34.1% 4 50% possibly_damaging(0.454) deleterious(0.04) deleterious(0.497) NULL SLIT2 9353 genome.wustl.edu 37 4 20525762 20525762 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004787.1 +1 provisional p.R467I 1.000 133 0% 123 34.1% 1 100% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_LRRCT,HMMSmart_SM00082,superfamily_L domain-like GPR125 166647 genome.wustl.edu 37 4 22394252 22394252 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145290.2 -1 validated p.R848Q 1.000 500 0% 556 33.3% 26 34.6% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_7tm_2 GPR125 166647 genome.wustl.edu 37 4 22438145 22438145 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145290.2 -1 validated p.R402I 0.932 267 0% 263 27.4% 12 41.6% possibly_damaging(0.935) tolerated(0.08) deleterious(0.680) superfamily_Hormone receptor domain (HRM Pfam 02793),superfamily_Immunoglobulin GPR125 166647 genome.wustl.edu 37 4 22449096 22449096 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145290.2 -1 validated p.G171V 1.000 71 0% 59 32.2% 9 22.2% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like GBA3 57733 genome.wustl.edu 37 4 22749413 22749413 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020973.3 +1 validated p.D261N 0.991 151 0% 160 30.6% 0 - possibly_damaging(0.835) tolerated(0.83) neutral(0.319) HMMPfam_Glyco_hydro_1,superfamily_(Trans)glycosidases CCDC149 91050 genome.wustl.edu 37 4 24839827 24839827 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001130726.1 -1 validated p.A147V 1.000 152 0% 163 28.2% 7 42.8% benign(0.167) tolerated(0.18) neutral(0.071) HMMPfam_DUF2353 ZCCHC4 29063 genome.wustl.edu 37 4 25315691 25315691 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024936.2 +1 validated p.V51L 0.993 117 0% 185 34.1% 6 66.6% benign(0.291) tolerated(0.28) neutral(0.121) HMMPfam_zf-GRF ANAPC4 29945 genome.wustl.edu 37 4 25390470 25390470 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013367.2 +1 reviewed p.S161P 1.000 164 0% 162 40.1% 3 66.6% possibly_damaging(0.924) tolerated(0.05) deleterious(0.718) NULL SEL1L3 23231 genome.wustl.edu 37 4 25806175 25806175 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015187.3 -1 validated p.R588 0.991 125 0% 165 36.4% 90 41.1% - - - HMMSmart_SM00671,superfamily_HCP-like RBPJ 3516 genome.wustl.edu 37 4 26407862 26407862 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005349.2 +1 validated p.V55A 1.000 214 0% 264 32.6% 13 30.7% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_p53-like transcription factors,HMMPfam_LAG1-DNAbind CCKAR 886 genome.wustl.edu 37 4 26484811 26484811 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000730.2 -1 reviewed p.K241Q 1.000 187 0% 258 36.4% 0 - benign(0.003) tolerated(0.29) neutral(0.029) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like PCDH7 5099 genome.wustl.edu 37 4 30725911 30725911 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032457.3 +1 reviewed p.A909D 1.000 136 0% 273 37% 29 51.7% possibly_damaging(0.897) tolerated(0.47) neutral(0.365) HMMPfam_Protocadherin PCDH7 5099 genome.wustl.edu 37 4 31144301 31144301 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032457.3 +1 reviewed p.R1145C 1.000 120 0% 97 28.9% 3 33.3% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL ARAP2 116984 genome.wustl.edu 37 4 36134862 36134862 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015230.2 -1 reviewed p.F1138C 1.000 236 0% 198 31.8% 1 0% possibly_damaging(0.926) deleterious(0) deleterious(0.819) HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP ARAP2 116984 genome.wustl.edu 37 4 36212317 36212317 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015230.2 -1 reviewed p.D394 1.000 214 0% 135 32.6% 0 - - - - NULL ARAP2 116984 genome.wustl.edu 37 4 36230520 36230520 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015230.2 -1 reviewed p.E197* 0.000 112 0% 107 34.6% 1 100% - - - NULL DTHD1 401124 genome.wustl.edu 37 4 36285827 36285827 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000456874 +1 known p.E162D 0.679 108 0% 151 35.8% 0 - benign(0.077) tolerated(0.69) neutral(0.007) NULL DTHD1 401124 genome.wustl.edu 37 4 36317926 36317926 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001136536.3 +1 validated p.L430M 0.997 134 0% 180 37.2% 1 0% probably_damaging(0.989) tolerated(0.13) deleterious(0.692) NULL KIAA1239 57495 genome.wustl.edu 37 4 37448088 37448088 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001144990.1 +1 validated p.I1493S 1.000 113 0% 140 36.4% 0 - benign(0.037) tolerated(0.09) neutral(0.298) superfamily_WD40_like TLR10 81793 genome.wustl.edu 37 4 38776255 38776255 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001017388.1 -1 reviewed p.I319 0.283 168 0% 211 26.1% 0 - - - - superfamily_SSF52058 TLR10 81793 genome.wustl.edu 37 4 38776478 38776478 + Missense_Mutation SNP G G A rs187892716 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001017388.1 -1 reviewed p.S245L 0.178 119 0% 143 42% 0 - probably_damaging(0.998) deleterious(0.05) deleterious(0.820) superfamily_SSF52058 TLR10 81793 genome.wustl.edu 37 4 38776964 38776964 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001017388.1 -1 reviewed p.R83K 0.093 139 0% 140 32.9% 0 - benign(0.059) tolerated(0.55) neutral(0.011) superfamily_SSF52058 TLR10 81793 genome.wustl.edu 37 4 38777079 38777079 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001017388.1 -1 reviewed p.D45Y 0.038 191 0% 167 37.7% 0 - probably_damaging(0.993) deleterious(0) deleterious(0.895) superfamily_SSF52058 TLR1 7096 genome.wustl.edu 37 4 38798100 38798100 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003263.3 -1 reviewed p.K785Q 0.004 129 0% 176 32.4% 1 0% benign(0.282) tolerated(0.24) neutral(0.124) superfamily_Toll/Interleukin receptor TIR domain TLR1 7096 genome.wustl.edu 37 4 38799487 38799487 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003263.3 -1 reviewed p.I322 0.793 103 0% 74 28.4% 1 0% - - - superfamily_L domain-like,superfamily_Outer arm dynein light chain 1 TLR1 7096 genome.wustl.edu 37 4 38800305 38800305 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003263.3 -1 reviewed p.L50V 0.094 133 0% 163 28.2% 0 - probably_damaging(0.959) deleterious(0) deleterious(0.847) superfamily_L domain-like TLR6 10333 genome.wustl.edu 37 4 38828723 38828723 + Missense_Mutation SNP T T A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006068.3 -1 validated p.N791I 0.059 149 0% 193 35.2% 1 0% probably_damaging(0.974) deleterious(0.01) deleterious(0.822) NULL TLR6 10333 genome.wustl.edu 37 4 38828760 38828760 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006068.3 -1 validated p.A779T 1.000 149 0% 210 35.7% 1 0% probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_TIR,HMMSmart_TIR,superfamily_TIR TLR6 10333 genome.wustl.edu 37 4 38828819 38828819 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006068.3 -1 validated p.T759N 1.000 200 0% 320 38.4% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_TIR,HMMSmart_TIR,superfamily_TIR TLR6 10333 genome.wustl.edu 37 4 38829330 38829330 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006068.3 -1 validated p.V589I 0.012 167 0% 264 34.8% 0 - benign(0.004) tolerated(0.19) neutral(0.050) NULL TLR6 10333 genome.wustl.edu 37 4 38829480 38829480 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006068.3 -1 validated p.E539* 0.555 353 0% 532 36.8% 0 - - - - HMMSmart_LRRCT,superfamily_SSF52058 FAM114A1 92689 genome.wustl.edu 37 4 38910327 38910327 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138389.2 +1 validated p.R258G 1.000 88 0% 152 33.6% 19 26.3% probably_damaging(0.998) tolerated(0.15) deleterious(0.716) HMMPfam_DUF719 TMEM156 80008 genome.wustl.edu 37 4 38988037 38988037 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024943.1 -1 provisional p.H248N 0.998 131 0% 185 32.4% 0 - possibly_damaging(0.829) deleterious(0) deleterious(0.759) NULL TMEM156 80008 genome.wustl.edu 37 4 38990533 38990533 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024943.1 -1 provisional p.F226C 0.017 197 0% 263 40.3% 0 - possibly_damaging(0.519) deleterious(0.02) deleterious(0.557) NULL WDR19 57728 genome.wustl.edu 37 4 39188187 39188187 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025132.3 +1 reviewed p.R43C 1.000 90 0% 82 22% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_WD40 repeat-like WDR19 57728 genome.wustl.edu 37 4 39219611 39219611 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000506503 +1 known p.A454V 1.000 213 0% 226 29.6% 7 28.5% benign(0.068) tolerated(0.06) neutral(0.327) NULL RFC1 5981 genome.wustl.edu 37 4 39322970 39322970 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002913.3 -1 reviewed p.E249* 0.990 319 0% 483 30% 5 0% - - - NULL RFC1 5981 genome.wustl.edu 37 4 39329319 39329319 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002913.3 -1 reviewed p.R130I 0.047 289 0% 429 32.4% 4 75% benign(0.009) tolerated(0.42) neutral(0.015) NULL LIAS 11019 genome.wustl.edu 37 4 39466781 39466781 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006859.2 +1 reviewed p.W170L 1.000 226 0% 463 27.4% 3 33.3% possibly_damaging(0.533) tolerated(0.31) neutral(0.207) HMMSmart_Elp3,HMMPfam_Radical_SAM,superfamily_SSF102114 UBE2K 3093 genome.wustl.edu 37 4 39779984 39779984 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005339.4 +1 reviewed p.A178V 1.000 276 0% 433 27.7% 125 42.4% possibly_damaging(0.775) tolerated(0.07) deleterious(0.607) HMMPfam_UBA,superfamily_UBA-like,HMMSmart_SM00165 PDS5A 23244 genome.wustl.edu 37 4 39899994 39899994 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001100400.1 -1 reviewed p.Y595* 0.001 96 0% 97 26.8% 11 45.4% - - - NULL NSUN7 79730 genome.wustl.edu 37 4 40752619 40752619 + Splice_Site SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024677.4 +1 validated e1-1 0.991 26 0% 41 31.7% 3 100% - - - - APBB2 323 genome.wustl.edu 37 4 40825734 40825734 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173075.4 -1 reviewed p.S597* 1.000 111 0% 168 25% 4 50% - - - HMMPfam_PID,HMMSmart_SM00462,superfamily_PH domain-like LIMCH1 22998 genome.wustl.edu 37 4 41621241 41621241 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014988.2 +1 validated p.R240Q 1.000 47 0% 58 27.6% 3 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL LIMCH1 22998 genome.wustl.edu 37 4 41621302 41621302 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000508466 +1 known p.R95Q 0.228 53 0% 69 24.6% 1 100% - - - NULL LIMCH1 22998 genome.wustl.edu 37 4 41652581 41652581 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014988.2 +1 validated p.E613K 0.986 144 0% 215 30.2% 3 0% benign(0.12) tolerated(0.14) neutral(0.259) NULL PHOX2B 8929 genome.wustl.edu 37 4 41748256 41748256 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000510424 -1 known p.P111H 0.058 52 0% 53 28.3% 0 - - - - NULL DCAF4L1 285429 genome.wustl.edu 37 4 41984589 41984589 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001029955.3 +1 validated p.K260N 0.978 177 0% 197 32.5% 0 - benign(0.051) tolerated(0.15) neutral(0.244) HMMSmart_SM00320,superfamily_WD40 repeat-like ATP8A1 10396 genome.wustl.edu 37 4 42545992 42545992 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006095.2 -1 reviewed p.R555I 1.000 140 0% 144 30.6% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Hydrolase,superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N KCTD8 386617 genome.wustl.edu 37 4 44449766 44449766 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198353.2 -1 validated p.D259N 1.000 34 0% 47 31.9% 0 - probably_damaging(1) tolerated(0.09) deleterious(0.796) NULL GUF1 60558 genome.wustl.edu 37 4 44696439 44696439 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021927.2 +1 validated p.E542K 1.000 191 0% 179 27.9% 12 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_EFG_C,superfamily_EFG_III_V GABRA2 2555 genome.wustl.edu 37 4 46252487 46252487 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000807.2 -1 reviewed p.K398N 1.000 322 0% 113 23.9% 0 - benign(0.045) tolerated(0.38) neutral(0.020) HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore GABRA4 2557 genome.wustl.edu 37 4 46930528 46930528 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000809.2 -1 reviewed p.R460Q 0.001 166 0% 86 73.3% 0 - benign(0) tolerated(0.32) neutral(0.024) HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM GABRA4 2557 genome.wustl.edu 37 4 46930675 46930675 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000809.2 -1 reviewed p.S411I 0.000 90 0% 47 29.8% 0 - benign(0) tolerated(0.14) neutral(0.249) HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM GABRB1 2560 genome.wustl.edu 37 4 47163449 47163449 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000812.3 +1 reviewed p.R142* 1.000 216 0% 120 30% 0 - - - - HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD GABRB1 2560 genome.wustl.edu 37 4 47322179 47322179 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000812.3 +1 reviewed p.R166Q 1.000 160 0% 249 32.9% 0 - possibly_damaging(0.916) deleterious(0.04) deleterious(0.716) HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL ATP10D 57205 genome.wustl.edu 37 4 47593132 47593132 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020453.3 +1 validated p.T1339A 0.003 102 0% 81 37% 8 37.5% benign(0.001) tolerated(0.2) neutral(0.049) NULL NFXL1 152518 genome.wustl.edu 37 4 47857086 47857086 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152995.4 -1 validated p.R804I 1.000 118 0% 72 37.5% 9 33.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL NFXL1 152518 genome.wustl.edu 37 4 47912883 47912883 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152995.4 -1 validated p.K122Q 0.910 281 0% 422 31.5% 2 50% benign(0.054) tolerated(0.5) neutral(0.013) NULL CNGA1 1259 genome.wustl.edu 37 4 47938735 47938735 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142564.1 -1 reviewed p.K661N 0.971 98 0% 110 26.4% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_SM00100,superfamily_cAMP-binding domain-like CNGA1 1259 genome.wustl.edu 37 4 47938832 47938832 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142564.1 -1 reviewed p.R629Q 1.000 95 0% 120 28.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_cNMP_binding,HMMSmart_SM00100,PatternScan_CNMP_BINDING_2,superfamily_cAMP-binding domain-like NIPAL1 152519 genome.wustl.edu 37 4 48037778 48037778 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_207330.1 +1 provisional p.P274 0.002 208 0.5% 323 34.7% 1 100% - - - HMMPfam_DUF803 TEC 7006 genome.wustl.edu 37 4 48230575 48230575 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003215.2 -1 reviewed p.K19N 1.000 310 0% 417 31.7% 0 - probably_damaging(0.971) tolerated(0.06) deleterious(0.736) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like ZAR1 326340 genome.wustl.edu 37 4 48494979 48494979 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_175619.1 +1 provisional p.T361P 1.000 272 0% 437 27.5% 0 - probably_damaging(0.996) tolerated(0.05) deleterious(0.807) NULL FRYL 285527 genome.wustl.edu 37 4 48548277 48548277 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015030.1 -1 validated p.D1696Y 1.000 115 0% 115 34.8% 2 0% benign(0.372) deleterious(0.01) deleterious(0.524) NULL FRYL 285527 genome.wustl.edu 37 4 48622744 48622744 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015030.1 -1 validated p.R76C 1.000 226 0% 312 33.7% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL FRYL 285527 genome.wustl.edu 37 4 48636487 48636487 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000505759 -1 known p.V73I 1.000 176 0% 150 39.3% 1 100% possibly_damaging(0.484) deleterious(0) deleterious(0.605) NULL CWH43 80157 genome.wustl.edu 37 4 49032922 49032922 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025087.2 +1 validated p.E485K 1.000 212 0% 239 32.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL LRRC66 339977 genome.wustl.edu 37 4 52883746 52883746 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001024611.1 -1 provisional p.V12F 0.000 33 0% 34 23.5% 0 - possibly_damaging(0.898) deleterious(0) deleterious(0.799) NULL SGCB 6443 genome.wustl.edu 37 4 52890195 52890195 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000232.4 -1 reviewed p.L295 1.000 122 0% 158 32.9% 22 31.8% - - - HMMPfam_Sarcoglycan_1 SGCB 6443 genome.wustl.edu 37 4 52899799 52899799 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000232.4 -1 reviewed p.S14F 1.000 258 0% 388 35.8% 9 22.2% probably_damaging(0.965) deleterious(0) deleterious(0.851) NULL LOC100288413 100288413 genome.wustl.edu 37 4 53610235 53610235 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002342451.1 -1 model p.D485Y 0.000 157 0% 299 29.8% 4 75% - - - NULL LOC100288413 100288413 genome.wustl.edu 37 4 53610452 53610452 + Missense_Mutation SNP T T A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002342451.1 -1 model p.K412N 0.000 310 0% 476 38.7% 11 54.5% - - - NULL FIP1L1 81608 genome.wustl.edu 37 4 54257184 54257184 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030917.3 +1 reviewed p.L172I 1.000 135 0% 147 25.2% 20 25% probably_damaging(0.957) tolerated(0.35) neutral(0.421) HMMPfam_Fip1 FIP1L1 81608 genome.wustl.edu 37 4 54310250 54310250 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030917.3 +1 reviewed p.R422H 1.000 312 0% 318 25.5% 56 50% probably_damaging(1) tolerated(0.1) deleterious(0.786) NULL CHIC2 26511 genome.wustl.edu 37 4 54930447 54930447 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000510894 -1 known p.L7I 1.000 42 0% 53 32.1% 7 57.1% - - - NULL PDGFRA 5156 genome.wustl.edu 37 4 55130019 55130019 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006206.4 +1 reviewed p.G185W 0.995 105 0% 143 30.1% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00409,superfamily_Immunoglobulin PDGFRA 5156 genome.wustl.edu 37 4 55131211 55131211 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006206.4 +1 reviewed p.E252* 0.779 147 0% 198 31.8% 7 0% - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin PDGFRA 5156 genome.wustl.edu 37 4 55133597 55133597 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006206.4 +1 reviewed p.E301* 0.419 107 0% 112 40.2% 3 0% - - - HMMSmart_SM00409,superfamily_Immunoglobulin KIT 3815 genome.wustl.edu 37 4 55561914 55561914 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000222.2 +1 reviewed p.G102S 0.669 107 0% 110 26.4% 0 - benign(0) tolerated(0.29) neutral(0.029) superfamily_SSF48726 KIT 3815 genome.wustl.edu 37 4 55593627 55593627 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000222.2 +1 reviewed p.G565* 1.000 171 0% 152 34.2% 0 - - - - NULL KIT 3815 genome.wustl.edu 37 4 55599336 55599336 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000222.2 +1 reviewed p.S821Y 1.000 176 0% 110 29.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like KDR 3791 genome.wustl.edu 37 4 55948705 55948705 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002253.2 -1 reviewed p.D1254N 1.000 363 0.3% 310 30.6% 12 0% possibly_damaging(0.84) tolerated(0.33) neutral(0.346) NULL KDR 3791 genome.wustl.edu 37 4 55968176 55968176 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002253.2 -1 reviewed p.G718 0.959 162 0% 120 30.8% 2 0% - - - HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 KDR 3791 genome.wustl.edu 37 4 55976853 55976853 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002253.2 -1 reviewed p.K353N 1.000 86 0% 78 37.2% 1 0% possibly_damaging(0.947) tolerated(0.1) deleterious(0.677) HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 KDR 3791 genome.wustl.edu 37 4 55981208 55981208 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002253.2 -1 reviewed p.R164I 1.000 131 0% 113 33.6% 2 0% possibly_damaging(0.91) deleterious(0.02) deleterious(0.746) superfamily_SSF48726 SRD5A3 79644 genome.wustl.edu 37 4 56236191 56236191 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024592.3 +1 validated p.Q297P 0.988 222 0% 339 32.2% 30 36.6% possibly_damaging(0.903) tolerated(0.1) deleterious(0.644) HMMPfam_Steroid_dh EXOC1 55763 genome.wustl.edu 37 4 56759755 56759755 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001024924.1 +1 reviewed p.R588C 1.000 146 0% 233 33.5% 17 23.5% possibly_damaging(0.847) tolerated(0.06) deleterious(0.647) HMMPfam_Sec3 CEP135 9662 genome.wustl.edu 37 4 56846349 56846349 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025009.3 +1 validated p.R505I 1.000 141 0% 144 23.6% 1 100% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL CEP135 9662 genome.wustl.edu 37 4 56865778 56865778 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025009.3 +1 validated p.K749N 1.000 68 0% 131 26% 1 0% benign(0.045) tolerated(0.45) neutral(0.015) NULL CEP135 9662 genome.wustl.edu 37 4 56878134 56878134 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025009.3 +1 validated p.E929* 1.000 44 0% 79 26.6% 1 0% - - - superfamily_Prefoldin CEP135 9662 genome.wustl.edu 37 4 56883913 56883913 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025009.3 +1 validated p.A968T 0.927 67 0% 101 35.6% 4 75% benign(0.002) tolerated(0.79) neutral(0.001) NULL CEP135 9662 genome.wustl.edu 37 4 56884001 56884001 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025009.3 +1 validated p.S997L 0.983 67 0% 80 32.5% 3 66.6% possibly_damaging(0.659) tolerated(0.31) neutral(0.260) NULL KIAA1211 57482 genome.wustl.edu 37 4 57181658 57181658 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020722.1 +1 validated p.A664T 0.202 19 0% 12 41.7% 3 33.3% probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL AASDH 132949 genome.wustl.edu 37 4 57244367 57244367 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_181806.2 -1 validated p.P205 0.898 165 0% 300 30.3% 3 33.3% - - - HMMPfam_AMP-binding,PatternScan_AMP_BINDING,superfamily_Acetyl-CoA synthetase-like PAICS 10606 genome.wustl.edu 37 4 57325690 57325690 + Nonsense_Mutation SNP G G T rs144785850 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001079525.1 +1 reviewed p.E429* 1.000 66 0% 123 31.7% 123 47.1% - - - superfamily_N5-CAIR mutase (phosphoribosylaminoimidazole carboxylase PurE) SRP72 6731 genome.wustl.edu 37 4 57368027 57368027 + Nonstop_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006947.3 +1 validated p.*672W 0.981 165 0% 379 33.5% 33 42.4% - - - NULL REST 5978 genome.wustl.edu 37 4 57798145 57798145 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005612.3 +1 reviewed p.E1041* 0.026 71 0% 198 30.8% 12 41.6% - - - NULL POLR2B 5431 genome.wustl.edu 37 4 57857059 57857059 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000938.1 +1 reviewed p.E80* 1.000 104 0% 198 37.9% 10 0% - - - HMMPfam_RNA_pol_Rpb2_1,superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase POLR2B 5431 genome.wustl.edu 37 4 57865843 57865843 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000938.1 +1 reviewed p.E266* 1.000 156 0% 313 35.5% 15 6.6% - - - HMMPfam_RNA_pol_Rpb2_2,HMMPfam_RNA_pol_Rpb2_1,superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase IGFBP7 3490 genome.wustl.edu 37 4 57898608 57898608 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001553.1 -1 provisional p.E271D 1.000 298 0% 390 29.7% 1211 0.2% benign(0.022) tolerated(0.46) neutral(0.013) NULL LPHN3 23284 genome.wustl.edu 37 4 62897279 62897279 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015236.4 +1 reviewed p.S1113Y 1.000 252 0% 131 27.5% 0 - possibly_damaging(0.904) deleterious(0) deleterious(0.803) HMMPfam_7tm_2,superfamily_Family A G protein-coupled receptor-like LOC644578 644578 genome.wustl.edu 37 4 64215801 64215801 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_927694.2 +1 model p.K150N 0.863 62 0% 92 72.8% 0 - - - - NULL LOC644578 644578 genome.wustl.edu 37 4 64216517 64216517 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_927694.2 +1 model p.E284* 1.000 56 0% 94 63.8% 0 - - - - "HMMSmart_SM00715,superfamily_""Winged helix"" DNA-binding domain" TECRL 253017 genome.wustl.edu 37 4 65145856 65145856 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001010874.4 -1 validated p.K342N 0.040 167 0% 84 29.8% 0 - probably_damaging(0.954) deleterious(0.03) deleterious(0.762) HMMPfam_Steroid_dh EPHA5 2044 genome.wustl.edu 37 4 66217109 66217109 + Silent SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004439.5 -1 reviewed p.R836 0.954 140 0% 92 29.3% 0 - - - - HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) CENPC1 1060 genome.wustl.edu 37 4 68380203 68380203 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001812.2 -1 reviewed p.K345E 0.648 235 0% 252 33.7% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL STAP1 26228 genome.wustl.edu 37 4 68436846 68436846 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012108.2 +1 reviewed p.F55L 1.000 180 0% 159 32.1% 1 0% possibly_damaging(0.78) deleterious(0.03) deleterious(0.656) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like UBA6 55236 genome.wustl.edu 37 4 68504796 68504796 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018227.5 -1 validated p.S534Y 1.000 302 0% 423 30% 6 33.3% benign(0.142) deleterious(0) neutral(0.457) HMMPfam_ThiF,superfamily_Activating enzymes of the ubiquitin-like proteins UBA6 55236 genome.wustl.edu 37 4 68514830 68514830 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018227.5 -1 validated p.V402L 1.000 156 0% 190 30% 2 50% probably_damaging(0.961) deleterious(0) deleterious(0.849) superfamily_Activating enzymes of the ubiquitin-like proteins TMPRSS11A 339967 genome.wustl.edu 37 4 68777060 68777060 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182606.3 -1 validated p.*422 0.860 392 0% 314 29.6% 0 - - - - NULL TMPRSS11A 339967 genome.wustl.edu 37 4 68784871 68784871 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182606.3 -1 validated p.F261V 0.975 345 0% 377 31.8% 0 - benign(0.002) tolerated(0.14) neutral(0.249) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases TMPRSS11F 389208 genome.wustl.edu 37 4 68964623 68964623 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_207407.2 -1 validated p.T49P 1.000 144 0% 143 28.7% 0 - possibly_damaging(0.911) deleterious(0.02) deleterious(0.746) superfamily_SSF82671 TMPRSS11B 132724 genome.wustl.edu 37 4 69096937 69096937 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182502.3 -1 validated p.A224T 1.000 146 0% 161 32.3% 0 - possibly_damaging(0.951) deleterious(0) deleterious(0.839) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases,PatternScan_TRYPSIN_HIS TMPRSS11E 28983 genome.wustl.edu 37 4 69327565 69327565 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014058.3 +1 validated p.R13I 0.525 269 0% 385 36.1% 0 - possibly_damaging(0.926) deleterious(0.01) deleterious(0.780) NULL UGT2B15 7366 genome.wustl.edu 37 4 69519925 69519925 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001076.2 -1 validated p.I381 0.964 243 0% 242 31.4% 0 - - - - HMMPfam_UDPGT,PatternScan_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT2B10 7365 genome.wustl.edu 37 4 69681921 69681921 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001075.4 +1 validated p.L62I 0.001 151 0% 98 27.6% 0 - benign(0.004) tolerated(0.3) neutral(0.029) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT2B10 7365 genome.wustl.edu 37 4 69696349 69696349 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001075.4 +1 validated p.I447L 0.592 219 0% 161 39.8% 5 0% possibly_damaging(0.774) tolerated(0.63) neutral(0.292) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT2B11 10720 genome.wustl.edu 37 4 69885488 69885488 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000381096 -1 known p.M205I 1.000 246 0% 195 27.7% 0 - - - - HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT2B28 54490 genome.wustl.edu 37 4 70146852 70146852 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_053039.1 +1 provisional p.K212Q 0.242 206 0% 112 32.1% 0 - benign(0.366) tolerated(0.15) neutral(0.357) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT2B28 54490 genome.wustl.edu 37 4 70284702 70284702 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000381079 +1 known p.A377T 0.031 179 0% 97 41.2% 0 - - - - HMMPfam_UDPGT,PatternScan_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase SULT1E1 6783 genome.wustl.edu 37 4 70721029 70721029 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005420.2 -1 reviewed p.N87 0.000 358 0% 409 28.1% 0 - - - - HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases STATH 6779 genome.wustl.edu 37 4 70864160 70864160 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003154.2 +1 validated p.K2N 0.710 386 0% 292 32.9% 0 - unknown(0) - - NULL FDCSP 260436 genome.wustl.edu 37 4 71099746 71099746 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152997.2 +1 validated p.S34R 0.005 315 0% 84 26.2% 0 - possibly_damaging(0.681) - - NULL CSN3 1448 genome.wustl.edu 37 4 71114774 71114774 + Nonsense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005212.2 +1 validated p.Y49* 0.000 140 0% 163 36.2% 0 - - - - HMMPfam_Casein_kappa SMR3A 26952 genome.wustl.edu 37 4 71232674 71232674 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012390.3 +1 validated p.S123Y 0.002 303 0% 281 38.4% 0 - unknown(0) tolerated(0.1) - NULL PROL1 58503 genome.wustl.edu 37 4 71265037 71265037 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021225.4 +1 reviewed p.L12P 0.070 256 0.4% 97 21.6% 0 - probably_damaging(0.99) - - NULL PROL1 58503 genome.wustl.edu 37 4 71275440 71275440 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021225.4 +1 reviewed p.A132V 0.003 537 0% 851 31% 0 - possibly_damaging(0.93) - - NULL AMBN 258 genome.wustl.edu 37 4 71469002 71469002 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016519.4 +1 reviewed p.S225Y 0.980 301 0% 237 30% 5 100% probably_damaging(0.982) deleterious(0.01) deleterious(0.832) HMMPfam_Amelin,HMMSmart_SM00817 ENAM 10117 genome.wustl.edu 37 4 71508553 71508553 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031889.2 +1 reviewed p.N470K 0.986 69 0% 60 33.3% 0 - possibly_damaging(0.916) tolerated(0.16) neutral(0.426) NULL ENAM 10117 genome.wustl.edu 37 4 71508664 71508664 + Silent SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031889.2 +1 reviewed p.S507 0.822 61 0% 63 28.6% 0 - - - - NULL ENAM 10117 genome.wustl.edu 37 4 71508902 71508902 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031889.2 +1 reviewed p.L587V 0.053 96 0% 154 35.1% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL RUFY3 22902 genome.wustl.edu 37 4 71648895 71648895 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001037442.2 +1 validated p.R328W 1.000 144 0% 191 34.6% 7 28.5% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL GRSF1 2926 genome.wustl.edu 37 4 71693586 71693586 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002092.3 -1 reviewed p.E373A 1.000 162 0% 313 35.1% 133 45.1% possibly_damaging(0.812) tolerated(0.33) neutral(0.330) superfamily_RNA-binding domain RBD SLC4A4 8671 genome.wustl.edu 37 4 72222727 72222727 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001134742.1 +1 reviewed p.M185L 1.000 156 0% 153 29.4% 0 - benign(0) tolerated(1) - HMMPfam_Band_3_cyto,superfamily_PTrfase/Anion_transptr SLC4A4 8671 genome.wustl.edu 37 4 72222762 72222762 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001134742.1 +1 reviewed p.L196F 1.000 168 0% 195 36.4% 0 - possibly_damaging(0.946) deleterious(0) deleterious(0.835) HMMPfam_Band_3_cyto,superfamily_PTrfase/Anion_transptr GC 2638 genome.wustl.edu 37 4 72620150 72620150 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000583.2 -1 reviewed p.T414A 1.000 267 0% 155 25.2% 0 - benign(0.251) tolerated(0.46) neutral(0.037) superfamily_Serum albumin-like,HMMPfam_VitD-bind_III GC 2638 genome.wustl.edu 37 4 72649738 72649738 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000504199 -1 known p.K19E 0.000 173 0% 72 45.8% 0 - probably_damaging(0.974) deleterious(0) deleterious(0.861) NULL ADAMTS3 9508 genome.wustl.edu 37 4 73179448 73179448 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014243.1 -1 reviewed p.S564Y 1.000 179 0% 145 31% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat ADAMTS3 9508 genome.wustl.edu 37 4 73280609 73280609 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014243.1 -1 reviewed p.G195V 1.000 407 0% 342 24.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pep_M12B_propep ADAMTS3 9508 genome.wustl.edu 37 4 73280661 73280661 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014243.1 -1 reviewed p.E178* 1.000 329 0.3% 274 27.7% 1 0% - - - HMMPfam_Pep_M12B_propep ANKRD17 26057 genome.wustl.edu 37 4 73957963 73957963 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032217.3 -1 reviewed p.K1794N 1.000 95 0% 133 33.1% 13 15.3% probably_damaging(0.976) tolerated(0.12) deleterious(0.678) HMMSmart_SM00322,superfamily_Eukaryotic type KH-domain (KH-domain type I) ANKRD17 26057 genome.wustl.edu 37 4 73984549 73984549 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032217.3 -1 reviewed p.V1348 0.924 178 0% 176 31.2% 4 25% - - - HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat ANKRD17 26057 genome.wustl.edu 37 4 74005854 74005854 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032217.3 -1 reviewed p.E827* 1.000 272 0% 381 34.9% 2 100% - - - superfamily_Ankyrin repeat AFP 174 genome.wustl.edu 37 4 74306416 74306416 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001134.1 +1 reviewed p.N123T 0.001 197 0% 228 32.9% 0 - benign(0.003) deleterious(0.02) neutral(0.383) superfamily_Serum_albumin,HMMPfam_Serum_albumin,HMMSmart_ALBUMIN AFM 173 genome.wustl.edu 37 4 74361074 74361074 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001133.2 +1 reviewed p.R372 0.942 111 0% 95 35.8% 0 - - - - superfamily_Serum albumin-like,HMMPfam_Serum_albumin,HMMSmart_SM00103 RASSF6 166824 genome.wustl.edu 37 4 74442344 74442344 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_201431.1 -1 validated p.E308* 1.000 257 0% 278 31.7% 3 33.3% - - - NULL RASSF6 166824 genome.wustl.edu 37 4 74447576 74447576 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_201431.1 -1 validated p.S259R 0.973 226 0% 187 34.8% 3 33.3% probably_damaging(0.991) deleterious(0.03) deleterious(0.808) HMMPfam_RA,HMMSmart_SM00314 PPBP 5473 genome.wustl.edu 37 4 74853241 74853241 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002704.3 -1 reviewed p.E93K 0.481 210 0% 174 35.6% 0 - possibly_damaging(0.625) deleterious(0) deleterious(0.662) HMMPfam_IL8,HMMSmart_SM00199,superfamily_Interleukin 8-like chemokines,PatternScan_SMALL_CYTOKINES_CXC PARM1 25849 genome.wustl.edu 37 4 75937828 75937828 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015393.2 +1 validated p.K79N 0.004 243 0% 358 32.7% 3 33.3% possibly_damaging(0.919) tolerated(0.18) neutral(0.425) NULL RCHY1 25898 genome.wustl.edu 37 4 76434127 76434127 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015436.2 -1 reviewed p.E77* 0.999 131 0% 159 32.7% 7 42.8% - - - HMMPfam_zf-CHY THAP6 152815 genome.wustl.edu 37 4 76440715 76440715 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144721.4 +1 validated p.S18L 1.000 222 0% 308 34.4% 7 42.8% possibly_damaging(0.915) tolerated(0.11) deleterious(0.638) HMMPfam_THAP CDKL2 8999 genome.wustl.edu 37 4 76522369 76522369 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003948.3 -1 reviewed p.G358C 0.036 189 0% 197 33.5% 0 - benign(0.07) tolerated(0.08) neutral(0.305) NULL PPEF2 5470 genome.wustl.edu 37 4 76804083 76804083 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006239.2 -1 reviewed p.S310N 1.000 161 0% 282 31.6% 0 - benign(0) tolerated(1) - HMMPfam_Metallophos,HMMSmart_SM00156,superfamily_Metallo-dependent phosphatases NAAA 27163 genome.wustl.edu 37 4 76842253 76842253 + Silent SNP G G A rs192956878 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000513045 -1 known p.R35* 0.994 68 0% 113 31.9% 13 23% - - - NULL ART3 419 genome.wustl.edu 37 4 77003569 77003569 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001130016.1 +1 validated p.R221I 0.001 113 0% 161 38.5% 0 - possibly_damaging(0.792) tolerated(0.06) deleterious(0.619) HMMPfam_ART,superfamily_ADP-ribosylation SCARB2 950 genome.wustl.edu 37 4 77097062 77097062 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005506.2 -1 reviewed p.S236P 1.000 150 0% 246 29.3% 47 34% possibly_damaging(0.524) tolerated(0.17) neutral(0.235) HMMPfam_CD36 SCARB2 950 genome.wustl.edu 37 4 77100759 77100759 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005506.2 -1 reviewed p.E175K 0.977 117 0% 174 33.9% 51 33.3% probably_damaging(0.971) tolerated(0.15) deleterious(0.654) HMMPfam_CD36 SCARB2 950 genome.wustl.edu 37 4 77102246 77102246 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005506.2 -1 reviewed p.R95I 0.999 250 0% 341 34% 33 42.4% probably_damaging(0.997) tolerated(0.75) neutral(0.468) HMMPfam_CD36 FAM47E 100129583 genome.wustl.edu 37 4 77177607 77177607 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001136570.1 +1 validated p.D117 0.000 52 0% 65 27.7% 0 - - - - NULL FAM47E 100129583 genome.wustl.edu 37 4 77192742 77192742 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001136570.1 +1 validated p.E231* 0.890 98 0% 137 43.1% 0 - - - - NULL CCDC158 339965 genome.wustl.edu 37 4 77278635 77278635 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001042784.1 -1 validated p.E689* 1.000 377 0% 369 22.8% 0 - - - - NULL CCDC158 339965 genome.wustl.edu 37 4 77283469 77283469 + Splice_Site SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001042784.1 -1 validated e11-1 1.000 159 0% 145 22.1% 0 - - - - - CCDC158 339965 genome.wustl.edu 37 4 77305418 77305418 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001042784.1 -1 validated p.E183D 1.000 157 0% 195 30.8% 0 - possibly_damaging(0.948) tolerated(0.49) neutral(0.402) NULL SHROOM3 57619 genome.wustl.edu 37 4 77660727 77660727 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020859.3 +1 validated p.I467 1.000 85 0% 131 31.3% 2 50% - - - NULL SHROOM3 57619 genome.wustl.edu 37 4 77675899 77675899 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020859.3 +1 validated p.S1421 0.000 55 0% 60 35% 5 20% - - - NULL SHROOM3 57619 genome.wustl.edu 37 4 77680845 77680845 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020859.3 +1 validated p.K1782N 1.000 112 0% 180 33.3% 13 46.1% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_ASD2 MRPL1 65008 genome.wustl.edu 37 4 78873669 78873669 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020236.3 +1 reviewed p.R296C 1.000 418 0% 518 31.1% 32 37.5% probably_damaging(1) tolerated(0.25) deleterious(0.537) HMMPfam_Ribosomal_L1,superfamily_Ribosomal protein L1 FRAS1 80144 genome.wustl.edu 37 4 79359839 79359839 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025074.6 +1 reviewed p.F1777S 1.000 181 0% 167 31.1% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL FRAS1 80144 genome.wustl.edu 37 4 79410220 79410220 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025074.6 +1 reviewed p.L2981I 0.998 142 0% 143 35.7% 13 46.1% benign(0.389) tolerated(0.31) neutral(0.151) HMMSmart_SM00237 BMP2K 55589 genome.wustl.edu 37 4 79782542 79782542 + Splice_Site SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198892.1 +1 reviewed e9-1 1.000 236 0.8% 92 26.1% 0 - - - - - PAQR3 152559 genome.wustl.edu 37 4 79856297 79856297 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001040202.1 -1 validated p.S109Y 1.000 145 0% 175 25.1% 3 66.6% possibly_damaging(0.455) tolerated(0.05) deleterious(0.494) HMMPfam_HlyIII GK2 2712 genome.wustl.edu 37 4 80327869 80327869 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033214.2 -1 validated p.S496R 1.000 213 0% 279 35.1% 0 - benign(0.001) tolerated(1) - HMMPfam_FGGY_C,superfamily_SSF53067 GK2 2712 genome.wustl.edu 37 4 80328185 80328185 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033214.2 -1 validated p.C390 0.722 270 0% 374 39.6% 0 - - - - PatternScan_FGGY_KINASES_2,HMMPfam_FGGY_C,superfamily_SSF53067 ANTXR2 118429 genome.wustl.edu 37 4 80898737 80898737 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145794.1 -1 reviewed p.A489D 0.000 205 0% 248 36.7% 3 33.3% possibly_damaging(0.683) deleterious(0) deleterious(0.688) NULL ANTXR2 118429 genome.wustl.edu 37 4 80952821 80952821 + Silent SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145794.1 -1 reviewed p.L274 0.000 125 0% 89 23.6% 25 28% - - - HMMPfam_Anth_Ig FGF5 2250 genome.wustl.edu 37 4 81207782 81207782 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004464.3 +1 reviewed p.N255H 0.161 30 0% 34 29.4% 0 - benign(0.313) deleterious(0.01) deleterious(0.503) NULL BMP3 651 genome.wustl.edu 37 4 81967791 81967791 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001201.2 +1 reviewed p.P406S 1.000 60 0% 56 30.4% 2 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_TGF_beta,HMMSmart_TGFB,superfamily_SSF57501 SEC31A 22872 genome.wustl.edu 37 4 83774758 83774758 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001077207.1 -1 reviewed p.K707Q 1.000 131 0% 216 30.1% 106 43.3% benign(0.218) tolerated(0.1) neutral(0.308) NULL SEC31A 22872 genome.wustl.edu 37 4 83791560 83791560 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001077207.1 -1 reviewed p.A267D 1.000 99 0% 173 37.6% 44 50% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 THAP9 79725 genome.wustl.edu 37 4 83821965 83821965 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024672.4 +1 validated p.S4R 1.000 14 0% 19 31.6% 0 - probably_damaging(0.963) tolerated(0.35) neutral(0.426) HMMPfam_THAP LIN54 132660 genome.wustl.edu 37 4 83857201 83857201 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_194282.2 -1 validated p.R593Q 1.000 299 0.3% 429 32.6% 5 20% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL COPS4 51138 genome.wustl.edu 37 4 83987668 83987668 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016129.2 +1 reviewed p.E322K 1.000 84 0% 98 21.4% 52 42.3% benign(0.268) tolerated(0.08) neutral(0.329) "HMMPfam_PCI,HMMSmart_SM00088,superfamily_""Winged helix"" DNA-binding domain" PLAC8 51316 genome.wustl.edu 37 4 84015920 84015920 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001130715.1 -1 validated p.A90T 0.028 145 0% 201 34.3% 2 0% benign(0) tolerated(0.35) neutral(0.021) HMMPfam_PLAC8 PLAC8 51316 genome.wustl.edu 37 4 84026109 84026109 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001130715.1 -1 validated p.C61 1.000 102 0% 180 30.6% 1 0% - - - HMMPfam_PLAC8 HELQ 113510 genome.wustl.edu 37 4 84342795 84342795 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_133636.2 -1 validated p.F957C 1.000 220 0% 416 33.9% 6 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL HELQ 113510 genome.wustl.edu 37 4 84367194 84367194 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_133636.2 -1 validated p.T480A 1.000 160 0% 247 26.3% 0 - benign(0.341) tolerated(0.82) neutral(0.108) HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases AGPAT9 84803 genome.wustl.edu 37 4 84465702 84465702 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032717.3 +1 validated p.R52Q 0.995 319 0% 448 28.8% 0 - benign(0.131) tolerated(0.19) neutral(0.060) NULL CDS1 1040 genome.wustl.edu 37 4 85569718 85569718 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001263.3 +1 reviewed p.N422T 1.000 134 0% 149 33.6% 4 0% benign(0.108) tolerated(0.11) neutral(0.280) NULL WDFY3 23001 genome.wustl.edu 37 4 85645642 85645642 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014991.4 -1 reviewed p.S2460A 0.925 179 0% 188 32.4% 3 66.6% benign(0.004) tolerated(0.49) neutral(0.011) NULL WDFY3 23001 genome.wustl.edu 37 4 85664916 85664916 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014991.4 -1 reviewed p.E2004* 1.000 164 0% 195 31.8% 4 50% - - - NULL WDFY3 23001 genome.wustl.edu 37 4 85676502 85676502 + Missense_Mutation SNP C C T rs191431603 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014991.4 -1 reviewed p.G1826R 1.000 101 0% 81 25.9% 0 - benign(0.335) deleterious(0.04) neutral(0.454) NULL WDFY3 23001 genome.wustl.edu 37 4 85694034 85694034 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014991.4 -1 reviewed p.E1601 1.000 151 0% 205 29.8% 3 33.3% - - - NULL WDFY3 23001 genome.wustl.edu 37 4 85711000 85711000 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014991.4 -1 reviewed p.R1183Q 1.000 177 0% 250 38.8% 2 100% possibly_damaging(0.807) tolerated(0.34) neutral(0.327) superfamily_Concanavalin A-like lectins/glucanases ARHGAP24 83478 genome.wustl.edu 37 4 86863264 86863264 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001025616.2 +1 validated p.R146I 1.000 264 0% 220 29.1% 0 - possibly_damaging(0.768) tolerated(0.06) deleterious(0.607) superfamily_GTPase activation domain GAP MAPK10 5602 genome.wustl.edu 37 4 86950428 86950428 + Splice_Site SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138982.2 -1 reviewed e11-1 1.000 349 0% 327 16.5% 0 - - - - - MAPK10 5602 genome.wustl.edu 37 4 86989047 86989047 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000515400 -1 known p.E201* 1.000 275 0% 423 32.9% 5 20% benign(0) tolerated(0.47) neutral(0.011) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase MAPK10 5602 genome.wustl.edu 37 4 87024349 87024349 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138982.2 -1 reviewed p.F139L 1.000 362 0% 306 35.6% 5 40% possibly_damaging(0.742) tolerated(0.12) deleterious(0.532) HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_MAPK,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase PTPN13 5783 genome.wustl.edu 37 4 87735648 87735648 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_080685.2 +1 reviewed p.L2473M 0.997 182 0% 306 31.7% 39 33.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_PTPc,superfamily_SSF52799 AFF1 4299 genome.wustl.edu 37 4 88052948 88052948 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005935.2 +1 validated p.F1028L 0.996 321 0% 355 27.9% 8 62.5% unknown(0) deleterious(0.01) - HMMPfam_AF-4 KLHL8 57563 genome.wustl.edu 37 4 88091294 88091294 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020803.3 -1 validated p.E492* 1.000 113 0% 150 34% 6 0% - - - HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain HSD17B11 51170 genome.wustl.edu 37 4 88303435 88303435 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016245.3 -1 validated p.R97Q 1.000 203 0% 229 34.9% 69 34.7% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_adh_short,superfamily_NAD(P)-binding Rossmann-fold domains SPARCL1 8404 genome.wustl.edu 37 4 88400690 88400690 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001128310.1 -1 validated p.L620M 0.998 118 0% 152 40.8% 304 0.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_SPARC_Ca_bdg,superfamily_EF-hand SPARCL1 8404 genome.wustl.edu 37 4 88415107 88415107 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001128310.1 -1 validated p.S282L 0.056 380 0% 608 30.9% 170 0% probably_damaging(0.96) deleterious(0) deleterious(0.848) NULL DSPP 1834 genome.wustl.edu 37 4 88532063 88532063 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014208.3 +1 reviewed p.M1I 1.000 165 0% 150 26% 0 - possibly_damaging(0.444) - - NULL DSPP 1834 genome.wustl.edu 37 4 88534324 88534324 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014208.3 +1 reviewed p.S329Y 0.000 60 0% 78 25.6% 0 - probably_damaging(0.991) - - NULL DMP1 1758 genome.wustl.edu 37 4 88583382 88583382 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004407.3 +1 reviewed p.A151V 0.000 88 0% 135 40% 0 - possibly_damaging(0.636) deleterious(0.01) deleterious(0.628) HMMPfam_DMP1 DMP1 1758 genome.wustl.edu 37 4 88583903 88583903 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004407.3 +1 reviewed p.L325M 0.000 105 0% 224 34.4% 0 - benign(0.001) deleterious(0) neutral(0.445) HMMPfam_DMP1 PKD2 5311 genome.wustl.edu 37 4 88986935 88986935 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000297.2 +1 reviewed p.E754D 1.000 210 0% 406 25.4% 9 44.4% probably_damaging(0.994) tolerated(0.29) deleterious(0.481) superfamily_SSF47473 PKD2 5311 genome.wustl.edu 37 4 88989075 88989075 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000297.2 +1 reviewed p.S795Y 1.000 188 0% 273 31.1% 9 33.3% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ABCG2 9429 genome.wustl.edu 37 4 89036170 89036170 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004827.2 -1 reviewed p.F294L 1.000 180 0% 258 26% 1 0% possibly_damaging(0.924) tolerated(0.1) deleterious(0.659) NULL ABCG2 9429 genome.wustl.edu 37 4 89052332 89052332 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004827.2 -1 reviewed p.E138* 1.000 268 0% 388 29.4% 0 - - - - HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCG2 9429 genome.wustl.edu 37 4 89060953 89060953 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004827.2 -1 reviewed p.S65 0.000 158 0% 171 28.1% 0 - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases HERC6 55008 genome.wustl.edu 37 4 89304513 89304513 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017912.3 +1 validated p.E114* 0.828 134 0% 279 35.5% 0 - - - - HMMPfam_RCC1,superfamily_RCC1/BLIP-II HERC6 55008 genome.wustl.edu 37 4 89345078 89345078 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017912.3 +1 validated p.N594H 0.018 83 0% 91 28.6% 1 0% possibly_damaging(0.847) deleterious(0.04) deleterious(0.674) NULL PIGY 84992 genome.wustl.edu 37 4 89443161 89443161 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032906.3 -1 reviewed p.E75K 1.000 186 0% 262 33.6% 51 50.9% possibly_damaging(0.765) tolerated(0.1) deleterious(0.571) HMMPfam_Trm112p FAM13A 10144 genome.wustl.edu 37 4 89653297 89653297 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014883.2 -1 validated p.V900A 1.000 215 0.5% 312 32.7% 6 16.6% possibly_damaging(0.757) tolerated(0.82) neutral(0.280) NULL GPRIN3 285513 genome.wustl.edu 37 4 90169386 90169386 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198281.2 -1 validated p.R626C 0.834 83 0% 99 41.4% 1 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL GPRIN3 285513 genome.wustl.edu 37 4 90170373 90170373 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198281.2 -1 validated p.E297* 1.000 81 0% 90 40% 0 - - - - NULL SNCA 6622 genome.wustl.edu 37 4 90650349 90650349 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000345.3 -1 reviewed p.S129F 1.000 145 0% 114 34.2% 6 16.6% possibly_damaging(0.749) deleterious(0.04) deleterious(0.624) HMMPfam_Synuclein SNCA 6622 genome.wustl.edu 37 4 90756815 90756815 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000345.3 -1 reviewed p.D2Y 1.000 234 0% 356 32% 3 33.3% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_Synuclein MMRN1 22915 genome.wustl.edu 37 4 90849082 90849082 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007351.2 +1 reviewed p.S364 0.993 101 0% 60 35% 1 0% - - - NULL MMRN1 22915 genome.wustl.edu 37 4 90856295 90856295 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007351.2 +1 reviewed p.L488 0.728 122 0% 79 30.4% 0 - - - - NULL MMRN1 22915 genome.wustl.edu 37 4 90856470 90856470 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007351.2 +1 reviewed p.S547P 0.038 99 0% 81 29.6% 2 0% possibly_damaging(0.805) deleterious(0.05) deleterious(0.648) NULL MMRN1 22915 genome.wustl.edu 37 4 90857607 90857607 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007351.2 +1 reviewed p.E926K 0.956 143 0.7% 102 35.3% 3 0% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL FAM190A 401145 genome.wustl.edu 37 4 91549190 91549190 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145065.1 +1 validated p.K580T 1.000 101 0% 134 38.1% 2 100% possibly_damaging(0.619) deleterious(0.02) deleterious(0.599) NULL GRID2 2895 genome.wustl.edu 37 4 94316827 94316827 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001510.2 +1 validated p.R439C 1.000 348 0% 263 33.1% 0 - probably_damaging(0.984) deleterious(0.03) deleterious(0.795) NULL GRID2 2895 genome.wustl.edu 37 4 94376855 94376855 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001510.2 +1 validated p.R530C 1.000 161 0% 147 27.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_PBPe,superfamily_SSF53850 ATOH1 474 genome.wustl.edu 37 4 94750656 94750656 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005172.1 +1 reviewed p.K193N 1.000 58 0% 60 36.7% 0 - possibly_damaging(0.793) deleterious(0) deleterious(0.742) HMMPfam_HLH,HMMSmart_HLH,superfamily_HLH_basic SMARCAD1 56916 genome.wustl.edu 37 4 95194801 95194801 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001128429.1 +1 validated p.L536M 1.000 310 0% 409 31.3% 14 57.1% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_SNF2_N,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases HPGDS 27306 genome.wustl.edu 37 4 95229877 95229877 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014485.2 -1 reviewed p.E82* 0.997 214 0% 164 33.5% 0 - - - - superfamily_Glutathione S-transferase (GST) C-terminal domain PDLIM5 10611 genome.wustl.edu 37 4 95376552 95376552 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000512274 +1 known p.K38T 0.810 91 0% 113 41.6% 0 - benign(0.113) - - NULL UNC5C 8633 genome.wustl.edu 37 4 96123919 96123919 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003728.2 -1 reviewed p.R700Q 1.000 142 0.7% 176 28.4% 7 85.7% probably_damaging(1) deleterious(0) deleterious(0.945) NULL METAP1 23173 genome.wustl.edu 37 4 99962203 99962203 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015143.2 +1 validated p.E148* 1.000 196 0% 222 35.6% 10 10% - - - HMMPfam_Peptidase_M24,superfamily_Creatinase/aminopeptidase ADH6 130 genome.wustl.edu 37 4 100128602 100128602 + Splice_Site SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001102470.1 -1 reviewed e7+1 1.000 222 0% 262 32.1% 4 50% - - - - ADH6 130 genome.wustl.edu 37 4 100137326 100137326 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001102470.1 -1 reviewed p.R38C 0.986 62 0% 99 38.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_GroES_like,HMMPfam_ADH_N ADH1C 126 genome.wustl.edu 37 4 100268965 100268965 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000669.3 -1 reviewed p.K19N 0.003 158 0% 193 29.5% 2 0% benign(0) tolerated(0.76) neutral(0.001) superfamily_GroES-like MTTP 4547 genome.wustl.edu 37 4 100503127 100503127 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000253.2 +1 reviewed p.L43I 0.553 230 0% 198 34.3% 0 - benign(0.309) tolerated(0.39) neutral(0.113) HMMPfam_Vitellogenin_N,HMMSmart_LPD_N,superfamily_Lipid_transp_b-sht_shell MTTP 4547 genome.wustl.edu 37 4 100512829 100512829 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000253.2 +1 reviewed p.A214T 0.946 174 0% 134 28.4% 0 - benign(0.309) tolerated(0.07) neutral(0.415) HMMPfam_Vitellogenin_N,HMMSmart_LPD_N,superfamily_Lipid_transp_b-sht_shell BANK1 55024 genome.wustl.edu 37 4 102839259 102839259 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017935.4 +1 reviewed p.K373N 0.000 141 0% 74 37.8% 0 - benign(0.044) tolerated(0.58) neutral(0.007) superfamily_Ankyrin repeat CISD2 493856 genome.wustl.edu 37 4 103806387 103806387 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001008388.3 +1 reviewed p.R40W 1.000 156 0% 261 36.8% 89 43.8% probably_damaging(0.996) tolerated(0.08) deleterious(0.762) HMMPfam_MitoNEET_N SLC9B2 133308 genome.wustl.edu 37 4 103966150 103966150 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178833.4 -1 validated p.S298Y 1.000 202 0% 189 26.5% 0 - probably_damaging(0.991) deleterious(0.04) deleterious(0.793) HMMPfam_Na_H_Exchanger CENPE 1062 genome.wustl.edu 37 4 104079584 104079584 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001813.2 -1 validated p.A969V 0.973 193 0% 102 26.5% 1 0% possibly_damaging(0.799) tolerated(0.18) neutral(0.357) NULL CENPE 1062 genome.wustl.edu 37 4 104081905 104081905 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001813.2 -1 validated p.K721 0.141 125 0% 81 30.9% 0 - - - - NULL TET2 54790 genome.wustl.edu 37 4 106164817 106164817 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001127208.1 +1 validated p.L1229I 0.982 173 0% 270 28.1% 4 25% possibly_damaging(0.933) tolerated(0.34) neutral(0.402) NULL TET2 54790 genome.wustl.edu 37 4 106193807 106193807 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001127208.1 +1 validated p.V1423 0.998 156 0% 244 36.1% 5 40% - - - NULL TET2 54790 genome.wustl.edu 37 4 106197205 106197205 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001127208.1 +1 validated p.V1846 0.998 77 0% 127 30.7% 5 60% - - - NULL PPA2 27068 genome.wustl.edu 37 4 106307787 106307787 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_176869.2 -1 reviewed p.N292 0.007 146 0% 142 31.7% 92 40.2% - - - superfamily_Inorganic pyrophosphatase GSTCD 79807 genome.wustl.edu 37 4 106746865 106746865 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001031720.2 +1 validated p.R480C 1.000 229 0% 293 35.5% 5 40% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_S-adenosyl-L-methionine-dependent methyltransferases PAPSS1 9061 genome.wustl.edu 37 4 108603275 108603275 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005443.4 -1 validated p.D189N 1.000 199 0% 141 26.2% 14 50% benign(0.354) deleterious(0.01) deleterious(0.518) HMMPfam_APS_kinase,superfamily_P-loop containing nucleoside triphosphate hydrolases LOC389217 389217 genome.wustl.edu 37 4 110474711 110474711 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_001717714.1 -1 model p.T193 0.966 16 0% 19 26.3% 0 - - - - HMMPfam_NAP CFI 3426 genome.wustl.edu 37 4 110667585 110667585 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000204.3 -1 reviewed p.V408I 0.000 192 0% 219 36.5% 29 6.8% benign(0) tolerated(0.22) neutral(0.042) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases CFI 3426 genome.wustl.edu 37 4 110673649 110673649 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000204.3 -1 reviewed p.E305D 0.628 138 0% 220 33.6% 17 5.8% benign(0.275) tolerated(0.17) neutral(0.088) superfamily_LDL receptor-like module LRIT3 345193 genome.wustl.edu 37 4 110791896 110791896 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198506.2 +1 validated p.S619Y 1.000 134 0% 159 23.9% 1 100% probably_damaging(0.976) tolerated(0.06) deleterious(0.740) NULL EGF 1950 genome.wustl.edu 37 4 110834560 110834560 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001963.4 +1 reviewed p.P23 0.000 192 0% 212 34.9% 0 - - - - NULL EGF 1950 genome.wustl.edu 37 4 110864427 110864427 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001963.4 +1 reviewed p.E115D 0.987 111 0% 110 22.7% 0 - benign(0.001) tolerated(0.8) neutral(0.001) HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825 EGF 1950 genome.wustl.edu 37 4 110864537 110864537 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001963.4 +1 reviewed p.I152T 0.365 119 0% 150 30% 0 - benign(0) tolerated(0.34) neutral(0.023) HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825 EGF 1950 genome.wustl.edu 37 4 110897208 110897208 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001963.4 +1 reviewed p.E624* 1.000 187 0% 224 29.9% 0 - - - - HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825 ENPEP 2028 genome.wustl.edu 37 4 111474533 111474533 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001977.3 +1 validated p.R855Q 0.916 366 0% 305 35.7% 8 25% benign(0.026) tolerated(0.64) neutral(0.004) NULL ENPEP 2028 genome.wustl.edu 37 4 111480832 111480832 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001977.3 +1 validated p.R891Q 0.999 265 0% 291 31.6% 13 7.6% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL AP1AR 55435 genome.wustl.edu 37 4 113189329 113189329 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018569.4 +1 validated p.R225C 1.000 108 0% 116 27.6% 11 36.3% benign(0.011) deleterious(0) neutral(0.445) NULL ALPK1 80216 genome.wustl.edu 37 4 113359735 113359735 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001102406.1 +1 validated p.F1095C 1.000 226 0% 253 39.9% 5 20% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Alpha_kinase,HMMSmart_SM00811,superfamily_Protein kinase-like (PK-like) C4orf21 55345 genome.wustl.edu 37 4 113468455 113468455 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000505019 -1 known p.R1862* 1.000 118 0% 182 34.1% 2 0% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases C4orf21 55345 genome.wustl.edu 37 4 113540239 113540239 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000505019 -1 known p.T320I 0.000 103 0% 104 37.5% 0 - probably_damaging(0.996) tolerated(0.19) deleterious(0.511) NULL MIR302C 442895 genome.wustl.edu 37 4 113569538 113569538 + RNA SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000362232 -1 known NULL 1.000 172 0% 214 33.6% 0 - - - - - ANK2 287 genome.wustl.edu 37 4 114163335 114163335 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001148.4 +1 reviewed p.D287E 1.000 297 0% 342 35.1% 1 0% benign(0) tolerated(0.67) neutral(0.003) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK ANK2 287 genome.wustl.edu 37 4 114264208 114264208 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000514960 +1 known p.R399W 1.000 344 0% 472 32.2% 0 - - - - NULL ANK2 287 genome.wustl.edu 37 4 114267087 114267087 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001148.4 +1 reviewed p.R1427Q 1.000 173 1.2% 103 30.1% 1 0% probably_damaging(1) - - NULL ANK2 287 genome.wustl.edu 37 4 114271387 114271387 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001148.4 +1 reviewed p.D1470N 1.000 190 0% 88 34.1% 2 50% benign(0.174) - - NULL ANK2 287 genome.wustl.edu 37 4 114277728 114277728 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001148.4 +1 reviewed p.L2652 0.006 178 0% 250 24.8% 0 - - - - NULL ARSJ 79642 genome.wustl.edu 37 4 114899595 114899595 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024590.3 -1 validated p.G132 1.000 69 0% 97 37.1% 1 0% - - - HMMPfam_Sulfatase,PatternScan_SULFATASE_1,superfamily_Alkaline phosphatase-like NDST4 64579 genome.wustl.edu 37 4 115858492 115858492 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022569.1 -1 provisional p.F463L 1.000 287 0% 312 25.3% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL TRAM1L1 133022 genome.wustl.edu 37 4 118006227 118006227 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152402.2 -1 validated p.R108K 0.616 192 0% 302 33.1% 7 28.5% benign(0.013) tolerated(0.71) neutral(0.002) HMMPfam_TRAM1 NDST3 9348 genome.wustl.edu 37 4 118975899 118975899 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004784.2 +1 reviewed p.F278L 0.999 278 0% 176 31.2% 0 - benign(0.053) tolerated(0.12) neutral(0.264) NULL NDST3 9348 genome.wustl.edu 37 4 119059286 119059286 + Silent SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004784.2 +1 reviewed p.L434 0.887 125 0% 127 37.8% 0 - - - - NULL NDST3 9348 genome.wustl.edu 37 4 119174662 119174662 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004784.2 +1 reviewed p.S803Y 1.000 82 0% 88 35.2% 0 - benign(0.126) deleterious(0.02) neutral(0.394) HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases SEC24D 9871 genome.wustl.edu 37 4 119736217 119736217 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014822.2 -1 reviewed p.Q256P 1.000 140 0% 228 30.7% 19 31.5% benign(0.002) tolerated(0.5) neutral(0.010) superfamily_beta-sandwich domain of Sec23/24 SEC24D 9871 genome.wustl.edu 37 4 119738496 119738496 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014822.2 -1 reviewed p.S107Y 0.160 267 0% 574 27.7% 14 42.8% possibly_damaging(0.92) deleterious(0.01) deleterious(0.776) NULL SYNPO2 171024 genome.wustl.edu 37 4 119952192 119952192 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_133477.2 +1 validated p.K754N 1.000 158 0% 175 34.9% 4 0% probably_damaging(1) tolerated(0.15) deleterious(0.741) NULL FABP2 2169 genome.wustl.edu 37 4 120240239 120240239 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000134.3 -1 reviewed p.V119A 0.000 192 0% 109 26.6% 0 - benign(0.001) tolerated(0.75) neutral(0.002) HMMPfam_Lipocalin,superfamily_Lipocalins PDE5A 8654 genome.wustl.edu 37 4 120427071 120427071 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001083.3 -1 reviewed p.F736V 1.000 105 0% 20 20% 3 33.3% probably_damaging(0.955) deleterious(0.04) deleterious(0.748) HMMPfam_PDEase_I,HMMSmart_SM00471,superfamily_HD-domain/PDEase-like PDE5A 8654 genome.wustl.edu 37 4 120446778 120446778 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001083.3 -1 reviewed p.L569M 0.994 211 0% 155 35.5% 3 33.3% benign(0) tolerated(0.19) neutral(0.050) superfamily_HD-domain/PDEase-like PDE5A 8654 genome.wustl.edu 37 4 120527901 120527901 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001083.3 -1 reviewed p.A235V 0.995 119 0% 124 31.5% 2 50% benign(0.121) deleterious(0.02) neutral(0.393) HMMPfam_GAF,HMMSmart_SM00065,superfamily_GAF domain-like QRFPR 84109 genome.wustl.edu 37 4 122251672 122251672 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000334383 -1 known p.E231* 1.000 150 0% 228 31.6% 0 - - - - HMMPfam_7tm_1 QRFPR 84109 genome.wustl.edu 37 4 122254041 122254041 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198179.2 -1 validated p.K244N 1.000 269 0% 276 29.7% 0 - possibly_damaging(0.461) tolerated(0.11) neutral(0.422) HMMPfam_7tm_1,superfamily_SSF81321 TMEM155 132332 genome.wustl.edu 37 4 122681518 122681518 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152399.2 -1 validated p.P108 0.001 192 0% 298 34.2% 0 - - - - NULL EXOSC9 5393 genome.wustl.edu 37 4 122723938 122723938 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001034194.1 +1 validated p.E91K 1.000 161 0.6% 247 33.6% 13 46.1% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_RNase_PH,superfamily_Ribosomal_S5_D2-typ_fold EXOSC9 5393 genome.wustl.edu 37 4 122731249 122731249 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001034194.1 +1 validated p.D245Y 1.000 173 0% 222 30.2% 24 45.8% possibly_damaging(0.945) deleterious(0.03) deleterious(0.754) HMMPfam_RNase_PH_C,superfamily_3_ExoRNase CCNA2 890 genome.wustl.edu 37 4 122740665 122740665 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001237.3 -1 validated p.K288N 1.000 224 0% 310 28.4% 15 60% probably_damaging(0.995) deleterious(0.02) deleterious(0.841) HMMSmart_SM00385,HMMPfam_Cyclin_N,superfamily_Cyclin-like BBS7 55212 genome.wustl.edu 37 4 122756386 122756386 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_176824.1 -1 reviewed p.R475I 1.000 440 0% 542 24.7% 3 0% possibly_damaging(0.926) deleterious(0.03) deleterious(0.739) NULL BBS7 55212 genome.wustl.edu 37 4 122774171 122774171 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_176824.1 -1 reviewed p.D263 1.000 349 0% 526 28.3% 5 60% - - - NULL BBS7 55212 genome.wustl.edu 37 4 122782752 122782752 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_176824.1 -1 reviewed p.F83C 1.000 211 0% 253 37.5% 16 43.7% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TRPC3 7222 genome.wustl.edu 37 4 122825563 122825563 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001130698.1 -1 validated p.L723I 1.000 178 0% 153 20.9% 0 - probably_damaging(1) tolerated(0.08) deleterious(0.800) HMMPfam_Ion_trans TRPC3 7222 genome.wustl.edu 37 4 122828662 122828662 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001130698.1 -1 validated p.A618D 1.000 63 0% 41 26.8% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans KIAA1109 84162 genome.wustl.edu 37 4 123091866 123091866 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015312.3 +1 reviewed p.E22* 1.000 233 0% 251 21.5% 1 100% - - - NULL KIAA1109 84162 genome.wustl.edu 37 4 123128276 123128276 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015312.3 +1 reviewed p.D504Y 1.000 135 0% 79 26.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL KIAA1109 84162 genome.wustl.edu 37 4 123147884 123147884 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015312.3 +1 reviewed p.G939E 1.000 199 0% 318 29.2% 1 0% probably_damaging(0.965) tolerated(0.05) deleterious(0.752) NULL KIAA1109 84162 genome.wustl.edu 37 4 123168473 123168473 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015312.3 +1 reviewed p.H1825N 1.000 251 0% 231 41.1% 5 100% possibly_damaging(0.806) tolerated(0.74) neutral(0.305) NULL KIAA1109 84162 genome.wustl.edu 37 4 123178643 123178643 + Silent SNP C C T rs79188364 TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000419325 +1 known p.R162* 1.000 177 0% 130 50.8% 7 57.1% - - - NULL KIAA1109 84162 genome.wustl.edu 37 4 123192396 123192396 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015312.3 +1 reviewed p.R2573C 1.000 125 0% 121 28.1% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL KIAA1109 84162 genome.wustl.edu 37 4 123255554 123255554 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015312.3 +1 reviewed p.S3901Y 1.000 200 0% 168 29.8% 4 75% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL KIAA1109 84162 genome.wustl.edu 37 4 123283345 123283345 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000306802 +1 known p.S1363L 0.178 123 0% 147 25.9% 30 56.6% - - - HMMPfam_FSA_C ADAD1 132612 genome.wustl.edu 37 4 123336572 123336572 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_139243.3 +1 validated p.A430T 1.000 169 0% 214 30.4% 0 - possibly_damaging(0.568) deleterious(0.02) deleterious(0.578) HMMPfam_A_deamin,HMMSmart_SM00552 ADAD1 132612 genome.wustl.edu 37 4 123350880 123350880 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_139243.3 +1 validated p.Q573* 0.989 141 0% 169 33.1% 0 - - - - HMMSmart_SM00552 BBS12 166379 genome.wustl.edu 37 4 123663688 123663688 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152618.2 +1 reviewed p.R214Q 0.000 82 0% 99 35.4% 4 50% benign(0) tolerated(0.67) neutral(0.003) HMMPfam_Cpn60_TCP1,superfamily_GroEL equatorial domain-like NUDT6 11162 genome.wustl.edu 37 4 123814013 123814013 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007083.3 -1 validated p.E307D 0.043 72 0% 74 16.2% 4 25% benign(0) tolerated(0.64) neutral(0.003) NULL NUDT6 11162 genome.wustl.edu 37 4 123833751 123833751 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007083.3 -1 validated p.K157R 1.000 119 0% 106 28.3% 4 25% benign(0.159) tolerated(0.08) neutral(0.314) HMMPfam_NUDIX,superfamily_Nudix SPATA5 166378 genome.wustl.edu 37 4 123978405 123978405 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145207.2 +1 validated p.F725L 1.000 213 0% 252 27% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00382,HMMPfam_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases ANKRD50 57182 genome.wustl.edu 37 4 125590795 125590795 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020337.2 -1 validated p.S1213P 1.000 144 0% 97 29.9% 10 10% benign(0.255) deleterious(0) deleterious(0.471) NULL ANKRD50 57182 genome.wustl.edu 37 4 125593296 125593296 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020337.2 -1 validated p.S379L 0.999 262 0% 150 33.3% 3 66.6% benign(0.005) deleterious(0) neutral(0.445) NULL FAT4 79633 genome.wustl.edu 37 4 126240401 126240401 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024582.4 +1 validated p.K945 1.000 107 0% 129 27.9% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FAT4 79633 genome.wustl.edu 37 4 126240669 126240669 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024582.4 +1 validated p.I1035V 1.000 106 0% 143 33.6% 0 - benign(0.073) tolerated(0.16) neutral(0.065) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FAT4 79633 genome.wustl.edu 37 4 126328204 126328204 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024582.4 +1 validated p.R1826I 1.000 112 0% 108 30.6% 1 0% probably_damaging(0.989) tolerated(0.47) neutral(0.451) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FAT4 79633 genome.wustl.edu 37 4 126371152 126371152 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024582.4 +1 validated p.K2994T 1.000 68 0% 65 35.4% 0 - probably_damaging(0.974) deleterious(0.01) deleterious(0.822) HMMPfam_Cadherin,superfamily_Cadherin-like FAT4 79633 genome.wustl.edu 37 4 126371388 126371388 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024582.4 +1 validated p.A3073S 0.998 157 0% 160 33.1% 0 - benign(0.007) deleterious(0.03) neutral(0.364) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FAT4 79633 genome.wustl.edu 37 4 126372183 126372183 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024582.4 +1 validated p.F3338V 1.000 156 0% 159 30.2% 0 - benign(0.029) tolerated(1) neutral(0.002) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FAT4 79633 genome.wustl.edu 37 4 126372196 126372196 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024582.4 +1 validated p.R3342Q 1.000 158 0% 157 33.8% 0 - probably_damaging(0.998) tolerated(0.16) deleterious(0.534) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FAT4 79633 genome.wustl.edu 37 4 126372958 126372958 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024582.4 +1 validated p.S3596Y 1.000 77 0% 77 33.8% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FAT4 79633 genome.wustl.edu 37 4 126389878 126389878 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024582.4 +1 validated p.F4037L 1.000 142 0% 167 32.9% 4 50% benign(0.02) tolerated(0.09) neutral(0.297) HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 FAT4 79633 genome.wustl.edu 37 4 126398378 126398378 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024582.4 +1 validated p.R4121I 1.000 244 0% 314 33.8% 1 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 FAT4 79633 genome.wustl.edu 37 4 126412648 126412648 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024582.4 +1 validated p.R4891* 0.122 78 0% 100 40% 10 60% - - - NULL INTU 27152 genome.wustl.edu 37 4 128554272 128554272 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015693.3 +1 validated p.D28A 0.079 147 0% 132 32.6% 1 100% benign(0.055) deleterious(0.04) neutral(0.352) NULL SLC25A31 83447 genome.wustl.edu 37 4 128688232 128688232 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031291.2 +1 validated p.R164* 1.000 284 0% 307 30.9% 0 - - - - superfamily_Mitoch_carrier,HMMPfam_Mito_carr SLC25A31 83447 genome.wustl.edu 37 4 128694685 128694685 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031291.2 +1 validated p.D302Y 1.000 437 0% 418 16.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Mitoch_carrier,HMMPfam_Mito_carr HSPA4L 22824 genome.wustl.edu 37 4 128722949 128722949 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014278.2 +1 provisional p.A180V 1.000 243 0% 243 28% 0 - probably_damaging(0.973) deleterious(0.02) deleterious(0.798) HMMPfam_HSP70,superfamily_SSF53067 HSPA4L 22824 genome.wustl.edu 37 4 128753837 128753837 + Splice_Site SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014278.2 +1 provisional e19-1 1.000 94 0% 113 18.6% 2 100% - - - - PLK4 10733 genome.wustl.edu 37 4 128807128 128807128 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014264.3 +1 reviewed p.F201 1.000 243 0% 488 32.6% 2 50% - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase PLK4 10733 genome.wustl.edu 37 4 128812325 128812325 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014264.3 +1 reviewed p.L637I 0.997 157 0% 199 27.6% 2 50% probably_damaging(0.999) tolerated(0.31) deleterious(0.517) superfamily_Kinase_like LARP1B 55132 genome.wustl.edu 37 4 129028409 129028409 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018078.2 +1 reviewed p.F310S 1.000 141 0% 207 36.2% 22 36.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PGRMC2 10424 genome.wustl.edu 37 4 129193540 129193540 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006320.4 -1 validated p.R184Q 1.000 121 0% 126 34.9% 90 51.1% possibly_damaging(0.921) tolerated(0.08) deleterious(0.671) HMMPfam_Cyt-b5,superfamily_Cyt_B5 PCDH18 54510 genome.wustl.edu 37 4 138451025 138451025 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019035.3 -1 reviewed p.E740K 1.000 319 0% 398 31.9% 8 0% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL PCDH18 54510 genome.wustl.edu 37 4 138452040 138452040 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019035.3 -1 reviewed p.G401 0.075 194 0% 163 23.9% 3 33.3% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like SLC7A11 23657 genome.wustl.edu 37 4 139153501 139153501 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014331.3 -1 validated p.G147E 1.000 107 0% 164 37.2% 5 40% benign(0.341) deleterious(0) deleterious(0.552) HMMPfam_AA_permease CCRN4L 25819 genome.wustl.edu 37 4 139965925 139965925 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012118.2 +1 reviewed p.H198R 1.000 102 0% 162 29% 16 56.2% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Exo_endo_phos,superfamily_Exo_endo_phos ELF2 1998 genome.wustl.edu 37 4 139983123 139983123 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_201999.1 -1 validated p.E222D 0.999 223 0% 320 34.7% 3 0% benign(0.307) tolerated(0.06) neutral(0.418) HMMPfam_Ets,HMMSmart_ETS,superfamily_SSF46785 C4orf49 84709 genome.wustl.edu 37 4 140187926 140187926 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032623.3 -1 validated p.L184 0.000 290 0% 671 32.2% 1 0% - - - NULL MAML3 55534 genome.wustl.edu 37 4 140811599 140811599 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018717.4 -1 validated p.E331K 1.000 98 0% 145 30.3% 2 100% probably_damaging(0.998) tolerated(0.14) deleterious(0.724) NULL SCOC 60592 genome.wustl.edu 37 4 141300287 141300287 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032547.2 +1 reviewed p.R28I 0.003 456 0% 548 31% 21 47.6% benign(0.167) tolerated(0.05) neutral(0.360) NULL TBC1D9 23158 genome.wustl.edu 37 4 141580846 141580846 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015130.2 -1 validated p.V606A 1.000 90 0% 168 36.3% 4 50% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p TBC1D9 23158 genome.wustl.edu 37 4 141592016 141592016 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015130.2 -1 validated p.R375Q 1.000 228 0% 351 32.8% 1 100% possibly_damaging(0.471) tolerated(0.06) deleterious(0.478) NULL INPP4B 8821 genome.wustl.edu 37 4 143130163 143130163 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001101669.1 -1 reviewed p.E285* 1.000 169 0% 188 69.7% 0 - - - - NULL SMARCA5 8467 genome.wustl.edu 37 4 144438535 144438535 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003601.2 +1 reviewed p.K69Q 1.000 189 0% 195 29.7% 8 62.5% benign(0.086) tolerated(0.38) neutral(0.024) superfamily_SSF52540 SMARCA5 8467 genome.wustl.edu 37 4 144469190 144469190 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003601.2 +1 reviewed p.K961T 1.000 137 0% 144 37.5% 121 41.3% possibly_damaging(0.864) deleterious(0) deleterious(0.779) HMMSmart_SANT,superfamily_Homeodomain_like,HMMPfam_SLIDE FREM3 166752 genome.wustl.edu 37 4 144498871 144498871 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000329798 -1 known p.L2105I 1.000 183 0% 215 38.6% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_Calx-beta,HMMSmart_SM00237 FREM3 166752 genome.wustl.edu 37 4 144616969 144616969 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000329798 -1 known p.F1620L 1.000 264 0% 328 25% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL FREM3 166752 genome.wustl.edu 37 4 144621307 144621307 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000329798 -1 known p.R174 1.000 28 0% 25 20% 0 - - - - NULL HHIP 64399 genome.wustl.edu 37 4 145567969 145567969 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022475.1 +1 reviewed p.L48M 1.000 163 0% 232 34.9% 2 0% probably_damaging(0.954) tolerated(0.05) deleterious(0.743) HMMPfam_Folate_rec HHIP 64399 genome.wustl.edu 37 4 145581041 145581041 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000434550 +1 known p.I294M 0.346 20 0% 11 54.5% 0 - possibly_damaging(0.811) tolerated(0.24) neutral(0.343) NULL POU4F2 5458 genome.wustl.edu 37 4 147561045 147561045 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004575.2 +1 validated p.E105D 1.000 199 0% 206 35.9% 0 - benign(0.184) tolerated(0.24) neutral(0.054) NULL POU4F2 5458 genome.wustl.edu 37 4 147561165 147561165 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004575.2 +1 validated p.M145I 1.000 279 0% 371 35.8% 0 - possibly_damaging(0.496) deleterious(0) deleterious(0.610) NULL POU4F2 5458 genome.wustl.edu 37 4 147561582 147561582 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004575.2 +1 validated p.A284 1.000 70 0% 58 37.9% 0 - - - - HMMPfam_Pou,HMMSmart_SM00352,superfamily_lambda repressor-like DNA-binding domains TTC29 83894 genome.wustl.edu 37 4 147788658 147788658 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031956.2 -1 validated p.A293T 0.969 141 0% 89 22.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like PRMT10 90826 genome.wustl.edu 37 4 148582067 148582067 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138364.2 -1 provisional p.R359Q 1.000 124 0% 130 26.2% 2 50% possibly_damaging(0.944) tolerated(0.38) neutral(0.406) superfamily_S-adenosyl-L-methionine-dependent methyltransferases PRMT10 90826 genome.wustl.edu 37 4 148591848 148591848 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138364.2 -1 provisional p.E264* 1.000 182 0% 312 34.3% 3 0% - - - superfamily_S-adenosyl-L-methionine-dependent methyltransferases NR3C2 4306 genome.wustl.edu 37 4 149041369 149041369 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000901.4 -1 reviewed p.R861* 1.000 179 0% 270 34.4% 0 - - - - HMMPfam_Hormone_recep,HMMSmart_HOLI,superfamily_Str_ncl_receptor NR3C2 4306 genome.wustl.edu 37 4 149357226 149357226 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000901.4 -1 reviewed p.S263R 1.000 117 0% 146 37.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL NR3C2 4306 genome.wustl.edu 37 4 149357283 149357283 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000901.4 -1 reviewed p.R244* 0.702 121 0% 132 31.1% 2 0% - - - NULL DCLK2 166614 genome.wustl.edu 37 4 151119184 151119184 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001040260.2 +1 validated p.R297Q 1.000 250 0% 329 24.3% 1 100% benign(0.419) tolerated(0.34) neutral(0.159) NULL MAB21L2 10586 genome.wustl.edu 37 4 151504369 151504369 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006439.4 +1 reviewed p.Y63C 1.000 60 0% 59 30.5% 0 - benign(0.278) deleterious(0.05) neutral(0.375) HMMPfam_Mab-21 MAB21L2 10586 genome.wustl.edu 37 4 151504883 151504883 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006439.4 +1 reviewed p.F234 1.000 27 0% 27 18.5% 0 - - - - HMMPfam_Mab-21 LRBA 987 genome.wustl.edu 37 4 151821202 151821202 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006726.2 -1 validated p.L641 0.997 110 0% 86 38.4% 9 66.6% - - - superfamily_ARM repeat LRBA 987 genome.wustl.edu 37 4 151850005 151850005 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006726.2 -1 validated p.K143N 0.944 189 0% 207 35.3% 2 50% benign(0.15) tolerated(0.5) neutral(0.023) superfamily_ARM repeat FAM160A1 729830 genome.wustl.edu 37 4 152550986 152550986 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001109977.1 +1 predicted p.D371Y 1.000 141 0% 126 41.3% 3 33.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_RAI16-like FAM160A1 729830 genome.wustl.edu 37 4 152559868 152559868 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001109977.1 +1 predicted p.G396C 1.000 386 0% 374 29.9% 4 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_RAI16-like FAM160A1 729830 genome.wustl.edu 37 4 152577430 152577430 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001109977.1 +1 predicted p.E866 1.000 184 0% 179 35.8% 9 44.4% - - - NULL FBXW7 55294 genome.wustl.edu 37 4 153250916 153250916 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033632.2 -1 reviewed p.H382N 1.000 141 0% 100 37% 5 20% probably_damaging(0.99) tolerated(0.06) deleterious(0.764) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 TIGD4 201798 genome.wustl.edu 37 4 153691189 153691189 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145720.2 -1 reviewed p.I323S 1.000 151 0% 183 30.6% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_DDE FHDC1 85462 genome.wustl.edu 37 4 153881906 153881906 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033393.2 +1 validated p.R254W 1.000 315 0% 375 29.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_FH2,HMMPfam_FH2,superfamily_FH2_actin_bd KIAA0922 23240 genome.wustl.edu 37 4 154507477 154507477 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015196.3 +1 validated p.T475 1.000 214 0% 285 33% 1 0% - - - NULL KIAA0922 23240 genome.wustl.edu 37 4 154525248 154525248 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015196.3 +1 validated p.E1027D 0.939 47 0% 62 37.1% 2 50% probably_damaging(0.983) deleterious(0.04) deleterious(0.778) NULL TLR2 7097 genome.wustl.edu 37 4 154624535 154624535 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003264.3 +1 reviewed p.M159T 0.000 57 0% 82 34.1% 1 0% benign(0) tolerated(0.67) neutral(0.003) superfamily_SSF52058 TLR2 7097 genome.wustl.edu 37 4 154625226 154625226 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003264.3 +1 reviewed p.L389 0.000 69 0% 52 40.4% 1 0% - - - superfamily_SSF52058 DCHS2 54798 genome.wustl.edu 37 4 155156777 155156777 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017639.3 -1 validated p.I2554 0.062 112 0.9% 81 32.1% 0 - - - - NULL DCHS2 54798 genome.wustl.edu 37 4 155157356 155157356 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017639.3 -1 validated p.H2361 0.000 94 0% 109 31.2% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like DCHS2 54798 genome.wustl.edu 37 4 155160341 155160341 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017639.3 -1 validated p.F2036L 0.424 105 0% 75 37.3% 0 - probably_damaging(0.971) deleterious(0) deleterious(0.857) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like DCHS2 54798 genome.wustl.edu 37 4 155160445 155160445 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017639.3 -1 validated p.P2002T 1.000 135 0% 100 31% 0 - possibly_damaging(0.477) tolerated(0.16) neutral(0.217) HMMPfam_Cadherin,superfamily_Cadherin-like DCHS2 54798 genome.wustl.edu 37 4 155191159 155191159 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017639.3 -1 validated p.S1702Y 0.386 83 0% 41 43.9% 0 - probably_damaging(0.96) deleterious(0.04) deleterious(0.752) HMMPfam_Cadherin,superfamily_Cadherin-like DCHS2 54798 genome.wustl.edu 37 4 155241729 155241729 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017639.3 -1 validated p.I1153L 0.733 374 0% 376 32.7% 0 - benign(0.004) tolerated(0.61) neutral(0.004) HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like DCHS2 54798 genome.wustl.edu 37 4 155242340 155242340 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017639.3 -1 validated p.S949Y 0.999 214 0% 93 34.4% 0 - possibly_damaging(0.852) tolerated(1) neutral(0.328) superfamily_Cadherin-like DCHS2 54798 genome.wustl.edu 37 4 155410666 155410666 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142552.1 -1 validated p.A614 0.015 79 0% 72 37.5% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PLRG1 5356 genome.wustl.edu 37 4 155465672 155465672 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002669.2 -1 provisional p.K173N 1.000 405 0% 402 33.1% 26 34.6% benign(0.244) tolerated(0.48) neutral(0.035) NULL PLRG1 5356 genome.wustl.edu 37 4 155470047 155470047 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002669.2 -1 provisional p.S17L 1.000 239 0% 265 36.6% 19 42.1% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL FGA 2243 genome.wustl.edu 37 4 155505388 155505388 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000508.3 -1 reviewed p.R830M 0.011 123 0% 106 34.9% 0 - probably_damaging(0.985) deleterious(0) deleterious(0.877) HMMPfam_Fibrinogen_C,HMMSmart_SM00186,superfamily_Fibrinogen C-terminal domain-like FGA 2243 genome.wustl.edu 37 4 155505901 155505901 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000508.3 -1 reviewed p.F659C 1.000 60 0% 47 31.9% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_Fibrinogen_C,HMMSmart_SM00186,superfamily_Fibrinogen C-terminal domain-like FGA 2243 genome.wustl.edu 37 4 155507870 155507870 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000508.3 -1 reviewed p.F237L 0.378 266 0% 225 32% 0 - benign(0.384) deleterious(0.01) deleterious(0.528) HMMPfam_Fib_alpha FGA 2243 genome.wustl.edu 37 4 155508783 155508783 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000508.3 -1 reviewed p.S131P 0.996 327 0% 347 34% 0 - possibly_damaging(0.63) deleterious(0.01) deleterious(0.626) HMMPfam_Fib_alpha FGA 2243 genome.wustl.edu 37 4 155510624 155510624 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000508.3 -1 reviewed p.D49Y 1.000 188 0% 129 33.3% 0 - probably_damaging(0.964) deleterious(0) deleterious(0.851) HMMPfam_Fib_alpha FGG 2266 genome.wustl.edu 37 4 155529767 155529767 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021870.2 -1 reviewed p.W234C 1.000 191 0% 128 32.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Fibrinogen_C,HMMSmart_SM00186,superfamily_Fibrinogen C-terminal domain-like FGG 2266 genome.wustl.edu 37 4 155530927 155530927 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000407946 -1 known p.S182Y 0.011 118 0% 69 33.3% 0 - benign(0.095) tolerated(0.05) neutral(0.352) HMMSmart_SM00186,superfamily_Fibrinogen C-terminal domain-like FGG 2266 genome.wustl.edu 37 4 155531339 155531339 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021870.2 -1 reviewed p.E138* 1.000 205 0% 165 28.5% 0 - - - - NULL FGG 2266 genome.wustl.edu 37 4 155533728 155533728 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021870.2 -1 reviewed p.L12I 0.006 153 0% 105 23.8% 0 - benign(0.086) deleterious(0) neutral(0.451) NULL RBM46 166863 genome.wustl.edu 37 4 155749198 155749198 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144979.3 +1 validated p.S527 1.000 190 0% 171 30.4% 0 - - - - NULL NPY2R 4887 genome.wustl.edu 37 4 156135785 156135785 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000910.2 +1 provisional p.L232M 0.998 124 0% 165 21.8% 0 - probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like MAP9 79884 genome.wustl.edu 37 4 156269046 156269046 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001039580.1 -1 validated p.E611D 0.958 205 0% 210 25.7% 23 39.1% probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL MAP9 79884 genome.wustl.edu 37 4 156294597 156294597 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001039580.1 -1 validated p.D58Y 0.996 71 0% 84 31% 2 50% probably_damaging(0.995) deleterious(0.02) deleterious(0.841) NULL GUCY1A3 2982 genome.wustl.edu 37 4 156629393 156629393 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000856.4 +1 validated p.S108Y 0.014 80 0% 61 29.5% 4 75% possibly_damaging(0.822) deleterious(0.01) deleterious(0.717) NULL GUCY1B3 2983 genome.wustl.edu 37 4 156715045 156715045 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000857.2 +1 validated p.Q178P 1.000 65 0% 73 39.7% 4 25% benign(0.017) tolerated(0.17) neutral(0.059) superfamily_H-NOX domain GUCY1B3 2983 genome.wustl.edu 37 4 156723458 156723458 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000507146 +1 known p.I355M 0.000 123 0% 119 37% 0 - benign(0.019) - - HMMPfam_HNOBA ASIC5 51802 genome.wustl.edu 37 4 156775387 156775387 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017419.2 -1 reviewed p.E143* 0.046 179 0% 91 28.6% 0 - - - - HMMPfam_ASC GRIA2 2891 genome.wustl.edu 37 4 158262533 158262533 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000826.3 +1 reviewed p.I654 1.000 269 0% 180 28.3% 0 - - - - HMMPfam_Lig_chan,HMMSmart_PBPe,superfamily_SSF53850 GRIA2 2891 genome.wustl.edu 37 4 158284073 158284073 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000510854 +1 known p.E174K 1.000 363 0% 288 25.7% 5 0% - - - NULL GRIA2 2891 genome.wustl.edu 37 4 158284179 158284179 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000826.3 +1 reviewed p.E879K 1.000 172 0% 151 23.2% 3 0% possibly_damaging(0.556) deleterious(0.01) deleterious(0.595) NULL FAM198B 51313 genome.wustl.edu 37 4 159048598 159048598 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001031700.2 -1 validated p.I515 1.000 332 0% 300 29% 4 25% - - - NULL TMEM144 55314 genome.wustl.edu 37 4 159133911 159133911 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018342.4 +1 validated p.K31T 1.000 367 0% 386 41.7% 2 50% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_DUF1632 TMEM144 55314 genome.wustl.edu 37 4 159134020 159134020 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000509278 +1 known p.N67 0.011 97 0% 73 50.7% 1 100% - - - NULL RXFP1 59350 genome.wustl.edu 37 4 159559221 159559221 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021634.2 +1 provisional p.L345F 1.000 142 0% 124 28.2% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMSmart_SM00369,superfamily_L domain-like RAPGEF2 9693 genome.wustl.edu 37 4 160251128 160251128 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014247.2 +1 validated p.R262Q 1.000 179 0% 283 31.4% 2 50% probably_damaging(1) tolerated(0.08) deleterious(0.800) superfamily_Ras_GEF RAPGEF2 9693 genome.wustl.edu 37 4 160253611 160253611 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014247.2 +1 validated p.E472* 1.000 62 0% 105 32.4% 0 - - - - superfamily_PDZ,superfamily_Ras_GEF RAPGEF2 9693 genome.wustl.edu 37 4 160259488 160259488 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014247.2 +1 validated p.D560N 1.000 126 0% 168 33.3% 3 66.6% probably_damaging(1) deleterious(0.03) deleterious(0.865) superfamily_Ras_GEF RAPGEF2 9693 genome.wustl.edu 37 4 160262962 160262962 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014247.2 +1 validated p.Q766H 1.000 152 0% 132 26.5% 2 50% benign(0.02) deleterious(0.02) neutral(0.384) HMMPfam_RasGEF,HMMSmart_RasGEF,superfamily_Ras_GEF FSTL5 56884 genome.wustl.edu 37 4 162307254 162307254 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020116.3 -1 validated p.A730D 0.917 146 0% 110 34.5% 0 - possibly_damaging(0.786) tolerated(0.24) neutral(0.332) superfamily_Amine_DH_B_like FSTL5 56884 genome.wustl.edu 37 4 162307475 162307475 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020116.3 -1 validated p.H656Q 0.986 133 0% 149 28.2% 0 - possibly_damaging(0.946) tolerated(0.08) deleterious(0.690) superfamily_Amine_DH_B_like FSTL5 56884 genome.wustl.edu 37 4 162459435 162459435 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020116.3 -1 validated p.H399N 1.000 201 0% 249 35.7% 0 - probably_damaging(0.991) deleterious(0.02) deleterious(0.827) HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 NPY5R 4889 genome.wustl.edu 37 4 164271868 164271868 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006174.2 +1 provisional p.S148Y 0.954 312 0% 353 33.4% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_7tm_1,superfamily_SSF81321 NPY5R 4889 genome.wustl.edu 37 4 164272125 164272125 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006174.2 +1 provisional p.V234I 1.000 88 0% 131 38.9% 0 - possibly_damaging(0.851) tolerated(0.49) neutral(0.338) HMMPfam_7tm_1,superfamily_SSF81321 TKTL2 84076 genome.wustl.edu 37 4 164393463 164393463 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032136.4 -1 validated p.R475Q 0.877 179 0% 263 43.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Transket_pyr,superfamily_SSF52518 MSMO1 6307 genome.wustl.edu 37 4 166263025 166263025 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006745.3 +1 reviewed p.R270Q 0.008 193 0% 191 36.6% 39 58.9% benign(0.086) tolerated(0.12) neutral(0.267) NULL MIR578 693163 genome.wustl.edu 37 4 166307399 166307399 + RNA SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000384828 +1 known NULL 0.016 73 0% 61 29.5% 0 - - - - - CPE 1363 genome.wustl.edu 37 4 166418711 166418711 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001873.2 +1 reviewed p.K460N 1.000 300 0% 314 33.8% 49 59.1% unknown(0) tolerated(0.07) - HMMSmart_SM00631,superfamily_Carboxypeptidase regulatory domain TLL1 7092 genome.wustl.edu 37 4 166915548 166915548 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012464.3 +1 reviewed p.N126T 0.813 134 0% 109 37.6% 0 - benign(0) tolerated(0.63) neutral(0.004) NULL TLL1 7092 genome.wustl.edu 37 4 166960515 166960515 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012464.3 +1 reviewed p.D395N 1.000 337 0.3% 239 25.9% 0 - probably_damaging(0.988) tolerated(0.21) deleterious(0.481) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain TLL1 7092 genome.wustl.edu 37 4 166976333 166976333 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012464.3 +1 reviewed p.D544Y 1.000 238 0% 256 27.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain TLL1 7092 genome.wustl.edu 37 4 166999140 166999140 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012464.3 +1 reviewed p.C800* 1.000 129 0% 124 29% 0 - - - - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain DDX60 55601 genome.wustl.edu 37 4 169189052 169189052 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017631.5 -1 validated p.R957C 0.000 265 0% 297 32.7% 0 - benign(0.002) tolerated(0.06) neutral(0.323) superfamily_P-loop containing nucleoside triphosphate hydrolases DDX60 55601 genome.wustl.edu 37 4 169201707 169201707 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017631.5 -1 validated p.K586T 0.056 161 0% 134 40.3% 2 0% benign(0.003) tolerated(0.52) neutral(0.009) NULL DDX60 55601 genome.wustl.edu 37 4 169209362 169209362 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017631.5 -1 validated p.K382N 1.000 110 0% 116 28.4% 1 0% probably_damaging(0.985) deleterious(0.01) deleterious(0.838) NULL DDX60L 91351 genome.wustl.edu 37 4 169317246 169317246 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001012967.1 -1 validated p.K1174T 0.003 82 0% 64 40.6% 2 0% benign(0.013) tolerated(0.19) neutral(0.050) superfamily_P-loop containing nucleoside triphosphate hydrolases DDX60L 91351 genome.wustl.edu 37 4 169325206 169325206 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001012967.1 -1 validated p.D1089Y 0.000 101 0% 89 23.6% 2 50% possibly_damaging(0.931) deleterious(0.05) deleterious(0.723) superfamily_P-loop containing nucleoside triphosphate hydrolases DDX60L 91351 genome.wustl.edu 37 4 169343798 169343798 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001012967.1 -1 validated p.K707N 0.002 298 0% 366 30.6% 0 - benign(0) tolerated(0.53) neutral(0.007) NULL DDX60L 91351 genome.wustl.edu 37 4 169362566 169362566 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001012967.1 -1 validated p.E406* 0.023 169 0% 257 30.7% 1 0% - - - NULL PALLD 23022 genome.wustl.edu 37 4 169632940 169632940 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016081.3 +1 reviewed p.T610 0.000 141 0% 213 40.8% 11 27.2% - - - NULL NEK1 4750 genome.wustl.edu 37 4 170384532 170384532 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012224.1 -1 validated p.E789* 1.000 95 0% 39 30.8% 1 0% - - - NULL NEK1 4750 genome.wustl.edu 37 4 170429410 170429410 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012224.1 -1 validated p.R580C 1.000 291 0% 329 32.8% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL NEK1 4750 genome.wustl.edu 37 4 170476995 170476995 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012224.1 -1 validated p.L480M 0.353 201 0% 251 33.1% 0 - benign(0.002) tolerated(0.14) neutral(0.249) NULL AADAT 51166 genome.wustl.edu 37 4 171009688 171009688 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016228.3 -1 reviewed p.S32L 0.964 162 0% 209 36.8% 10 50% possibly_damaging(0.544) tolerated(0.1) deleterious(0.471) superfamily_PLP-dependent transferases GALNTL6 442117 genome.wustl.edu 37 4 172735732 172735732 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001034845.2 +1 validated p.M1L 1.000 319 0% 359 29.8% 0 - benign(0.192) deleterious(0) neutral(0.463) NULL GALNTL6 442117 genome.wustl.edu 37 4 173730640 173730640 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001034845.2 +1 validated p.L228M 1.000 121 0% 116 35.3% 0 - possibly_damaging(0.925) tolerated(0.13) deleterious(0.626) HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases GALNT7 51809 genome.wustl.edu 37 4 174238815 174238815 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017423.2 +1 reviewed p.D547Y 1.000 283 0.7% 264 32.2% 10 90% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ricin_B_lectin,HMMSmart_SM00458,superfamily_Ricin B-like lectins HMGB2 3148 genome.wustl.edu 37 4 174253272 174253272 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001130688.1 -1 reviewed p.E197* 0.997 453 0% 831 37.1% 153 48.3% - - - NULL SCRG1 11341 genome.wustl.edu 37 4 174312389 174312389 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007281.2 -1 reviewed p.F59L 1.000 174 0% 347 34.6% 1 0% possibly_damaging(0.465) deleterious(0) deleterious(0.598) NULL MORF4 10934 genome.wustl.edu 37 4 174537479 174537479 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006792.2 -1 validated p.L106I 0.998 270 0.4% 367 28.9% 0 - - - - HMMPfam_MRG HPGD 3248 genome.wustl.edu 37 4 175414339 175414339 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000860.4 -1 reviewed p.H209N 0.001 289 0% 187 34.2% 4 75% benign(0) tolerated(0.54) neutral(0.007) superfamily_NAD(P)-bd ADAM29 11086 genome.wustl.edu 37 4 175897323 175897323 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001130703.1 +1 reviewed p.R216M 0.000 165 0% 179 22.9% 0 - possibly_damaging(0.886) deleterious(0.04) deleterious(0.696) "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" ADAM29 11086 genome.wustl.edu 37 4 175897816 175897816 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001130703.1 +1 reviewed p.E380D 0.000 287 0.3% 394 35.5% 0 - benign(0.034) tolerated(0.56) neutral(0.009) "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" WDR17 116966 genome.wustl.edu 37 4 177041043 177041043 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_170710.4 +1 reviewed p.C135* 1.000 224 0% 239 35.1% 0 - - - - superfamily_Amine_DH_B_like WDR17 116966 genome.wustl.edu 37 4 177052800 177052800 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_170710.4 +1 reviewed p.P361T 1.000 484 0% 631 34.9% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) superfamily_Amine_DH_B_like,superfamily_WD40_like WDR17 116966 genome.wustl.edu 37 4 177067288 177067288 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_170710.4 +1 reviewed p.L582I 0.996 220 0% 246 34.1% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 WDR17 116966 genome.wustl.edu 37 4 177071081 177071081 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_170710.4 +1 reviewed p.S698Y 0.957 163 0% 141 30.5% 0 - possibly_damaging(0.623) tolerated(0.21) neutral(0.261) NULL SPATA4 132851 genome.wustl.edu 37 4 177109287 177109287 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144644.2 -1 provisional p.R263I 0.000 99 0% 130 29.2% 0 - possibly_damaging(0.852) tolerated(0.05) deleterious(0.673) NULL SPCS3 60559 genome.wustl.edu 37 4 177245363 177245363 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021928.3 +1 validated p.K83 1.000 126 0% 75 30.7% 50 44% - - - HMMPfam_SPC22 VEGFC 7424 genome.wustl.edu 37 4 177609037 177609037 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000280193 -1 known p.N250T 0.996 156 0% 163 19.6% 21 14.2% possibly_damaging(0.692) tolerated(0.08) deleterious(0.547) NULL AGA 175 genome.wustl.edu 37 4 178360778 178360778 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000027.3 -1 reviewed p.R116W 0.930 254 0% 326 30.4% 32 40.6% probably_damaging(0.994) tolerated(0.07) deleterious(0.771) HMMPfam_Asparaginase_2,superfamily_N-terminal nucleophile aminohydrolases (Ntn hydrolases) ODZ3 55714 genome.wustl.edu 37 4 183594306 183594306 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080477.1 +1 provisional p.I420 1.000 162 0% 121 24% 1 0% - - - NULL ODZ3 55714 genome.wustl.edu 37 4 183658067 183658067 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080477.1 +1 provisional p.S1025Y 0.995 225 0% 167 31.7% 1 0% possibly_damaging(0.773) deleterious(0.03) deleterious(0.652) superfamily_ConA_like_lec_gl ODZ3 55714 genome.wustl.edu 37 4 183674628 183674628 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080477.1 +1 provisional p.L1296 0.986 180 0% 300 32% 2 50% - - - superfamily_ConA_like_lec_gl,superfamily_SSF101898 ODZ3 55714 genome.wustl.edu 37 4 183676319 183676319 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080477.1 +1 provisional p.A1600V 1.000 172 0% 284 35.6% 1 0% possibly_damaging(0.807) deleterious(0.03) deleterious(0.668) superfamily_ConA_like_lec_gl,superfamily_SSF63829 ODZ3 55714 genome.wustl.edu 37 4 183714654 183714654 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080477.1 +1 provisional p.L2277I 1.000 116 0% 186 33.3% 1 0% possibly_damaging(0.943) tolerated(0.32) neutral(0.412) NULL ODZ3 55714 genome.wustl.edu 37 4 183714752 183714752 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080477.1 +1 provisional p.N2309 0.987 232 0% 211 33.6% 4 50% - - - NULL LOC100128823 100128823 genome.wustl.edu 37 4 184019201 184019201 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_001719637.1 +1 model p.G119V 0.008 43 0% 62 37.1% 0 - - - - NULL WWC2 80014 genome.wustl.edu 37 4 184166691 184166691 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024949.5 +1 validated p.L242R 1.000 83 0% 82 23.2% 5 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL WWC2 80014 genome.wustl.edu 37 4 184204003 184204003 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024949.5 +1 validated p.E943* 0.017 140 0% 199 24.6% 4 0% - - - NULL CLDN22 53842 genome.wustl.edu 37 4 184240944 184240944 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001111319.1 -1 provisional p.K143T 0.000 108 0% 153 27.5% 2 50% benign(0) tolerated(0.6) neutral(0.004) HMMPfam_PMP22_Claudin TRAPPC11 60684 genome.wustl.edu 37 4 184612498 184612498 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021942.4 +1 validated p.E641D 0.998 112 0% 218 36.7% 8 37.5% benign(0) tolerated(0.8) neutral(0.001) NULL TRAPPC11 60684 genome.wustl.edu 37 4 184615864 184615864 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021942.4 +1 validated p.C872 1.000 102 0% 126 27.8% 4 0% - - - NULL STOX2 56977 genome.wustl.edu 37 4 184930727 184930727 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020225.1 +1 provisional p.F246V 1.000 56 0% 97 30.9% 0 - possibly_damaging(0.767) tolerated(0.12) deleterious(0.545) NULL STOX2 56977 genome.wustl.edu 37 4 184930805 184930805 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020225.1 +1 provisional p.R272W 1.000 31 0% 41 26.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL CASP3 836 genome.wustl.edu 37 4 185553081 185553081 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004346.3 -1 reviewed p.D107 1.000 162 0% 179 29.1% 14 42.8% - - - HMMPfam_Peptidase_C14,HMMSmart_SM00115,superfamily_Caspase-like HELT 391723 genome.wustl.edu 37 4 185941435 185941435 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001029887.1 +1 provisional p.L165I 0.636 30 0% 31 29% 0 - possibly_damaging(0.827) tolerated(0.08) deleterious(0.614) superfamily_HLH helix-loop-helix DNA-binding domain KIAA1430 57587 genome.wustl.edu 37 4 186085308 186085308 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020827.1 -1 validated p.V449A 1.000 178 0% 307 35.8% 6 16.6% possibly_damaging(0.933) tolerated(0.08) deleterious(0.679) NULL KIAA1430 57587 genome.wustl.edu 37 4 186112303 186112303 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020827.1 -1 validated p.F16L 1.000 94 0% 122 23.8% 0 - probably_damaging(0.987) deleterious(0) deleterious(0.881) NULL SNX25 83891 genome.wustl.edu 37 4 186244739 186244739 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031953.2 +1 validated p.E348* 1.000 65 0% 90 25.6% 0 - - - - HMMPfam_RGS,HMMSmart_RGS,superfamily_Regulat_G_prot_signal_superfam SNX25 83891 genome.wustl.edu 37 4 186284587 186284587 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031953.2 +1 validated p.H831N 0.958 237 0% 254 38.6% 14 71.4% benign(0.002) tolerated(0.07) neutral(0.319) NULL LRP2BP 55805 genome.wustl.edu 37 4 186298121 186298121 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018409.3 -1 validated p.R53I 0.914 217 0% 341 34.9% 2 0% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL C4orf47 441054 genome.wustl.edu 37 4 186353356 186353356 + Splice_Site SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001114357.1 +1 predicted e2+1 1.000 72 0% 134 41% 0 - - - - - CCDC110 256309 genome.wustl.edu 37 4 186381384 186381384 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152775.3 -1 validated p.E119D 0.722 64 0% 79 35.4% 0 - benign(0.268) deleterious(0.04) neutral(0.378) NULL PDLIM3 27295 genome.wustl.edu 37 4 186427697 186427697 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014476.3 -1 reviewed p.G258* 1.000 107 0% 62 29% 24 0% - - - NULL SORBS2 8470 genome.wustl.edu 37 4 186559309 186559309 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003603.5 -1 reviewed p.R277H 1.000 216 0% 264 30.3% 1 100% unknown(0) tolerated(0.16) - NULL TLR3 7098 genome.wustl.edu 37 4 187003777 187003777 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003265.2 +1 reviewed p.L313V 0.015 131 0% 158 36.1% 0 - benign(0.005) tolerated(0.59) neutral(0.004) superfamily_SSF52058 F11 2160 genome.wustl.edu 37 4 187196992 187196992 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000128.3 +1 reviewed p.T179 0.000 146 0% 249 31.3% 0 - - - - HMMSmart_SM00223,PatternScan_APPLE,HMMPfam_PAN_1 F11 2160 genome.wustl.edu 37 4 187197534 187197534 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000128.3 +1 reviewed p.E249* 0.004 219 0% 269 31.2% 0 - - - - HMMSmart_SM00223,PatternScan_APPLE,HMMPfam_PAN_1 FAT1 2195 genome.wustl.edu 37 4 187525049 187525049 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005245.3 -1 reviewed p.A3544V 1.000 132 0% 247 34.8% 16 31.2% probably_damaging(0.96) tolerated(1) neutral(0.403) superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT1 2195 genome.wustl.edu 37 4 187534368 187534368 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005245.3 -1 reviewed p.D3120N 1.000 174 0% 184 35.3% 11 63.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT1 2195 genome.wustl.edu 37 4 187539012 187539012 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005245.3 -1 reviewed p.D2910N 0.998 181 0% 257 31.5% 21 57.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT1 2195 genome.wustl.edu 37 4 187584578 187584578 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005245.3 -1 reviewed p.S1152Y 1.000 225 0% 290 32.1% 7 42.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT1 2195 genome.wustl.edu 37 4 187584730 187584730 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005245.3 -1 reviewed p.S1101 0.001 95 0% 118 39% 6 66.6% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like ZFP42 132625 genome.wustl.edu 37 4 188924891 188924891 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_174900.3 +1 validated p.K310 0.000 48 0% 114 41.2% 0 - - - - NULL FRG1 2483 genome.wustl.edu 37 4 190876206 190876206 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004477.2 +1 reviewed p.S111Y 1.000 153 0% 151 35.1% 53 43.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Actin-crosslinking proteins,HMMPfam_FRG1 TUBB7P 56604 genome.wustl.edu 37 4 190904370 190904370 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020040.3 -1 validated p.E205K 1.000 80 0% 127 33.1% 0 - - - - HMMPfam_Tubulin,superfamily_Tubulin nucleotide-binding domain-like PLEKHG4B 153478 genome.wustl.edu 37 5 151676 151676 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_052909.3 +1 validated p.E296* 1.000 163 0% 184 36.4% 1 0% - - - NULL PLEKHG4B 153478 genome.wustl.edu 37 5 163445 163445 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_052909.3 +1 validated p.F730 0.354 53 0% 67 23.9% 0 - - - - NULL SLC9A3 6550 genome.wustl.edu 37 5 485320 485320 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004174.2 -1 validated p.F234 0.950 188 0% 317 32.2% 0 - - - - HMMPfam_Na_H_Exchanger CEP72 55722 genome.wustl.edu 37 5 634012 634012 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018140.3 +1 reviewed p.S214N 0.070 33 0% 34 32.4% 5 60% benign(0.002) tolerated(1) - NULL ZDHHC11 79844 genome.wustl.edu 37 5 825289 825289 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024786.2 -1 validated p.S338L 0.001 207 0% 386 36% 1 0% benign(0) deleterious(0) neutral(0.445) NULL ZDHHC11 79844 genome.wustl.edu 37 5 837517 837517 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024786.2 -1 validated p.K288T 0.000 476 0% 957 18.8% 0 - possibly_damaging(0.448) tolerated(0.2) neutral(0.196) NULL ZDHHC11 79844 genome.wustl.edu 37 5 848659 848659 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024786.2 -1 validated p.F113 0.994 266 0% 433 15.5% 0 - - - - NULL BRD9 65980 genome.wustl.edu 37 5 878568 878568 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_023924.4 -1 validated p.S295 0.050 72 0% 114 27.2% 25 28% - - - NULL SLC6A18 348932 genome.wustl.edu 37 5 1225708 1225708 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182632.2 +1 validated p.G39E 1.000 95 0% 95 38.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SNF SLC6A18 348932 genome.wustl.edu 37 5 1240715 1240715 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182632.2 +1 validated p.I305 0.002 119 0% 203 31% 0 - - - - HMMPfam_SNF CLPTM1L 81037 genome.wustl.edu 37 5 1331933 1331933 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030782.3 -1 provisional p.I319 0.984 128 0% 220 32.7% 97 44.3% - - - HMMPfam_CLPTM1 SLC6A3 6531 genome.wustl.edu 37 5 1441558 1441558 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001044.4 -1 reviewed p.P112S 1.000 39 0% 61 37.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SNF LPCAT1 79888 genome.wustl.edu 37 5 1479739 1479739 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024830.3 -1 validated p.I271 0.776 129 0% 241 34.9% 46 39.1% - - - superfamily_SSF69593 LPCAT1 79888 genome.wustl.edu 37 5 1489945 1489945 + Missense_Mutation SNP G G A rs189595979 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000475622 -1 known p.R170C 1.000 148 0% 228 36% 17 35.2% - - - NULL LPCAT1 79888 genome.wustl.edu 37 5 1494891 1494891 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000475622 -1 known p.R135* 0.963 69 0% 92 70.7% 10 50% - - - NULL C5orf38 153571 genome.wustl.edu 37 5 2755159 2755159 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000397835 +1 known p.R117Q 0.000 122 0% 125 35.2% 0 - unknown(0) - - NULL IRX1 79192 genome.wustl.edu 37 5 3600767 3600767 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024337.3 +1 validated p.K453Q 1.000 42 0% 44 25% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL ADAMTS16 170690 genome.wustl.edu 37 5 5146469 5146469 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_139056.2 +1 reviewed p.K134N 0.000 66 0% 62 35.5% 0 - benign(0.02) tolerated(0.48) neutral(0.011) HMMPfam_Pep_M12B_propep KIAA0947 23379 genome.wustl.edu 37 5 5441275 5441275 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015325.1 +1 validated p.S83Y 1.000 87 0% 91 35.2% 1 0% probably_damaging(0.991) deleterious(0.01) deleterious(0.850) NULL KIAA0947 23379 genome.wustl.edu 37 5 5462192 5462192 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015325.1 +1 validated p.I915 0.000 61 0% 111 36% 0 - - - - NULL KIAA0947 23379 genome.wustl.edu 37 5 5462913 5462913 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015325.1 +1 validated p.L1156M 0.250 234 0% 252 35.3% 4 100% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL KIAA0947 23379 genome.wustl.edu 37 5 5465163 5465163 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015325.1 +1 validated p.E1906* 0.357 217 0% 358 34.1% 7 14.2% - - - NULL ADCY2 108 genome.wustl.edu 37 5 7804718 7804718 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020546.2 +1 reviewed p.F932L 1.000 96 0% 117 24.8% 2 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Guanylate_cyc,HMMSmart_CYCc,superfamily_A/G_cyclase MTRR 4552 genome.wustl.edu 37 5 7885944 7885944 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024010.2 +1 reviewed p.I372R 0.096 137 0% 123 33.3% 2 0% possibly_damaging(0.654) deleterious(0) deleterious(0.674) HMMPfam_FAD_binding_1,superfamily_Riboflavin synthase domain-like MTRR 4552 genome.wustl.edu 37 5 7900144 7900144 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024010.2 +1 reviewed p.K717 0.318 107 0% 98 24.5% 6 33.3% - - - superfamily_Ferredoxin reductase-like C-terminal NADP-linked domain TAS2R1 50834 genome.wustl.edu 37 5 9629749 9629749 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019599.2 -1 reviewed p.G132 0.000 64 0% 60 35% 0 - - - - HMMPfam_TAS2R,superfamily_SSF81321 ANKRD33B 651746 genome.wustl.edu 37 5 10564741 10564741 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000296657 +1 known p.S54 1.000 26 0% 36 38.9% 0 - - - - superfamily_ANK DNAH5 1767 genome.wustl.edu 37 5 13762932 13762932 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001369.2 -1 reviewed p.E3394K 1.000 110 0% 150 28% 0 - probably_damaging(0.953) deleterious(0.01) deleterious(0.802) NULL DNAH5 1767 genome.wustl.edu 37 5 13762974 13762974 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001369.2 -1 reviewed p.E3380* 1.000 82 0% 110 34.5% 0 - - - - NULL DNAH5 1767 genome.wustl.edu 37 5 13811757 13811757 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001369.2 -1 reviewed p.K2469T 1.000 112 0% 142 32.4% 0 - benign(0.003) tolerated(0.31) neutral(0.027) NULL DNAH5 1767 genome.wustl.edu 37 5 13811890 13811890 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001369.2 -1 reviewed p.R2425C 1.000 77 0% 136 36% 0 - probably_damaging(0.982) deleterious(0.03) deleterious(0.791) NULL DNAH5 1767 genome.wustl.edu 37 5 13885212 13885212 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001369.2 -1 reviewed p.E957K 0.997 206 0% 224 31.2% 0 - benign(0.001) tolerated(0.18) neutral(0.056) NULL DNAH5 1767 genome.wustl.edu 37 5 13913992 13913992 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001369.2 -1 reviewed p.E466K 1.000 294 0% 245 30.6% 0 - probably_damaging(0.989) deleterious(0.01) deleterious(0.845) HMMPfam_DHC_N1 TRIO 7204 genome.wustl.edu 37 5 14401161 14401161 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007118.2 +1 validated p.K1568N 1.000 156 0% 216 36.6% 8 37.5% unknown(0) deleterious(0.01) - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like TRIO 7204 genome.wustl.edu 37 5 14482807 14482807 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007118.2 +1 validated p.I2194 0.446 120 0.8% 212 28.8% 10 20% - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like FAM105A 54491 genome.wustl.edu 37 5 14607518 14607518 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019018.2 +1 validated p.S193L 0.988 359 0% 580 30.7% 2 0% possibly_damaging(0.731) tolerated(0.18) neutral(0.323) NULL FAM105A 54491 genome.wustl.edu 37 5 14609098 14609098 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019018.2 +1 validated p.S290Y 0.294 99 0% 166 31.3% 3 33.3% possibly_damaging(0.839) tolerated(0.14) deleterious(0.570) NULL ANKH 56172 genome.wustl.edu 37 5 14745985 14745985 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_054027.4 -1 reviewed p.F303 0.999 99 0% 136 40.4% 45 0% - - - HMMPfam_ANKH LOC402198 402198 genome.wustl.edu 37 5 14961158 14961158 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_001716525.1 +1 model p.D337Y 1.000 28 0% 46 30.4% 0 - - - - HMMPfam_AIRS_C,superfamily_PurM C-terminal domain-like ZNF622 90441 genome.wustl.edu 37 5 16453219 16453219 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033414.2 -1 provisional p.R403 0.344 115 0% 109 31.2% 52 38.4% - - - NULL MYO10 4651 genome.wustl.edu 37 5 16672814 16672814 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012334.2 -1 validated p.L1765V 0.187 178 0% 304 33.9% 20 60% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMSmart_B41 MYO10 4651 genome.wustl.edu 37 5 16701875 16701875 + Nonsense_Mutation SNP C C A rs192068413 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012334.2 -1 validated p.E877* 0.370 74 0% 120 31.7% 5 20% - - - NULL CDH18 1016 genome.wustl.edu 37 5 19503156 19503156 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004934.3 -1 reviewed p.F525L 1.000 199 0% 243 30.5% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin CDH18 1016 genome.wustl.edu 37 5 19520835 19520835 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004934.3 -1 reviewed p.V481 1.000 245 0% 232 34.5% 0 - - - - HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin CDH18 1016 genome.wustl.edu 37 5 19591169 19591169 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004934.3 -1 reviewed p.K332N 0.994 105 0% 127 33.9% 0 - possibly_damaging(0.908) deleterious(0.04) deleterious(0.710) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin CDH12 1010 genome.wustl.edu 37 5 21975261 21975261 + Missense_Mutation SNP A A T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004061.3 -1 reviewed p.D155E 1.000 236 0% 212 27.4% 3 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin PRDM9 56979 genome.wustl.edu 37 5 23526481 23526481 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020227.2 +1 provisional p.E428D 0.000 251 0% 373 34.6% 0 - benign(0.105) tolerated(0.22) neutral(0.050) NULL PRDM9 56979 genome.wustl.edu 37 5 23526883 23526883 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020227.2 +1 provisional p.S562R 0.000 158 0.6% 181 35.9% 0 - benign(0.177) tolerated(0.17) neutral(0.075) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 PRDM9 56979 genome.wustl.edu 37 5 23527713 23527713 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020227.2 +1 provisional p.R839Q 0.461 159 0% 174 28.2% 0 - unknown(0) tolerated(0.09) - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 CDH10 1008 genome.wustl.edu 37 5 24488074 24488074 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006727.2 -1 reviewed p.D689Y 1.000 133 0% 82 29.3% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin_C CDH10 1008 genome.wustl.edu 37 5 24488112 24488112 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006727.2 -1 reviewed p.R676M 1.000 133 0% 68 30.9% 2 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin_C CDH9 1007 genome.wustl.edu 37 5 26885801 26885801 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016279.3 -1 reviewed p.A602T 0.846 95 1.1% 67 28.4% 0 - benign(0.003) tolerated(0.27) neutral(0.034) NULL CDH9 1007 genome.wustl.edu 37 5 26903886 26903886 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016279.3 -1 reviewed p.L287I 0.937 251 0% 204 35.8% 0 - benign(0.002) tolerated(0.56) neutral(0.006) HMMPfam_Cadherin,superfamily_Cadherin CDH9 1007 genome.wustl.edu 37 5 26915896 26915896 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016279.3 -1 reviewed p.S122Y 1.000 238 0% 170 31.8% 0 - possibly_damaging(0.946) deleterious(0) deleterious(0.835) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin LOC729862 729862 genome.wustl.edu 37 5 28927042 28927042 + RNA SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XR_040872.2 +1 model NULL 0.929 43 0% 80 37.5% 0 - - - - - LOC729862 729862 genome.wustl.edu 37 5 28927189 28927189 + RNA SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XR_040872.2 +1 model NULL 1.000 191 0% 288 36.1% 0 - - - - - CDH6 1004 genome.wustl.edu 37 5 31316412 31316412 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004932.2 +1 reviewed p.V496 0.978 122 0% 138 42.8% 1 0% - - - HMMPfam_Cadherin,superfamily_Cadherin-like DROSHA 29102 genome.wustl.edu 37 5 31515591 31515591 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013235.4 -1 validated p.S343Y 1.000 60 0% 76 35.5% 2 0% probably_damaging(0.981) deleterious(0.01) deleterious(0.831) NULL DROSHA 29102 genome.wustl.edu 37 5 31521294 31521294 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013235.4 -1 validated p.R295* 1.000 276 0% 339 31% 6 33.3% - - - NULL PDZD2 23037 genome.wustl.edu 37 5 31799559 31799559 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178140.2 +1 reviewed p.I68 1.000 117 0% 164 34.8% 0 - - - - superfamily_PDZ domain-like PDZD2 23037 genome.wustl.edu 37 5 32087470 32087470 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178140.2 +1 reviewed p.R1306* 0.000 36 0% 96 20.8% 0 - - - - NULL PDZD2 23037 genome.wustl.edu 37 5 32088588 32088588 + Silent SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178140.2 +1 reviewed p.T1678 0.000 55 0% 124 37.1% 1 0% - - - NULL MTMR12 54545 genome.wustl.edu 37 5 32230347 32230347 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001040446.1 -1 reviewed p.R594I 1.000 109 0% 146 32.9% 8 50% probably_damaging(1) deleterious(0.03) deleterious(0.865) superfamily_(Phosphotyrosine protein) phosphatases II MTMR12 54545 genome.wustl.edu 37 5 32233892 32233892 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001040446.1 -1 reviewed p.G554V 0.973 217 0.5% 466 35.2% 8 37.5% benign(0.15) tolerated(0.09) neutral(0.309) superfamily_(Phosphotyrosine protein) phosphatases II ZFR 51663 genome.wustl.edu 37 5 32379252 32379252 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016107.3 -1 validated p.R935Q 1.000 63 0% 115 40.9% 32 46.8% probably_damaging(0.994) deleterious(0.01) deleterious(0.858) HMMPfam_DZF,HMMSmart_DZF NPR3 4883 genome.wustl.edu 37 5 32789659 32789659 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024563.3 +1 predicted p.R51I 0.000 145 0.7% 151 27.8% 0 - possibly_damaging(0.951) - - NULL ADAMTS12 81792 genome.wustl.edu 37 5 33751444 33751444 + Nonstop_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000515401 -1 known p.*233Y 0.001 106 0% 87 29.9% 0 - - - - NULL ADAMTS12 81792 genome.wustl.edu 37 5 33881515 33881515 + Missense_Mutation SNP A A T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030955.2 -1 reviewed p.F66L 0.856 133 0% 159 32.7% 1 0% benign(0.243) tolerated(0.13) neutral(0.277) HMMPfam_Pep_M12B_propep RXFP3 51289 genome.wustl.edu 37 5 33938077 33938077 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016568.3 +1 validated p.S411L 0.996 21 0% 14 35.7% 0 - benign(0.428) deleterious(0.02) deleterious(0.522) superfamily_SSF81321 RAD1 5810 genome.wustl.edu 37 5 34908989 34908989 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002853.3 -1 reviewed p.R244W 1.000 105 0% 117 33.3% 27 55.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Rad1,superfamily_DNA clamp RAD1 5810 genome.wustl.edu 37 5 34914879 34914879 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002853.3 -1 reviewed p.A40V 1.000 175 0% 335 29.3% 31 41.9% probably_damaging(0.997) deleterious(0) deleterious(0.911) superfamily_DNA clamp DNAJC21 134218 genome.wustl.edu 37 5 34937525 34937525 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_194283.3 +1 validated p.R178H 1.000 106 0% 161 33.5% 15 86.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL DNAJC21 134218 genome.wustl.edu 37 5 34945105 34945105 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_194283.3 +1 validated p.E373* 1.000 93 0% 159 30.2% 11 27.2% - - - NULL PRLR 5618 genome.wustl.edu 37 5 35068366 35068366 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000949.4 -1 validated p.P269 0.977 262 0% 343 35.3% 0 - - - - NULL SPEF2 79925 genome.wustl.edu 37 5 35740060 35740060 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024867.3 +1 validated p.E1035* 1.000 104 0% 130 23.1% 0 - - - - NULL SPEF2 79925 genome.wustl.edu 37 5 35771836 35771836 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024867.3 +1 validated p.K1309 0.719 104 0% 89 39.3% 0 - - - - NULL CAPSL 133690 genome.wustl.edu 37 5 35910638 35910638 + Silent SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001042625.1 -1 validated p.R49 1.000 163 0% 127 37% 10 40% - - - HMMSmart_SM00054,superfamily_EF-hand UGT3A1 133688 genome.wustl.edu 37 5 35991231 35991231 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000515801 -1 known p.E38* 0.003 151 0% 165 32.1% 0 - - - - NULL LMBRD2 92255 genome.wustl.edu 37 5 36114613 36114613 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001007527.1 -1 validated p.S518F 1.000 103 0% 69 36.2% 1 0% possibly_damaging(0.948) deleterious(0) deleterious(0.836) HMMPfam_LMBR1 SLC1A3 6507 genome.wustl.edu 37 5 36679902 36679902 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004172.4 +1 reviewed p.P345H 1.000 174 0% 246 24.4% 4 25% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_SDF NIPBL 25836 genome.wustl.edu 37 5 36955621 36955621 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_133433.3 +1 reviewed p.K38Q 1.000 248 0% 368 31.2% 5 40% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL NIPBL 25836 genome.wustl.edu 37 5 37000610 37000610 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_133433.3 +1 reviewed p.R1147Q 1.000 196 0% 177 32.8% 3 33.3% possibly_damaging(0.914) deleterious(0.03) deleterious(0.730) superfamily_ARM repeat NIPBL 25836 genome.wustl.edu 37 5 37017256 37017256 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_133433.3 +1 reviewed p.L1638 1.000 94 0% 124 40.3% 6 16.6% - - - superfamily_ARM repeat NIPBL 25836 genome.wustl.edu 37 5 37017261 37017261 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_133433.3 +1 reviewed p.K1639 1.000 99 0% 122 30.3% 6 83.3% - - - superfamily_ARM repeat NIPBL 25836 genome.wustl.edu 37 5 37046234 37046234 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_133433.3 +1 reviewed p.L2174 1.000 140 0% 198 30.8% 6 50% - - - superfamily_ARM repeat C5orf42 65250 genome.wustl.edu 37 5 37148344 37148344 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_023073.3 -1 predicted p.F1644L 0.248 329 0% 432 35.2% 1 100% benign(0) tolerated(1) - NULL C5orf42 65250 genome.wustl.edu 37 5 37169033 37169033 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_023073.3 -1 predicted p.P1245T 0.898 281 0% 530 34.7% 1 0% benign(0.026) tolerated(0.31) neutral(0.028) NULL C5orf42 65250 genome.wustl.edu 37 5 37173939 37173939 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_023073.3 -1 predicted p.R910I 0.000 312 0% 534 30.5% 0 - possibly_damaging(0.836) tolerated(0.08) deleterious(0.619) NULL C5orf42 65250 genome.wustl.edu 37 5 37181007 37181007 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_023073.3 -1 predicted p.G722E 0.000 103 0% 126 30.2% 1 100% probably_damaging(0.989) deleterious(0) deleterious(0.884) NULL C5orf42 65250 genome.wustl.edu 37 5 37183288 37183288 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_023073.3 -1 predicted p.S546 0.000 153 0% 239 35.1% 1 0% - - - NULL C5orf42 65250 genome.wustl.edu 37 5 37231003 37231003 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000508244 -1 known p.E363* 1.000 124 0% 232 27.2% 0 - - - - NULL C5orf42 65250 genome.wustl.edu 37 5 37243146 37243146 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000508244 -1 known p.R216W 1.000 73 0% 138 31.9% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL WDR70 55100 genome.wustl.edu 37 5 37605199 37605199 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018034.2 +1 provisional p.K317N 1.000 117 0% 144 31.2% 15 33.3% probably_damaging(0.996) deleterious(0.03) deleterious(0.826) superfamily_WD40_like EGFLAM 133584 genome.wustl.edu 37 5 38407018 38407018 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152403.2 +1 validated p.S306Y 0.110 304 0% 414 28.5% 2 0% benign(0) tolerated(0.26) neutral(0.034) NULL EGFLAM 133584 genome.wustl.edu 37 5 38431286 38431286 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152403.2 +1 validated p.D688Y 1.000 171 0.6% 295 31.2% 9 0% possibly_damaging(0.474) tolerated(0.22) neutral(0.199) HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 LIFR 3977 genome.wustl.edu 37 5 38489288 38489288 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001127671.1 -1 reviewed p.K743Q 1.000 173 0% 202 22.3% 0 - probably_damaging(1) tolerated(0.16) deleterious(0.559) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III LIFR 3977 genome.wustl.edu 37 5 38527391 38527391 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001127671.1 -1 reviewed p.R88H 0.000 148 0% 71 26.8% 0 - benign(0) tolerated(1) - HMMSmart_SM00060,superfamily_Fibronectin type III OSMR 9180 genome.wustl.edu 37 5 38923338 38923338 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003999.2 +1 reviewed p.G618R 1.000 198 0% 175 30.3% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL OSMR 9180 genome.wustl.edu 37 5 38933298 38933298 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003999.2 +1 reviewed p.E898* 0.002 68 0% 72 33.3% 4 0% - - - NULL OSMR 9180 genome.wustl.edu 37 5 38933426 38933426 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003999.2 +1 reviewed p.P940 0.000 129 0% 117 19.7% 4 0% - - - NULL RICTOR 253260 genome.wustl.edu 37 5 38950183 38950183 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152756.3 -1 validated p.S1256I 1.000 175 0% 57 33.3% 0 - possibly_damaging(0.929) deleterious(0) deleterious(0.821) superfamily_ARM repeat RICTOR 253260 genome.wustl.edu 37 5 38950648 38950648 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152756.3 -1 validated p.S1101L 1.000 292 0% 184 34.2% 1 100% probably_damaging(0.978) deleterious(0) deleterious(0.865) superfamily_ARM repeat RICTOR 253260 genome.wustl.edu 37 5 38975689 38975689 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152756.3 -1 validated p.R280Q 1.000 210 0% 214 30.4% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) superfamily_ARM repeat RICTOR 253260 genome.wustl.edu 37 5 38982001 38982001 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152756.3 -1 validated p.R241* 1.000 122 0% 141 34% 0 - - - - superfamily_ARM repeat C9 735 genome.wustl.edu 37 5 39311458 39311458 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001737.3 -1 reviewed p.K298E 1.000 240 0.4% 166 33.1% 0 - probably_damaging(0.989) tolerated(0.09) deleterious(0.736) HMMPfam_MACPF,HMMSmart_MACPF C9 735 genome.wustl.edu 37 5 39316028 39316028 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001737.3 -1 reviewed p.S240Y 0.007 293 0% 233 27.9% 0 - possibly_damaging(0.885) deleterious(0.01) deleterious(0.752) NULL DAB2 1601 genome.wustl.edu 37 5 39394413 39394413 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001343.2 -1 validated p.E4* 1.000 299 0% 374 34.5% 1 0% - - - NULL LOC100127944 100127944 genome.wustl.edu 37 5 40681473 40681473 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_001717341.2 -1 model p.E235K 1.000 26 0% 37 48.6% 1 0% - - - NULL TTC33 23548 genome.wustl.edu 37 5 40746976 40746976 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012382.2 -1 validated p.E49* 1.000 136 0% 189 34.9% 4 50% - - - NULL PRKAA1 5562 genome.wustl.edu 37 5 40762927 40762927 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_206907.3 -1 reviewed p.E560* 1.000 87 0% 159 27% 4 0% - - - NULL CARD6 84674 genome.wustl.edu 37 5 40852302 40852302 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032587.3 +1 reviewed p.L290M 1.000 121 0% 139 27.3% 0 - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL CARD6 84674 genome.wustl.edu 37 5 40852688 40852688 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032587.3 +1 reviewed p.I418 0.055 77 0% 129 35.7% 0 - - - - NULL C7 730 genome.wustl.edu 37 5 40947712 40947712 + Missense_Mutation SNP A A T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000587.2 +1 reviewed p.Q249H 0.001 154 0% 132 33.3% 0 - benign(0) tolerated(0.4) neutral(0.016) HMMPfam_MACPF,HMMSmart_MACPF C7 730 genome.wustl.edu 37 5 40958215 40958215 + Missense_Mutation SNP G G T rs150696042 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000587.2 +1 reviewed p.E447D 1.000 286 0% 387 31% 0 - probably_damaging(0.998) tolerated(0.1) deleterious(0.761) HMMPfam_MACPF,HMMSmart_MACPF HEATR7B2 133558 genome.wustl.edu 37 5 41005639 41005639 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173489.4 -1 validated p.F1286L 1.000 143 0% 136 37.5% 0 - possibly_damaging(0.94) tolerated(1) neutral(0.385) superfamily_ARM repeat HEATR7B2 133558 genome.wustl.edu 37 5 41010071 41010071 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173489.4 -1 validated p.M1082I 0.969 221 0% 327 33.9% 0 - benign(0.431) tolerated(0.32) neutral(0.165) superfamily_ARM repeat HEATR7B2 133558 genome.wustl.edu 37 5 41018885 41018885 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173489.4 -1 validated p.L861I 1.000 248 0% 284 28.5% 0 - probably_damaging(0.993) deleterious(0) deleterious(0.895) superfamily_ARM repeat HEATR7B2 133558 genome.wustl.edu 37 5 41058294 41058294 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173489.4 -1 validated p.I209 0.004 132 0% 123 35% 0 - - - - NULL HEATR7B2 133558 genome.wustl.edu 37 5 41065549 41065549 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173489.4 -1 validated p.S82F 1.000 142 0% 147 31.3% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL C6 729 genome.wustl.edu 37 5 41142995 41142995 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000065.2 -1 reviewed p.E913* 0.830 395 0% 252 28.6% 1 0% - - - HMMSmart_FIMAC C6 729 genome.wustl.edu 37 5 41160420 41160420 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000065.2 -1 reviewed p.K503T 0.984 275 0% 217 31.8% 0 - probably_damaging(0.981) deleterious(0.01) deleterious(0.831) HMMPfam_MACPF,HMMSmart_MACPF OXCT1 5019 genome.wustl.edu 37 5 41807445 41807445 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000436.3 -1 reviewed p.E276D 0.994 324 0% 162 22.8% 13 23% benign(0.023) tolerated(0.07) neutral(0.320) superfamily_SSF100950 GHR 2690 genome.wustl.edu 37 5 42695060 42695060 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000163.2 +1 reviewed p.D103G 1.000 357 0% 422 32.5% 0 - probably_damaging(0.959) deleterious(0) deleterious(0.847) superfamily_Fibronectin type III GHR 2690 genome.wustl.edu 37 5 42719346 42719346 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000163.2 +1 reviewed p.P579 0.187 185 0% 320 35.9% 0 - - - - NULL ZNF131 7690 genome.wustl.edu 37 5 43161997 43161997 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003432.1 +1 validated p.F306V 1.000 24 0% 65 43.1% 9 55.5% possibly_damaging(0.915) tolerated(0.51) neutral(0.376) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 FGF10 2255 genome.wustl.edu 37 5 44388500 44388500 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004465.1 -1 reviewed p.N95 0.997 279 0% 337 34.4% 1 0% - - - HMMPfam_FGF,HMMSmart_FGF,superfamily_Cytok_IL1_like HCN1 348980 genome.wustl.edu 37 5 45645349 45645349 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021072.2 -1 validated p.L263I 1.000 94 0% 56 44.6% 0 - possibly_damaging(0.837) deleterious(0.01) deleterious(0.725) HMMPfam_Ion_trans,superfamily_SSF81324 EMB 133418 genome.wustl.edu 37 5 49706739 49706739 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198449.2 -1 reviewed p.K148N 0.758 100 0% 53 32.1% 2 0% possibly_damaging(0.824) tolerated(0.44) neutral(0.325) HMMSmart_SM00409,superfamily_Immunoglobulin PARP8 79668 genome.wustl.edu 37 5 50074425 50074425 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024615.3 +1 validated p.R204Q 1.000 132 0% 100 31% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL ISL1 3670 genome.wustl.edu 37 5 50680390 50680390 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002202.2 +1 reviewed p.S15Y 1.000 134 0% 253 32.4% 0 - probably_damaging(0.957) deleterious(0) deleterious(0.845) superfamily_Glucocorticoid receptor-like (DNA-binding domain) ITGA2 3673 genome.wustl.edu 37 5 52367767 52367767 + Splice_Site SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002203.3 +1 reviewed e18-1 1.000 334 0% 169 29% 0 - - - - - FST 10468 genome.wustl.edu 37 5 52778849 52778849 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013409.1 +1 reviewed p.L75 0.992 102 0% 126 37.3% 1 0% - - - HMMPfam_PRKCSH NDUFS4 4724 genome.wustl.edu 37 5 52979044 52979044 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002495.2 +1 reviewed p.T174K 1.000 181 0% 127 27.6% 64 42.1% possibly_damaging(0.949) deleterious(0) deleterious(0.838) NULL SNX18 112574 genome.wustl.edu 37 5 53814535 53814535 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_052870.2 +1 reviewed p.F251 1.000 41 0% 61 27.9% 2 50% - - - NULL GZMK 3003 genome.wustl.edu 37 5 54327243 54327243 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002104.2 +1 reviewed p.S139A 0.000 126 0% 143 26.6% 7 0% benign(0) tolerated(0.48) neutral(0.011) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases CDC20B 166979 genome.wustl.edu 37 5 54424248 54424248 + Splice_Site SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152623.2 -1 validated e7+1 1.000 113 0% 130 30.8% 0 - - - - - SKIV2L2 23517 genome.wustl.edu 37 5 54640443 54640443 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015360.4 +1 validated p.E334* 1.000 157 0% 186 24.2% 6 0% - - - superfamily_SSF52540 DDX4 54514 genome.wustl.edu 37 5 55086415 55086415 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024415.2 +1 validated p.R395I 1.000 212 0% 227 26% 0 - probably_damaging(0.971) deleterious(0) deleterious(0.857) HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases DDX4 54514 genome.wustl.edu 37 5 55094264 55094264 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024415.2 +1 validated p.E494* 1.000 359 0% 505 35% 0 - - - - HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases IL31RA 133396 genome.wustl.edu 37 5 55164730 55164730 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_139017.4 +1 validated p.R89I 0.676 114 0% 146 32.9% 0 - possibly_damaging(0.901) tolerated(0.4) neutral(0.373) HMMSmart_FN3,superfamily_FN_III-like IL31RA 133396 genome.wustl.edu 37 5 55178995 55178995 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_139017.4 +1 validated p.R193L 0.302 130 0% 212 25.5% 0 - probably_damaging(0.963) deleterious(0) deleterious(0.850) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like IL6ST 3572 genome.wustl.edu 37 5 55259227 55259227 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002184.2 -1 reviewed p.K256Q 1.000 195 0% 260 36.5% 4 0% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III ANKRD55 79722 genome.wustl.edu 37 5 55479342 55479342 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024669.2 -1 validated p.E60* 1.000 96 0% 126 38.9% 0 - - - - HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK MAP3K1 4214 genome.wustl.edu 37 5 56167795 56167795 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005921.1 +1 validated p.E454* 1.000 195 0% 262 35.9% 4 0% - - - HMMSmart_RING,superfamily_SSF57850 GPBP1 65056 genome.wustl.edu 37 5 56546911 56546911 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001127235.2 +1 validated p.R388Q 0.976 125 0% 206 24.8% 80 46.2% benign(0.059) tolerated(0.29) neutral(0.033) NULL ACTBL2 345651 genome.wustl.edu 37 5 56777690 56777690 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001017992.2 -1 validated p.S282Y 0.994 123 0% 193 30.1% 0 - possibly_damaging(0.781) - - HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain GAPT 202309 genome.wustl.edu 37 5 57790546 57790546 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152687.2 +1 provisional p.F61L 0.001 95 0% 112 39.3% 0 - benign(0) tolerated(1) - NULL RAB3C 115827 genome.wustl.edu 37 5 58147070 58147070 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138453.2 +1 provisional p.C192 0.982 165 0% 140 30% 0 - - - - HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540 PDE4D 5144 genome.wustl.edu 37 5 58270599 58270599 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001104631.1 -1 validated p.E774 1.000 241 0% 137 41.6% 5 60% - - - NULL ELOVL7 79993 genome.wustl.edu 37 5 60063694 60063694 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001104558.1 -1 validated p.R98* 0.989 125 0% 206 35% 6 33.3% - - - HMMPfam_ELO C5orf43 643155 genome.wustl.edu 37 5 60455812 60455812 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001048249.3 -1 validated p.E63* 1.000 476 0.2% 854 27.5% 36 19.4% - - - NULL ZSWIM6 57688 genome.wustl.edu 37 5 60835465 60835465 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020928.1 +1 provisional p.K861T 1.000 224 0% 319 35.1% 15 53.3% benign(0.19) tolerated(0.21) neutral(0.062) NULL KIF2A 3796 genome.wustl.edu 37 5 61643985 61643985 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001098511.1 +1 validated p.K90N 1.000 99 0% 162 32.7% 10 30% possibly_damaging(0.946) tolerated(0.43) neutral(0.404) NULL KIF2A 3796 genome.wustl.edu 37 5 61677078 61677078 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001098511.1 +1 validated p.R716Q 1.000 158 0% 253 32% 28 57.1% possibly_damaging(0.62) tolerated(0.29) neutral(0.245) NULL DIMT1 27292 genome.wustl.edu 37 5 61686778 61686778 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014473.2 -1 validated p.K275T 1.000 280 0% 439 32.8% 18 27.7% benign(0.386) tolerated(0.45) neutral(0.136) HMMPfam_RrnaAD,superfamily_SSF53335 DIMT1 27292 genome.wustl.edu 37 5 61687823 61687823 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000506390 -1 known p.A268V 0.000 26 0.000 8 0.500 1 0% benign(0.146) tolerated(0.29) neutral(0.042) HMMPfam_RrnaAD IPO11 51194 genome.wustl.edu 37 5 61778972 61778972 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001134779.1 +1 validated p.L331 0.999 190 0% 225 36% 13 46.1% - - - superfamily_ARM repeat IPO11 51194 genome.wustl.edu 37 5 61811214 61811214 + Splice_Site SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001134779.1 +1 validated e20-1 1.000 181 0% 244 29.9% 0 - - - - - LRRC70 100130733 genome.wustl.edu 37 5 61875347 61875347 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_181506.4 +1 validated p.E28* 0.012 125 0% 113 34.5% 0 - - - - superfamily_SSF52058 HTR1A 3350 genome.wustl.edu 37 5 63256545 63256545 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000524.2 -1 validated p.K334N 1.000 96 0% 89 30.3% 0 - probably_damaging(0.986) deleterious(0) deleterious(0.879) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like HTR1A 3350 genome.wustl.edu 37 5 63256817 63256817 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000524.2 -1 validated p.A244T 0.000 36 0% 42 33.3% 0 - benign(0) tolerated(1) - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like RNF180 285671 genome.wustl.edu 37 5 63507919 63507919 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001113561.1 +1 validated p.N55H 0.039 153 0% 118 37.3% 1 0% possibly_damaging(0.648) deleterious(0.04) deleterious(0.577) NULL CENPK 64105 genome.wustl.edu 37 5 64850656 64850656 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022145.3 -1 validated p.E27K 0.999 466 0% 571 32.7% 9 55.5% benign(0.001) deleterious(0.03) neutral(0.364) NULL PPWD1 23398 genome.wustl.edu 37 5 64883145 64883145 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015342.2 +1 validated p.R621S 1.000 144 0% 145 24.1% 42 35.7% benign(0.228) tolerated(0.32) neutral(0.046) HMMPfam_Pro_isomerase,superfamily_CSA_PPIase ERBB2IP 55914 genome.wustl.edu 37 5 65307896 65307896 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018695.2 +1 reviewed p.E109D 1.000 105 0% 110 38.2% 1 0% possibly_damaging(0.796) tolerated(0.19) neutral(0.348) HMMPfam_LRR_1,superfamily_SSF52058 SREK1 140890 genome.wustl.edu 37 5 65465923 65465923 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001077199.1 +1 validated p.R349H 1.000 84 0% 104 38.5% 16 31.2% unknown(0) deleterious(0.02) - superfamily_SSF54928 MAST4 375449 genome.wustl.edu 37 5 66461336 66461336 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015183.2 +1 validated p.S1921Y 0.060 58 0% 50 36% 1 100% possibly_damaging(0.887) deleterious(0) deleterious(0.791) NULL ENSG00000248664 0 genome.wustl.edu 37 5 68411231 68411231 + Splice_Site SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000504129 -1 known NULL 1.000 183 0% 368 38.6% 22 45.4% - - - - CCNB1 891 genome.wustl.edu 37 5 68470862 68470862 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031966.2 +1 reviewed p.K288N 1.000 139 0% 284 33.8% 115 46.9% benign(0.261) tolerated(0.35) neutral(0.048) HMMSmart_CYCLIN,HMMPfam_Cyclin_N,superfamily_Cyclin_like MRPS36 92259 genome.wustl.edu 37 5 68513659 68513659 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033281.5 +1 validated p.M1I 1.000 88 0% 163 35% 29 44.8% benign(0.278) deleterious(0) deleterious(0.475) NULL CDK7 1022 genome.wustl.edu 37 5 68531277 68531277 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001799.3 +1 validated p.K41N 1.000 231 0% 513 34.5% 37 43.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_S_TKc,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase CDK7 1022 genome.wustl.edu 37 5 68551328 68551328 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001799.3 +1 validated p.V90 1.000 115 0% 179 33.5% 39 43.5% - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase CCDC125 202243 genome.wustl.edu 37 5 68581169 68581169 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_176816.3 -1 validated p.D409Y 1.000 95 0% 181 28.2% 8 37.5% - - - NULL TAF9 6880 genome.wustl.edu 37 5 68661297 68661297 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001015892.1 -1 validated p.D90Y 1.000 168 0% 265 38.1% 34 41.1% possibly_damaging(0.768) deleterious(0) deleterious(0.730) HMMPfam_TFIID-31kDa RAD17 5884 genome.wustl.edu 37 5 68680680 68680680 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_133339.1 +1 reviewed p.L200I 1.000 166 0% 314 27.7% 11 27.2% benign(0.385) deleterious(0.01) deleterious(0.528) HMMPfam_Rad17,superfamily_P-loop containing nucleoside triphosphate hydrolases RAD17 5884 genome.wustl.edu 37 5 68687709 68687709 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_133339.1 +1 reviewed p.A364D 0.208 53 0% 62 25.8% 11 45.4% benign(0.025) tolerated(0.1) neutral(0.287) HMMPfam_Rad17 RAD17 5884 genome.wustl.edu 37 5 68687829 68687829 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_133339.1 +1 reviewed p.L404R 0.996 41 0% 57 29.8% 6 16.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Rad17 RAD17 5884 genome.wustl.edu 37 5 68689268 68689268 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_133339.1 +1 reviewed p.D466Y 1.000 141 0% 239 35.1% 12 41.6% possibly_damaging(0.885) tolerated(0.48) neutral(0.356) HMMPfam_Rad17 BDP1 55814 genome.wustl.edu 37 5 70805954 70805954 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018429.2 +1 reviewed p.L1012S 0.969 64 0% 151 28.5% 0 - benign(0.018) tolerated(0.37) neutral(0.019) NULL BDP1 55814 genome.wustl.edu 37 5 70806542 70806542 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018429.2 +1 reviewed p.S1208L 0.000 90 0% 152 32.2% 1 100% benign(0.2) tolerated(0.27) neutral(0.053) NULL BDP1 55814 genome.wustl.edu 37 5 70820040 70820040 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018429.2 +1 reviewed p.E1888* 1.000 142 0% 202 35.6% 5 60% - - - NULL MAP1B 4131 genome.wustl.edu 37 5 71490312 71490312 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005909.3 +1 validated p.S377I 0.990 91 0% 170 30.6% 0 - possibly_damaging(0.671) tolerated(0.14) deleterious(0.487) NULL MAP1B 4131 genome.wustl.edu 37 5 71491142 71491142 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005909.3 +1 validated p.E654* 1.000 205 0% 491 34.6% 1 100% - - - NULL MAP1B 4131 genome.wustl.edu 37 5 71491646 71491646 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005909.3 +1 validated p.E822* 1.000 29 0% 30 53.3% 0 - - - - NULL MAP1B 4131 genome.wustl.edu 37 5 71492420 71492420 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005909.3 +1 validated p.E1080* 0.998 144 0% 243 31.3% 5 0% - - - NULL MAP1B 4131 genome.wustl.edu 37 5 71492903 71492903 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005909.3 +1 validated p.D1241Y 0.998 99 0% 127 33.9% 0 - unknown(0) deleterious(0.04) - NULL MAP1B 4131 genome.wustl.edu 37 5 71493046 71493046 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005909.3 +1 validated p.V1288 0.966 94 0% 90 21.1% 0 - - - - NULL MAP1B 4131 genome.wustl.edu 37 5 71493698 71493698 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005909.3 +1 validated p.D1506Y 1.000 174 0% 196 26.5% 3 0% unknown(0) deleterious(0) - NULL PTCD2 79810 genome.wustl.edu 37 5 71630912 71630912 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024754.3 +1 validated p.G179D 1.000 115 0% 207 31.4% 2 50% possibly_damaging(0.594) tolerated(0.06) deleterious(0.527) HMMPfam_PPR TNPO1 3842 genome.wustl.edu 37 5 72168537 72168537 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002270.3 +1 reviewed p.S223Y 1.000 264 0% 340 36.2% 7 71.4% benign(0.003) deleterious(0.02) neutral(0.383) HMMPfam_HEAT,superfamily_ARM repeat TNPO1 3842 genome.wustl.edu 37 5 72171523 72171523 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002270.3 +1 reviewed p.R254* 1.000 161 0% 195 28.2% 11 9% - - - HMMPfam_HEAT,superfamily_ARM repeat RGNEF 64283 genome.wustl.edu 37 5 73205357 73205357 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080479.2 +1 reviewed p.R1428C 0.912 15 0% 17 47.1% 3 100% probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL FAM169A 26049 genome.wustl.edu 37 5 74096822 74096822 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015566.1 -1 validated p.R329Q 0.960 120 0% 163 27% 1 0% probably_damaging(0.987) tolerated(0.16) deleterious(0.496) NULL GCNT4 51301 genome.wustl.edu 37 5 74324875 74324875 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016591.2 -1 validated p.D330Y 1.000 81 0% 72 38.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Branch ANKRD31 256006 genome.wustl.edu 37 5 74400131 74400131 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000274361 -1 known p.K1694N 0.997 101 0% 74 28.4% 0 - probably_damaging(0.983) deleterious(0) deleterious(0.873) NULL ANKRD31 256006 genome.wustl.edu 37 5 74400862 74400862 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000274361 -1 known p.E1451* 0.064 81 0% 92 32.6% 1 100% - - - NULL ANKRD31 256006 genome.wustl.edu 37 5 74441965 74441965 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000274361 -1 known p.E1091* 0.358 193 0% 135 33.3% 0 - - - - superfamily_ANK ANKRD31 256006 genome.wustl.edu 37 5 74442011 74442011 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000274361 -1 known p.I1075M 0.002 159 0% 95 45.3% 0 - benign(0.09) deleterious(0) neutral(0.451) superfamily_ANK ANKRD31 256006 genome.wustl.edu 37 5 74489337 74489337 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000274361 -1 known p.K366T 0.002 163 0% 137 35.8% 0 - benign(0.277) deleterious(0) deleterious(0.474) NULL ANKRD31 256006 genome.wustl.edu 37 5 74491918 74491918 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000274361 -1 known p.E185D 0.354 126 0% 108 24.1% 0 - benign(0.146) deleterious(0) neutral(0.457) NULL HMGCR 3156 genome.wustl.edu 37 5 74655086 74655086 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000859.2 +1 reviewed p.N750S 1.000 132 0% 103 35.9% 44 54.5% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_HMG-CoA_red,superfamily_Substrate-binding domain of HMG-CoA reductase POC5 134359 genome.wustl.edu 37 5 74981129 74981129 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001099271.1 -1 validated p.S437L 0.074 198 0% 280 35% 12 25% benign(0.01) tolerated(0.27) neutral(0.034) NULL POC5 134359 genome.wustl.edu 37 5 74998536 74998536 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001099271.1 -1 validated p.S136Y 0.261 241 0% 432 31.5% 3 33.3% probably_damaging(0.995) tolerated(0.08) deleterious(0.758) NULL SV2C 22987 genome.wustl.edu 37 5 75427717 75427717 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014979.1 +1 provisional p.R48W 1.000 239 0% 297 34.7% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_MFS_gen_substrate_transporter IQGAP2 10788 genome.wustl.edu 37 5 75885476 75885476 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006633.2 +1 validated p.K188T 1.000 145 0% 216 25.9% 0 - possibly_damaging(0.46) deleterious(0.01) deleterious(0.556) superfamily_Calponin-homology domain CH-domain IQGAP2 10788 genome.wustl.edu 37 5 75954443 75954443 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006633.2 +1 validated p.L827R 1.000 109 0% 225 31.6% 3 0% probably_damaging(0.991) deleterious(0.02) deleterious(0.827) NULL IQGAP2 10788 genome.wustl.edu 37 5 75970488 75970488 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006633.2 +1 validated p.L1161F 1.000 109 0% 123 32.5% 2 0% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) HMMSmart_SM00323,superfamily_GTPase activation domain GAP IQGAP2 10788 genome.wustl.edu 37 5 75991325 75991325 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006633.2 +1 validated p.S1347Y 1.000 76 0% 107 33.6% 2 0% possibly_damaging(0.816) tolerated(0.15) deleterious(0.549) NULL F2R 2149 genome.wustl.edu 37 5 76029028 76029028 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001992.3 +1 reviewed p.F326L 0.998 169 0% 259 32.4% 18 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 S100Z 170591 genome.wustl.edu 37 5 76173562 76173562 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_130772.3 +1 validated p.E69K 1.000 264 0% 458 37.6% 0 - benign(0.02) tolerated(0.43) neutral(0.014) PatternScan_S100_CABP,HMMSmart_SM00054,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_EF-hand AGGF1 55109 genome.wustl.edu 37 5 76331366 76331366 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018046.3 +1 validated p.D105A 1.000 99 0% 97 33% 4 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL AGGF1 55109 genome.wustl.edu 37 5 76344787 76344787 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018046.3 +1 validated p.R447Q 0.997 150 0% 167 33.5% 16 50% possibly_damaging(0.657) tolerated(0.31) neutral(0.259) HMMPfam_FHA,HMMSmart_SM00240,superfamily_SMAD/FHA domain AGGF1 55109 genome.wustl.edu 37 5 76358896 76358896 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018046.3 +1 validated p.R655Q 0.057 143 0% 155 36.8% 38 50% benign(0.027) tolerated(0.57) neutral(0.007) HMMPfam_G-patch,HMMSmart_SM00443 PDE8B 8622 genome.wustl.edu 37 5 76709015 76709015 + Missense_Mutation SNP C C T rs185733307 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003719.2 +1 validated p.R598W 1.000 340 0.3% 467 34.3% 0 - probably_damaging(0.999) tolerated(0.06) deleterious(0.813) superfamily_HD-domain/PDEase-like WDR41 55255 genome.wustl.edu 37 5 76729009 76729009 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018268.2 -1 validated p.R444I 0.808 182 0% 158 22.8% 17 47% benign(0.027) deleterious(0.05) neutral(0.347) NULL AP3B1 8546 genome.wustl.edu 37 5 77423982 77423982 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003664.3 -1 reviewed p.R614G 1.000 95 0% 62 27.4% 13 46.1% probably_damaging(0.996) tolerated(0.35) deleterious(0.482) superfamily_ARM repeat DMGDH 29958 genome.wustl.edu 37 5 78338288 78338288 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013391.2 -1 reviewed p.L337 1.000 100 0% 150 36.7% 0 - - - - HMMPfam_DAO,superfamily_FAD/NAD(P)-binding domain,superfamily_FAD-linked reductases C-terminal domain BHMT2 23743 genome.wustl.edu 37 5 78379147 78379147 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017614.4 +1 reviewed p.A244V 0.998 92 0% 131 37.4% 0 - benign(0) tolerated(0.25) neutral(0.037) HMMPfam_S-methyl_trans,superfamily_S_methyl_trans JMY 133746 genome.wustl.edu 37 5 78610533 78610533 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152405.4 +1 validated p.D840Y 0.062 17 0% 29 72.4% 3 66.6% benign(0.198) tolerated(0.08) neutral(0.319) NULL HOMER1 9456 genome.wustl.edu 37 5 78692720 78692720 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004272.3 -1 validated p.E268* 1.000 208 0% 250 34.4% 7 28.5% - - - NULL PAPD4 167153 genome.wustl.edu 37 5 78936750 78936750 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001114393.1 +1 validated p.R181Q 1.000 106 0% 114 28.1% 6 33.3% probably_damaging(0.961) tolerated(0.25) neutral(0.441) superfamily_Nucleotidyltransferase CMYA5 202333 genome.wustl.edu 37 5 79027449 79027449 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153610.3 +1 validated p.E954A 1.000 141 0% 198 36.9% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL CMYA5 202333 genome.wustl.edu 37 5 79029626 79029626 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153610.3 +1 validated p.E1680* 0.987 121 0% 95 26.3% 0 - - - - NULL CMYA5 202333 genome.wustl.edu 37 5 79030524 79030524 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153610.3 +1 validated p.S1979N 0.000 155 0% 114 38.6% 0 - benign(0.139) deleterious(0) neutral(0.457) NULL CMYA5 202333 genome.wustl.edu 37 5 79031408 79031408 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153610.3 +1 validated p.D2274Y 0.931 47 0% 32 43.8% 0 - benign(0.328) tolerated(0.24) neutral(0.140) NULL CMYA5 202333 genome.wustl.edu 37 5 79031763 79031763 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153610.3 +1 validated p.S2392Y 0.001 42 0% 31 41.9% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL CMYA5 202333 genome.wustl.edu 37 5 79034826 79034826 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153610.3 +1 validated p.R3413L 0.001 69 0% 65 30.8% 0 - probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL MTX3 345778 genome.wustl.edu 37 5 79284998 79284998 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001010891.4 -1 validated p.E100K 1.000 138 0% 144 66.7% 0 - benign(0.164) tolerated(0.31) neutral(0.042) HMMPfam_Tom37 SERINC5 256987 genome.wustl.edu 37 5 79473808 79473808 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178276.5 -1 validated p.Y92H 1.000 179 0% 401 30.7% 30 53.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Serinc SPZ1 84654 genome.wustl.edu 37 5 79616472 79616472 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032567.3 +1 validated p.L146 0.006 73 0% 126 30.2% 0 - - - - NULL ANKRD34B 340120 genome.wustl.edu 37 5 79854355 79854355 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004441.2 -1 validated p.K495T 1.000 109 0% 168 38.1% 1 100% benign(0.049) deleterious(0.01) neutral(0.409) NULL DHFR 1719 genome.wustl.edu 37 5 79924930 79924930 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000791.3 -1 reviewed p.F180 1.000 96 0% 135 35.6% 30 53.3% - - - HMMPfam_DHFR_1,superfamily_Dihydrofolate reductases MSH3 4437 genome.wustl.edu 37 5 80071530 80071530 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002439.3 +1 reviewed p.K757N 1.000 245 0% 190 30% 3 33.3% probably_damaging(0.989) tolerated(0.11) deleterious(0.711) HMMSmart_SM00533,superfamily_DNA repair protein MutS domain III MSH3 4437 genome.wustl.edu 37 5 80088572 80088572 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002439.3 +1 reviewed p.R855I 0.988 159 0% 170 20.6% 4 0% benign(0.018) tolerated(0.21) neutral(0.044) HMMPfam_MutS_V,HMMSmart_SM00533,superfamily_P-loop containing nucleoside triphosphate hydrolases RASGRF2 5924 genome.wustl.edu 37 5 80376533 80376533 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006909.1 +1 validated p.L362 1.000 147 0% 144 33.3% 0 - - - - HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) RASGRF2 5924 genome.wustl.edu 37 5 80497249 80497249 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006909.1 +1 validated p.A965V 0.978 86 0% 106 32.1% 0 - benign(0.012) tolerated(0.07) neutral(0.320) HMMSmart_SM00229,superfamily_Ras GEF XRCC4 7518 genome.wustl.edu 37 5 82400758 82400758 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022406.2 +1 reviewed p.R7I 1.000 137 0% 101 28.7% 7 28.5% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_XRCC4 N-terminal domain,HMMPfam_XRCC4 XRCC4 7518 genome.wustl.edu 37 5 82406885 82406885 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022406.2 +1 reviewed p.A60T 1.000 191 0% 200 25.5% 6 0% possibly_damaging(0.659) tolerated(0.09) deleterious(0.529) superfamily_XRCC4 N-terminal domain,HMMPfam_XRCC4 VCAN 1462 genome.wustl.edu 37 5 82816085 82816085 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004385.4 +1 reviewed p.E654* 0.073 178 0.6% 172 33.1% 0 - - - - NULL VCAN 1462 genome.wustl.edu 37 5 82817918 82817918 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004385.4 +1 reviewed p.D1265Y 0.900 129 0% 157 25.5% 4 25% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL VCAN 1462 genome.wustl.edu 37 5 82834562 82834562 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004385.4 +1 reviewed p.E1914* 0.000 77 0% 40 35% 4 0% - - - NULL VCAN 1462 genome.wustl.edu 37 5 82834946 82834946 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004385.4 +1 reviewed p.D2042N 0.027 139 0% 116 37.1% 4 25% probably_damaging(0.998) - - NULL VCAN 1462 genome.wustl.edu 37 5 82836059 82836059 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004385.4 +1 reviewed p.E2413* 0.000 124 0% 120 27.5% 15 0% - - - NULL VCAN 1462 genome.wustl.edu 37 5 82837019 82837019 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004385.4 +1 reviewed p.D2733N 1.000 62 0% 57 22.8% 18 0% probably_damaging(0.998) - - NULL RASA1 5921 genome.wustl.edu 37 5 86633855 86633855 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002890.1 +1 reviewed p.N322H 1.000 262 0% 324 31.8% 2 50% probably_damaging(0.967) tolerated(0.17) neutral(0.468) HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH2 domain RASA1 5921 genome.wustl.edu 37 5 86672209 86672209 + Splice_Site SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002890.1 +1 reviewed e16-1 1.000 155 0% 190 32.1% 2 0% - - - - RASA1 5921 genome.wustl.edu 37 5 86674274 86674274 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002890.1 +1 reviewed p.M802I 1.000 188 0% 200 29% 11 81.8% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_RasGAP,HMMSmart_SM00323,superfamily_GTPase activation domain GAP CCNH 902 genome.wustl.edu 37 5 86707124 86707124 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001239.2 -1 reviewed p.E53* 1.000 255 0.4% 295 35.9% 21 14.2% - - - superfamily_Cyclin_like MEF2C 4208 genome.wustl.edu 37 5 88018554 88018554 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002397.3 -1 validated p.S430L 1.000 158 0% 181 35.4% 2 0% probably_damaging(0.984) deleterious(0) deleterious(0.875) NULL MEF2C 4208 genome.wustl.edu 37 5 88018705 88018705 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002397.3 -1 validated p.L380I 1.000 163 0% 267 31.8% 1 0% probably_damaging(0.988) deleterious(0.02) deleterious(0.821) NULL MBLAC2 153364 genome.wustl.edu 37 5 89757175 89757175 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_203406.1 -1 validated p.E217* 1.000 111 0% 121 33.1% 3 33.3% - - - HMMPfam_Lactamase_B,superfamily_Metallo-hydrolase/oxidoreductase MBLAC2 153364 genome.wustl.edu 37 5 89757208 89757208 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_203406.1 -1 validated p.S206R 1.000 107 0% 144 24.3% 2 0% benign(0.147) tolerated(0.43) neutral(0.026) HMMPfam_Lactamase_B,superfamily_Metallo-hydrolase/oxidoreductase POLR3G 10622 genome.wustl.edu 37 5 89791515 89791515 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006467.2 +1 validated p.R90I 1.000 387 0% 418 28.7% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL LYSMD3 116068 genome.wustl.edu 37 5 89815070 89815070 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198273.1 -1 validated p.E163* 1.000 330 0% 427 27.9% 3 100% - - - NULL GPR98 84059 genome.wustl.edu 37 5 89923132 89923132 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032119.3 +1 reviewed p.N259 1.000 73 0% 106 43.4% 0 - - - - NULL GPR98 84059 genome.wustl.edu 37 5 89941882 89941882 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032119.3 +1 reviewed p.R999I 0.978 298 0% 377 32.6% 0 - possibly_damaging(0.929) tolerated(0.05) deleterious(0.722) HMMPfam_Calx-beta,HMMSmart_SM00237 GPR98 84059 genome.wustl.edu 37 5 89992912 89992912 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000509621 +1 known p.W267* 1.000 231 0% 221 31.7% 0 - probably_damaging(1) tolerated(0.17) deleterious(0.559) NULL GPR98 84059 genome.wustl.edu 37 5 90136797 90136797 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032119.3 +1 reviewed p.E5672* 0.292 85 0% 112 32.1% 7 28.5% - - - NULL GPR98 84059 genome.wustl.edu 37 5 90144497 90144497 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032119.3 +1 reviewed p.R5688Q 1.000 178 0% 146 32.9% 1 0% probably_damaging(0.994) deleterious(0.03) deleterious(0.817) NULL NR2F1 7025 genome.wustl.edu 37 5 92921100 92921100 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005654.4 +1 provisional p.A124V 1.000 65 0% 83 43.4% 30 46.6% possibly_damaging(0.575) tolerated(0.13) neutral(0.450) HMMPfam_zf-C4,HMMSmart_ZnF_C4,superfamily_SSF57716 NR2F1 7025 genome.wustl.edu 37 5 92929432 92929432 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005654.4 +1 provisional p.E386K 1.000 104 0% 122 38.5% 66 30.3% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Hormone_recep,superfamily_Str_ncl_receptor KIAA0825 285600 genome.wustl.edu 37 5 93859651 93859651 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145678.1 -1 validated p.K95T 0.985 220 0% 170 33.5% 1 100% possibly_damaging(0.527) tolerated(0.05) deleterious(0.523) NULL ANKRD32 84250 genome.wustl.edu 37 5 93964594 93964594 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032290.3 +1 validated p.L27I 1.000 157 0% 167 25.1% 1 0% benign(0.073) tolerated(1) neutral(0.005) HMMPfam_BRCT,HMMSmart_BRCT,superfamily_BRCT ANKRD32 84250 genome.wustl.edu 37 5 94014651 94014651 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032290.3 +1 validated p.S656A 0.992 356 0% 512 31.8% 9 11.1% possibly_damaging(0.865) tolerated(0.12) deleterious(0.596) NULL MCTP1 79772 genome.wustl.edu 37 5 94134757 94134757 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024717.4 -1 validated p.F839L 1.000 206 0% 228 32.9% 2 0% benign(0.021) tolerated(0.63) neutral(0.005) NULL MCTP1 79772 genome.wustl.edu 37 5 94245012 94245012 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024717.4 -1 validated p.V532 0.978 137 0% 118 28% 0 - - - - HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) TTC37 9652 genome.wustl.edu 37 5 94818227 94818227 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014639.2 -1 provisional p.E1388* 1.000 259 0% 316 27.5% 15 20% - - - superfamily_Prenyl_trans TTC37 9652 genome.wustl.edu 37 5 94863758 94863758 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014639.2 -1 provisional p.D365Y 0.916 142 0% 107 38.3% 1 100% probably_damaging(0.968) tolerated(0.07) deleterious(0.729) NULL TTC37 9652 genome.wustl.edu 37 5 94872585 94872585 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014639.2 -1 provisional p.M229I 1.000 162 0% 221 29% 2 0% possibly_damaging(0.643) deleterious(0.04) deleterious(0.575) superfamily_SSF48452 ARSK 153642 genome.wustl.edu 37 5 94918696 94918696 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198150.2 +1 validated p.R165C 0.204 130 0% 199 29.1% 2 0% benign(0.054) tolerated(0.19) neutral(0.053) HMMPfam_Sulfatase,superfamily_Alkaline_phosphatase_core ELL2 22936 genome.wustl.edu 37 5 95242391 95242391 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012081.5 -1 validated p.R193* 1.000 271 0% 368 35.9% 1 0% - - - HMMPfam_ELL PCSK1 5122 genome.wustl.edu 37 5 95728734 95728734 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000439.4 -1 reviewed p.L745M 0.994 154 0% 213 35.2% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL PCSK1 5122 genome.wustl.edu 37 5 95730723 95730723 + Silent SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000439.4 -1 reviewed p.R577 1.000 227 0% 306 30.7% 0 - - - - HMMPfam_P_proprotein,superfamily_Gal_bind_like ERAP1 51752 genome.wustl.edu 37 5 96112228 96112228 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016442.3 -1 validated p.E900* 1.000 238 0% 231 33.8% 12 25% - - - NULL ERAP1 51752 genome.wustl.edu 37 5 96117545 96117545 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016442.3 -1 validated p.V767M 1.000 162 0% 158 34.8% 11 27.2% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL ERAP1 51752 genome.wustl.edu 37 5 96139390 96139390 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016442.3 -1 validated p.T80 0.000 302 0.3% 448 33% 6 0% - - - HMMPfam_Peptidase_M1,superfamily_SSF63737 LIX1 167410 genome.wustl.edu 37 5 96430658 96430658 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153234.4 -1 validated p.R215W 0.989 152 0% 161 39.8% 0 - possibly_damaging(0.438) deleterious(0.01) deleterious(0.548) NULL RGMB 285704 genome.wustl.edu 37 5 98115311 98115311 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001012761.2 +1 validated p.R96Q 1.000 101 0% 84 22.6% 5 20% probably_damaging(0.999) tolerated(0.1) deleterious(0.777) HMMPfam_RGM_N CHD1 1105 genome.wustl.edu 37 5 98199149 98199149 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001270.2 -1 reviewed p.E1464* 1.000 294 0% 288 30.9% 4 0% - - - NULL CHD1 1105 genome.wustl.edu 37 5 98204301 98204301 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001270.2 -1 reviewed p.K1382N 1.000 168 0% 307 29.6% 2 0% benign(0.016) tolerated(0.27) neutral(0.034) NULL CHD1 1105 genome.wustl.edu 37 5 98262088 98262088 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001270.2 -1 reviewed p.M1I 1.000 232 0.4% 265 34.7% 2 0% benign(0.012) deleterious(0) neutral(0.445) NULL ST8SIA4 7903 genome.wustl.edu 37 5 100238590 100238590 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005668.4 -1 reviewed p.E24* 1.000 261 0% 412 12.6% 2 0% - - - NULL SLCO4C1 353189 genome.wustl.edu 37 5 101572570 101572570 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_180991.4 -1 validated p.E723* 0.205 330 0% 308 33.1% 1 0% - - - NULL SLCO4C1 353189 genome.wustl.edu 37 5 101631961 101631961 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_180991.4 -1 validated p.K2 0.743 131 0% 178 36% 0 - - - - NULL SLCO6A1 133482 genome.wustl.edu 37 5 101709078 101709078 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173488.3 -1 validated p.K713T 0.000 257 0% 258 31.4% 0 - benign(0.044) deleterious(0) neutral(0.447) NULL SLCO6A1 133482 genome.wustl.edu 37 5 101724491 101724491 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173488.3 -1 validated p.E640* 0.001 188 0% 165 35.2% 0 - - - - HMMPfam_OATP,superfamily_MFS general substrate transporter SLCO6A1 133482 genome.wustl.edu 37 5 101794133 101794133 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173488.3 -1 validated p.D362Y 0.000 315 0% 210 26.7% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_OATP,superfamily_MFS general substrate transporter SLCO6A1 133482 genome.wustl.edu 37 5 101834423 101834423 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173488.3 -1 validated p.S42 0.001 91 0% 132 43.9% 0 - - - - NULL PAM 5066 genome.wustl.edu 37 5 102260717 102260717 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000345721 +1 known p.E119* 1.000 219 0% 202 40.1% 63 31.7% - - - NULL PAM 5066 genome.wustl.edu 37 5 102361011 102361011 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000919.3 +1 reviewed p.R888W 1.000 144 0% 79 21.5% 58 31% benign(0.014) deleterious(0.01) neutral(0.406) NULL GIN1 54826 genome.wustl.edu 37 5 102423643 102423643 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017676.2 -1 validated p.L510M 0.879 85 0% 97 40.2% 6 50% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL LOC100287833 100287833 genome.wustl.edu 37 5 106530946 106530946 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002342546.1 +1 model p.L19 0.993 42 0% 41 31.7% 144 0% - - - HMMPfam_AAA FER 2241 genome.wustl.edu 37 5 108133970 108133970 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005246.2 +1 reviewed p.K29N 1.000 109 0% 166 33.7% 1 100% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_FCH,HMMSmart_SM00055 FER 2241 genome.wustl.edu 37 5 108281868 108281868 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005246.2 +1 reviewed p.R425H 1.000 203 0% 124 26.6% 2 50% probably_damaging(0.997) deleterious(0.02) deleterious(0.849) NULL PJA2 9867 genome.wustl.edu 37 5 108679903 108679903 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014819.4 -1 validated p.I663M 1.000 99 0% 170 24.7% 25 36% probably_damaging(0.991) deleterious(0.01) deleterious(0.850) HMMSmart_RING,HMMPfam_zf-C3HC4,superfamily_SSF57850 TMEM232 642987 genome.wustl.edu 37 5 109760540 109760540 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000455884 -1 known p.K594R 0.941 195 0% 179 31.3% 0 - benign(0.003) tolerated(0.2) neutral(0.049) NULL TMEM232 642987 genome.wustl.edu 37 5 109978037 109978037 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001039763.3 -1 validated p.R54K 0.191 332 0% 244 30.7% 0 - benign(0.002) tolerated(0.99) - NULL CAMK4 814 genome.wustl.edu 37 5 110818492 110818492 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001744.3 +1 reviewed p.L280V 0.999 98 0% 133 38.3% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase STARD4 134429 genome.wustl.edu 37 5 110837723 110837723 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_139164.1 -1 provisional p.G73 0.933 219 0% 214 35.5% 10 80% - - - HMMPfam_START,superfamily_SSF55961 EPB41L4A 64097 genome.wustl.edu 37 5 111575402 111575402 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022140.3 -1 validated p.R307I 1.000 386 0% 305 28.9% 3 66.6% possibly_damaging(0.853) deleterious(0.02) deleterious(0.712) superfamily_PH domain-like APC 324 genome.wustl.edu 37 5 112102086 112102086 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000038.4 +1 reviewed p.D67Y 1.000 93 0% 96 29.2% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL APC 324 genome.wustl.edu 37 5 112173465 112173465 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000038.4 +1 reviewed p.A725V 1.000 119 0% 176 34.7% 4 50% possibly_damaging(0.729) deleterious(0.02) deleterious(0.649) HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat APC 324 genome.wustl.edu 37 5 112175046 112175046 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000038.4 +1 reviewed p.S1252Y 0.998 61 0% 82 41.5% 2 50% benign(0.011) tolerated(0.07) neutral(0.320) NULL APC 324 genome.wustl.edu 37 5 112175490 112175490 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000038.4 +1 reviewed p.S1400L 1.000 136 0% 204 36.8% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL APC 324 genome.wustl.edu 37 5 112177901 112177901 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000038.4 +1 reviewed p.R2204* 0.999 57 0% 64 42.2% 5 0% - - - NULL APC 324 genome.wustl.edu 37 5 112178000 112178000 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000038.4 +1 reviewed p.R2237* 1.000 88 0% 109 26.6% 7 42.8% - - - HMMPfam_APC_basic APC 324 genome.wustl.edu 37 5 112179161 112179161 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000038.4 +1 reviewed p.N2624D 0.727 85 0% 105 42.9% 5 60% benign(0.004) tolerated(0.33) neutral(0.024) NULL APC 324 genome.wustl.edu 37 5 112179274 112179274 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000038.4 +1 reviewed p.I2661 0.997 96 0% 124 34.7% 9 44.4% - - - NULL DCP2 167227 genome.wustl.edu 37 5 112336802 112336802 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152624.4 +1 validated p.D152Y 1.000 117 0% 119 16.8% 9 55.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_NUDIX,superfamily_Nudix MCC 4163 genome.wustl.edu 37 5 112363114 112363114 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001085377.1 -1 reviewed p.S982L 0.996 373 0% 528 34.7% 4 0% benign(0.011) deleterious(0.04) neutral(0.349) HMMPfam_MCC-bdg_PDZ YTHDC2 64848 genome.wustl.edu 37 5 112851060 112851060 + Splice_Site SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022828.3 +1 validated e2+1 1.000 264 0% 275 32% 0 - - - - - YTHDC2 64848 genome.wustl.edu 37 5 112860692 112860692 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022828.3 +1 validated p.R98K 1.000 86 0% 78 35.9% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_R3H,superfamily_SSF82708 ENSG00000245358 0 genome.wustl.edu 37 5 114513619 114513619 + RNA SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000502182 +1 known NULL 0.001 77 0% 140 40% 0 - - - - - PGGT1B 5229 genome.wustl.edu 37 5 114572094 114572094 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005023.3 -1 validated p.R202K 1.000 174 0% 169 32% 4 50% benign(0) tolerated(0.8) neutral(0.001) HMMPfam_Prenyltrans,superfamily_Terpenoid cyclases/Protein prenyltransferases AQPEP 206338 genome.wustl.edu 37 5 115320352 115320352 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173800.4 +1 validated p.V308 0.001 167 0% 150 24% 1 100% - - - HMMPfam_Peptidase_M1,superfamily_Leukotriene A4 hydrolase N-terminal domain AQPEP 206338 genome.wustl.edu 37 5 115338968 115338968 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173800.4 +1 validated p.S643F 1.000 133 0% 112 27.7% 0 - probably_damaging(0.996) deleterious(0.02) deleterious(0.845) NULL AQPEP 206338 genome.wustl.edu 37 5 115351063 115351063 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173800.4 +1 validated p.K855N 0.000 302 0% 199 27.6% 0 - possibly_damaging(0.873) tolerated(0.24) neutral(0.377) NULL DMXL1 1657 genome.wustl.edu 37 5 118465081 118465081 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005509.4 +1 validated p.V426 0.624 85 0% 86 31.4% 1 0% - - - superfamily_WD40 repeat-like DMXL1 1657 genome.wustl.edu 37 5 118506506 118506506 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005509.4 +1 validated p.S2007Y 0.997 68 0% 81 37% 1 0% benign(0.257) deleterious(0.05) neutral(0.372) NULL FAM170A 340069 genome.wustl.edu 37 5 118970730 118970730 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000439366 +1 known p.R171K 0.663 353 0% 445 31% 0 - unknown(0) - - NULL LOX 4015 genome.wustl.edu 37 5 121412638 121412638 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002317.5 -1 reviewed p.K230N 1.000 150 0.7% 132 31.8% 2 0% benign(0.039) tolerated(0.1) neutral(0.288) HMMPfam_Lysyl_oxidase SNCAIP 9627 genome.wustl.edu 37 5 121786334 121786334 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005460.2 +1 reviewed p.L598I 0.992 127 0% 140 40.7% 11 27.2% probably_damaging(0.953) deleterious(0.02) deleterious(0.780) NULL CEP120 153241 genome.wustl.edu 37 5 122713081 122713081 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153223.3 -1 reviewed p.R782H 0.720 295 0% 227 32.6% 3 66.6% probably_damaging(0.997) tolerated(0.13) deleterious(0.719) NULL CEP120 153241 genome.wustl.edu 37 5 122734892 122734892 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153223.3 -1 reviewed p.E184* 0.879 122 0% 160 39.4% 2 0% - - - NULL CSNK1G3 1456 genome.wustl.edu 37 5 122881529 122881529 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001044723.1 +1 validated p.R58* 1.000 119 0% 94 40.4% 2 0% - - - superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase CSNK1G3 1456 genome.wustl.edu 37 5 122909201 122909201 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001044723.1 +1 validated p.S135Y 1.000 325 0% 459 25.9% 5 20% probably_damaging(0.956) deleterious(0) deleterious(0.844) superfamily_Kinase_like,HMMPfam_Pkinase SLC12A2 6558 genome.wustl.edu 37 5 127497359 127497359 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001046.2 +1 validated p.R828Q 1.000 44 0% 48 27.1% 7 28.5% probably_damaging(0.973) tolerated(0.37) neutral(0.434) NULL SLC12A2 6558 genome.wustl.edu 37 5 127518625 127518625 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001046.2 +1 validated p.K1097 1.000 158 0% 140 20% 8 37.5% - - - NULL FBN2 2201 genome.wustl.edu 37 5 127595366 127595366 + Silent SNP G G A rs139098335 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001999.3 -1 reviewed p.N2840 0.001 340 0.9% 475 39.4% 63 52.3% - - - NULL CHSY3 337876 genome.wustl.edu 37 5 129520634 129520634 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_175856.4 +1 validated p.S600Y 1.000 90 0% 85 36.5% 1 0% probably_damaging(0.997) tolerated(0.1) deleterious(0.752) HMMPfam_CHGN,superfamily_SSF53448 HINT1 3094 genome.wustl.edu 37 5 130495033 130495033 + RNA SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NR_024610.1 -1 validated NULL 0.003 33 0% 63 38.1% 557 36.8% - - - - HINT1 3094 genome.wustl.edu 37 5 130498310 130498310 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005340.5 -1 validated p.K57N 1.000 244 0% 525 28.8% 777 40.1% possibly_damaging(0.736) tolerated(0.12) deleterious(0.530) HMMPfam_HIT,superfamily_His_triad-like_motif LYRM7 90624 genome.wustl.edu 37 5 130506723 130506723 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_181705.2 +1 validated p.A4T 0.996 60 0% 90 31.1% 1 0% benign(0.014) tolerated(0.19) neutral(0.050) NULL RAPGEF6 51735 genome.wustl.edu 37 5 130766704 130766704 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016340.5 -1 validated p.S1438Y 1.000 166 0% 348 32.5% 1 0% probably_damaging(1) tolerated(0.11) deleterious(0.772) NULL RAPGEF6 51735 genome.wustl.edu 37 5 130785736 130785736 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000296859 -1 known p.K1068N 1.000 164 0% 215 36.3% 0 - possibly_damaging(0.932) tolerated(0.08) deleterious(0.678) HMMSmart_RasGEF,superfamily_Ras_GEF RAPGEF6 51735 genome.wustl.edu 37 5 130940362 130940362 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016340.5 -1 validated p.L32I 1.000 54 0% 106 20.8% 2 0% probably_damaging(0.985) deleterious(0.01) deleterious(0.838) superfamily_cAMP-binding domain-like FNIP1 96459 genome.wustl.edu 37 5 131054688 131054688 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_133372.2 -1 validated p.S174N 1.000 122 0% 160 35.6% 7 28.5% benign(0.355) deleterious(0.04) neutral(0.461) NULL IL3 3562 genome.wustl.edu 37 5 131396478 131396478 + Missense_Mutation SNP C C A rs40401 byCluster;byFrequency;by2Hit2Allele;by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000588.3 +1 reviewed p.P27T 0.000 134 0% 200 30% 0 - benign(0) deleterious(0.05) neutral(0.345) HMMPfam_IL3 SLC22A5 6584 genome.wustl.edu 37 5 131724668 131724668 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003060.3 +1 reviewed p.R336Q 0.244 81 0% 171 29.8% 4 50% benign(0.077) deleterious(0.03) neutral(0.370) HMMPfam_MFS_1,superfamily_MFS general substrate transporter KIF3A 11127 genome.wustl.edu 37 5 132051455 132051455 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007054.5 -1 validated p.E375* 1.000 167 0% 207 28.5% 1 0% - - - NULL KIF3A 11127 genome.wustl.edu 37 5 132069979 132069979 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007054.5 -1 validated p.V66 1.000 192 0% 343 32.7% 4 0% - - - HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases GDF9 2661 genome.wustl.edu 37 5 132197960 132197960 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005260.3 -1 reviewed p.R229I 0.413 181 0% 270 33.3% 0 - possibly_damaging(0.928) deleterious(0.03) deleterious(0.740) NULL HSPA4 3308 genome.wustl.edu 37 5 132409810 132409810 + Nonsense_Mutation SNP A A T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002154.3 +1 validated p.K219* 1.000 86 0% 144 28.5% 16 0% - - - HMMPfam_HSP70,superfamily_SSF53067 FSTL4 23105 genome.wustl.edu 37 5 132535150 132535150 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015082.1 -1 validated p.I722 0.995 125 0% 152 27.6% 1 0% - - - superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase C5orf15 56951 genome.wustl.edu 37 5 133292566 133292566 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020199.2 -1 validated p.N261T 1.000 118 0% 149 34.9% 18 50% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL C5orf15 56951 genome.wustl.edu 37 5 133295578 133295578 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000451255 -1 known p.R19Q 0.000 95 0% 243 37% 39 43.5% benign(0) tolerated(0.1) neutral(0.286) NULL TCF7 6932 genome.wustl.edu 37 5 133473798 133473798 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003202.3 +1 validated p.E164K 1.000 304 0% 564 34.2% 3 33.3% benign(0.277) deleterious(0.02) neutral(0.412) HMMPfam_CTNNB1_binding PPP2CA 5515 genome.wustl.edu 37 5 133536744 133536744 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002715.2 -1 reviewed p.L170I 1.000 131 0% 179 21.2% 129 38.7% benign(0.288) deleterious(0.02) deleterious(0.472) HMMPfam_Metallophos,HMMSmart_SM00156,superfamily_Metallo-dependent phosphatases CDKL3 51265 genome.wustl.edu 37 5 133634364 133634364 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001113575.1 -1 reviewed p.R586I 1.000 133 0% 198 24.7% 1 100% benign(0.015) deleterious(0) neutral(0.445) NULL CAMLG 819 genome.wustl.edu 37 5 134086512 134086512 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001745.2 +1 reviewed p.E255K 1.000 222 0.5% 374 41.2% 66 42.4% probably_damaging(0.979) deleterious(0) deleterious(0.867) NULL DDX46 9879 genome.wustl.edu 37 5 134154670 134154670 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014829.2 +1 reviewed p.R984W 1.000 116 0% 217 33.6% 53 28.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TXNDC15 79770 genome.wustl.edu 37 5 134223403 134223403 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024715.3 +1 validated p.R41H 0.000 46 0% 78 30.8% 24 41.6% benign(0) tolerated(1) - NULL PITX1 5307 genome.wustl.edu 37 5 134364650 134364650 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002653.4 -1 reviewed p.S255L 1.000 58 0% 74 31.1% 77 58.4% possibly_damaging(0.856) deleterious(0.01) deleterious(0.736) NULL H2AFY 9555 genome.wustl.edu 37 5 134670771 134670771 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138610.2 -1 reviewed p.F338 0.973 140 0% 216 38.4% 337 41.2% - - - superfamily_Macro domain-like C5orf20 140947 genome.wustl.edu 37 5 134782260 134782260 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_130848.2 -1 reviewed p.S180* 0.000 173 0% 253 35.6% 0 - - - - NULL IL9 3578 genome.wustl.edu 37 5 135228123 135228123 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000590.1 -1 reviewed p.I131T 0.000 274 0% 255 38% 0 - benign(0.041) tolerated(1) neutral(0.003) HMMPfam_IL7 FBXL21 26223 genome.wustl.edu 37 5 135272315 135272315 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012159.4 +1 validated p.K11T 0.201 170 0% 156 39.1% 0 - benign(0.022) tolerated(0.08) neutral(0.301) NULL FBXL21 26223 genome.wustl.edu 37 5 135276313 135276313 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012159.4 +1 validated p.P209T 1.000 251 0% 197 26.9% 0 - benign(0) deleterious(0.05) neutral(0.345) superfamily_RNI-like FBXL21 26223 genome.wustl.edu 37 5 135276812 135276812 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012159.4 +1 validated p.E253K 0.995 160 0% 150 34% 0 - probably_damaging(0.999) tolerated(0.1) deleterious(0.777) superfamily_RNI-like LECT2 3950 genome.wustl.edu 37 5 135286967 135286967 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002302.2 -1 reviewed p.E78D 1.000 274 0% 294 27.6% 0 - possibly_damaging(0.664) tolerated(0.6) neutral(0.239) HMMPfam_Peptidase_M23 TGFBI 7045 genome.wustl.edu 37 5 135389736 135389736 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000358.2 +1 reviewed p.T411A 1.000 120 0% 139 30.9% 141 9.9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Fasciclin,HMMSmart_SM00554,superfamily_FAS1 domain SMAD5 4090 genome.wustl.edu 37 5 135508374 135508374 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000507637 +1 known p.R165Q 0.159 123 1.6% 117 27.4% 2 100% possibly_damaging(0.662) deleterious(0) deleterious(0.678) HMMPfam_MH2,HMMSmart_SM00524 TRPC7 57113 genome.wustl.edu 37 5 135561823 135561823 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000513104 -1 known p.L721I 1.000 250 0% 266 27.1% 0 - benign(0.009) tolerated(0.26) neutral(0.035) NULL TRPC7 57113 genome.wustl.edu 37 5 135610523 135610523 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000378459 -1 known p.R261C 1.000 95 0% 119 30.3% 0 - - - - NULL KLHL3 26249 genome.wustl.edu 37 5 136964046 136964046 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017415.2 -1 validated p.D511N 1.000 200 0% 239 31.4% 1 0% benign(0.015) tolerated(0.84) neutral(0.001) HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain KLHL3 26249 genome.wustl.edu 37 5 136993957 136993957 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017415.2 -1 validated p.E256* 1.000 260 0% 315 26.7% 0 - - - - NULL PKD2L2 27039 genome.wustl.edu 37 5 137226190 137226190 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014386.2 +1 validated p.H18N 0.100 179 0% 243 23% 0 - benign(0.006) tolerated(0.13) neutral(0.253) NULL PKD2L2 27039 genome.wustl.edu 37 5 137228173 137228173 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014386.2 +1 validated p.T46 1.000 125 0.8% 180 37.8% 0 - - - - NULL PKD2L2 27039 genome.wustl.edu 37 5 137241966 137241966 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014386.2 +1 validated p.R273K 1.000 186 0% 269 33.5% 0 - probably_damaging(0.994) tolerated(0.24) deleterious(0.489) HMMPfam_PKD_channel PKD2L2 27039 genome.wustl.edu 37 5 137259121 137259121 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014386.2 +1 validated p.A488T 1.000 52 0% 50 22% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_PKD_channel BRD8 10902 genome.wustl.edu 37 5 137499034 137499034 + Splice_Site SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_139199.1 -1 reviewed e15-1 1.000 117 0% 181 26% 1 0% - - - - KDM3B 51780 genome.wustl.edu 37 5 137734038 137734038 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016604.3 +1 validated p.L1001 0.973 128 0% 204 36.8% 18 11.1% - - - NULL KDM3B 51780 genome.wustl.edu 37 5 137761238 137761238 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016604.3 +1 validated p.R1460W 1.000 228 0% 357 27.5% 22 50% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) superfamily_Clavaminate synthase-like HSPA9 3313 genome.wustl.edu 37 5 137903145 137903145 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004134.6 -1 reviewed p.V239F 0.954 130 0% 188 25.5% 114 46.4% probably_damaging(0.963) deleterious(0) deleterious(0.850) HMMPfam_HSP70,superfamily_SSF53067 HSPA9 3313 genome.wustl.edu 37 5 137906670 137906670 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004134.6 -1 reviewed p.D130G 1.000 93 0% 178 27.5% 97 45.3% possibly_damaging(0.568) deleterious(0) deleterious(0.639) HMMPfam_HSP70,superfamily_SSF53067 LRRTM2 26045 genome.wustl.edu 37 5 138208952 138208952 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015564.2 -1 validated p.S433Y 1.000 230 0% 322 31.4% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL LRRTM2 26045 genome.wustl.edu 37 5 138209226 138209226 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015564.2 -1 validated p.P342S 1.000 170 0% 261 32.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL LRRTM2 26045 genome.wustl.edu 37 5 138210084 138210084 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015564.2 -1 validated p.P56S 1.000 110 0% 147 44.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_L domain-like MATR3 9782 genome.wustl.edu 37 5 138643784 138643784 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000515833 +1 known p.E1* 1.000 157 0% 266 34.2% 44 34% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PSD2 84249 genome.wustl.edu 37 5 139192948 139192948 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032289.2 +1 provisional p.E142D 1.000 27 0% 31 32.3% 0 - possibly_damaging(0.882) deleterious(0) deleterious(0.789) NULL SLC4A9 83697 genome.wustl.edu 37 5 139740931 139740931 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031467.2 +1 validated p.T162A 0.957 31 0% 60 51.7% 0 - benign(0.002) tolerated(0.36) neutral(0.020) HMMPfam_Band_3_cyto,superfamily_PTrfase/Anion_transptr ANKHD1-EIF4EBP3 404734 genome.wustl.edu 37 5 139838772 139838772 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020690.4 +1 reviewed p.E502K 1.000 139 0% 158 24.7% 24 45.8% probably_damaging(0.994) tolerated(0.17) deleterious(0.511) HMMPfam_Ank,superfamily_ANK ANKHD1-EIF4EBP3 404734 genome.wustl.edu 37 5 139903781 139903781 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020690.4 +1 reviewed p.S1483L 0.998 193 0% 457 30% 19 31.5% benign(0.002) tolerated(0.26) neutral(0.034) NULL WDR55 54853 genome.wustl.edu 37 5 140049165 140049165 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017706.4 +1 validated p.A360T 1.000 79 0% 188 31.9% 38 34.2% possibly_damaging(0.903) deleterious(0.01) deleterious(0.764) NULL HARS 3035 genome.wustl.edu 37 5 140057275 140057275 + Missense_Mutation SNP G G A rs186526524 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002109.3 -1 reviewed p.R232C 1.000 215 0.5% 541 34.2% 89 42.6% probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_tRNA-synt_2b,superfamily_SSF55681 ZMAT2 153527 genome.wustl.edu 37 5 140083572 140083572 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144723.1 +1 provisional p.K102N 1.000 264 0% 518 30.9% 116 37% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00451,PatternScan_ZINC_FINGER_C2H2_1,superfamily_C2H2 and C2HC zinc fingers PCDHA1 56147 genome.wustl.edu 37 5 140166686 140166686 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018900.2 +1 reviewed p.E271K 1.000 162 0% 250 33.6% 1 100% benign(0.041) deleterious(0) neutral(0.447) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA1 56147 genome.wustl.edu 37 5 140166776 140166776 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018900.2 +1 reviewed p.E301* 1.000 117 0% 190 42.1% 1 0% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA2 56146 genome.wustl.edu 37 5 140176448 140176448 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018905.2 +1 reviewed p.T633 0.019 64 0% 72 38.9% 1 100% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA3 56145 genome.wustl.edu 37 5 140181022 140181022 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018906.2 +1 reviewed p.Q80 1.000 114 0% 159 30.2% 0 - - - - HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like PCDHA3 56145 genome.wustl.edu 37 5 140181797 140181797 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018906.2 +1 reviewed p.E339K 0.029 189 0% 309 28.8% 1 0% benign(0.003) tolerated(0.44) neutral(0.013) HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like PCDHA5 56143 genome.wustl.edu 37 5 140203204 140203204 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018908.2 +1 reviewed p.G615D 0.015 76 0% 62 33.9% 1 100% benign(0.019) tolerated(0.23) neutral(0.043) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA6 56142 genome.wustl.edu 37 5 140207700 140207700 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018909.2 +1 reviewed p.R8S 0.001 132 0% 160 30.6% 1 100% benign(0) tolerated(0.67) neutral(0.003) NULL PCDHA6 56142 genome.wustl.edu 37 5 140209867 140209867 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018909.2 +1 reviewed p.A731T 0.060 56 0% 66 28.8% 2 50% benign(0) tolerated(0.4) neutral(0.016) NULL PCDHA8 56140 genome.wustl.edu 37 5 140222421 140222421 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018911.2 +1 reviewed p.S505 0.996 53 0% 44 31.8% 1 100% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA9 9752 genome.wustl.edu 37 5 140228891 140228891 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031857.1 +1 reviewed p.E271K 1.000 150 0% 204 22.5% 1 0% benign(0.086) deleterious(0) neutral(0.451) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA11 56138 genome.wustl.edu 37 5 140248752 140248752 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018902.3 +1 reviewed p.E22K 0.000 151 0% 171 30.4% 3 66.6% benign(0) tolerated(0.3) neutral(0.029) superfamily_Cadherin-like PCDHA12 56137 genome.wustl.edu 37 5 140255868 140255868 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018903.2 +1 reviewed p.E271K 1.000 88 0% 162 32.1% 0 - benign(0.085) deleterious(0) neutral(0.451) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA12 56137 genome.wustl.edu 37 5 140256572 140256572 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018903.2 +1 reviewed p.S505 1.000 56 1.8% 45 33.3% 2 0% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA12 56137 genome.wustl.edu 37 5 140257013 140257013 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018903.2 +1 reviewed p.K652N 0.802 83 0% 90 31.1% 5 80% probably_damaging(0.991) deleterious(0.01) deleterious(0.850) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA12 56137 genome.wustl.edu 37 5 140257130 140257130 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018903.2 +1 reviewed p.A691 0.000 46 0% 37 43.2% 2 0% - - - NULL PCDHAC1 56135 genome.wustl.edu 37 5 140306727 140306727 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018898.3 +1 reviewed p.E84K 1.000 72 0% 96 43.8% 3 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like PCDHAC2 56134 genome.wustl.edu 37 5 140348329 140348329 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018899.5 +1 reviewed p.V660L 0.996 68 0% 100 31% 0 - possibly_damaging(0.897) deleterious(0.01) deleterious(0.760) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHAC2 56134 genome.wustl.edu 37 5 140389360 140389360 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018899.5 +1 reviewed p.I954 1.000 76 0% 96 33.3% 17 35.2% - - - NULL PCDHB1 29930 genome.wustl.edu 37 5 140431556 140431556 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013340.2 +1 reviewed p.L167 0.576 40 0% 43 16.3% 0 - - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB2 56133 genome.wustl.edu 37 5 140474745 140474745 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018936.2 +1 reviewed p.R124Q 0.000 96 0% 129 34.9% 29 41.3% benign(0.021) tolerated(0.67) neutral(0.004) HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin PCDHB3 56132 genome.wustl.edu 37 5 140482357 140482357 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018937.2 +1 reviewed p.F708 0.000 91 0% 96 26% 6 16.6% - - - NULL PCDHB5 26167 genome.wustl.edu 37 5 140516147 140516147 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015669.2 +1 reviewed p.N377 0.427 123 0% 255 32.2% 1 0% - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB6 56130 genome.wustl.edu 37 5 140530309 140530309 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018939.2 +1 reviewed p.H157 0.022 68 0% 85 32.9% 0 - - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB6 56130 genome.wustl.edu 37 5 140530708 140530708 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018939.2 +1 reviewed p.F290 0.429 113 0% 236 33.9% 0 - - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB17 54661 genome.wustl.edu 37 5 140537160 140537160 + RNA SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NR_001280.1 +1 provisional NULL 0.999 113 0% 94 34% 0 - - - - - PCDHB7 56129 genome.wustl.edu 37 5 140554630 140554630 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018940.2 +1 reviewed p.S738 0.011 111 0.9% 126 32.5% 3 33.3% - - - NULL PCDHB8 56128 genome.wustl.edu 37 5 140559200 140559200 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019120.2 +1 reviewed p.E529K 0.949 145 0% 86 32.6% 17 35.2% benign(0.003) tolerated(0.19) neutral(0.050) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB16 57717 genome.wustl.edu 37 5 140562555 140562555 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020957.1 +1 reviewed p.K141Q 0.144 63 0% 74 39.2% 4 75% benign(0.085) tolerated(0.07) neutral(0.325) superfamily_Cadherin PCDHB16 57717 genome.wustl.edu 37 5 140564464 140564464 + Nonstop_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020957.1 +1 reviewed p.*777S 0.007 152 0% 186 38.2% 29 48.2% - - - NULL PCDHB10 56126 genome.wustl.edu 37 5 140572991 140572991 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018930.3 +1 reviewed p.R289Q 0.000 132 0% 175 34.9% 7 57.1% benign(0.011) tolerated(0.61) neutral(0.005) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB10 56126 genome.wustl.edu 37 5 140573562 140573562 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018930.3 +1 reviewed p.D479E 0.978 120 0% 87 21.8% 22 31.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB10 56126 genome.wustl.edu 37 5 140573649 140573649 + Silent SNP G G A rs61745573 byFrequency TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018930.3 +1 reviewed p.A508 0.743 157 0.6% 121 20.7% 11 0% - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB10 56126 genome.wustl.edu 37 5 140573707 140573707 + Missense_Mutation SNP G G A rs17844576 TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018930.3 +1 reviewed p.E528K 0.958 120 0% 117 22.2% 8 25% possibly_damaging(0.515) tolerated(0.2) neutral(0.222) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB11 56125 genome.wustl.edu 37 5 140579459 140579459 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018931.2 +1 reviewed p.E38* 1.000 193 0% 302 35.8% 1 0% - - - HMMPfam_Cadherin_2,superfamily_Cadherin PCDHB11 56125 genome.wustl.edu 37 5 140580245 140580245 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018931.2 +1 reviewed p.E300* 1.000 138 0% 183 26.8% 3 33.3% - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB12 56124 genome.wustl.edu 37 5 140588701 140588701 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018932.3 +1 reviewed p.C74 0.214 160 0% 199 31.2% 1 0% - - - HMMSmart_CA,HMMPfam_Cadherin_2,superfamily_Cadherin PCDHB12 56124 genome.wustl.edu 37 5 140589344 140589344 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018932.3 +1 reviewed p.R289C 0.019 161 0% 242 28.1% 2 0% benign(0.006) deleterious(0.04) neutral(0.349) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB12 56124 genome.wustl.edu 37 5 140590167 140590167 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018932.3 +1 reviewed p.Y563C 1.000 41 0% 27 33.3% 4 0% probably_damaging(0.994) deleterious(0) deleterious(0.897) superfamily_Cadherin PCDHB13 56123 genome.wustl.edu 37 5 140593790 140593790 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018933.2 +1 reviewed p.R32I 0.000 403 0% 581 23.9% 7 14.2% benign(0.001) tolerated(0.41) neutral(0.015) HMMPfam_Cadherin_2 PCDHB13 56123 genome.wustl.edu 37 5 140594526 140594526 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018933.2 +1 reviewed p.E277D 0.000 148 0% 249 36.5% 4 75% benign(0.002) tolerated(0.12) neutral(0.261) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin ENSG00000250800 0 genome.wustl.edu 37 5 140596118 140596118 + RNA SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000507840 -1 novel NULL 0.000 106 0% 153 35.9% 11 90.9% - - - - PCDHB14 56122 genome.wustl.edu 37 5 140603604 140603604 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018934.2 +1 reviewed p.S176Y 0.986 98 0% 217 30% 8 12.5% benign(0.003) deleterious(0.03) neutral(0.364) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB14 56122 genome.wustl.edu 37 5 140605233 140605233 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018934.2 +1 reviewed p.A719V 0.000 72 0% 52 19.2% 22 40.9% benign(0.043) tolerated(0.09) neutral(0.299) NULL ENSG00000251462 0 genome.wustl.edu 37 5 140620557 140620557 + RNA SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000503443 -1 known NULL 0.033 7 0.000 8 0.500 0 - - - - - ENSG00000251462 0 genome.wustl.edu 37 5 140621065 140621065 + RNA SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000503443 -1 known NULL 0.004 93 0% 70 40% 0 - - - - - PCDHB15 56121 genome.wustl.edu 37 5 140626087 140626087 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018935.2 +1 reviewed p.S314L 0.000 129 0% 204 34.8% 1 0% benign(0.258) tolerated(0.39) neutral(0.043) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin SLC25A2 83884 genome.wustl.edu 37 5 140683420 140683420 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031947.2 -1 reviewed p.P5T 0.003 43 0% 56 28.6% 0 - possibly_damaging(0.776) deleterious(0.03) deleterious(0.654) superfamily_Mitoch_carrier TAF7 6879 genome.wustl.edu 37 5 140698954 140698954 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005642.2 -1 reviewed p.R220W 1.000 276 0% 380 35% 102 38.2% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL PCDHGA1 56114 genome.wustl.edu 37 5 140710257 140710257 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018912.2 +1 reviewed p.K2N 0.023 118 0% 165 35.2% 0 - benign(0.025) tolerated(0.39) neutral(0.017) NULL PCDHGA1 56114 genome.wustl.edu 37 5 140710861 140710861 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018912.2 +1 reviewed p.E204* 0.741 34 0% 78 30.8% 2 50% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA1 56114 genome.wustl.edu 37 5 140712358 140712358 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018912.2 +1 reviewed p.V703I 0.615 135 0% 112 36.6% 5 80% benign(0.003) tolerated(0.27) neutral(0.034) NULL PCDHGA1 56114 genome.wustl.edu 37 5 140712490 140712490 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018912.2 +1 reviewed p.R747W 0.065 151 0% 228 35.1% 1 100% possibly_damaging(0.905) deleterious(0.02) deleterious(0.742) NULL PCDHGA2 56113 genome.wustl.edu 37 5 140720593 140720593 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018915.2 +1 reviewed p.N685 0.000 163 0% 143 32.9% 2 0% - - - NULL PCDHGA3 56112 genome.wustl.edu 37 5 140724612 140724612 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018916.3 +1 reviewed p.L338M 0.647 120 0% 190 38.9% 0 - benign(0.142) tolerated(0.06) neutral(0.335) HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like PCDHGA3 56112 genome.wustl.edu 37 5 140725254 140725254 + Missense_Mutation SNP G G A rs2879227 TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018916.3 +1 reviewed p.V552M 0.480 105 0% 138 29% 7 57.1% benign(0.43) deleterious(0.01) deleterious(0.546) HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like PCDHGB1 56104 genome.wustl.edu 37 5 140730136 140730136 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018922.2 +1 reviewed p.F103 0.658 103 0% 257 33.1% 2 0% - - - HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like PCDHGA4 56111 genome.wustl.edu 37 5 140735977 140735977 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018917.2 +1 reviewed p.L404 0.002 72 0% 153 37.3% 2 100% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGB2 56103 genome.wustl.edu 37 5 140740714 140740714 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018923.2 +1 reviewed p.L338I 0.039 108 0% 166 26.5% 3 0% benign(0.089) tolerated(0.24) neutral(0.044) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGB2 56103 genome.wustl.edu 37 5 140740951 140740951 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018923.2 +1 reviewed p.E417* 0.909 47 0% 53 18.9% 3 0% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGB2 56103 genome.wustl.edu 37 5 140741287 140741287 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018923.2 +1 reviewed p.E529K 0.868 24 0% 27 33.3% 2 50% benign(0.033) tolerated(0.18) neutral(0.058) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGB3 56102 genome.wustl.edu 37 5 140750021 140750021 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018924.2 +1 reviewed p.F20L 0.000 73 0% 74 32.4% 0 - - - - HMMSmart_SM00112 PCDHGB3 56102 genome.wustl.edu 37 5 140750174 140750174 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018924.2 +1 reviewed p.E71D 0.000 53 0% 84 29.8% 0 - - - - HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like PCDHGB3 56102 genome.wustl.edu 37 5 140751391 140751391 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018924.2 +1 reviewed p.S477L 0.000 26 0% 47 38.3% 2 100% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA6 56109 genome.wustl.edu 37 5 140754661 140754661 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018919.2 +1 reviewed p.I337 0.012 110 1.8% 137 27.7% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like PCDHGA6 56109 genome.wustl.edu 37 5 140755333 140755333 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018919.2 +1 reviewed p.E561D 0.636 97 0% 114 23.7% 4 50% possibly_damaging(0.893) deleterious(0.03) deleterious(0.716) superfamily_Cadherin-like PCDHGA6 56109 genome.wustl.edu 37 5 140755889 140755889 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018919.2 +1 reviewed p.R747W 0.986 173 0% 237 33.8% 3 66.6% possibly_damaging(0.502) deleterious(0.02) deleterious(0.550) NULL PCDHGA7 56108 genome.wustl.edu 37 5 140762610 140762610 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018920.2 +1 reviewed p.I48 0.998 42 0% 54 38.9% 3 33.3% - - - HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like PCDHGB4 8641 genome.wustl.edu 37 5 140768385 140768385 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003736.2 +1 reviewed p.E312* 0.000 89 0% 150 35.3% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGB4 8641 genome.wustl.edu 37 5 140769030 140769030 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003736.2 +1 reviewed p.E527K 0.035 30 0% 30 33.3% 1 100% benign(0.077) tolerated(0.28) neutral(0.037) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA8 9708 genome.wustl.edu 37 5 140774440 140774440 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032088.1 +1 reviewed p.S687L 0.013 54 0% 75 42.7% 2 100% benign(0.111) deleterious(0.02) neutral(0.392) NULL PCDHGA9 56107 genome.wustl.edu 37 5 140782954 140782954 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018921.2 +1 reviewed p.I145 0.002 55 0% 72 38.9% 0 - - - - superfamily_Cadherin-like PCDHGB6 56100 genome.wustl.edu 37 5 140789894 140789894 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018926.2 +1 reviewed p.L709M 0.100 307 0% 387 28.4% 13 46.1% possibly_damaging(0.769) tolerated(0.06) deleterious(0.608) NULL PCDHGA10 56106 genome.wustl.edu 37 5 140792886 140792886 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018913.2 +1 reviewed p.F48 0.101 75 0% 92 42.4% 1 100% - - - HMMPfam_Cadherin_2,superfamily_Cadherin-like PCDHGA10 56106 genome.wustl.edu 37 5 140794422 140794422 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018913.2 +1 reviewed p.N560 0.985 125 0% 184 31.5% 1 100% - - - HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like PCDHGB7 56099 genome.wustl.edu 37 5 140797856 140797856 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018927.2 +1 reviewed p.E144* 1.000 207 0% 418 38% 0 - - - - HMMPfam_Cadherin,superfamily_Cadherin-like PCDHGB7 56099 genome.wustl.edu 37 5 140799833 140799833 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018927.2 +1 reviewed p.L803I 0.000 52 0% 88 38.6% 2 0% benign(0.002) tolerated(0.47) neutral(0.011) NULL PCDHGC4 56098 genome.wustl.edu 37 5 140866101 140866101 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018928.2 +1 reviewed p.S454Y 0.201 64 0% 80 36.2% 0 - benign(0.021) tolerated(0.4) neutral(0.017) superfamily_Cadherin-like DIAPH1 1729 genome.wustl.edu 37 5 140962817 140962817 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005219.4 -1 reviewed p.L192F 0.999 158 0% 265 26.4% 16 31.2% possibly_damaging(0.905) tolerated(0.08) deleterious(0.659) HMMPfam_Drf_GBD RELL2 285613 genome.wustl.edu 37 5 141019837 141019837 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001130029.1 +1 validated p.S285I 1.000 104 0% 187 32.6% 9 77.7% benign(0.255) deleterious(0.01) neutral(0.432) NULL ARAP3 64411 genome.wustl.edu 37 5 141052192 141052192 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022481.5 -1 reviewed p.E438K 1.000 60 0% 67 43.3% 2 0% probably_damaging(0.991) deleterious(0.05) deleterious(0.789) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 ARAP3 64411 genome.wustl.edu 37 5 141052670 141052670 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022481.5 -1 reviewed p.T335P 1.000 115 0% 172 30.8% 1 0% benign(0.01) tolerated(0.28) neutral(0.032) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 KIAA0141 9812 genome.wustl.edu 37 5 141305053 141305053 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142603.1 +1 validated p.S75 0.001 85 0% 149 46.3% 22 36.3% - - - NULL PCDH12 51294 genome.wustl.edu 37 5 141336190 141336190 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016580.2 -1 reviewed p.T409 0.530 152 0% 340 35% 1 0% - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin RNF14 9604 genome.wustl.edu 37 5 141362946 141362946 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004290.3 +1 reviewed p.E355D 0.998 60 0% 183 31.1% 18 50% benign(0.023) tolerated(0.52) neutral(0.010) superfamily_RING/U-box ARHGAP26 23092 genome.wustl.edu 37 5 142283111 142283111 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015071.4 +1 reviewed p.N237H 1.000 56 0% 98 38.8% 4 25% probably_damaging(0.961) deleterious(0.02) deleterious(0.787) NULL ARHGAP26 23092 genome.wustl.edu 37 5 142437266 142437266 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015071.4 +1 reviewed p.E498* 1.000 110 0% 97 30.9% 2 0% - - - HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP ARHGAP26 23092 genome.wustl.edu 37 5 142587005 142587005 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015071.4 +1 reviewed p.D744G 1.000 250 0% 388 35.1% 0 - - - - superfamily_SH3-domain NR3C1 2908 genome.wustl.edu 37 5 142779770 142779770 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001024094.1 -1 reviewed p.P212H 1.000 109 0% 127 31.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GCR KCTD16 57528 genome.wustl.edu 37 5 143586509 143586509 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020768.3 +1 validated p.D78Y 1.000 142 0.7% 176 30.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_BTB,HMMPfam_K_tetra,superfamily_BTB/POZ_fold PRELID2 153768 genome.wustl.edu 37 5 145197494 145197494 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182960.2 -1 validated p.E123* 1.000 153 0.7% 150 39.3% 4 75% - - - HMMPfam_PRELI GRXCR2 643226 genome.wustl.edu 37 5 145246147 145246147 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080516.1 -1 provisional p.E161* 0.493 327 0% 332 31.6% 0 - - - - NULL PLAC8L1 153770 genome.wustl.edu 37 5 145483858 145483858 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001029869.1 -1 provisional p.S6N 0.980 151 0% 178 32.6% 0 - benign(0) tolerated(1) - NULL RBM27 54439 genome.wustl.edu 37 5 145603076 145603076 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018989.1 +1 validated p.E97* 1.000 68 0% 111 28.8% 0 - - - - superfamily_SSF101233 RBM27 54439 genome.wustl.edu 37 5 145634590 145634590 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018989.1 +1 validated p.R510I 1.000 94 0% 141 36.2% 1 100% probably_damaging(0.981) deleterious(0) deleterious(0.870) NULL RBM27 54439 genome.wustl.edu 37 5 145638139 145638139 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018989.1 +1 validated p.K574N 1.000 127 0% 263 32.7% 3 33.3% probably_damaging(0.98) deleterious(0) deleterious(0.869) NULL GPR151 134391 genome.wustl.edu 37 5 145895077 145895077 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_194251.2 -1 provisional p.S200 0.000 129 0% 165 34.5% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 PPP2R2B 5521 genome.wustl.edu 37 5 146077608 146077608 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_181676.2 -1 reviewed p.E93* 1.000 236 0% 184 29.3% 0 - - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_PR55_1,HMMPfam_PP2A_B_N JAKMIP2 9832 genome.wustl.edu 37 5 147040649 147040649 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014790.3 -1 provisional p.K163N 1.000 181 0% 217 29.5% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL JAKMIP2 9832 genome.wustl.edu 37 5 147040924 147040924 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014790.3 -1 provisional p.E72* 1.000 84 0% 99 28.3% 0 - - - - NULL SPINK5 11005 genome.wustl.edu 37 5 147473985 147473985 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001127698.1 +1 reviewed p.P245 0.378 198 0% 176 36.9% 1 100% - - - HMMSmart_SM00280,HMMPfam_Kazal_2,superfamily_Kazal-type serine protease inhibitors FBXO38 81545 genome.wustl.edu 37 5 147820041 147820041 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_205836.1 +1 validated p.L1075F 1.000 53 0% 57 36.8% 25 56% probably_damaging(0.959) deleterious(0.04) deleterious(0.752) NULL HTR4 3360 genome.wustl.edu 37 5 147900490 147900490 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001040172.2 -1 reviewed p.H182N 0.000 110 0% 83 26.5% 0 - benign(0.301) tolerated(0.32) neutral(0.117) HMMPfam_7tm_1,superfamily_SSF81321 HTR4 3360 genome.wustl.edu 37 5 147928402 147928402 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001040173.2 -1 reviewed p.S61Y 1.000 187 0% 268 34.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 SH3TC2 79628 genome.wustl.edu 37 5 148407738 148407738 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024577.3 -1 reviewed p.K519N 0.993 48 0% 56 33.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SH3TC2 79628 genome.wustl.edu 37 5 148407828 148407828 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024577.3 -1 reviewed p.F489L 0.894 40 0% 55 30.9% 0 - benign(0) tolerated(1) - NULL SH3TC2 79628 genome.wustl.edu 37 5 148417924 148417924 + Missense_Mutation SNP G G A rs151205080 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024577.3 -1 reviewed p.S312L 0.883 176 0% 148 30.4% 0 - benign(0.018) deleterious(0.04) neutral(0.349) HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain ABLIM3 22885 genome.wustl.edu 37 5 148610266 148610266 + Nonsense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014945.2 +1 validated p.L271* 1.000 197 0% 249 41.8% 1 0% - - - NULL ABLIM3 22885 genome.wustl.edu 37 5 148622066 148622066 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014945.2 +1 validated p.N439S 1.000 130 0% 220 30.5% 1 0% benign(0.002) tolerated(0.1) neutral(0.286) NULL AFAP1L1 134265 genome.wustl.edu 37 5 148699221 148699221 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152406.2 +1 validated p.A519V 1.000 120 0% 101 36.6% 3 0% probably_damaging(0.998) tolerated(0.12) deleterious(0.735) NULL CSNK1A1 1452 genome.wustl.edu 37 5 148891431 148891431 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001025105.1 -1 validated p.R229* 1.000 85 0% 114 28.9% 64 6.2% - - - superfamily_Kinase_like,HMMPfam_Pkinase ARHGEF37 389337 genome.wustl.edu 37 5 148996278 148996278 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001001669.2 +1 validated p.L203F 1.000 109 0.9% 210 41.4% 1 0% possibly_damaging(0.922) deleterious(0.03) deleterious(0.736) HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_DH-domain PPARGC1B 133522 genome.wustl.edu 37 5 149216482 149216482 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_133263.3 +1 reviewed p.E822* 0.627 44 0% 41 19.5% 0 - - - - NULL SLC26A2 1836 genome.wustl.edu 37 5 149360495 149360495 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000112.3 +1 reviewed p.E447* 1.000 178 0% 217 31.3% 2 0% - - - HMMPfam_Sulfate_transp TIGD6 81789 genome.wustl.edu 37 5 149375166 149375166 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030953.2 -1 validated p.R249Q 0.000 68 0% 104 38.5% 8 25% possibly_damaging(0.901) tolerated(0.49) neutral(0.367) HMMPfam_DDE TIGD6 81789 genome.wustl.edu 37 5 149375188 149375188 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030953.2 -1 validated p.H242N 0.955 70 0% 105 36.2% 9 44.4% benign(0.016) tolerated(0.78) neutral(0.002) HMMPfam_DDE SLC6A7 6534 genome.wustl.edu 37 5 149584133 149584133 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014228.3 +1 validated p.S457 0.929 114 0% 145 37.2% 0 - - - - HMMPfam_SNF SLC6A7 6534 genome.wustl.edu 37 5 149589093 149589093 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014228.3 +1 validated p.R609H 1.000 41 0% 87 27.6% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL ARSI 340075 genome.wustl.edu 37 5 149677374 149677374 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001012301.2 -1 validated p.Y371 0.599 17 0% 12 41.7% 1 0% - - - HMMPfam_Sulfatase,superfamily_Alkaline phosphatase-like NDST1 3340 genome.wustl.edu 37 5 149918790 149918790 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001543.4 +1 validated p.V480I 1.000 221 0% 425 28% 9 33.3% benign(0.012) deleterious(0.02) neutral(0.384) NULL NDST1 3340 genome.wustl.edu 37 5 149927803 149927803 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001543.4 +1 validated p.P723 0.161 56 0% 71 28.2% 17 29.4% - - - HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases SYNPO 11346 genome.wustl.edu 37 5 150028219 150028219 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007286.5 +1 validated p.T128A 0.000 117 0% 211 40.8% 6 0% benign(0.014) deleterious(0.02) neutral(0.384) NULL SYNPO 11346 genome.wustl.edu 37 5 150029313 150029313 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007286.5 +1 validated p.E492D 1.000 48 0% 44 38.6% 9 0% probably_damaging(0.973) tolerated(0.34) neutral(0.438) NULL C5orf62 85027 genome.wustl.edu 37 5 150158180 150158180 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032947.4 +1 validated p.E17K 0.000 30 0% 30 30% 1 100% - - - NULL IRGM 345611 genome.wustl.edu 37 5 150227846 150227846 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145805.1 +1 validated p.R54Q 0.000 123 0% 170 34.7% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_IIGP,superfamily_P-loop containing nucleoside triphosphate hydrolases ZNF300 91975 genome.wustl.edu 37 5 150276442 150276442 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_052860.2 -1 reviewed p.S120* 1.000 115 0% 75 28% 0 - - - - NULL TNIP1 10318 genome.wustl.edu 37 5 150444543 150444543 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006058.3 -1 validated p.K38N 1.000 191 0% 289 21.5% 24 37.5% possibly_damaging(0.619) tolerated(0.15) neutral(0.457) NULL ANXA6 309 genome.wustl.edu 37 5 150497329 150497329 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001155.3 -1 reviewed p.S503Y 1.000 117 0% 150 38.7% 75 5.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_Annexin,PatternScan_ANNEXIN,HMMPfam_Annexin,HMMSmart_ANX ANXA6 309 genome.wustl.edu 37 5 150507777 150507777 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001155.3 -1 reviewed p.K314N 1.000 117 0% 233 30.5% 60 11.6% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_Annexin,PatternScan_ANNEXIN,HMMPfam_Annexin,HMMSmart_ANX SLC36A3 285641 genome.wustl.edu 37 5 150663720 150663720 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145017.1 -1 validated p.L328M 1.000 80 0% 160 21.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Aa_trans SLC36A3 285641 genome.wustl.edu 37 5 150663725 150663725 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145017.1 -1 validated p.F326C 0.114 79 0% 161 32.9% 0 - possibly_damaging(0.492) tolerated(0.18) neutral(0.220) HMMPfam_Aa_trans FAT2 2196 genome.wustl.edu 37 5 150911472 150911472 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001447.2 -1 reviewed p.D3163N 1.000 32 0% 33 42.4% 0 - possibly_damaging(0.796) tolerated(0.54) neutral(0.306) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT2 2196 genome.wustl.edu 37 5 150914064 150914064 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001447.2 -1 reviewed p.P3111 0.001 56 0% 55 29.1% 0 - - - - HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT2 2196 genome.wustl.edu 37 5 150924259 150924259 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001447.2 -1 reviewed p.V2143 0.919 74 0% 92 37% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT2 2196 genome.wustl.edu 37 5 150925098 150925098 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001447.2 -1 reviewed p.D1864Y 0.996 109 0% 120 30.8% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMSmart_SM00112,superfamily_Cadherin-like FAT2 2196 genome.wustl.edu 37 5 150934120 150934120 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001447.2 -1 reviewed p.R1250C 1.000 101 0% 138 38.4% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Cadherin,superfamily_Cadherin-like FAT2 2196 genome.wustl.edu 37 5 150946096 150946096 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001447.2 -1 reviewed p.Q799H 1.000 197 0.5% 170 32.9% 0 - possibly_damaging(0.837) tolerated(0.1) deleterious(0.606) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FAT2 2196 genome.wustl.edu 37 5 150946818 150946818 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001447.2 -1 reviewed p.D559Y 1.000 69 0% 88 37.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00112,superfamily_Cadherin-like FAT2 2196 genome.wustl.edu 37 5 150947287 150947287 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001447.2 -1 reviewed p.E402D 0.998 166 0% 219 34.2% 0 - benign(0) tolerated(0.85) neutral(0.001) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like SPARC 6678 genome.wustl.edu 37 5 151052711 151052711 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003118.2 -1 provisional p.E63* 0.995 218 0% 358 30.4% 573 0% - - - NULL ATOX1 475 genome.wustl.edu 37 5 151125895 151125895 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004045.3 -1 reviewed p.G66 0.037 111 0.9% 179 35.8% 281 33% - - - superfamily_HMA heavy metal-associated domain GRIA1 2890 genome.wustl.edu 37 5 153056593 153056593 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000827.3 +1 reviewed p.A301T 1.000 109 0% 136 26.5% 0 - benign(0) tolerated(0.32) neutral(0.024) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I FAM114A2 10827 genome.wustl.edu 37 5 153382524 153382524 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018691.2 -1 validated p.R333S 1.000 311 0% 372 30.4% 4 50% possibly_damaging(0.595) tolerated(0.51) neutral(0.215) NULL FAM114A2 10827 genome.wustl.edu 37 5 153406826 153406826 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018691.2 -1 validated p.K233N 1.000 289 0% 197 34% 2 0% benign(0.179) tolerated(0.08) neutral(0.317) HMMPfam_DUF719 HAND1 9421 genome.wustl.edu 37 5 153857045 153857045 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004821.2 -1 reviewed p.S175N 1.000 90 0% 158 29.1% 0 - benign(0.002) tolerated(0.32) neutral(0.024) NULL HAND1 9421 genome.wustl.edu 37 5 153857232 153857232 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004821.2 -1 reviewed p.A113T 1.000 124 0% 186 32.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HLH,HMMSmart_HLH,superfamily_HLH_basic LARP1 23367 genome.wustl.edu 37 5 154174769 154174769 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015315.3 +1 validated p.D346Y 1.000 206 0% 376 30.6% 28 35.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_La,HMMSmart_LA,superfamily_SSF46785 LARP1 23367 genome.wustl.edu 37 5 154188092 154188092 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015315.3 +1 validated p.R847 0.353 69 0% 147 32.7% 44 43.1% - - - HMMSmart_DM15 CNOT8 9337 genome.wustl.edu 37 5 154252115 154252115 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004779.4 +1 provisional p.E211D 1.000 298 0% 619 21.8% 40 35% benign(0.183) tolerated(0.7) neutral(0.019) HMMPfam_CAF1,superfamily_Ribonuclease H-like GEMIN5 25929 genome.wustl.edu 37 5 154287276 154287276 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015465.3 -1 validated p.S757L 0.000 337 0% 603 35.2% 5 60% benign(0) tolerated(0.23) neutral(0.042) NULL HAVCR2 84868 genome.wustl.edu 37 5 156533766 156533766 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032782.3 -1 validated p.R89H 0.000 127 0% 213 31.5% 3 0% benign(0.003) tolerated(0.62) neutral(0.004) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin MED7 9443 genome.wustl.edu 37 5 156566386 156566386 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001100816.1 -1 reviewed p.K19N 1.000 90 0% 176 30.7% 13 30.7% benign(0.003) tolerated(0.6) neutral(0.004) HMMPfam_MED7 FAM71B 153745 genome.wustl.edu 37 5 156590549 156590549 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_130899.2 -1 validated p.G243R 0.000 80 0% 103 35.9% 0 - benign(0) tolerated(0.51) neutral(0.009) NULL ITK 3702 genome.wustl.edu 37 5 156608039 156608039 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005546.3 +1 reviewed p.Q17H 0.986 111 0% 135 37.8% 0 - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like ITK 3702 genome.wustl.edu 37 5 156608060 156608060 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005546.3 +1 reviewed p.S24 0.020 120 0% 144 30.6% 0 - - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like ITK 3702 genome.wustl.edu 37 5 156638376 156638376 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005546.3 +1 reviewed p.E108* 1.000 69 0% 100 28% 2 0% - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like ITK 3702 genome.wustl.edu 37 5 156649963 156649963 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005546.3 +1 reviewed p.E196K 0.997 152 0% 228 31.6% 0 - possibly_damaging(0.648) deleterious(0.02) deleterious(0.611) HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain CYFIP2 26999 genome.wustl.edu 37 5 156734839 156734839 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001037332.2 +1 validated p.R289I 1.000 140 0% 215 27.4% 0 - probably_damaging(0.981) deleterious(0) deleterious(0.870) HMMPfam_FragX_IP CYFIP2 26999 genome.wustl.edu 37 5 156747679 156747679 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001037332.2 +1 validated p.R514* 1.000 77 0% 159 30.8% 2 0% - - - HMMPfam_FragX_IP CYFIP2 26999 genome.wustl.edu 37 5 156757773 156757773 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001037332.2 +1 validated p.R727Q 1.000 230 0% 396 35.1% 4 0% probably_damaging(0.988) tolerated(0.07) deleterious(0.756) HMMPfam_FragX_IP CYFIP2 26999 genome.wustl.edu 37 5 156766139 156766139 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001037332.2 +1 validated p.F820 0.981 133 0.8% 201 33.8% 3 33.3% - - - HMMPfam_FragX_IP ADAM19 8728 genome.wustl.edu 37 5 156918885 156918885 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033274.2 -1 reviewed p.F648L 0.994 126 0.8% 211 32.7% 5 0% possibly_damaging(0.766) tolerated(0.67) neutral(0.286) NULL ADAM19 8728 genome.wustl.edu 37 5 156929875 156929875 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033274.2 -1 reviewed p.G415V 1.000 337 0% 720 30% 4 0% probably_damaging(1) tolerated(0.1) deleterious(0.786) NULL SOX30 11063 genome.wustl.edu 37 5 157073794 157073794 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178424.1 -1 reviewed p.R413Q 1.000 127 0% 218 28% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) superfamily_HMG-box LSM11 134353 genome.wustl.edu 37 5 157182234 157182234 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173491.2 +1 provisional p.R349* 1.000 61 1.6% 113 35.4% 4 0% - - - HMMPfam_LSM,superfamily_Sm_like_riboprot EBF1 1879 genome.wustl.edu 37 5 158126149 158126149 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024007.3 -1 validated p.A582 1.000 221 0% 223 30% 3 0% - - - NULL RNF145 153830 genome.wustl.edu 37 5 158603671 158603671 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144726.1 -1 provisional p.L225R 1.000 222 0% 217 32.7% 45 35.5% probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL PWWP2A 114825 genome.wustl.edu 37 5 159505169 159505169 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_052927.2 -1 validated p.R559I 1.000 139 0% 224 32.6% 2 0% unknown(0) - - NULL C1QTNF2 114898 genome.wustl.edu 37 5 159776265 159776265 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031908.4 -1 validated p.Q301H 1.000 83 0% 113 35.4% 2 0% probably_damaging(0.999) tolerated(0.5) deleterious(0.500) HMMPfam_C1q,HMMSmart_SM00110,superfamily_TNF-like C5orf54 63920 genome.wustl.edu 37 5 159821052 159821052 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022090.3 -1 validated p.I482 0.987 89 0% 115 37.4% 6 50% - - - NULL C5orf54 63920 genome.wustl.edu 37 5 159821208 159821208 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022090.3 -1 validated p.L430 1.000 77 0% 76 39.5% 6 16.6% - - - NULL ATP10B 23120 genome.wustl.edu 37 5 160025834 160025834 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025153.2 -1 validated p.I1169 0.972 137 0% 196 27.6% 0 - - - - NULL ATP10B 23120 genome.wustl.edu 37 5 160025858 160025858 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025153.2 -1 validated p.V1161 1.000 139 0% 208 33.7% 0 - - - - NULL ATP10B 23120 genome.wustl.edu 37 5 160061419 160061419 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025153.2 -1 validated p.N441 1.000 111 0% 113 26.5% 0 - - - - superfamily_HAD-like GABRB2 2561 genome.wustl.edu 37 5 160753385 160753385 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021911.2 -1 reviewed p.S394Y 1.000 183 0% 208 27.9% 0 - unknown(0) deleterious(0.01) - HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM GABRB2 2561 genome.wustl.edu 37 5 160886834 160886834 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021911.2 -1 reviewed p.M85R 1.000 95 0% 87 34.5% 0 - probably_damaging(0.985) deleterious(0) deleterious(0.877) HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD GABRB2 2561 genome.wustl.edu 37 5 160972297 160972297 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021911.2 -1 reviewed p.P58H 1.000 107 0% 100 36% 0 - benign(0.096) deleterious(0.02) neutral(0.390) HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD GABRA6 2559 genome.wustl.edu 37 5 161116260 161116260 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000811.2 +1 reviewed p.R149 1.000 313 0% 362 30.4% 0 - - - - HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like GABRA6 2559 genome.wustl.edu 37 5 161117343 161117343 + Silent SNP A A T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000811.2 +1 reviewed p.P270 0.084 163 0% 182 26.4% 0 - - - - HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore GABRA1 2554 genome.wustl.edu 37 5 161317999 161317999 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000806.5 +1 reviewed p.L267I 1.000 242 0% 212 28.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM GABRA1 2554 genome.wustl.edu 37 5 161318045 161318045 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000806.5 +1 reviewed p.R282I 1.000 208 0% 200 31% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM GABRG2 2566 genome.wustl.edu 37 5 161530954 161530954 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198903.2 +1 reviewed p.D271N 1.000 290 0% 346 32.4% 0 - probably_damaging(0.986) tolerated(0.21) deleterious(0.478) HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like GABRG2 2566 genome.wustl.edu 37 5 161569172 161569172 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198903.2 +1 reviewed p.D298Y 1.000 321 0.3% 428 34.8% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like CCNG1 900 genome.wustl.edu 37 5 162868236 162868236 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004060.3 +1 reviewed p.K139N 1.000 180 0% 317 30.6% 36 44.4% possibly_damaging(0.653) deleterious(0.01) deleterious(0.635) HMMSmart_SM00385,HMMPfam_Cyclin_N,superfamily_Cyclin-like HMMR 3161 genome.wustl.edu 37 5 162894731 162894731 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142556.1 +1 reviewed p.D84Y 1.000 119 0% 155 27.7% 1 0% probably_damaging(0.97) deleterious(0.01) deleterious(0.818) NULL MAT2B 27430 genome.wustl.edu 37 5 162943748 162943748 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000421814 +1 known p.E251K 0.000 78 1.3% 120 29.2% 1 0% unknown(0) - - HMMPfam_RmlD_sub_bind MAT2B 27430 genome.wustl.edu 37 5 162945229 162945229 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013283.3 +1 reviewed p.R289C 0.996 131 0% 179 34.6% 87 35.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RmlD_sub_bind,superfamily_NAD(P)-binding Rossmann-fold domains ENSG00000229119 0 genome.wustl.edu 37 5 165809371 165809371 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000449646 +1 known p.H21R 1.000 67 0% 77 31.2% 5093 0% - - - HMMPfam_Ribosomal_60s ODZ2 57451 genome.wustl.edu 37 5 166802359 166802359 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001122679.1 +1 inferred p.A128D 1.000 70 0% 59 33.9% 0 - possibly_damaging(0.813) deleterious(0) deleterious(0.752) HMMPfam_Ten_N ODZ2 57451 genome.wustl.edu 37 5 167525034 167525034 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001122679.1 +1 inferred p.S572* 1.000 261 0% 401 33.2% 0 - - - - superfamily_EGF/Laminin ODZ2 57451 genome.wustl.edu 37 5 167671470 167671470 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001122679.1 +1 inferred p.R1847W 0.999 94 0% 144 38.9% 0 - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) superfamily_Concanavalin A-like lectins/glucanases ODZ2 57451 genome.wustl.edu 37 5 167674406 167674406 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001122679.1 +1 inferred p.F2145 0.980 145 0% 314 39.2% 0 - - - - superfamily_Concanavalin A-like lectins/glucanases ODZ2 57451 genome.wustl.edu 37 5 167689108 167689108 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001122679.1 +1 inferred p.L2531 1.000 68 0% 112 32.1% 0 - - - - NULL ODZ2 57451 genome.wustl.edu 37 5 167689475 167689475 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001122679.1 +1 inferred p.T2653N 1.000 31 0% 49 38.8% 0 - probably_damaging(0.978) tolerated(0.08) deleterious(0.720) NULL WWC1 23286 genome.wustl.edu 37 5 167882370 167882370 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015238.2 +1 reviewed p.E890* 1.000 98 0% 147 34% 18 27.7% - - - NULL RARS 5917 genome.wustl.edu 37 5 167915736 167915736 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002887.3 +1 reviewed p.R59* 0.183 107 0% 120 32.5% 14 7.1% - - - superfamily_Arginyl-tRNA synthetase (ArgRS) N-terminal 'additional' domain RARS 5917 genome.wustl.edu 37 5 167919725 167919725 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002887.3 +1 reviewed p.Q81R 1.000 132 0% 196 34.7% 16 12.5% benign(0.418) tolerated(0.3) neutral(0.164) HMMPfam_Arg_tRNA_synt_N,superfamily_Arginyl-tRNA synthetase (ArgRS) N-terminal 'additional' domain SLIT3 6586 genome.wustl.edu 37 5 168271610 168271610 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003062.2 -1 validated p.A179V 1.000 198 0% 219 31.1% 2 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like CCDC99 54908 genome.wustl.edu 37 5 169028352 169028352 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017785.4 +1 validated p.D465N 0.000 155 0% 157 31.8% 14 57.1% benign(0.009) tolerated(0.53) neutral(0.008) NULL DOCK2 1794 genome.wustl.edu 37 5 169081456 169081456 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004946.2 +1 validated p.I31 0.919 69 0% 94 29.8% 0 - - - - HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_SH3_2 DOCK2 1794 genome.wustl.edu 37 5 169127065 169127065 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004946.2 +1 validated p.R394C 1.000 87 0% 88 31.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL DOCK2 1794 genome.wustl.edu 37 5 169174500 169174500 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004946.2 +1 validated p.L790I 1.000 156 0% 139 32.4% 1 0% benign(0.01) tolerated(0.45) neutral(0.013) NULL FAM196B 100131897 genome.wustl.edu 37 5 169291446 169291446 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001129891.1 -1 predicted p.R480Q 1.000 140 0% 149 24.2% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL FAM196B 100131897 genome.wustl.edu 37 5 169310038 169310038 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001129891.1 -1 predicted p.D289Y 0.937 165 0% 232 31% 0 - probably_damaging(0.962) deleterious(0) deleterious(0.850) NULL DOCK2 1794 genome.wustl.edu 37 5 169494544 169494544 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004946.2 +1 validated p.E1500* 1.000 231 0% 332 31.9% 2 0% - - - NULL DOCK2 1794 genome.wustl.edu 37 5 169506113 169506113 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004946.2 +1 validated p.A1710V 0.962 90 0% 202 33.7% 2 0% benign(0) tolerated(0.36) neutral(0.020) NULL KCNIP1 30820 genome.wustl.edu 37 5 170148863 170148863 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001034837.1 +1 reviewed p.F106V 1.000 371 0% 481 33.7% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00054,superfamily_EF-hand KCNIP1 30820 genome.wustl.edu 37 5 170160858 170160858 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001034837.1 +1 reviewed p.D198Y 1.000 256 0.4% 294 19.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00054,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_EF-hand GABRP 2568 genome.wustl.edu 37 5 170239056 170239056 + Missense_Mutation SNP A A T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014211.2 +1 reviewed p.I373F 1.000 178 0% 244 26.2% 0 - benign(0.025) tolerated(0.78) neutral(0.002) superfamily_Neurotransmitter-gated ion-channel transmembrane pore RANBP17 64901 genome.wustl.edu 37 5 170395287 170395287 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022897.2 +1 provisional p.R539Q 0.026 220 0% 143 36.4% 1 0% benign(0.003) tolerated(0.56) neutral(0.006) NULL STK10 6793 genome.wustl.edu 37 5 171520793 171520793 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005990.3 -1 reviewed p.P393S 0.001 68 0% 111 38.7% 6 16.6% benign(0) tolerated(0.66) neutral(0.003) NULL EFCAB9 285588 genome.wustl.edu 37 5 171626397 171626397 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000398186 +1 known p.F49L 0.995 81 0% 211 28.4% 0 - possibly_damaging(0.942) tolerated(0.15) deleterious(0.628) superfamily_SSF47473 STC2 8614 genome.wustl.edu 37 5 172752930 172752930 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003714.2 -1 reviewed p.R79W 1.000 205 0% 288 31.9% 37 54% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_Stanniocalcin STC2 8614 genome.wustl.edu 37 5 172752952 172752952 + Silent SNP G G A rs147198518 TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003714.2 -1 reviewed p.F71 1.000 177 0% 275 38.2% 26 50% - - - HMMPfam_Stanniocalcin C5orf47 133491 genome.wustl.edu 37 5 173416305 173416305 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001144954.1 +1 validated p.A13 0.351 24 0% 16 43.8% 0 - - - - NULL C5orf47 133491 genome.wustl.edu 37 5 173425231 173425231 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001144954.1 +1 validated p.K134T 0.949 87 0% 82 34.1% 0 - probably_damaging(0.997) tolerated(0.34) deleterious(0.489) NULL LOC100127922 100127922 genome.wustl.edu 37 5 173988785 173988785 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002342573.1 +1 model p.D47N 0.632 9 0.000 27 0.444 2 0% - - - superfamily_Ubiquitin-like ENSG00000248596 0 genome.wustl.edu 37 5 175602216 175602216 + Splice_Site SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000508056 -1 known NULL 0.003 5 0.000 5 0.800 0 - - - - - C5orf25 375484 genome.wustl.edu 37 5 175763757 175763757 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198567.4 +1 validated p.L302M 0.967 157 0% 236 40.3% 4 50% possibly_damaging(0.926) deleterious(0) deleterious(0.819) NULL ARL10 285598 genome.wustl.edu 37 5 175793400 175793400 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173664.4 +1 validated p.D67 0.004 31 0% 56 35.7% 1 0% - - - HMMPfam_Arf,superfamily_SSF52540 SNCB 6620 genome.wustl.edu 37 5 176048218 176048218 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001001502.1 -1 reviewed p.P123 0.941 103 0% 149 32.9% 0 - - - - HMMPfam_Synuclein UNC5A 90249 genome.wustl.edu 37 5 176305322 176305322 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_133369.2 +1 validated p.Y649* 1.000 80 0% 84 38.1% 1 0% - - - NULL HK3 3101 genome.wustl.edu 37 5 176318107 176318107 + Silent SNP C C G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002115.2 -1 reviewed p.G115 0.966 52 0% 64 40.6% 2 0% - - - HMMPfam_Hexokinase_1,superfamily_SSF53067 UIMC1 51720 genome.wustl.edu 37 5 176335689 176335689 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016290.3 -1 provisional p.E561D 1.000 91 0% 116 31% 32 28.1% probably_damaging(0.993) deleterious(0) deleterious(0.895) NULL UIMC1 51720 genome.wustl.edu 37 5 176395581 176395581 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016290.3 -1 provisional p.E392G 1.000 91 0% 157 36.3% 10 20% probably_damaging(0.98) deleterious(0.03) deleterious(0.788) NULL UIMC1 51720 genome.wustl.edu 37 5 176395609 176395609 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016290.3 -1 provisional p.S383R 0.998 101 0% 209 30.6% 9 88.8% benign(0.157) tolerated(0.12) neutral(0.275) NULL NSD1 64324 genome.wustl.edu 37 5 176638500 176638500 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022455.4 +1 reviewed p.F1034V 0.989 69 0% 175 41.7% 7 14.2% benign(0.005) deleterious(0.01) neutral(0.406) NULL NSD1 64324 genome.wustl.edu 37 5 176709555 176709555 + Silent SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022455.4 +1 reviewed p.T1994 0.982 186 0% 315 35.2% 8 12.5% - - - HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain RAB24 53917 genome.wustl.edu 37 5 176729476 176729476 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001031677.2 -1 validated p.G119S 1.000 110 0% 176 37.5% 81 41.9% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540 GRK6 2870 genome.wustl.edu 37 5 176860608 176860608 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002082.3 +1 reviewed p.K223N 1.000 80 0% 204 39.2% 35 34.2% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_S_TKc,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase PROP1 5626 genome.wustl.edu 37 5 177422907 177422907 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006261.4 -1 reviewed p.E10K 0.001 89 0% 94 38.3% 0 - benign(0.014) tolerated(0.18) neutral(0.057) NULL AGXT2L2 85007 genome.wustl.edu 37 5 177642392 177642392 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153373.2 -1 validated p.V323I 0.982 39 0% 44 29.5% 5 20% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Aminotran_3,superfamily_PLP-dependent transferases CLK4 57396 genome.wustl.edu 37 5 178045558 178045558 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020666.2 -1 reviewed p.S128L 1.000 131 0% 213 30.5% 9 11.1% possibly_damaging(0.679) tolerated(0.11) deleterious(0.514) NULL ZNF354A 6940 genome.wustl.edu 37 5 178139258 178139258 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005649.2 -1 validated p.R541* 0.174 241 0% 364 31.6% 12 41.6% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF354B 117608 genome.wustl.edu 37 5 178311278 178311278 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_058230.2 +1 validated p.D609N 0.000 49 0% 53 28.3% 12 33.3% benign(0) tolerated(0.75) neutral(0.002) NULL ZFP2 80108 genome.wustl.edu 37 5 178358901 178358901 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030613.2 +1 provisional p.H196R 0.036 78 0% 108 33.3% 0 - benign(0) tolerated(0.35) neutral(0.021) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZFP2 80108 genome.wustl.edu 37 5 178359302 178359302 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030613.2 +1 provisional p.E330K 0.950 107 0.9% 147 20.4% 1 0% benign(0.003) tolerated(0.09) neutral(0.296) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF454 285676 genome.wustl.edu 37 5 178392194 178392194 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182594.2 +1 validated p.Q263H 1.000 65 0% 108 44.4% 0 - possibly_damaging(0.936) deleterious(0.03) deleterious(0.746) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers GRM6 2916 genome.wustl.edu 37 5 178417669 178417669 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000843.3 -1 reviewed p.K312N 1.000 39 2.6% 23 34.8% 0 - probably_damaging(0.995) tolerated(0.16) deleterious(0.517) HMMPfam_ANF_receptor,superfamily_SSF53822 ZNF879 345462 genome.wustl.edu 37 5 178460042 178460042 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001136116.1 +1 provisional p.I365L 0.911 70 0% 110 33.6% 0 - benign(0.138) deleterious(0.03) neutral(0.376) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF354C 30832 genome.wustl.edu 37 5 178506419 178506419 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014594.1 +1 provisional p.K329T 0.739 116 0% 159 30.8% 0 - probably_damaging(0.994) tolerated(0.34) deleterious(0.475) HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 RUFY1 80230 genome.wustl.edu 37 5 179020623 179020623 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025158.3 +1 validated p.L464V 0.890 113 0% 235 25.5% 33 33.3% benign(0.037) tolerated(0.18) neutral(0.058) NULL ENSG00000228259 0 genome.wustl.edu 37 5 179079080 179079080 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000425471 +1 known p.C188Y 0.001 25 0% 39 23.1% 0 - unknown(0) tolerated(0.32) - NULL LOC729595 729595 genome.wustl.edu 37 5 179121497 179121497 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_001130734.2 +1 model p.S100 0.985 6 0.000 16 0.250 1 0% - - - HMMPfam_HMG_box,HMMSmart_SM00398,superfamily_HMG-box MAML1 9794 genome.wustl.edu 37 5 179193437 179193437 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014757.4 +1 reviewed p.R476W 0.949 59 0% 116 38.8% 7 57.1% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL TBC1D9B 23061 genome.wustl.edu 37 5 179302027 179302027 + Silent SNP G G A rs140015158 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198868.2 -1 validated p.I687 0.202 49 0% 78 42.3% 37 51.3% - - - HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p MAPK9 5601 genome.wustl.edu 37 5 179663507 179663507 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002752.4 -1 reviewed p.N384 1.000 98 0% 198 35.9% 33 48.4% - - - NULL ENSG00000245787 0 genome.wustl.edu 37 5 180275750 180275750 + RNA SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000499434 +1 novel NULL 0.058 78 0% 97 33% 18 66.6% - - - - ZFP62 643836 genome.wustl.edu 37 5 180276362 180276362 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152283.4 -1 validated p.F651L 0.999 179 0% 196 30.1% 12 41.6% probably_damaging(0.988) tolerated(0.63) neutral(0.441) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers BTNL8 79908 genome.wustl.edu 37 5 180338455 180338455 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001040462.2 +1 validated p.G172* 0.000 157 0% 189 36% 0 - - - - HMMSmart_SM00409,superfamily_Immunoglobulin BTNL3 10917 genome.wustl.edu 37 5 180431744 180431744 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_197975.1 +1 validated p.D282Y 0.028 205 0% 306 34.6% 0 - benign(0) tolerated(0.08) neutral(0.300) NULL BTNL9 153579 genome.wustl.edu 37 5 180475212 180475212 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152547.4 +1 validated p.G132V 0.070 52 0% 45 37.8% 1 0% probably_damaging(1) tolerated(0.5) deleterious(0.510) HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin OR2V1 26693 genome.wustl.edu 37 5 180552190 180552190 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000329365 -1 known p.A39T 0.212 201 0.5% 282 32.3% 0 - benign(0.201) deleterious(0.03) neutral(0.384) superfamily_SSF81321 OR2V2 285659 genome.wustl.edu 37 5 180582241 180582241 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_206880.1 +1 provisional p.I100T 0.002 223 0.4% 348 32.5% 0 - benign(0.001) tolerated(0.67) neutral(0.003) HMMPfam_7tm_1,superfamily_SSF81321 GNB2L1 10399 genome.wustl.edu 37 5 180666574 180666574 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006098.4 -1 validated p.S146R 1.000 56 0% 81 34.6% 3602 42.2% benign(0.059) deleterious(0.02) neutral(0.387) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 EXOC2 55770 genome.wustl.edu 37 6 637805 637805 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018303.4 -1 reviewed p.R5Q 0.999 87 0% 113 41.6% 6 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Ig_E-set FOXC1 2296 genome.wustl.edu 37 6 1611149 1611149 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001453.2 +1 reviewed p.D157Y 1.000 78 0% 99 33.3% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Fork_head,HMMSmart_FH,superfamily_SSF46785 WRNIP1 56897 genome.wustl.edu 37 6 2770372 2770372 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020135.2 +1 reviewed p.V345M 1.000 108 0% 114 32.5% 34 29.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00382,HMMPfam_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases SERPINB6 5269 genome.wustl.edu 37 6 2955838 2955838 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004568.4 -1 validated p.E78K 0.399 60 0% 65 36.9% 21 4.7% benign(0.007) tolerated(0.5) neutral(0.010) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin PXDC1 221749 genome.wustl.edu 37 6 3737397 3737397 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_183373.3 -1 validated p.E128K 1.000 229 0% 381 34.1% 10 0% probably_damaging(0.987) tolerated(0.25) deleterious(0.473) superfamily_PX PRPF4B 8899 genome.wustl.edu 37 6 4037746 4037746 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003913.4 +1 reviewed p.R452C 1.000 109 0% 181 32% 11 63.6% unknown(0) tolerated(0.05) - NULL FAM217A 222826 genome.wustl.edu 37 6 4068981 4068981 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173563.1 -1 predicted p.S492 0.048 168 0% 207 32.4% 0 - - - - NULL CDYL 9425 genome.wustl.edu 37 6 4716006 4716006 + RNA SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NR_026590.1 +1 reviewed NULL 0.003 75 0% 132 25% 0 - - - - - CDYL 9425 genome.wustl.edu 37 6 4954458 4954458 + RNA SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NR_026590.1 +1 reviewed NULL 1.000 21 0% 22 36.4% 10 30% - - - - F13A1 2162 genome.wustl.edu 37 6 6174837 6174837 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000129.3 -1 reviewed p.D575N 0.000 305 0% 556 29.1% 1 0% benign(0) tolerated(0.32) neutral(0.024) HMMPfam_Transglut_C,superfamily_Transglut_C F13A1 2162 genome.wustl.edu 37 6 6175063 6175063 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000129.3 -1 reviewed p.L499 1.000 201 0% 339 38.6% 0 - - - - superfamily_SSF54001 CAGE1 285782 genome.wustl.edu 37 6 7356338 7356338 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000502583 -1 known p.E740* 0.984 510 0.2% 724 31.1% 0 - - - - NULL CAGE1 285782 genome.wustl.edu 37 6 7373751 7373751 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_205864.2 -1 validated p.S298F 0.001 264 0% 452 33.4% 0 - possibly_damaging(0.722) deleterious(0.01) deleterious(0.667) NULL RIOK1 83732 genome.wustl.edu 37 6 7395353 7395353 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031480.2 +1 reviewed p.K115T 1.000 105 0% 169 33.7% 3 33.3% possibly_damaging(0.95) deleterious(0.01) deleterious(0.799) NULL DSP 1832 genome.wustl.edu 37 6 7559485 7559485 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004415.2 +1 reviewed p.R150Q 1.000 126 0% 131 32.8% 3 0% probably_damaging(0.997) tolerated(0.34) deleterious(0.489) superfamily_Spectrin repeat DSP 1832 genome.wustl.edu 37 6 7574469 7574469 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004415.2 +1 reviewed p.D761Y 1.000 147 0% 199 29.1% 7 0% possibly_damaging(0.66) deleterious(0.02) deleterious(0.616) superfamily_Prefoldin DSP 1832 genome.wustl.edu 37 6 7579739 7579739 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004415.2 +1 reviewed p.E1106* 0.992 128 0% 162 31.5% 7 0% - - - NULL DSP 1832 genome.wustl.edu 37 6 7583974 7583974 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004415.2 +1 reviewed p.R2160Q 0.988 91 0% 97 19.6% 7 42.8% possibly_damaging(0.883) tolerated(0.55) neutral(0.352) HMMPfam_Plectin,superfamily_Plakin repeat DSP 1832 genome.wustl.edu 37 6 7584331 7584331 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004415.2 +1 reviewed p.K2279T 1.000 158 0% 227 35.7% 28 7.1% benign(0.36) deleterious(0) deleterious(0.559) HMMPfam_Plectin,HMMSmart_SM00250,superfamily_Plakin repeat SNRNP48 154007 genome.wustl.edu 37 6 7594382 7594382 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152551.3 +1 validated p.S107 0.292 92 0% 66 30.3% 3 33.3% - - - NULL TXNDC5 81567 genome.wustl.edu 37 6 7884593 7884593 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030810.2 -1 reviewed p.S392L 1.000 146 0% 193 26.4% 359 46.2% benign(0.385) tolerated(0.07) neutral(0.442) superfamily_Thiordxn-like_fd,HMMPfam_Thioredoxin MUTED 63915 genome.wustl.edu 37 6 8062847 8062847 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_201280.1 -1 reviewed p.L39I 1.000 87 0% 93 23.7% 1 0% benign(0.196) tolerated(0.86) neutral(0.019) NULL SLC35B3 51000 genome.wustl.edu 37 6 8428132 8428132 + Nonstop_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000426876 -1 known p.*219E 0.000 66 0% 56 35.7% 1 0% - - - NULL GCNT2 2651 genome.wustl.edu 37 6 10556851 10556851 + Missense_Mutation SNP G G T rs55798487 TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001491.2 +1 reviewed p.M65I 0.000 117 0% 170 30.6% 1 100% benign(0) tolerated(0.32) neutral(0.024) NULL PAK1IP1 55003 genome.wustl.edu 37 6 10709596 10709596 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017906.2 +1 validated p.E364* 0.000 90 0% 207 32.4% 35 37.1% - - - superfamily_WD40_like MAK 4117 genome.wustl.edu 37 6 10770352 10770352 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005906.3 -1 reviewed p.T570M 0.002 147 0% 313 37.1% 3 0% possibly_damaging(0.714) deleterious(0.01) deleterious(0.663) NULL SYCP2L 221711 genome.wustl.edu 37 6 10935314 10935314 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001040274.2 +1 validated p.E569D 0.090 152 0.7% 208 36.1% 7 57.1% benign(0.033) tolerated(0.46) neutral(0.013) NULL ELOVL2 54898 genome.wustl.edu 37 6 10989947 10989947 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017770.3 -1 validated p.F252V 1.000 101 0% 161 42.9% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ELO ELOVL2 54898 genome.wustl.edu 37 6 10990005 10990005 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017770.3 -1 validated p.F232 0.306 98 0% 139 30.9% 0 - - - - HMMPfam_ELO ELOVL2 54898 genome.wustl.edu 37 6 11005684 11005684 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017770.3 -1 validated p.R59I 1.000 114 0% 175 37.7% 0 - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMPfam_ELO HIVEP1 3096 genome.wustl.edu 37 6 12120300 12120300 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002114.2 +1 validated p.S91L 0.001 175 0% 238 31.1% 0 - benign(0.184) deleterious(0.03) neutral(0.382) NULL HIVEP1 3096 genome.wustl.edu 37 6 12121985 12121985 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002114.2 +1 validated p.D653N 0.998 71 0% 88 33% 0 - probably_damaging(0.992) deleterious(0.02) deleterious(0.831) NULL HIVEP1 3096 genome.wustl.edu 37 6 12124263 12124263 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002114.2 +1 validated p.R1412Q 0.000 108 0% 181 33.1% 1 0% benign(0.008) tolerated(0.47) neutral(0.011) NULL EDN1 1906 genome.wustl.edu 37 6 12294225 12294225 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001955.4 +1 reviewed p.E95D 1.000 66 0% 108 33.3% 1 0% benign(0.275) tolerated(0.13) neutral(0.282) NULL SIRT5 23408 genome.wustl.edu 37 6 13588577 13588577 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012241.3 +1 reviewed p.R44* 1.000 167 0% 287 33.4% 2 0% - - - superfamily_DHS-like NAD/FAD-binding domain RNF182 221687 genome.wustl.edu 37 6 13977801 13977801 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152737.3 +1 validated p.E151* 0.203 258 0% 168 28.6% 1 0% - - - NULL DTNBP1 84062 genome.wustl.edu 37 6 15652354 15652354 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032122.3 -1 reviewed p.D25A 1.000 159 0% 207 34.8% 14 35.7% probably_damaging(0.992) deleterious(0.01) deleterious(0.853) NULL MYLIP 29116 genome.wustl.edu 37 6 16145248 16145248 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013262.3 +1 reviewed p.K316 0.910 127 0% 147 27.2% 30 40% - - - NULL GMPR 2766 genome.wustl.edu 37 6 16254802 16254802 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006877.3 +1 reviewed p.V101M 1.000 215 0.5% 510 27.3% 4 0% probably_damaging(0.956) deleterious(0) deleterious(0.844) HMMPfam_IMPDH,superfamily_SSF51412 ATXN1 6310 genome.wustl.edu 37 6 16307035 16307035 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000332.3 -1 reviewed p.S658* 1.000 95 0% 200 41.5% 2 0% - - - HMMSmart_SM00536,HMMPfam_AXH,superfamily_AXH domain CAP2 10486 genome.wustl.edu 37 6 17426877 17426877 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006366.2 +1 reviewed p.F60L 1.000 153 0% 194 31.4% 0 - possibly_damaging(0.649) tolerated(0.1) deleterious(0.514) HMMPfam_CAP_N,superfamily_N-terminal domain of adenylylcyclase associated protein CAP FAM8A1 51439 genome.wustl.edu 37 6 17608450 17608450 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016255.2 +1 validated p.K374N 1.000 269 0% 385 29.9% 8 12.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RDD NUP153 9972 genome.wustl.edu 37 6 17629745 17629745 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005124.2 -1 reviewed p.S895 0.000 78 0% 130 33.8% 15 46.6% - - - NULL NUP153 9972 genome.wustl.edu 37 6 17688743 17688743 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005124.2 -1 reviewed p.S73N 0.008 174 0% 288 32.3% 3 66.6% benign(0.002) tolerated(1) - NULL NHLRC1 378884 genome.wustl.edu 37 6 18121746 18121746 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198586.2 -1 reviewed p.S364 0.889 56 0% 102 38.2% 7 57.1% - - - HMMPfam_NHL,superfamily_SSF101898 NHLRC1 378884 genome.wustl.edu 37 6 18122160 18122160 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198586.2 -1 reviewed p.Q226H 0.007 38 0% 80 30% 3 66.6% benign(0) tolerated(0.24) neutral(0.037) HMMPfam_NHL,superfamily_SSF101898 DEK 7913 genome.wustl.edu 37 6 18226431 18226431 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003472.3 -1 reviewed p.D364Y 1.000 74 0% 75 32% 51 52.9% probably_damaging(0.992) deleterious(0.04) deleterious(0.796) HMMPfam_DEK_C,superfamily_DEK C-terminal domain MBOAT1 154141 genome.wustl.edu 37 6 20118754 20118754 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080480.1 -1 provisional p.A309T 1.000 221 0% 318 34.3% 5 20% possibly_damaging(0.924) tolerated(0.15) deleterious(0.614) HMMPfam_MBOAT MBOAT1 154141 genome.wustl.edu 37 6 20124769 20124769 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080480.1 -1 provisional p.T259 0.961 81 0% 187 29.4% 13 30.7% - - - HMMPfam_MBOAT E2F3 1871 genome.wustl.edu 37 6 20480168 20480168 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001949.3 +1 reviewed p.R162Q 0.993 69 0% 141 19.9% 0 - benign(0.196) tolerated(0.07) neutral(0.338) NULL CDKAL1 54901 genome.wustl.edu 37 6 21198326 21198326 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017774.3 +1 reviewed p.F458L 1.000 177 0% 245 30.6% 7 14.2% benign(0.124) tolerated(0.65) neutral(0.013) HMMPfam_TRAM,superfamily_Radical SAM enzymes PRL 5617 genome.wustl.edu 37 6 22294638 22294638 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000948.4 -1 validated p.F68 0.997 99 0% 178 33.1% 1 0% - - - HMMPfam_Hormone_1,superfamily_4-helical cytokines PRL 5617 genome.wustl.edu 37 6 22294729 22294729 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000948.4 -1 validated p.R38Q 0.940 96 0% 89 42.7% 1 0% benign(0.049) tolerated(0.13) neutral(0.256) HMMPfam_Hormone_1,superfamily_4-helical cytokines NRSN1 140767 genome.wustl.edu 37 6 24146098 24146098 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_080723.4 +1 validated p.A171V 1.000 121 0% 119 32.8% 1 0% benign(0.045) tolerated(0.09) neutral(0.299) NULL GPLD1 2822 genome.wustl.edu 37 6 24429315 24429315 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001503.2 -1 reviewed p.S823Y 0.995 112 0% 166 30.1% 3 66.6% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL GPLD1 2822 genome.wustl.edu 37 6 24437388 24437388 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001503.2 -1 reviewed p.R717Q 0.079 106 0% 240 39.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00191,superfamily_Integrin alpha N-terminal domain KIAA0319 9856 genome.wustl.edu 37 6 24551738 24551738 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014809.3 -1 reviewed p.K988N 1.000 531 0% 845 34.1% 0 - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) NULL KIAA0319 9856 genome.wustl.edu 37 6 24589010 24589010 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014809.3 -1 reviewed p.L269I 1.000 99 0% 117 33.3% 0 - benign(0.261) tolerated(0.54) neutral(0.035) NULL TDP2 51567 genome.wustl.edu 37 6 24651192 24651192 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016614.2 -1 reviewed p.L305I 0.174 200 0% 284 34.9% 23 30.4% possibly_damaging(0.696) tolerated(0.59) neutral(0.254) HMMPfam_Exo_endo_phos,superfamily_Exo_endo_phos FAM65B 9750 genome.wustl.edu 37 6 24843296 24843296 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014722.2 -1 validated p.T572A 1.000 156 0% 209 37.8% 2 0% probably_damaging(0.967) tolerated(0.53) neutral(0.416) NULL FAM65B 9750 genome.wustl.edu 37 6 24873896 24873896 + Missense_Mutation SNP T T A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014722.2 -1 validated p.Y78F 1.000 289 0% 458 35.8% 0 - benign(0.003) tolerated(0.7) neutral(0.002) NULL SCGN 10590 genome.wustl.edu 37 6 25661855 25661855 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006998.3 +1 reviewed p.R77C 0.116 232 0% 247 32.8% 0 - benign(0.019) deleterious(0.02) neutral(0.384) superfamily_EF-hand SCGN 10590 genome.wustl.edu 37 6 25701492 25701492 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006998.3 +1 reviewed p.D254N 1.000 172 0.6% 223 36.8% 0 - probably_damaging(1) tolerated(0.05) deleterious(0.845) HMMSmart_SM00054,PatternScan_EF_HAND_1,superfamily_EF-hand SLC17A1 6568 genome.wustl.edu 37 6 25813344 25813344 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005074.3 -1 validated p.I238 0.630 328 0% 485 29.9% 0 - - - - HMMPfam_MFS_1,superfamily_MFS general substrate transporter HFE 3077 genome.wustl.edu 37 6 26091298 26091298 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000410.3 +1 reviewed p.F102 0.999 86 0% 171 35.1% 2 50% - - - HMMPfam_MHC_I,superfamily_MHC antigen-recognition domain HFE 3077 genome.wustl.edu 37 6 26091327 26091327 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000410.3 +1 reviewed p.S112I 0.997 64 0% 140 33.6% 3 0% probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_MHC_I,superfamily_MHC antigen-recognition domain HIST1H1T 3010 genome.wustl.edu 37 6 26107819 26107819 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005323.3 -1 reviewed p.R168I 0.570 199 0% 415 29.4% 0 - probably_damaging(0.981) deleterious(0) deleterious(0.870) NULL BTN2A2 10385 genome.wustl.edu 37 6 26392790 26392790 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006995.3 +1 reviewed p.E389D 0.001 273 0% 486 31.1% 8 37.5% benign(0.124) tolerated(0.13) neutral(0.263) HMMPfam_SPRY,HMMSmart_SM00449 ENSG00000250311 0 genome.wustl.edu 37 6 26478341 26478341 + RNA SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000511597 -1 known NULL 0.000 10 0% 15 26.7% 0 - - - - - BTN1A1 696 genome.wustl.edu 37 6 26509162 26509162 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001732.2 +1 validated p.F447L 0.864 77 0% 100 35% 0 - probably_damaging(0.986) deleterious(0.01) deleterious(0.840) HMMPfam_SPRY,HMMSmart_SM00449 ABT1 29777 genome.wustl.edu 37 6 26598743 26598743 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013375.2 +1 reviewed p.G230E 0.026 30 0% 41 26.8% 68 42.6% benign(0.044) tolerated(0.62) neutral(0.007) NULL HIST1H2AG 8969 genome.wustl.edu 37 6 27101097 27101097 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021064.4 +1 reviewed p.H83N 1.000 156 0% 235 34% 9 77.7% possibly_damaging(0.63) deleterious(0) deleterious(0.664) HMMSmart_SM00414,HMMPfam_Histone,superfamily_Histone-fold POM121L2 94026 genome.wustl.edu 37 6 27277410 27277410 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000444565 -1 known p.G847D 0.000 84 0% 98 30.6% 0 - benign(0.001) tolerated(0.79) neutral(0.001) NULL POM121L2 94026 genome.wustl.edu 37 6 27279643 27279643 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000444565 -1 known p.R103W 0.001 73 0% 83 33.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZNF391 346157 genome.wustl.edu 37 6 27368872 27368872 + Silent SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001076781.1 +1 validated p.R241 0.000 127 0% 242 31% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF184 7738 genome.wustl.edu 37 6 27419787 27419787 + Silent SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007149.2 -1 validated p.L517 0.000 177 0% 206 39.8% 20 50% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF184 7738 genome.wustl.edu 37 6 27420529 27420529 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007149.2 -1 validated p.R270I 1.000 291 0% 251 31.5% 7 85.7% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers HIST1H3J 8356 genome.wustl.edu 37 6 27858252 27858252 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003535.2 -1 reviewed p.D107Y 1.000 46 0% 45 24.4% 2 100% probably_damaging(1) - - HMMSmart_SM00428,HMMPfam_Histone,superfamily_Histone-fold OR2B2 81697 genome.wustl.edu 37 6 27879037 27879037 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033057.2 -1 validated p.R354I 0.000 68 0% 67 29.9% 0 - unknown(0) deleterious(0) - NULL OR2B2 81697 genome.wustl.edu 37 6 27879515 27879515 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033057.2 -1 validated p.N195H 0.988 103 0% 158 30.4% 0 - possibly_damaging(0.952) deleterious(0.02) deleterious(0.778) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR2B6 26212 genome.wustl.edu 37 6 27925655 27925655 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012367.1 +1 provisional p.L213F 0.001 308 0% 244 27.9% 5 60% benign(0.025) tolerated(0.16) neutral(0.060) HMMPfam_7tm_1,superfamily_SSF81321 ZNF192 7745 genome.wustl.edu 37 6 28117263 28117263 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000457389 +1 known p.S145Y 0.998 178 0% 242 35.5% 4 50% possibly_damaging(0.819) tolerated(0.07) deleterious(0.629) HMMSmart_SCAN ZNF192 7745 genome.wustl.edu 37 6 28121755 28121755 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006298.2 +1 validated p.R566I 1.000 104 0% 145 33.1% 1 0% probably_damaging(0.977) deleterious(0) deleterious(0.863) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF193 7746 genome.wustl.edu 37 6 28195028 28195028 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006299.3 +1 provisional p.R56* 0.006 63 1.6% 124 30.6% 10 50% - - - HMMPfam_SCAN,HMMSmart_SM00431 ZKSCAN4 387032 genome.wustl.edu 37 6 28212968 28212968 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019110.3 -1 provisional p.K522Q 1.000 214 0.5% 235 28.9% 6 33.3% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 NKAPL 222698 genome.wustl.edu 37 6 28228143 28228143 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001007531.1 +1 provisional p.G332S 1.000 216 0% 406 33% 1 0% benign(0.032) tolerated(0.08) neutral(0.301) HMMPfam_DUF926 NKAPL 222698 genome.wustl.edu 37 6 28228338 28228338 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001007531.1 +1 provisional p.K397Q 1.000 149 0% 249 29.7% 0 - probably_damaging(0.998) tolerated(0.1) deleterious(0.761) NULL ZNF187 7741 genome.wustl.edu 37 6 28244500 28244500 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152736.4 +1 validated p.R221Q 0.002 141 0% 225 28% 1 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers PGBD1 84547 genome.wustl.edu 37 6 28251950 28251950 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032507.3 +1 reviewed p.E120D 0.893 104 0% 215 36.3% 3 33.3% possibly_damaging(0.945) deleterious(0.03) deleterious(0.754) HMMPfam_SCAN,HMMSmart_SCAN ZNF323 64288 genome.wustl.edu 37 6 28297345 28297345 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001135215.1 -1 validated p.R39Q 0.075 104 0% 117 28.2% 13 30.7% possibly_damaging(0.867) deleterious(0.01) deleterious(0.742) HMMPfam_SCAN,HMMSmart_SCAN ZKSCAN3 80317 genome.wustl.edu 37 6 28333565 28333565 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024493.2 +1 validated p.E374* 0.859 239 0% 285 32.3% 11 45.4% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZSCAN12 9753 genome.wustl.edu 37 6 28350368 28350368 + Missense_Mutation SNP C C A rs35577079 TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000361028 -1 known p.K571N 1.000 311 0% 428 36.2% 1 0% benign(0.202) tolerated(0.07) neutral(0.339) NULL GPX5 2880 genome.wustl.edu 37 6 28499659 28499659 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001509.2 +1 reviewed p.L116I 1.000 107 0% 114 23.7% 0 - probably_damaging(0.985) deleterious(0.03) deleterious(0.796) HMMPfam_GSHPx,superfamily_Thiordxn-like_fd OR2B3 442184 genome.wustl.edu 37 6 29054412 29054412 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005226.2 -1 validated p.L205R 0.004 56 0% 92 38% 0 - possibly_damaging(0.928) deleterious(0) deleterious(0.820) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR2J1 442185 genome.wustl.edu 37 6 29069539 29069539 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000377171 +1 known p.F274L 0.921 111 0% 106 26.4% 0 - possibly_damaging(0.913) tolerated(0.26) neutral(0.398) HMMPfam_7tm_1,superfamily_SSF81321 OR5V1 81696 genome.wustl.edu 37 6 29323931 29323931 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030876.5 -1 validated p.I14 0.285 100 0% 98 37.8% 0 - - - - superfamily_Family A G protein-coupled receptor-like MAS1L 116511 genome.wustl.edu 37 6 29454822 29454822 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_052967.1 -1 provisional p.I286M 0.000 75 0% 66 22.7% 0 - benign(0.345) deleterious(0.01) deleterious(0.515) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like MAS1L 116511 genome.wustl.edu 37 6 29455512 29455512 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_052967.1 -1 provisional p.T56 0.000 106 0.9% 115 24.3% 0 - - - - NULL TRIM15 89870 genome.wustl.edu 37 6 30138316 30138316 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033229.2 +1 reviewed p.S257Y 1.000 136 0% 222 33.8% 0 - probably_damaging(0.998) tolerated(1) deleterious(0.474) NULL DPCR1 135656 genome.wustl.edu 37 6 30919440 30919440 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000462446 +1 known p.E1067K 0.001 266 0% 664 30.9% 0 - probably_damaging(0.987) tolerated(0.22) deleterious(0.478) NULL DPCR1 135656 genome.wustl.edu 37 6 30919931 30919931 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_080870.3 +1 validated p.E72D 0.006 178 0% 381 32% 0 - benign(0.007) tolerated(0.28) neutral(0.032) NULL LOC100287207 100287207 genome.wustl.edu 37 6 30954995 30954995 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002342619.1 -1 model p.E136* 0.001 102 0% 167 28.1% 0 - unknown(0) deleterious(0) - NULL CDSN 1041 genome.wustl.edu 37 6 31084937 31084937 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001264.3 -1 reviewed p.S152N 0.002 25 0% 35 48.6% 1 100% unknown(0) tolerated(0.08) - NULL HLA-B 3106 genome.wustl.edu 37 6 31323232 31323232 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005514.6 -1 reviewed p.E253K 0.958 131 0% 234 32.9% 1128 0.1% benign(0.336) deleterious(0) deleterious(0.550) HMMPfam_C1-set,HMMSmart_SM00407,superfamily_Immunoglobulin HCP5 10866 genome.wustl.edu 37 6 31431644 31431644 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006674.3 +1 validated p.E67K 0.037 99 0% 83 33.7% 2 0% - - - NULL MICB 4277 genome.wustl.edu 37 6 31477639 31477639 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005931.3 +1 reviewed p.P369S 0.004 129 0% 205 28.8% 2 50% benign(0.252) deleterious(0) deleterious(0.471) NULL PRRC2A 7916 genome.wustl.edu 37 6 31593365 31593365 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_080686.2 +1 reviewed p.Y246H 0.998 140 0% 234 33.8% 49 53% unknown(0) deleterious(0) - NULL MSH5 4439 genome.wustl.edu 37 6 31711942 31711942 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025259.5 +1 reviewed p.P188 0.001 122 0% 190 27.9% 0 - - - - NULL HSPA1L 3305 genome.wustl.edu 37 6 31778127 31778127 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005527.3 -1 reviewed p.K541N 0.998 76 1.3% 151 37.1% 1 0% probably_damaging(0.968) deleterious(0) deleterious(0.855) HMMPfam_HSP70,superfamily_SSF100920,superfamily_SSF100934 SLC44A4 80736 genome.wustl.edu 37 6 31833104 31833104 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025257.2 -1 reviewed p.R583Q 1.000 57 0% 146 32.9% 2 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_DUF580 C2 717 genome.wustl.edu 37 6 31901471 31901471 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000063.4 +1 reviewed p.R176H 1.000 6 0.000 12 0.500 8 0% benign(0.045) tolerated(0.95) neutral(0.003) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain C2 717 genome.wustl.edu 37 6 31902133 31902133 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000418949 +1 known p.L302 0.000 31 0% 62 21% 0 - - - - NULL STK19 8859 genome.wustl.edu 37 6 31938988 31938988 + RNA SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NR_026717.1 +1 validated NULL 0.000 5 0.000 10 0.400 3 33.3% - - - - CYP21A2 1589 genome.wustl.edu 37 6 32007809 32007809 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000500.5 +1 reviewed p.D256N 1.000 25 0% 44 29.5% 1 0% probably_damaging(0.985) tolerated(0.26) neutral(0.466) HMMPfam_p450,superfamily_Cytochrome_P450 TNXB 7148 genome.wustl.edu 37 6 32029351 32029351 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019105.6 -1 reviewed p.D2439N 0.506 24 0% 39 38.5% 0 - probably_damaging(0.991) tolerated(0.15) deleterious(0.685) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III TNXB 7148 genome.wustl.edu 37 6 32035471 32035471 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019105.6 -1 reviewed p.R2171C 0.184 64 0% 83 34.9% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III TNXB 7148 genome.wustl.edu 37 6 32063395 32063395 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019105.6 -1 reviewed p.C745 0.870 28 0% 47 29.8% 0 - - - - HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2,superfamily_EGF/Laminin NOTCH4 4855 genome.wustl.edu 37 6 32188204 32188204 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004557.3 -1 reviewed p.C379 1.000 10 0% 18 38.9% 1 0% - - - PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_CA,superfamily_EGF/Laminin HLA-DQB2 3120 genome.wustl.edu 37 6 32729453 32729453 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000427449 -1 known p.R115Q 0.000 8 0.000 15 0.400 0 - - - - superfamily_MHC antigen-recognition domain TAP1 6890 genome.wustl.edu 37 6 32816567 32816567 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000593.5 -1 reviewed p.E536D 1.000 263 0% 393 32.6% 37 16.2% probably_damaging(0.973) tolerated(0.1) deleterious(0.702) superfamily_ABC_TM_1 COL11A2 1302 genome.wustl.edu 37 6 33154441 33154441 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_080680.2 -1 reviewed p.R254I 0.736 477 0% 775 24.4% 0 - possibly_damaging(0.628) tolerated(0.06) deleterious(0.541) NULL WDR46 9277 genome.wustl.edu 37 6 33255751 33255751 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005452.5 -1 validated p.R205Q 0.975 155 0% 336 32.1% 60 35% possibly_damaging(0.62) deleterious(0.03) deleterious(0.581) superfamily_WD40 repeat-like RGL2 5863 genome.wustl.edu 37 6 33263183 33263183 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004761.3 -1 validated p.R346Q 0.963 64 0% 101 29.7% 27 59.2% possibly_damaging(0.666) deleterious(0) deleterious(0.680) HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_Ras GEF DAXX 1616 genome.wustl.edu 37 6 33287938 33287938 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001141970.1 -1 reviewed p.D451Y 0.506 143 0% 321 30.8% 48 37.5% unknown(0) deleterious(0.01) - HMMPfam_Daxx PHF1 5252 genome.wustl.edu 37 6 33383412 33383412 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002636.4 +1 reviewed p.P425L 0.888 84 0% 122 31.1% 56 28.5% unknown(0) deleterious(0) - NULL ZBTB9 221504 genome.wustl.edu 37 6 33423747 33423747 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152735.3 +1 validated p.F290 0.558 35 0% 116 32.8% 5 40% - - - NULL IP6K3 117283 genome.wustl.edu 37 6 33703141 33703141 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142883.1 -1 reviewed p.T38M 1.000 46 0% 36 33.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SAICAR synthase-like MLN 4295 genome.wustl.edu 37 6 33763289 33763289 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002418.2 -1 reviewed p.P110S 0.010 116 0% 146 34.9% 0 - possibly_damaging(0.482) tolerated(0.11) neutral(0.431) HMMPfam_Motilin_assoc SNRPC 6631 genome.wustl.edu 37 6 34735774 34735774 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003093.2 +1 reviewed p.P84S 0.998 123 0% 202 33.7% 278 43.5% unknown(0) tolerated(0.56) - NULL UHRF1BP1 54887 genome.wustl.edu 37 6 34802060 34802060 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017754.3 +1 validated p.K135N 1.000 174 0% 341 32% 2 100% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL UHRF1BP1 54887 genome.wustl.edu 37 6 34802176 34802176 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017754.3 +1 validated p.R174Q 1.000 112 0% 209 29.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL UHRF1BP1 54887 genome.wustl.edu 37 6 34826461 34826461 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017754.3 +1 validated p.K776N 0.997 36 0% 80 32.5% 1 0% benign(0.358) tolerated(0.51) neutral(0.122) NULL UHRF1BP1 54887 genome.wustl.edu 37 6 34840165 34840165 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017754.3 +1 validated p.E1425* 0.994 112 0% 181 27.1% 2 100% - - - NULL ANKS1A 23294 genome.wustl.edu 37 6 34985818 34985818 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015245.2 +1 validated p.F664 0.981 14 0% 22 27.3% 9 55.5% - - - NULL SCUBE3 222663 genome.wustl.edu 37 6 35216380 35216380 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152753.2 +1 provisional p.Q960H 1.000 123 1.6% 209 27.8% 0 - benign(0.003) tolerated(0.09) neutral(0.296) NULL RPL10A 4736 genome.wustl.edu 37 6 35437209 35437209 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007104.4 +1 reviewed p.Q71 1.000 104 0% 207 34.3% 2936 43.6% - - - HMMPfam_Ribosomal_L1,superfamily_Ribosomal protein L1 SLC26A8 116369 genome.wustl.edu 37 6 35980073 35980073 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_052961.2 -1 reviewed p.K89Q 1.000 149 0% 383 33.4% 0 - unknown(0) - - NULL SLC26A8 116369 genome.wustl.edu 37 6 35980127 35980127 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_052961.2 -1 reviewed p.R71* 0.026 133 0% 303 30.7% 0 - - - - NULL MAPK14 1432 genome.wustl.edu 37 6 36075361 36075361 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001315.2 +1 reviewed p.D324A 1.000 143 0% 241 34% 23 43.4% probably_damaging(0.993) deleterious(0.01) deleterious(0.856) superfamily_Protein kinase-like (PK-like) BRPF3 27154 genome.wustl.edu 37 6 36168215 36168215 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015695.2 +1 validated p.R39Q 0.998 74 0% 165 31.5% 5 20% possibly_damaging(0.855) tolerated(0.09) deleterious(0.627) NULL PNPLA1 285848 genome.wustl.edu 37 6 36270162 36270162 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145716.1 +1 validated p.A348T 0.000 121 0% 184 29.3% 0 - benign(0.001) deleterious(0) neutral(0.445) NULL C6orf222 389384 genome.wustl.edu 37 6 36298147 36298147 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001010903.4 -1 validated p.F107 0.016 65 0% 139 33.1% 0 - - - - NULL ETV7 51513 genome.wustl.edu 37 6 36353391 36353391 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016135.2 -1 provisional p.G21D 0.023 78 0% 86 38.4% 0 - possibly_damaging(0.948) tolerated(0.17) neutral(0.450) superfamily_SAM/Pointed domain STK38 11329 genome.wustl.edu 37 6 36463592 36463592 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007271.2 -1 provisional p.A456E 1.000 223 0% 368 35.1% 31 41.9% benign(0.001) tolerated(0.11) neutral(0.272) NULL STK38 11329 genome.wustl.edu 37 6 36483183 36483183 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007271.2 -1 provisional p.D201Y 1.000 279 0% 466 30.5% 15 46.6% possibly_damaging(0.612) deleterious(0) deleterious(0.656) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase SRSF3 6428 genome.wustl.edu 37 6 36564648 36564648 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003017.4 +1 validated p.R37 1.000 95 0% 202 29.2% 236 45.7% - - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD SRSF3 6428 genome.wustl.edu 37 6 36566682 36566682 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003017.4 +1 validated p.R88I 1.000 144 0% 359 31.5% 294 44.5% unknown(0) deleterious(0) - superfamily_RNA-binding domain RBD CPNE5 57699 genome.wustl.edu 37 6 36724058 36724058 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020939.1 -1 reviewed p.K291N 1.000 214 0% 265 29.1% 2 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_C2_CaLB FGD2 221472 genome.wustl.edu 37 6 36982772 36982772 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173558.3 +1 validated p.I329 1.000 63 0% 93 30.1% 3 0% - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like TMEM217 221468 genome.wustl.edu 37 6 37186272 37186272 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145316.3 -1 validated p.N179D 0.002 65 0% 95 41.1% 1 100% benign(0.139) tolerated(0.37) neutral(0.031) NULL TMEM217 221468 genome.wustl.edu 37 6 37186304 37186304 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145316.3 -1 validated p.R168Q 0.123 91 0% 134 35.1% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL FTSJD2 23070 genome.wustl.edu 37 6 37440242 37440242 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015050.2 +1 validated p.S556 1.000 163 0% 237 62.9% 10 80% - - - NULL MDGA1 266727 genome.wustl.edu 37 6 37622620 37622620 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153487.3 -1 validated p.G223D 1.000 179 0% 311 35% 3 0% possibly_damaging(0.608) deleterious(0.03) deleterious(0.575) HMMSmart_SM00409,superfamily_Immunoglobulin BTBD9 114781 genome.wustl.edu 37 6 38560565 38560565 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001099272.1 -1 reviewed p.D201Y 1.000 205 0.5% 272 27.6% 2 0% possibly_damaging(0.867) deleterious(0.05) deleterious(0.682) HMMPfam_BACK DNAH8 1769 genome.wustl.edu 37 6 38781873 38781873 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001371.2 +1 validated p.K884Q 1.000 180 0% 183 26.8% 0 - benign(0.001) tolerated(0.62) neutral(0.004) NULL DNAH8 1769 genome.wustl.edu 37 6 38805788 38805788 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001371.2 +1 validated p.V1262A 1.000 408 0% 557 31.2% 0 - benign(0.212) tolerated(0.33) neutral(0.044) NULL DNAH8 1769 genome.wustl.edu 37 6 38813376 38813376 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001371.2 +1 validated p.E1407D 0.998 132 0% 141 35.5% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_DHC_N2 DNAH8 1769 genome.wustl.edu 37 6 38818123 38818123 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001371.2 +1 validated p.E1549* 1.000 274 0% 211 27.5% 0 - - - - HMMPfam_DHC_N2 DNAH8 1769 genome.wustl.edu 37 6 38835916 38835916 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001371.2 +1 validated p.D2041Y 1.000 278 0% 418 32.8% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL DNAH8 1769 genome.wustl.edu 37 6 38840728 38840728 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001371.2 +1 validated p.W2211* 1.000 137 0% 141 22.7% 0 - - - - HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH8 1769 genome.wustl.edu 37 6 38905928 38905928 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001371.2 +1 validated p.E3697D 1.000 147 0% 199 29.1% 0 - benign(0.31) tolerated(0.06) neutral(0.419) NULL DNAH8 1769 genome.wustl.edu 37 6 38950164 38950164 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001371.2 +1 validated p.E4076K 1.000 387 0% 417 66.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Dynein_heavy GLP1R 2740 genome.wustl.edu 37 6 39033594 39033594 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002062.3 +1 validated p.R131* 0.850 127 0% 286 25.2% 0 - - - - HMMPfam_HRM,HMMSmart_SM00008,superfamily_Hormone receptor domain (HRM Pfam 02793),superfamily_Family A G protein-coupled receptor-like GLP1R 2740 genome.wustl.edu 37 6 39047367 39047367 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002062.3 +1 validated p.I357 1.000 170 0% 143 34.3% 0 - - - - HMMPfam_7tm_2,superfamily_Family A G protein-coupled receptor-like KCNK5 8645 genome.wustl.edu 37 6 39162102 39162102 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003740.3 -1 reviewed p.Q159H 1.000 78 0% 120 42.5% 0 - probably_damaging(0.996) deleterious(0.03) deleterious(0.826) superfamily_SSF81324 KCNK16 83795 genome.wustl.edu 37 6 39282860 39282860 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032115.3 -1 reviewed p.P283L 0.000 146 0% 196 36.7% 0 - unknown(0) deleterious(0) - NULL KCNK16 83795 genome.wustl.edu 37 6 39285666 39285666 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001135105.1 -1 reviewed p.L131 1.000 57 0% 50 32% 0 - - - - HMMPfam_Ion_trans_2,superfamily_SSF81324 KIF6 221458 genome.wustl.edu 37 6 39512325 39512325 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000373213 -1 known p.L478I 1.000 391 0% 371 28.6% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL KIF6 221458 genome.wustl.edu 37 6 39554143 39554143 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145027.4 -1 validated p.I295S 1.000 261 0% 403 35.2% 0 - probably_damaging(0.989) deleterious(0) deleterious(0.884) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases DAAM2 23500 genome.wustl.edu 37 6 39835492 39835492 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015345.2 +1 validated p.N212S 1.000 43 0% 68 27.9% 5 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Drf_GBD TREM2 54209 genome.wustl.edu 37 6 41126765 41126765 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018965.2 -1 reviewed p.S174 0.011 141 0% 241 29.9% 28 0% - - - NULL TFEB 7942 genome.wustl.edu 37 6 41652515 41652515 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007162.2 -1 validated p.A418V 1.000 34 0% 33 21.2% 15 20% benign(0.007) tolerated(0.28) neutral(0.032) NULL PRICKLE4 29964 genome.wustl.edu 37 6 41754815 41754815 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013397.5 +1 validated p.S368N 0.001 88 0% 128 32.8% 9 44.4% benign(0) tolerated(0.65) neutral(0.003) NULL CCND3 896 genome.wustl.edu 37 6 41908309 41908309 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000512426 -1 known p.S6N 1.000 28 0% 74 41.9% 29 51.7% - - - HMMSmart_SM00385,HMMPfam_Cyclin_N,superfamily_Cyclin-like C6orf132 647024 genome.wustl.edu 37 6 42071547 42071547 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000341865 -1 known p.H1173 0.940 169 0% 386 28.5% 10 60% - - - NULL GUCA1A 2978 genome.wustl.edu 37 6 42147046 42147046 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000409.3 +1 reviewed p.T171A 0.997 47 0% 63 31.7% 0 - possibly_damaging(0.93) tolerated(0.05) deleterious(0.722) superfamily_EF-hand TRERF1 55809 genome.wustl.edu 37 6 42236076 42236076 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033502.2 -1 reviewed p.A418D 0.997 50 0% 74 29.7% 4 25% probably_damaging(0.983) deleterious(0.01) deleterious(0.835) NULL UBR2 23304 genome.wustl.edu 37 6 42652536 42652536 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015255.2 +1 reviewed p.P1594S 1.000 109 0% 187 29.9% 13 46.1% possibly_damaging(0.827) deleterious(0.01) deleterious(0.720) NULL UBR2 23304 genome.wustl.edu 37 6 42652555 42652555 + Nonsense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015255.2 +1 reviewed p.L1600* 0.994 123 0% 226 35% 11 27.2% - - - NULL PRPH2 5961 genome.wustl.edu 37 6 42689995 42689995 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000322.4 -1 reviewed p.F26L 0.924 48 0% 112 34.8% 0 - benign(0) tolerated(1) - HMMPfam_Tetraspannin KIAA0240 23506 genome.wustl.edu 37 6 42790682 42790682 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015349.1 +1 validated p.D34Y 1.000 173 0% 286 26.6% 0 - probably_damaging(0.996) tolerated(0.09) deleterious(0.758) NULL KIAA0240 23506 genome.wustl.edu 37 6 42832659 42832659 + Missense_Mutation SNP A A T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015349.1 +1 validated p.K905N 0.937 53 0% 102 41.2% 3 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL KIAA0240 23506 genome.wustl.edu 37 6 42832883 42832883 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015349.1 +1 validated p.S980Y 1.000 60 0% 114 44.7% 3 0% probably_damaging(0.958) deleterious(0) deleterious(0.846) NULL RPL7L1 285855 genome.wustl.edu 37 6 42854064 42854064 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198486.2 +1 provisional p.E201D 0.198 184 0% 364 36.3% 51 39.2% benign(0.103) deleterious(0.03) neutral(0.372) superfamily_Ribosomal_L30 CUL7 9820 genome.wustl.edu 37 6 43018738 43018738 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014780.4 -1 reviewed p.R401W 1.000 113 0% 175 34.9% 14 42.8% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL CUL7 9820 genome.wustl.edu 37 6 43020138 43020138 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014780.4 -1 reviewed p.G130D 1.000 60 0% 84 40.5% 12 33.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL MRPL2 51069 genome.wustl.edu 37 6 43023737 43023737 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015950.3 -1 reviewed p.R177W 0.312 125 0% 247 31.6% 49 53% probably_damaging(0.964) deleterious(0) deleterious(0.851) HMMPfam_Ribosomal_L2_C CRIP3 401262 genome.wustl.edu 37 6 43276122 43276122 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_206922.2 -1 validated p.K23N 1.000 51 0% 78 42.3% 0 - probably_damaging(0.998) deleterious(0.04) deleterious(0.823) HMMPfam_LIM,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,superfamily_SSF57716 POLR1C 9533 genome.wustl.edu 37 6 43487902 43487902 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_203290.1 +1 validated p.E161K 1.000 125 0% 233 33.9% 53 56.6% benign(0.009) tolerated(0.79) neutral(0.002) superfamily_RBP11-like subunits of RNA polymerase,HMMPfam_RNA_pol_L,HMMPfam_RNA_pol_A_bac,superfamily_Insert subdomain of RNA polymerase alpha subunit,HMMSmart_SM00662 XPO5 57510 genome.wustl.edu 37 6 43496593 43496593 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000455285 -1 known p.S20L 0.997 142 0% 252 29% 23 56.5% - - - NULL POLH 5429 genome.wustl.edu 37 6 43573049 43573049 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006502.2 +1 reviewed p.R356Q 0.997 158 0% 273 31.9% 7 42.8% benign(0.006) deleterious(0.04) neutral(0.349) HMMPfam_IMS POLH 5429 genome.wustl.edu 37 6 43581898 43581898 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006502.2 +1 reviewed p.S582 0.000 62 0% 194 35.6% 9 11.1% - - - NULL SLC29A1 2030 genome.wustl.edu 37 6 44197477 44197477 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001078174.1 +1 reviewed p.A88V 1.000 152 0.7% 208 31.7% 9 11.1% probably_damaging(0.975) deleterious(0.01) deleterious(0.823) NULL TCTE1 202500 genome.wustl.edu 37 6 44250242 44250242 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182539.3 -1 validated p.R301* 0.089 137 0% 227 36.1% 0 - - - - superfamily_SSF52047 AARS2 57505 genome.wustl.edu 37 6 44268381 44268381 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020745.2 -1 validated p.A954V 1.000 53 0% 69 30.4% 21 33.3% possibly_damaging(0.952) deleterious(0) deleterious(0.840) NULL SPATS1 221409 genome.wustl.edu 37 6 44336178 44336178 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145026.3 +1 validated p.E213* 1.000 198 0% 292 33.6% 0 - - - - NULL CDC5L 988 genome.wustl.edu 37 6 44376268 44376268 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001253.2 +1 reviewed p.N331D 1.000 107 0% 204 36.3% 16 50% benign(0.234) tolerated(0.23) neutral(0.065) NULL SUPT3H 8464 genome.wustl.edu 37 6 44982541 44982541 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_181356.1 -1 provisional p.E132K 1.000 224 0% 253 23.3% 5 80% benign(0.21) tolerated(0.29) neutral(0.050) NULL RUNX2 860 genome.wustl.edu 37 6 45399665 45399665 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001024630.3 +1 reviewed p.N231K 1.000 176 0% 219 31.5% 6 33.3% probably_damaging(0.988) deleterious(0) deleterious(0.882) superfamily_P53_like_DNA_bnd,HMMPfam_Runt ENPP4 22875 genome.wustl.edu 37 6 46107842 46107842 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014936.4 +1 validated p.S174 0.000 121 0% 71 32.4% 5 60% - - - HMMPfam_Phosphodiest,superfamily_Alkaline_phosphatase_core ENPP4 22875 genome.wustl.edu 37 6 46108891 46108891 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014936.4 +1 validated p.R310Q 0.958 222 0% 95 27.4% 4 75% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Phosphodiest,superfamily_Alkaline_phosphatase_core ENPP5 59084 genome.wustl.edu 37 6 46129392 46129392 + Missense_Mutation SNP T T A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021572.4 -1 validated p.N369Y 1.000 289 0% 379 33.5% 9 88.8% benign(0.045) tolerated(0.09) neutral(0.299) superfamily_Alkaline phosphatase-like CYP39A1 51302 genome.wustl.edu 37 6 46607234 46607234 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016593.3 -1 reviewed p.V162A 0.978 275 0% 296 32.4% 11 63.6% possibly_damaging(0.46) deleterious(0) deleterious(0.596) superfamily_Cytochrome P450 CYP39A1 51302 genome.wustl.edu 37 6 46609957 46609957 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016593.3 -1 reviewed p.L86 0.996 183 0% 173 29.5% 11 9% - - - superfamily_Cytochrome P450 LOC100131283 100131283 genome.wustl.edu 37 6 46656591 46656591 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_001718599.1 -1 model p.E104* 1.000 22 0% 30 30% 0 - probably_damaging(0.998) tolerated(0.34) deleterious(0.497) NULL TDRD6 221400 genome.wustl.edu 37 6 46657747 46657747 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001010870.2 +1 validated p.E628* 0.994 99 0% 181 29.8% 0 - - - - NULL TDRD6 221400 genome.wustl.edu 37 6 46658116 46658116 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001010870.2 +1 validated p.L751F 0.014 44 0% 40 30% 0 - possibly_damaging(0.862) tolerated(0.7) neutral(0.335) NULL TDRD6 221400 genome.wustl.edu 37 6 46658299 46658299 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001010870.2 +1 validated p.T812A 0.000 225 0% 238 34.5% 0 - benign(0.001) tolerated(0.67) neutral(0.003) HMMPfam_TUDOR PLA2G7 7941 genome.wustl.edu 37 6 46672309 46672309 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005084.3 -1 reviewed p.E438 0.002 189 0% 183 21.9% 9 33.3% - - - NULL GPR116 221395 genome.wustl.edu 37 6 46847637 46847637 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001098518.1 -1 validated p.R318S 0.015 280 0% 294 28.9% 1 0% benign(0.267) tolerated(0.08) neutral(0.328) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin GPR116 221395 genome.wustl.edu 37 6 46847742 46847742 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001098518.1 -1 validated p.I283 0.969 184 0% 235 36.6% 5 0% - - - HMMSmart_SM00409,superfamily_Immunoglobulin TNFRSF21 27242 genome.wustl.edu 37 6 47202551 47202551 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014452.3 -1 reviewed p.E531D 1.000 82 0% 100 38% 53 49% benign(0.005) tolerated(0.1) neutral(0.286) NULL GPR115 221393 genome.wustl.edu 37 6 47680160 47680160 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153838.3 +1 validated p.R123Q 0.016 154 0% 202 36.6% 0 - benign(0.002) tolerated(0.69) neutral(0.002) NULL PTCHD4 442213 genome.wustl.edu 37 6 47976470 47976470 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000398738 -1 known p.A269T 1.000 133 0% 184 33.2% 0 - - - - NULL CRISP3 10321 genome.wustl.edu 37 6 49700911 49700911 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006061.1 -1 provisional p.P173H 1.000 231 0% 194 21.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SCP,superfamily_SCP-like_extracellular,PatternScan_CRISP_2 TFAP2B 7021 genome.wustl.edu 37 6 50791358 50791358 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003221.3 +1 reviewed p.G107E 0.996 142 0% 224 27.2% 0 - probably_damaging(0.998) tolerated(0.28) deleterious(0.506) NULL TFAP2B 7021 genome.wustl.edu 37 6 50803903 50803903 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003221.3 +1 reviewed p.S244L 1.000 107 0% 135 34.1% 1 100% possibly_damaging(0.915) deleterious(0.01) deleterious(0.772) HMMPfam_TF_AP-2 PKHD1 5314 genome.wustl.edu 37 6 51483974 51483974 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138694.3 -1 reviewed p.L4044V 0.000 65 0% 50 28% 0 - benign(0) tolerated(1) - NULL EFHC1 114327 genome.wustl.edu 37 6 52344582 52344582 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018100.3 +1 reviewed p.E546A 0.043 97 0% 144 33.3% 28 39.2% benign(0.002) tolerated(0.58) neutral(0.005) superfamily_EF-hand GSTA2 2939 genome.wustl.edu 37 6 52617688 52617688 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000846.4 -1 reviewed p.E126D 0.318 466 0% 543 32.6% 1 0% benign(0) tolerated(1) - HMMPfam_GST_C,superfamily_GST_C_like GSTA4 2941 genome.wustl.edu 37 6 52847411 52847411 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001512.3 -1 reviewed p.E169D 1.000 149 0% 181 33.1% 13 7.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_GST_C,superfamily_Glutathione S-transferase (GST) C-terminal domain GCLC 2729 genome.wustl.edu 37 6 53365257 53365257 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001498.2 -1 reviewed p.F484V 1.000 220 0% 291 32% 20 60% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GCS,superfamily_Glutamine synthetase/guanido kinase LRRC1 55227 genome.wustl.edu 37 6 53767437 53767437 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018214.4 +1 validated p.K266N 1.000 155 0.6% 186 31.2% 13 53.8% possibly_damaging(0.536) deleterious(0.01) deleterious(0.587) HMMSmart_SM00369,HMMSmart_SM00364,superfamily_L domain-like TINAG 27283 genome.wustl.edu 37 6 54216195 54216195 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014464.3 +1 validated p.A376S 1.000 239 0% 140 27.1% 0 - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) HMMPfam_Peptidase_C1,HMMSmart_SM00645,superfamily_Cysteine proteinases TINAG 27283 genome.wustl.edu 37 6 54219385 54219385 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014464.3 +1 validated p.E401* 0.032 201 0% 83 36.1% 0 - - - - HMMPfam_Peptidase_C1,HMMSmart_SM00645,superfamily_Cysteine proteinases FAM83B 222584 genome.wustl.edu 37 6 54792313 54792313 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001010872.1 +1 validated p.R206Q 1.000 111 0% 117 40.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF1669,superfamily_SSF56024 FAM83B 222584 genome.wustl.edu 37 6 54805350 54805350 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001010872.1 +1 validated p.E527D 0.678 217 0% 191 27.7% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL FAM83B 222584 genome.wustl.edu 37 6 54805353 54805353 + Missense_Mutation SNP T T A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001010872.1 +1 validated p.N528K 0.004 216 0% 188 35.6% 1 0% benign(0.071) tolerated(0.06) neutral(0.328) NULL FAM83B 222584 genome.wustl.edu 37 6 54806084 54806084 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001010872.1 +1 validated p.S772Y 0.973 87 0% 75 28% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL FAM83B 222584 genome.wustl.edu 37 6 54806432 54806432 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001010872.1 +1 validated p.R888I 1.000 109 0% 116 31% 2 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL FAM83B 222584 genome.wustl.edu 37 6 54806543 54806543 + Missense_Mutation SNP G G A rs181400966 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001010872.1 +1 validated p.R925Q 0.005 111 0.9% 109 41.3% 1 100% possibly_damaging(0.704) deleterious(0.01) deleterious(0.659) NULL FAM83B 222584 genome.wustl.edu 37 6 54806759 54806759 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001010872.1 +1 validated p.R997Q 1.000 102 0% 79 34.2% 3 66.6% probably_damaging(0.995) tolerated(0.07) deleterious(0.776) NULL HCRTR2 3062 genome.wustl.edu 37 6 55128616 55128616 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001526.3 +1 reviewed p.R253Q 1.000 205 0% 212 33% 0 - benign(0.004) tolerated(0.4) neutral(0.016) HMMPfam_7tm_1,superfamily_SSF81321 GFRAL 389400 genome.wustl.edu 37 6 55196532 55196532 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_207410.2 +1 validated p.E14 0.046 161 0% 211 34.6% 0 - - - - NULL HMGCLL1 54511 genome.wustl.edu 37 6 55360296 55360296 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019036.2 -1 validated p.E269G 1.000 203 0% 208 37% 0 - possibly_damaging(0.804) tolerated(0.28) neutral(0.334) HMMPfam_HMGL-like,superfamily_Aldolase DST 667 genome.wustl.edu 37 6 56341025 56341025 + Missense_Mutation SNP T T A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015548.4 -1 reviewed p.E4639D 0.998 183 0% 186 31.2% 10 30% possibly_damaging(0.849) - - HMMPfam_Spectrin,HMMSmart_SM00150 DST 667 genome.wustl.edu 37 6 56366442 56366442 + Missense_Mutation SNP T T A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015548.4 -1 reviewed p.N3916I 1.000 307 0% 217 34.6% 8 37.5% possibly_damaging(0.809) - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat DST 667 genome.wustl.edu 37 6 56394455 56394455 + Missense_Mutation SNP C C T rs186699708 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015548.4 -1 reviewed p.D3173N 1.000 293 0% 313 34.8% 4 25% probably_damaging(0.998) - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat DST 667 genome.wustl.edu 37 6 56438629 56438629 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015548.4 -1 reviewed p.K1739Q 1.000 257 0% 210 37.1% 1 100% benign(0.307) - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat DST 667 genome.wustl.edu 37 6 56443634 56443634 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015548.4 -1 reviewed p.K1712N 0.994 158 0% 148 29.7% 0 - possibly_damaging(0.559) - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat DST 667 genome.wustl.edu 37 6 56469116 56469116 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000370769 -1 known p.I3226S 0.000 112 0% 36 22.2% 0 - possibly_damaging(0.819) deleterious(0) deleterious(0.754) NULL DST 667 genome.wustl.edu 37 6 56471701 56471701 + Silent SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000370769 -1 known p.T2364 0.000 184 0% 131 37.4% 1 0% - - - NULL DST 667 genome.wustl.edu 37 6 56472647 56472647 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000370769 -1 known p.F2049C 0.000 97 0% 84 34.5% 0 - possibly_damaging(0.92) deleterious(0) deleterious(0.816) NULL DST 667 genome.wustl.edu 37 6 56472907 56472907 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000370769 -1 known p.V1962 0.061 154 0% 89 27% 0 - - - - NULL DST 667 genome.wustl.edu 37 6 56483018 56483018 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001723.5 -1 reviewed p.Q1938 0.001 315 0.3% 309 32.7% 0 - - - - NULL DST 667 genome.wustl.edu 37 6 56483750 56483750 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001723.5 -1 reviewed p.E1694D 0.054 283 0% 217 30% 0 - possibly_damaging(0.945) deleterious(0.05) deleterious(0.735) NULL DST 667 genome.wustl.edu 37 6 56492857 56492857 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015548.4 -1 reviewed p.K989N 0.998 299 0% 344 30.5% 0 - probably_damaging(0.996) deleterious(0.04) deleterious(0.810) HMMSmart_SM00150,superfamily_Spectrin repeat DST 667 genome.wustl.edu 37 6 56564503 56564503 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000370769 -1 known p.G121E 1.000 233 0% 203 33.5% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) PatternScan_ACTININ_2,HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain DST 667 genome.wustl.edu 37 6 56716281 56716281 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000370754 -1 known p.N180T 1.000 143 0% 171 42.1% 0 - benign(0.002) deleterious(0) neutral(0.445) superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,superfamily_Calponin-homology domain CH-domain ZNF451 26036 genome.wustl.edu 37 6 57006792 57006792 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001031623.2 +1 validated p.K301N 1.000 173 0% 168 29.8% 3 33.3% probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL ZNF451 26036 genome.wustl.edu 37 6 57012307 57012307 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001031623.2 +1 validated p.E475A 1.000 66 0% 93 33.3% 1 100% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL BAG2 9532 genome.wustl.edu 37 6 57048856 57048856 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004282.3 +1 reviewed p.K168N 1.000 96 0% 138 40.6% 11 27.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_BAG,HMMSmart_BAG PRIM2 5558 genome.wustl.edu 37 6 57244724 57244724 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000425433 +1 known p.R162Q 0.176 211 0% 225 17.8% 14 28.5% - - - NULL PHF3 23469 genome.wustl.edu 37 6 64394052 64394052 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015153.2 +1 provisional p.Q143 1.000 73 0% 89 39.3% 0 - - - - NULL PHF3 23469 genome.wustl.edu 37 6 64395141 64395141 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015153.2 +1 provisional p.P506 0.000 47 0% 64 31.2% 5 20% - - - NULL PHF3 23469 genome.wustl.edu 37 6 64401724 64401724 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015153.2 +1 provisional p.E763* 1.000 181 0% 320 34.7% 1 0% - - - HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger,PatternScan_ZF_PHD_1,HMMPfam_PHD PHF3 23469 genome.wustl.edu 37 6 64404571 64404571 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015153.2 +1 provisional p.R866Q 1.000 63 0% 84 23.8% 2 50% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL PHF3 23469 genome.wustl.edu 37 6 64422066 64422066 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015153.2 +1 provisional p.D1528Y 0.028 74 1.4% 54 22.2% 3 33.3% possibly_damaging(0.805) deleterious(0) deleterious(0.748) NULL PHF3 23469 genome.wustl.edu 37 6 64422318 64422318 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015153.2 +1 provisional p.N1612H 0.976 91 0% 81 30.9% 7 14.2% benign(0.293) deleterious(0) deleterious(0.535) NULL EYS 346007 genome.wustl.edu 37 6 64791755 64791755 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142800.1 -1 reviewed p.L2189F 0.972 160 0% 132 29.5% 0 - probably_damaging(0.989) - - HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 EYS 346007 genome.wustl.edu 37 6 65300118 65300118 + Missense_Mutation SNP G G T rs150640306 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142800.1 -1 reviewed p.S1881Y 0.984 161 0% 65 24.6% 0 - possibly_damaging(0.819) - - superfamily_Concanavalin A-like lectins/glucanases EYS 346007 genome.wustl.edu 37 6 65301117 65301117 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142800.1 -1 reviewed p.S1548Y 1.000 67 0% 40 32.5% 0 - possibly_damaging(0.819) - - superfamily_Concanavalin A-like lectins/glucanases EYS 346007 genome.wustl.edu 37 6 65301784 65301784 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142800.1 -1 reviewed p.E1326* 0.000 128 0% 101 32.7% 0 - - - - superfamily_Concanavalin A-like lectins/glucanases EYS 346007 genome.wustl.edu 37 6 65532544 65532544 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142800.1 -1 reviewed p.R1055M 1.000 87 0% 47 29.8% 0 - possibly_damaging(0.911) - - HMMSmart_SM00179,HMMSmart_SM00181,superfamily_EGF/Laminin EYS 346007 genome.wustl.edu 37 6 66094302 66094302 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142800.1 -1 reviewed p.F426L 1.000 222 0% 99 25.3% 0 - benign(0.014) tolerated(0.58) neutral(0.005) superfamily_EGF/Laminin EYS 346007 genome.wustl.edu 37 6 66115178 66115178 + Silent SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142800.1 -1 reviewed p.A315 0.001 227 0% 155 32.9% 0 - - - - NULL BAI3 577 genome.wustl.edu 37 6 69349237 69349237 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001704.2 +1 reviewed p.E224* 1.000 18 0% 21 38.1% 0 - - - - NULL BAI3 577 genome.wustl.edu 37 6 69703835 69703835 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001704.2 +1 reviewed p.P637H 1.000 163 0% 140 30.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL BAI3 577 genome.wustl.edu 37 6 69759194 69759194 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001704.2 +1 reviewed p.G763 1.000 219 0.5% 178 25.8% 0 - - - - NULL BAI3 577 genome.wustl.edu 37 6 70071397 70071397 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001704.2 +1 reviewed p.S1411Y 1.000 128 0% 82 30.5% 0 - possibly_damaging(0.911) deleterious(0) deleterious(0.807) NULL BAI3 577 genome.wustl.edu 37 6 70092781 70092781 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001704.2 +1 reviewed p.F1445C 1.000 214 0% 138 36.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL LMBRD1 55788 genome.wustl.edu 37 6 70423563 70423563 + Missense_Mutation SNP A A T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018368.3 -1 reviewed p.F297I 1.000 376 0% 276 37% 12 0% benign(0.013) tolerated(0.92) neutral(0.001) HMMPfam_LMBR1 COL19A1 1310 genome.wustl.edu 37 6 70608900 70608900 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001858.4 +1 reviewed p.K51T 0.002 173 0% 204 36.3% 0 - unknown(0) tolerated(0.09) - HMMSmart_TSPN COL19A1 1310 genome.wustl.edu 37 6 70646711 70646711 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001858.4 +1 reviewed p.S261* 0.005 218 0% 154 35.1% 0 - - - - NULL COL19A1 1310 genome.wustl.edu 37 6 70866024 70866024 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001858.4 +1 reviewed p.F695L 1.000 169 0% 99 31.3% 0 - benign(0.056) tolerated(0.64) neutral(0.007) NULL COL9A1 1297 genome.wustl.edu 37 6 71004188 71004188 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001851.4 -1 reviewed p.K126N 1.000 118 0% 127 35.4% 0 - probably_damaging(0.96) tolerated(0.24) neutral(0.441) HMMSmart_TSPN,superfamily_ConA_like_lec_gl FAM135A 57579 genome.wustl.edu 37 6 71234495 71234495 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000418814 +1 known p.Q570K 1.000 70 0% 76 17.1% 1 0% benign(0.054) deleterious(0.01) neutral(0.409) NULL FAM135A 57579 genome.wustl.edu 37 6 71235323 71235323 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001105531.2 +1 validated p.D650N 1.000 108 0% 102 32.4% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL FAM135A 57579 genome.wustl.edu 37 6 71245997 71245997 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001105531.2 +1 validated p.R1138C 1.000 320 0% 324 31.8% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF676,superfamily_SSF53474 RIMS1 22999 genome.wustl.edu 37 6 72892167 72892167 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014989.4 +1 reviewed p.P331 0.012 40 0% 76 38.2% 0 - - - - NULL RIMS1 22999 genome.wustl.edu 37 6 72960769 72960769 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014989.4 +1 reviewed p.E840* 1.000 236 0% 235 30.2% 0 - - - - HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) RIMS1 22999 genome.wustl.edu 37 6 73108671 73108671 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014989.4 +1 reviewed p.V1579L 1.000 201 0% 189 29.1% 0 - possibly_damaging(0.839) tolerated(0.12) deleterious(0.581) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),PatternScan_GLYCOSYL_HYDROL_F1_1 KCNQ5 56479 genome.wustl.edu 37 6 73879567 73879567 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019842.3 +1 reviewed p.R523* 0.987 164 0% 218 28% 0 - - - - HMMPfam_KCNQ_channel KHDC1L 100129128 genome.wustl.edu 37 6 73933492 73933492 + Silent SNP C C T rs146490159 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001126063.2 -1 validated p.L122 0.002 126 0% 247 33.6% 0 - - - - NULL DPPA5 340168 genome.wustl.edu 37 6 74063897 74063897 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001025290.1 -1 provisional p.E18K 0.005 81 0% 105 34.3% 0 - benign(0) deleterious(0.02) neutral(0.383) superfamily_SSF54791 OOEP 441161 genome.wustl.edu 37 6 74079353 74079353 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080507.2 -1 validated p.E55* 0.089 40 0% 97 33% 0 - - - - NULL DDX43 55510 genome.wustl.edu 37 6 74117772 74117772 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018665.2 +1 reviewed p.L376S 0.984 145 0% 289 31.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DEAD,HMMSmart_DEXDc,superfamily_SSF52540 MB21D1 115004 genome.wustl.edu 37 6 74150030 74150030 + Missense_Mutation SNP C C T rs190867294 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138441.2 -1 validated p.R339H 0.006 204 0% 332 33.1% 1 0% possibly_damaging(0.598) deleterious(0.05) deleterious(0.552) NULL MB21D1 115004 genome.wustl.edu 37 6 74155353 74155353 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138441.2 -1 validated p.E259* 0.975 121 0% 130 33.1% 0 - - - - NULL SLC17A5 26503 genome.wustl.edu 37 6 74346406 74346406 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012434.4 -1 reviewed p.S213Y 1.000 62 0% 112 28.6% 9 88.8% probably_damaging(0.961) deleterious(0) deleterious(0.849) HMMPfam_MFS_1,superfamily_MFS general substrate transporter CD109 135228 genome.wustl.edu 37 6 74440163 74440163 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_133493.3 +1 reviewed p.E125* 1.000 165 0% 255 31% 0 - - - - HMMPfam_A2M_N CD109 135228 genome.wustl.edu 37 6 74481193 74481193 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_133493.3 +1 reviewed p.E572D 0.997 162 0% 221 33.5% 0 - benign(0.024) tolerated(1) neutral(0.001) HMMPfam_A2M_N_2 CD109 135228 genome.wustl.edu 37 6 74481299 74481299 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_133493.3 +1 reviewed p.E608* 1.000 88 1.1% 120 28.3% 0 - - - - NULL CD109 135228 genome.wustl.edu 37 6 74516669 74516669 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_133493.3 +1 reviewed p.Q1021H 0.999 200 0% 247 32% 3 33.3% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_Terpenoid cyclases/Protein prenyltransferases,HMMPfam_A2M_comp FILIP1 27145 genome.wustl.edu 37 6 76023721 76023721 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015687.2 -1 validated p.E609D 0.784 432 0% 563 13.7% 1 0% benign(0.035) tolerated(0.4) neutral(0.018) NULL FILIP1 27145 genome.wustl.edu 37 6 76124490 76124490 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015687.2 -1 validated p.R67* 0.005 252 0% 242 31.8% 0 - - - - HMMPfam_CortBP2 SENP6 26054 genome.wustl.edu 37 6 76343307 76343307 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015571.2 +1 validated p.R73Q 0.993 111 0% 119 29.4% 3 0% benign(0.003) tolerated(0.13) neutral(0.253) NULL MYO6 4646 genome.wustl.edu 37 6 76591412 76591412 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004999.3 +1 reviewed p.E765* 1.000 122 0% 163 28.8% 19 0% - - - HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases IMPG1 3617 genome.wustl.edu 37 6 76660415 76660415 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001563.2 -1 provisional p.S563Y 0.993 63 0% 95 44.2% 0 - probably_damaging(0.968) tolerated(0.14) deleterious(0.659) superfamily_SSF82671 IMPG1 3617 genome.wustl.edu 37 6 76660805 76660805 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001563.2 -1 provisional p.S433Y 0.119 150 0.7% 169 32% 0 - probably_damaging(0.992) deleterious(0) deleterious(0.892) NULL HTR1B 3351 genome.wustl.edu 37 6 78172193 78172193 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000863.1 -1 provisional p.R310C 1.000 105 0% 134 33.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like IRAK1BP1 134728 genome.wustl.edu 37 6 79608035 79608035 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001010844.1 +1 provisional p.R256I 0.993 25 0% 45 48.9% 3 0% benign(0.021) tolerated(0.07) neutral(0.320) NULL PHIP 55023 genome.wustl.edu 37 6 79655966 79655966 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017934.5 -1 validated p.K1461T 1.000 303 0% 385 36.4% 4 50% probably_damaging(0.998) tolerated(0.09) deleterious(0.771) NULL PHIP 55023 genome.wustl.edu 37 6 79668221 79668221 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017934.5 -1 validated p.F1251 1.000 104 0% 81 24.7% 0 - - - - HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain PHIP 55023 genome.wustl.edu 37 6 79707306 79707306 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017934.5 -1 validated p.S676R 0.999 235 0% 239 33.5% 6 33.3% possibly_damaging(0.923) tolerated(0.64) neutral(0.376) NULL PHIP 55023 genome.wustl.edu 37 6 79708099 79708099 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017934.5 -1 validated p.Q630P 1.000 186 0% 175 36.6% 8 62.5% possibly_damaging(0.85) tolerated(0.09) deleterious(0.623) NULL PHIP 55023 genome.wustl.edu 37 6 79727227 79727227 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017934.5 -1 validated p.E356D 1.000 54 0% 50 34% 2 50% possibly_damaging(0.892) tolerated(0.08) deleterious(0.651) HMMSmart_SM00320,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase,HMMPfam_WD40 LCA5 167691 genome.wustl.edu 37 6 80222939 80222939 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001122769.2 -1 reviewed p.R237I 1.000 214 0% 175 30.9% 1 0% probably_damaging(0.996) tolerated(0.11) deleterious(0.733) NULL LCA5 167691 genome.wustl.edu 37 6 80223051 80223051 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001122769.2 -1 reviewed p.K200Q 1.000 434 0% 341 34% 1 100% probably_damaging(0.995) tolerated(0.08) deleterious(0.758) NULL ELOVL4 6785 genome.wustl.edu 37 6 80626527 80626527 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022726.3 -1 reviewed p.H248R 1.000 193 0% 220 29.5% 2 0% possibly_damaging(0.757) tolerated(0.37) neutral(0.299) HMMPfam_ELO UBE3D 90025 genome.wustl.edu 37 6 83754345 83754345 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198920.1 -1 provisional p.E133D 0.986 166 0% 164 33.5% 3 0% benign(0.091) tolerated(0.38) neutral(0.024) HMMPfam_DUF2351 DOPEY1 23033 genome.wustl.edu 37 6 83829562 83829562 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015018.2 +1 validated p.E326* 1.000 180 0% 186 35.5% 0 - - - - NULL DOPEY1 23033 genome.wustl.edu 37 6 83832636 83832636 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015018.2 +1 validated p.L425 0.253 340 0% 229 23.6% 0 - - - - NULL DOPEY1 23033 genome.wustl.edu 37 6 83839089 83839089 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015018.2 +1 validated p.S735R 0.014 122 0% 116 39.7% 0 - benign(0.009) tolerated(0.68) neutral(0.003) NULL PGM3 5238 genome.wustl.edu 37 6 83900642 83900642 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015599.1 -1 provisional p.T30 0.004 292 0% 379 31.9% 14 21.4% - - - NULL ME1 4199 genome.wustl.edu 37 6 84055897 84055897 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002395.4 -1 reviewed p.N199H 1.000 98 0% 164 40.2% 0 - probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_malic,superfamily_SSF53223 SNAP91 9892 genome.wustl.edu 37 6 84371287 84371287 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014841.2 -1 validated p.R129I 1.000 133 0% 104 27.9% 0 - benign(0.276) deleterious(0.04) neutral(0.378) superfamily_ENTH/VHS domain,HMMPfam_ANTH,HMMSmart_SM00273 KIAA1009 22832 genome.wustl.edu 37 6 84896325 84896325 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014895.2 -1 validated p.E376K 0.005 152 0% 177 32.8% 1 0% benign(0.086) tolerated(0.21) neutral(0.050) NULL NT5E 4907 genome.wustl.edu 37 6 86181001 86181001 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002526.2 +1 validated p.E203D 1.000 127 0% 150 38% 2 0% possibly_damaging(0.944) tolerated(0.14) deleterious(0.638) HMMPfam_Metallophos,superfamily_SSF56300 SNX14 57231 genome.wustl.edu 37 6 86253463 86253463 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153816.3 -1 reviewed p.R375I 1.000 55 0% 78 37.2% 9 22.2% possibly_damaging(0.691) deleterious(0.01) deleterious(0.653) HMMPfam_RGS,HMMSmart_SM00315,superfamily_Regulator of G-protein signaling RGS SYNCRIP 10492 genome.wustl.edu 37 6 86328993 86328993 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006372.4 -1 validated p.A384D 1.000 180 0% 280 30% 80 15% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD SYNCRIP 10492 genome.wustl.edu 37 6 86350232 86350232 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006372.4 -1 validated p.E67* 1.000 132 0% 156 34.6% 36 30.5% - - - NULL LOC100289653 100289653 genome.wustl.edu 37 6 87607384 87607384 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002342648.1 +1 model p.Y183 1.000 135 0% 220 35.9% 0 - - - - superfamily_PH domain-like ZNF292 23036 genome.wustl.edu 37 6 87943081 87943081 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015021.1 +1 validated p.D193N 1.000 116 0% 173 34.1% 1 0% benign(0.188) tolerated(0.16) neutral(0.077) NULL ZNF292 23036 genome.wustl.edu 37 6 87967461 87967461 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015021.1 +1 validated p.D1372Y 1.000 105 0% 92 20.7% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_C2H2 and C2HC zinc fingers GJB7 375519 genome.wustl.edu 37 6 87994149 87994149 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198568.2 -1 validated p.P161H 1.000 135 0% 172 33.7% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) PatternScan_CONNEXINS_2,HMMPfam_Connexin_CCC C6orf163 206412 genome.wustl.edu 37 6 88074836 88074836 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_001720635.1 +1 model p.E112K 0.816 125 0% 163 32.5% 1 0% probably_damaging(1) tolerated(0.11) deleterious(0.772) NULL C6orf163 206412 genome.wustl.edu 37 6 88075017 88075017 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_001720635.1 +1 model p.P172H 0.993 68 0% 80 30% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SLC35A1 10559 genome.wustl.edu 37 6 88218163 88218163 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000369557 +1 known p.E158* 1.000 142 0.7% 131 35.9% 8 25% - - - NULL RARS2 57038 genome.wustl.edu 37 6 88273851 88273851 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020320.3 -1 reviewed p.E70D 1.000 214 0% 374 34.5% 20 30% possibly_damaging(0.907) tolerated(0.13) deleterious(0.613) superfamily_Arginyl-tRNA synthetase (ArgRS) N-terminal 'additional' domain ORC3 23595 genome.wustl.edu 37 6 88311549 88311549 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_181837.1 +1 reviewed p.R43* 1.000 127 0% 206 38.3% 4 25% - - - HMMPfam_ORC3_N SPACA1 81833 genome.wustl.edu 37 6 88767344 88767344 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030960.2 +1 reviewed p.E94* 1.000 259 0% 300 30.7% 0 - - - - NULL CNR1 1268 genome.wustl.edu 37 6 88854630 88854630 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016083.4 -1 reviewed p.L122M 0.880 59 0% 104 26.9% 0 - possibly_damaging(0.924) deleterious(0.01) deleterious(0.778) superfamily_Family A G protein-coupled receptor-like RNGTT 8732 genome.wustl.edu 37 6 89600276 89600276 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003800.3 -1 validated p.K278 1.000 205 0% 279 29% 0 - - - - HMMPfam_mRNA_cap_enzyme,superfamily_DNA ligase/mRNA capping enzyme catalytic domain UBE2J1 51465 genome.wustl.edu 37 6 90039597 90039597 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016021.2 -1 reviewed p.R253Q 0.999 222 0% 295 28.8% 104 27.8% possibly_damaging(0.79) tolerated(0.27) neutral(0.330) NULL ANKRD6 22881 genome.wustl.edu 37 6 90276737 90276737 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014942.3 +1 validated p.L14 1.000 118 0% 175 21.7% 4 75% - - - HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat MDN1 23195 genome.wustl.edu 37 6 90448158 90448158 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014611.1 -1 provisional p.R1537I 1.000 131 0% 175 38.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases MDN1 23195 genome.wustl.edu 37 6 90452878 90452878 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014611.1 -1 provisional p.R1480I 1.000 111 0% 207 28.5% 2 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases GJA10 84694 genome.wustl.edu 37 6 90605433 90605433 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032602.1 +1 validated p.S416G 0.936 93 0% 166 30.7% 0 - possibly_damaging(0.907) deleterious(0.01) deleterious(0.766) NULL BACH2 60468 genome.wustl.edu 37 6 90661285 90661285 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021813.2 -1 validated p.C180 1.000 230 0% 227 33% 0 - - - - NULL EPHA7 2045 genome.wustl.edu 37 6 93956553 93956553 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004440.3 -1 reviewed p.R895* 1.000 331 0% 349 30.9% 10 30% - - - superfamily_Protein kinase-like (PK-like) MANEA 79694 genome.wustl.edu 37 6 96034467 96034467 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024641.2 +1 validated p.R51Q 0.000 221 0% 210 30.5% 1 0% benign(0.122) tolerated(0.44) neutral(0.022) NULL FUT9 10690 genome.wustl.edu 37 6 96651056 96651056 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006581.3 +1 validated p.L9I 1.000 78 0% 108 37% 0 - benign(0) tolerated(0.23) neutral(0.042) HMMPfam_Glyco_transf_10 FUT9 10690 genome.wustl.edu 37 6 96651230 96651230 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006581.3 +1 validated p.L67M 0.997 220 0% 259 32.4% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Glyco_transf_10 UFL1 23376 genome.wustl.edu 37 6 96996080 96996080 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015323.4 +1 validated p.E481D 0.994 210 0% 81 35.8% 7 42.8% benign(0.377) tolerated(0.43) neutral(0.134) NULL UFL1 23376 genome.wustl.edu 37 6 97000528 97000528 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015323.4 +1 validated p.K719T 1.000 141 0% 90 28.9% 10 40% possibly_damaging(0.701) tolerated(0.28) neutral(0.283) NULL FHL5 9457 genome.wustl.edu 37 6 97051624 97051624 + Missense_Mutation SNP A A T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020482.4 +1 reviewed p.K45N 0.859 152 0% 172 29.1% 0 - possibly_damaging(0.592) tolerated(0.34) neutral(0.227) HMMPfam_LIM,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,superfamily_SSF57716 FBXL4 26235 genome.wustl.edu 37 6 99374572 99374572 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012160.3 -1 reviewed p.R98Q 1.000 118 0% 198 31.8% 3 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL FAXC 84553 genome.wustl.edu 37 6 99729199 99729199 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032511.2 -1 validated p.P357 0.019 278 0% 242 39.3% 14 57.1% - - - NULL PNISR 25957 genome.wustl.edu 37 6 99848627 99848627 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015491.1 -1 validated p.S736Y 1.000 351 0% 361 21.6% 40 22.5% possibly_damaging(0.449) deleterious(0) deleterious(0.592) NULL USP45 85015 genome.wustl.edu 37 6 99891451 99891451 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080481.1 -1 provisional p.R688I 1.000 65 0% 96 27.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UCH,superfamily_Cysteine proteinases USP45 85015 genome.wustl.edu 37 6 99893833 99893833 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080481.1 -1 provisional p.Q605 1.000 56 0% 68 30.9% 2 100% - - - HMMPfam_UCH,superfamily_Cysteine proteinases USP45 85015 genome.wustl.edu 37 6 99912964 99912964 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080481.1 -1 provisional p.E386* 1.000 117 0% 130 44.6% 0 - - - - HMMPfam_UCH,superfamily_Cysteine proteinases USP45 85015 genome.wustl.edu 37 6 99936646 99936646 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080481.1 -1 provisional p.E177* 0.949 150 0% 214 32.2% 1 100% - - - NULL PRDM13 59336 genome.wustl.edu 37 6 100056621 100056621 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021620.3 +1 validated p.R50H 1.000 41 0% 33 42.4% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SET PRDM13 59336 genome.wustl.edu 37 6 100062044 100062044 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021620.3 +1 validated p.E511D 1.000 6 0.000 10 0.400 0 - possibly_damaging(0.945) tolerated(0.3) neutral(0.418) NULL SIM1 6492 genome.wustl.edu 37 6 100841487 100841487 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005068.2 -1 reviewed p.P482 0.948 88 0% 96 41.7% 0 - - - - HMMPfam_SIM_C ASCC3 10973 genome.wustl.edu 37 6 100960782 100960782 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006828.2 -1 validated p.L2030V 1.000 116 0% 153 30.1% 22 54.5% benign(0.007) tolerated(0.55) neutral(0.007) HMMSmart_SEC63 ASCC3 10973 genome.wustl.edu 37 6 101054908 101054908 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006828.2 -1 validated p.F1614 0.997 208 0% 195 32.3% 8 50% - - - HMMPfam_Helicase_C,HMMSmart_HELICc,superfamily_SSF52540 ASCC3 10973 genome.wustl.edu 37 6 101296418 101296418 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006828.2 -1 validated p.R136Q 0.997 102 0% 96 38.5% 1 100% benign(0.07) tolerated(0.65) neutral(0.008) NULL GRIK2 2898 genome.wustl.edu 37 6 101847239 101847239 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021956.4 +1 reviewed p.S29Y 1.000 244 0% 321 40.8% 0 - benign(0.198) deleterious(0.03) neutral(0.384) superfamily_Periplasmic binding protein-like I GRIK2 2898 genome.wustl.edu 37 6 102124662 102124662 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021956.4 +1 reviewed p.A236T 1.000 140 0% 204 29.9% 1 0% possibly_damaging(0.922) tolerated(0.5) neutral(0.382) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I GRIK2 2898 genome.wustl.edu 37 6 102247617 102247617 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021956.4 +1 reviewed p.R349Q 1.000 323 0% 288 29.2% 1 0% probably_damaging(0.984) tolerated(0.57) neutral(0.436) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I GRIK2 2898 genome.wustl.edu 37 6 102307217 102307217 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021956.4 +1 reviewed p.R458Q 1.000 330 0% 361 31.3% 0 - probably_damaging(0.992) tolerated(0.14) deleterious(0.697) HMMSmart_SM00079,HMMPfam_Lig_chan-Glu_bd,superfamily_Periplasmic binding protein-like II BVES 11149 genome.wustl.edu 37 6 105564575 105564575 + Splice_Site SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007073.3 -1 reviewed e5+1 1.000 155 0% 196 24.5% 0 - - - - - POPDC3 64208 genome.wustl.edu 37 6 105606457 105606457 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022361.4 -1 reviewed p.R255I 0.694 207 0% 265 29.1% 0 - benign(0.347) deleterious(0.01) deleterious(0.516) HMMPfam_Popeye PREP 5550 genome.wustl.edu 37 6 105781363 105781363 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002726.3 -1 reviewed p.K281Q 1.000 156 0% 261 33.3% 14 57.1% probably_damaging(0.995) tolerated(0.08) deleterious(0.758) HMMPfam_Peptidase_S9_N,superfamily_Peptidase_S9A_N AIM1 202 genome.wustl.edu 37 6 106999787 106999787 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001624.2 +1 validated p.F1383L 0.300 50 0% 102 40.2% 3 33.3% benign(0) tolerated(0.75) neutral(0.002) HMMPfam_Crystall,HMMSmart_XTALbg,superfamily_G_crystallin_SF BEND3 57673 genome.wustl.edu 37 6 107390787 107390787 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080450.2 -1 validated p.F536 0.988 19 0% 16 31.2% 1 0% - - - NULL PDSS2 57107 genome.wustl.edu 37 6 107531678 107531678 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020381.3 -1 reviewed p.L325I 1.000 129 0% 179 33% 3 33.3% benign(0.01) tolerated(0.41) neutral(0.015) superfamily_Terpenoid synthases PDSS2 57107 genome.wustl.edu 37 6 107655469 107655469 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020381.3 -1 reviewed p.A122S 1.000 90 0% 86 30.2% 5 60% unknown(0) deleterious(0) - superfamily_Terpenoid synthases SCML4 256380 genome.wustl.edu 37 6 108066344 108066344 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198081.3 -1 validated p.S164L 0.995 44 0% 34 23.5% 0 - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL SCML4 256380 genome.wustl.edu 37 6 108093501 108093501 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198081.3 -1 validated p.R11* 1.000 195 0% 222 31.1% 0 - - - - NULL SEC63 11231 genome.wustl.edu 37 6 108197787 108197787 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007214.4 -1 reviewed p.T672M 1.000 313 0% 374 32.1% 113 43.3% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Sec63,HMMSmart_SEC63 SEC63 11231 genome.wustl.edu 37 6 108214797 108214797 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007214.4 -1 reviewed p.K521N 1.000 310 0% 345 35.1% 40 45% possibly_damaging(0.95) tolerated(0.22) neutral(0.435) HMMPfam_Sec63,HMMSmart_SEC63 NR2E1 7101 genome.wustl.edu 37 6 108501566 108501566 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003269.3 +1 validated p.L228I 1.000 162 0% 256 37.5% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain ARMC2 84071 genome.wustl.edu 37 6 109232170 109232170 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032131.4 +1 validated p.K364N 1.000 129 0% 172 23.8% 0 - benign(0.09) tolerated(0.65) neutral(0.009) superfamily_ARM-type_fold PPIL6 285755 genome.wustl.edu 37 6 109748083 109748083 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173672.4 -1 validated p.R200* 1.000 220 0% 324 30.6% 14 21.4% - - - HMMPfam_Pro_isomerase,superfamily_Cyclophilin-like MICAL1 64780 genome.wustl.edu 37 6 109770560 109770560 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000368957 -1 known p.L5 0.000 136 0% 190 36.3% 0 - - - - NULL ZBTB24 9841 genome.wustl.edu 37 6 109787507 109787507 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014797.2 -1 validated p.S547 0.001 164 0.6% 247 31.2% 5 20% - - - NULL ZBTB24 9841 genome.wustl.edu 37 6 109802885 109802885 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014797.2 -1 validated p.F115L 0.980 246 0% 397 38% 2 50% benign(0.001) tolerated(0.17) neutral(0.059) HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB AKD1 221264 genome.wustl.edu 37 6 109814704 109814704 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000424296 -1 known p.S947R 0.998 230 0% 330 34.2% 2 50% benign(0) tolerated(0.57) neutral(0.006) NULL FIG4 9896 genome.wustl.edu 37 6 110037744 110037744 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014845.5 +1 reviewed p.R88* 1.000 216 0% 392 34.7% 8 50% - - - NULL CDC40 51362 genome.wustl.edu 37 6 110522830 110522830 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015891.2 +1 reviewed p.E116K 1.000 265 0% 317 32.8% 3 33.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL METTL24 728464 genome.wustl.edu 37 6 110567212 110567212 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001123364.1 -1 inferred p.K346N 1.000 258 0% 320 28.7% 0 - benign(0.159) deleterious(0.03) neutral(0.379) NULL LOC441166 441166 genome.wustl.edu 37 6 111179897 111179897 + RNA SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XR_016728.3 +1 model NULL 0.951 16 0% 21 52.4% 0 - - - - - AMD1 262 genome.wustl.edu 37 6 111211528 111211528 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001634.4 +1 reviewed p.E132D 1.000 72 0% 78 37.2% 36 41.6% benign(0.009) tolerated(0.77) neutral(0.002) HMMPfam_SAM_decarbox,superfamily_S-AdenosylMet_decarbase_core RPF2 84154 genome.wustl.edu 37 6 111318400 111318400 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032194.1 +1 validated p.K83N 1.000 212 0% 359 30.1% 18 27.7% possibly_damaging(0.92) tolerated(0.28) neutral(0.402) HMMPfam_Brix REV3L 5980 genome.wustl.edu 37 6 111621310 111621310 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002912.3 -1 validated p.S3101Y 1.000 239 0% 318 28.6% 53 33.9% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL REV3L 5980 genome.wustl.edu 37 6 111636554 111636554 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002912.3 -1 validated p.K2794N 1.000 139 0% 240 30% 29 51.7% probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_DNA_pol_B,superfamily_DNA/RNA polymerases REV3L 5980 genome.wustl.edu 37 6 111696343 111696343 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002912.3 -1 validated p.R1072I 1.000 305 0% 315 33.7% 2 50% probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_Ribonuclease H-like REV3L 5980 genome.wustl.edu 37 6 111699009 111699009 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002912.3 -1 validated p.D498Y 1.000 226 0% 247 35.2% 2 0% benign(0.027) deleterious(0) neutral(0.446) superfamily_Ribonuclease H-like REV3L 5980 genome.wustl.edu 37 6 111726690 111726690 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002912.3 -1 validated p.R183Q 1.000 173 0% 180 28.9% 3 33.3% probably_damaging(0.999) - - superfamily_Ribonuclease H-like FYN 2534 genome.wustl.edu 37 6 112015662 112015662 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002037.3 -1 reviewed p.L397I 0.931 231 0.4% 273 27.8% 69 39.1% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_TYR,superfamily_Protein kinase-like (PK-like) WISP3 8838 genome.wustl.edu 37 6 112382254 112382254 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198239.1 +1 reviewed p.E55* 0.007 130 0% 184 31% 0 - - - - NULL LAMA4 3910 genome.wustl.edu 37 6 112443227 112443227 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001105206.1 -1 reviewed p.F1489V 1.000 484 0.2% 456 36.2% 13 0% probably_damaging(0.998) tolerated(0.17) deleterious(0.533) superfamily_Concanavalin A-like lectins/glucanases LAMA4 3910 genome.wustl.edu 37 6 112453970 112453970 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001105206.1 -1 reviewed p.F1273L 1.000 210 0% 174 30.5% 10 0% benign(0.003) tolerated(0.53) neutral(0.007) HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 LAMA4 3910 genome.wustl.edu 37 6 112460448 112460448 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001105206.1 -1 reviewed p.F1052 0.999 203 0% 188 33% 5 0% - - - superfamily_Concanavalin A-like lectins/glucanases LAMA4 3910 genome.wustl.edu 37 6 112537653 112537653 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001105206.1 -1 reviewed p.F71L 1.000 83 0% 151 39.1% 6 0% possibly_damaging(0.574) deleterious(0.03) deleterious(0.561) NULL LOC100128588 100128588 genome.wustl.edu 37 6 112647615 112647615 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_001723020.1 -1 model p.L113I 0.173 17 0% 15 33.3% 0 - - - - NULL HS3ST5 222537 genome.wustl.edu 37 6 114378586 114378586 + Missense_Mutation SNP A A T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153612.3 -1 validated p.F292L 1.000 151 0% 206 34% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases FRK 2444 genome.wustl.edu 37 6 116264232 116264232 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002031.2 -1 reviewed p.F419 1.000 163 0.6% 122 27% 1 0% - - - HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like FRK 2444 genome.wustl.edu 37 6 116325138 116325138 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002031.2 -1 reviewed p.R123I 1.000 179 0% 150 37.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_SH2,HMMSmart_SH2,superfamily_SH3,superfamily_SSF55550 COL10A1 1300 genome.wustl.edu 37 6 116446591 116446591 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000493.3 -1 reviewed p.A22D 1.000 422 0% 456 37.5% 4 0% unknown(0) tolerated(0.05) - NULL TSPYL4 23270 genome.wustl.edu 37 6 116573928 116573928 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021648.4 -1 validated p.*415 0.940 101 0% 109 33% 14 57.1% - - - NULL TSPYL4 23270 genome.wustl.edu 37 6 116575057 116575057 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021648.4 -1 validated p.E39* 0.019 80 0% 98 38.8% 6 33.3% - - - NULL RWDD1 51389 genome.wustl.edu 37 6 116914255 116914255 + Silent SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015952.2 +1 validated p.S241 0.118 110 0% 142 34.5% 211 47.8% - - - NULL RSPH4A 345895 genome.wustl.edu 37 6 116949323 116949323 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001010892.2 +1 reviewed p.R485* 1.000 98 0% 129 34.9% 1 0% - - - HMMPfam_Radial_spoke ZUFSP 221302 genome.wustl.edu 37 6 116977966 116977966 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145062.2 -1 validated p.R281Q 0.937 349 0% 484 21.3% 12 16.6% possibly_damaging(0.885) tolerated(0.32) neutral(0.370) NULL KPNA5 3841 genome.wustl.edu 37 6 117013233 117013233 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002269.2 +1 reviewed p.N52D 1.000 164 0% 214 37.4% 1 100% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_IBB,superfamily_ARM repeat GPRC6A 222545 genome.wustl.edu 37 6 117127604 117127604 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_148963.2 -1 validated p.L422I 0.679 97 0% 55 25.5% 0 - benign(0.049) tolerated(0.95) neutral(0.003) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I GPRC6A 222545 genome.wustl.edu 37 6 117127980 117127980 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_148963.2 -1 validated p.N296K 0.007 197 0% 118 32.2% 0 - benign(0.002) tolerated(0.15) neutral(0.241) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I ROS1 6098 genome.wustl.edu 37 6 117647553 117647553 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002944.2 -1 reviewed p.Q1797H 0.017 239 0% 185 38.4% 0 - benign(0.422) tolerated(0.09) neutral(0.433) HMMSmart_FN3,superfamily_FN_III-like ROS1 6098 genome.wustl.edu 37 6 117681082 117681082 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002944.2 -1 reviewed p.A1180T 0.000 200 0% 144 28.5% 0 - benign(0.001) tolerated(0.65) neutral(0.003) superfamily_SSF63825 ROS1 6098 genome.wustl.edu 37 6 117725515 117725515 + Silent SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002944.2 -1 reviewed p.A122 0.998 219 0% 326 32.8% 0 - - - - HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like NUS1 116150 genome.wustl.edu 37 6 118014217 118014217 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138459.3 +1 validated p.R143I 1.000 88 0% 121 62% 7 71.4% probably_damaging(0.992) tolerated(0.05) deleterious(0.793) superfamily_Undecaprenyl diphosphate synthase SLC35F1 222553 genome.wustl.edu 37 6 118588241 118588241 + Silent SNP C C T rs188928224 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001029858.3 +1 validated p.I187 0.121 558 0% 668 35% 1 0% - - - HMMPfam_DUF914 C6orf170 221322 genome.wustl.edu 37 6 121613210 121613210 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152730.4 -1 validated p.K454R 1.000 150 0% 121 33.9% 1 100% possibly_damaging(0.942) tolerated(0.75) neutral(0.389) NULL C6orf170 221322 genome.wustl.edu 37 6 121624823 121624823 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152730.4 -1 validated p.L340F 1.000 229 0% 211 27% 3 100% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL GJA1 2697 genome.wustl.edu 37 6 121768708 121768708 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000165.3 +1 reviewed p.R239W 1.000 208 0% 357 36.1% 174 33.9% probably_damaging(0.994) deleterious(0.02) deleterious(0.835) NULL SMPDL3A 10924 genome.wustl.edu 37 6 123126204 123126204 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006714.3 +1 validated p.D297Y 1.000 81 0% 90 43.3% 15 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Metallophos,superfamily_SSF56300 SMPDL3A 10924 genome.wustl.edu 37 6 123127393 123127393 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006714.3 +1 validated p.S312F 1.000 385 0% 470 30.9% 10 0% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) superfamily_SSF56300 TRDN 10345 genome.wustl.edu 37 6 123818395 123818395 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006073.2 -1 validated p.Q266K 1.000 113 0% 119 28.6% 0 - possibly_damaging(0.666) tolerated(0.44) neutral(0.248) HMMPfam_Triadin TRDN 10345 genome.wustl.edu 37 6 123833494 123833494 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006073.2 -1 validated p.E188D 0.997 49 0% 36 47.2% 0 - unknown(0) deleterious(0) - HMMPfam_Triadin NKAIN2 154215 genome.wustl.edu 37 6 124604217 124604217 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001040214.1 +1 reviewed p.F41V 1.000 417 0% 451 36.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_NKAIN RNF217 154214 genome.wustl.edu 37 6 125402605 125402605 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152553.2 +1 provisional p.L211I 1.000 333 0% 162 24.1% 0 - benign(0.001) tolerated(0.5) neutral(0.010) NULL NCOA7 135112 genome.wustl.edu 37 6 126210830 126210830 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_181782.3 +1 validated p.E544* 1.000 39 0% 39 38.5% 1 0% - - - NULL TRMT11 60487 genome.wustl.edu 37 6 126333966 126333966 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001031712.2 +1 validated p.E325D 0.161 353 0% 371 22.1% 11 36.3% benign(0) tolerated(0.62) neutral(0.004) HMMPfam_UPF0020,superfamily_S-adenosyl-L-methionine-dependent methyltransferases RNF146 81847 genome.wustl.edu 37 6 127608617 127608617 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030963.2 +1 provisional p.E286K 1.000 197 0% 109 33% 51 37.2% possibly_damaging(0.892) deleterious(0.02) deleterious(0.734) NULL ECHDC1 55862 genome.wustl.edu 37 6 127648254 127648254 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001139510.1 -1 validated p.E92* 0.784 206 0% 254 29.1% 17 11.7% - - - HMMPfam_ECH,superfamily_ClpP/crotonase KIAA0408 9729 genome.wustl.edu 37 6 127767691 127767691 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014702.4 -1 validated p.C591 0.001 278 0% 302 32.1% 0 - - - - NULL KIAA0408 9729 genome.wustl.edu 37 6 127768652 127768652 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014702.4 -1 validated p.R271I 1.000 185 0% 135 33.3% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL KIAA0408 9729 genome.wustl.edu 37 6 127768765 127768765 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014702.4 -1 validated p.K233 0.059 73 0% 74 36.5% 0 - - - - NULL SOGA3 387104 genome.wustl.edu 37 6 127794456 127794456 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001012279.2 -1 validated p.V938 1.000 149 0% 279 23.7% 0 - - - - NULL SOGA3 387104 genome.wustl.edu 37 6 127834111 127834111 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001012279.2 -1 validated p.E470D 1.000 508 0% 699 35.8% 0 - benign(0.072) tolerated(0.06) neutral(0.328) NULL SOGA3 387104 genome.wustl.edu 37 6 127837061 127837061 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001012279.2 -1 validated p.N233K 1.000 13 0.000 7 0.571 0 - possibly_damaging(0.763) tolerated(0.25) neutral(0.320) NULL THEMIS 387357 genome.wustl.edu 37 6 128134152 128134152 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001010923.2 -1 reviewed p.R545I 1.000 168 0% 138 20.3% 1 100% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL THEMIS 387357 genome.wustl.edu 37 6 128134506 128134506 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001010923.2 -1 reviewed p.P427H 1.000 153 0% 132 35.6% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PTPRK 5796 genome.wustl.edu 37 6 128298134 128298134 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001135648.1 -1 validated p.F1265L 1.000 304 0.3% 333 33.9% 21 33.3% probably_damaging(0.973) deleterious(0.04) deleterious(0.764) HMMPfam_Y_phosphatase,HMMSmart_PTPc,superfamily_SSF52799 PTPRK 5796 genome.wustl.edu 37 6 128304112 128304112 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001135648.1 -1 validated p.F1140C 1.000 146 0% 157 36.3% 12 16.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Y_phosphatase,HMMSmart_PTPc,superfamily_SSF52799 LAMA2 3908 genome.wustl.edu 37 6 129204500 129204500 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000426.3 +1 reviewed p.R37I 1.000 20 0% 20 25% 0 - unknown(0) deleterious(0.01) - HMMSmart_LamNT LAMA2 3908 genome.wustl.edu 37 6 129475707 129475707 + Missense_Mutation SNP G G A rs182958473 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000426.3 +1 reviewed p.R362K 1.000 206 0% 254 31.1% 1 0% benign(0.002) tolerated(0.57) neutral(0.006) HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_ConA_like_lec_gl,superfamily_SSF57196 LAMA2 3908 genome.wustl.edu 37 6 129486815 129486815 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000426.3 +1 reviewed p.R434Q 0.000 217 0% 198 28.8% 2 0% benign(0.002) tolerated(0.58) neutral(0.005) HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_ConA_like_lec_gl,superfamily_SSF57196 LAMA2 3908 genome.wustl.edu 37 6 129513873 129513873 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000426.3 +1 reviewed p.R553* 0.007 170 0% 109 27.5% 2 50% - - - superfamily_ConA_like_lec_gl LAMA2 3908 genome.wustl.edu 37 6 129573286 129573286 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000426.3 +1 reviewed p.E648* 1.000 133 0% 175 32.6% 0 - - - - HMMPfam_Laminin_B,superfamily_ConA_like_lec_gl,HMMSmart_LamB LAMA2 3908 genome.wustl.edu 37 6 129581881 129581881 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000426.3 +1 reviewed p.A708T 0.936 273 0% 176 31.2% 4 0% benign(0.169) tolerated(0.13) neutral(0.268) HMMPfam_Laminin_B,superfamily_ConA_like_lec_gl,HMMSmart_LamB LAMA2 3908 genome.wustl.edu 37 6 129591822 129591822 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000426.3 +1 reviewed p.F792L 1.000 273 0% 167 31.7% 0 - possibly_damaging(0.866) tolerated(0.07) deleterious(0.655) HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,PatternScan_EGF_LAM_1,superfamily_ConA_like_lec_gl,superfamily_SSF57196 LAMA2 3908 genome.wustl.edu 37 6 129663487 129663487 + Splice_Site SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000426.3 +1 reviewed e30-1 1.000 198 0% 185 36.2% 0 - - - - - LAMA2 3908 genome.wustl.edu 37 6 129766889 129766889 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000426.3 +1 reviewed p.E2118K 1.000 110 0% 122 27.9% 2 0% benign(0.052) tolerated(0.89) neutral(0.003) superfamily_ConA_like_lec_gl,HMMPfam_Laminin_II LAMA2 3908 genome.wustl.edu 37 6 129802562 129802562 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000426.3 +1 reviewed p.R2576I 1.000 200 0% 178 36% 7 14.2% probably_damaging(0.997) deleterious(0.02) deleterious(0.849) HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_1 LAMA2 3908 genome.wustl.edu 37 6 129802567 129802567 + Nonsense_Mutation SNP C C T rs121913572 TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000426.3 +1 reviewed p.R2578* 1.000 194 0% 177 33.3% 7 14.2% - - - HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_1 LAMA2 3908 genome.wustl.edu 37 6 129826378 129826378 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000426.3 +1 reviewed p.L2861I 0.212 141 0% 162 27.8% 8 0% benign(0.001) tolerated(0.35) neutral(0.021) HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_1 TMEM244 253582 genome.wustl.edu 37 6 130154728 130154728 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001010876.1 -1 provisional p.L66I 0.992 174 0% 233 33.5% 0 - possibly_damaging(0.875) tolerated(0.25) neutral(0.377) NULL L3MBTL3 84456 genome.wustl.edu 37 6 130425615 130425615 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032438.1 +1 validated p.R594H 0.969 131 0% 132 31.8% 6 50% possibly_damaging(0.951) tolerated(0.12) deleterious(0.655) superfamily_CCHHC domain SAMD3 154075 genome.wustl.edu 37 6 130475988 130475988 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001017373.2 -1 validated p.F335L 0.929 113 0.9% 130 30.8% 1 0% probably_damaging(0.998) tolerated(0.43) deleterious(0.488) NULL TMEM200A 114801 genome.wustl.edu 37 6 130762228 130762228 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_052913.2 +1 provisional p.R221* 0.876 116 0% 161 36% 3 0% - - - NULL EPB41L2 2037 genome.wustl.edu 37 6 131276416 131276416 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001431.3 -1 validated p.K178 0.014 508 0% 649 33% 3 66.6% - - - NULL MED23 9439 genome.wustl.edu 37 6 131925428 131925428 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004830.2 -1 reviewed p.K549T 1.000 139 0% 109 35.8% 2 50% possibly_damaging(0.643) deleterious(0) deleterious(0.670) NULL MED23 9439 genome.wustl.edu 37 6 131929076 131929076 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004830.2 -1 reviewed p.E405* 1.000 185 0% 159 32.1% 2 50% - - - NULL ENPP3 5169 genome.wustl.edu 37 6 131995305 131995305 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005021.3 +1 reviewed p.L216V 0.939 84 0% 81 38.3% 7 57.1% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Phosphodiest,superfamily_Alkaline_phosphatase_core CTAGE9 643854 genome.wustl.edu 37 6 132031210 132031210 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145659.1 -1 provisional p.K316N 0.000 215 0% 421 31.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ENPP3 5169 genome.wustl.edu 37 6 132043369 132043369 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005021.3 +1 reviewed p.L524I 1.000 255 0% 276 27.9% 0 - possibly_damaging(0.927) tolerated(0.1) deleterious(0.661) superfamily_Alkaline_phosphatase_core ENPP3 5169 genome.wustl.edu 37 6 132043403 132043403 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005021.3 +1 reviewed p.T535I 1.000 320 0% 342 34.5% 3 100% probably_damaging(0.968) deleterious(0) deleterious(0.855) NULL ENPP1 5167 genome.wustl.edu 37 6 132204843 132204843 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006208.2 +1 reviewed p.K747T 0.241 146 0% 153 32.7% 0 - benign(0.005) tolerated(0.58) neutral(0.005) HMMSmart_NUC,superfamily_SSF54060 ENPP1 5167 genome.wustl.edu 37 6 132206104 132206104 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006208.2 +1 reviewed p.R782Q 0.001 375 0.3% 588 25% 0 - benign(0.002) tolerated(0.64) neutral(0.003) HMMSmart_NUC,superfamily_SSF54060 CTGF 1490 genome.wustl.edu 37 6 132270668 132270668 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001901.2 -1 reviewed p.I262 1.000 140 0% 222 35.1% 169 10.6% - - - HMMSmart_SM00041,HMMPfam_Cys_knot STX7 8417 genome.wustl.edu 37 6 132793454 132793454 + Splice_Site SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000434788 -1 known e3+1 0.990 396 0% 430 35.1% 23 39.1% benign(0) tolerated(0.58) neutral(0.005) - TAAR6 319100 genome.wustl.edu 37 6 132891982 132891982 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_175067.1 +1 reviewed p.D174 0.000 201 0% 224 36.6% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 TAAR2 9287 genome.wustl.edu 37 6 132938860 132938860 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001033080.1 -1 validated p.R162I 0.000 67 0% 110 42.7% 0 - benign(0.016) tolerated(0.38) neutral(0.018) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like TAAR1 134864 genome.wustl.edu 37 6 132966342 132966342 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138327.1 -1 provisional p.F267L 1.000 73 1.4% 41 26.8% 0 - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) HMMPfam_7tm_1,superfamily_SSF81321 VNN1 8876 genome.wustl.edu 37 6 133005614 133005614 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004666.2 -1 reviewed p.N407H 0.000 111 0% 151 36.4% 0 - benign(0.002) tolerated(0.14) neutral(0.249) NULL VNN2 8875 genome.wustl.edu 37 6 133070965 133070965 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004665.2 -1 reviewed p.T414A 0.007 109 0% 140 37.9% 0 - probably_damaging(0.972) deleterious(0.01) deleterious(0.820) NULL LOC285735 285735 genome.wustl.edu 37 6 133421209 133421209 + RNA SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NR_026969.1 +1 predicted NULL 0.068 255 0% 323 33.1% 0 - - - - - EYA4 2070 genome.wustl.edu 37 6 133783489 133783489 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004100.4 +1 reviewed p.L152I 1.000 300 0% 317 29.7% 0 - probably_damaging(0.994) tolerated(0.14) deleterious(0.702) NULL EYA4 2070 genome.wustl.edu 37 6 133802626 133802626 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004100.4 +1 reviewed p.P332 0.989 122 0% 90 47.8% 0 - - - - NULL EYA4 2070 genome.wustl.edu 37 6 133844203 133844203 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004100.4 +1 reviewed p.C542* 0.413 121 0% 107 29.9% 0 - - - - HMMPfam_Hydrolase SGK1 6446 genome.wustl.edu 37 6 134491431 134491431 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001143676.1 -1 reviewed p.A519V 1.000 79 0% 127 33.9% 64 34.3% benign(0.001) tolerated(0.27) neutral(0.034) HMMSmart_S_TK_X,HMMPfam_Pkinase_C HBS1L 10767 genome.wustl.edu 37 6 135299849 135299849 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006620.3 -1 reviewed p.N589H 1.000 182 0% 124 32.3% 31 35.4% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_GTP_EFTU_D3,superfamily_EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain HBS1L 10767 genome.wustl.edu 37 6 135306526 135306526 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006620.3 -1 reviewed p.R482Q 1.000 154 0% 177 30.5% 21 33.3% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) superfamily_Translation proteins,superfamily_P-loop containing nucleoside triphosphate hydrolases AHI1 54806 genome.wustl.edu 37 6 135639675 135639675 + Missense_Mutation SNP T T A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001134830.1 -1 reviewed p.K1136N 0.005 191 0% 215 33% 3 100% possibly_damaging(0.925) deleterious(0.02) deleterious(0.756) NULL BCLAF1 9774 genome.wustl.edu 37 6 136599630 136599630 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014739.2 -1 reviewed p.R130H 1.000 222 0% 194 13.9% 31 0% unknown(0) deleterious(0.05) - NULL MAP3K5 4217 genome.wustl.edu 37 6 136960756 136960756 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005923.3 -1 reviewed p.R620I 1.000 99 0% 124 34.7% 2 0% probably_damaging(0.994) deleterious(0.03) deleterious(0.817) NULL MAP3K5 4217 genome.wustl.edu 37 6 137015347 137015347 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005923.3 -1 reviewed p.R395Q 1.000 195 0% 212 30.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL IL20RA 53832 genome.wustl.edu 37 6 137330412 137330412 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000367746 -1 known p.L207 0.000 171 0% 265 29.8% 0 - - - - NULL IFNGR1 3459 genome.wustl.edu 37 6 137522142 137522142 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000416.2 -1 reviewed p.S246Y 0.001 92 0% 132 30.3% 25 32% probably_damaging(0.991) deleterious(0.02) deleterious(0.827) HMMPfam_IFNGR1 IFNGR1 3459 genome.wustl.edu 37 6 137540444 137540444 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000416.2 -1 reviewed p.L7 0.000 37 0% 31 29% 10 50% - - - HMMPfam_IFNGR1 OLIG3 167826 genome.wustl.edu 37 6 137815294 137815294 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_175747.2 -1 provisional p.S5L 1.000 29 0% 28 25% 0 - unknown(0) deleterious(0) - NULL KIAA1244 57221 genome.wustl.edu 37 6 138582667 138582667 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020340.4 +1 validated p.L370I 1.000 125 0% 174 35.1% 3 100% benign(0.393) tolerated(0.28) neutral(0.158) NULL KIAA1244 57221 genome.wustl.edu 37 6 138584676 138584676 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020340.4 +1 validated p.R686W 0.997 19 0% 31 35.5% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_Sec7 KIAA1244 57221 genome.wustl.edu 37 6 138608297 138608297 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020340.4 +1 validated p.E958* 1.000 82 0% 133 20.3% 0 - - - - NULL HEBP2 23593 genome.wustl.edu 37 6 138734105 138734105 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014320.2 +1 validated p.D170N 0.812 319 0.3% 441 34.2% 316 44.3% benign(0.003) tolerated(1) - HMMPfam_SOUL NHSL1 57224 genome.wustl.edu 37 6 138752362 138752362 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001144060.1 -1 validated p.N1040K 0.000 69 0% 131 32.8% 8 50% benign(0.001) tolerated(1) - NULL CCDC28A 25901 genome.wustl.edu 37 6 139097218 139097218 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015439.2 +1 validated p.V77 0.014 107 0% 251 34.3% 6 50% - - - NULL REPS1 85021 genome.wustl.edu 37 6 139226213 139226213 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031922.3 -1 validated p.F792L 1.000 131 0% 256 35.2% 85 47% probably_damaging(0.987) tolerated(0.12) deleterious(0.697) NULL TXLNB 167838 genome.wustl.edu 37 6 139564168 139564168 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153235.3 -1 validated p.P517L 0.000 77 0% 121 40.5% 0 - benign(0) tolerated(0.26) neutral(0.034) NULL NMBR 4829 genome.wustl.edu 37 6 142409481 142409481 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002511.2 -1 validated p.F105L 1.000 49 0% 79 31.6% 0 - benign(0.005) tolerated(1) - HMMPfam_7tm_1,superfamily_SSF81321 GPR126 57211 genome.wustl.edu 37 6 142630754 142630754 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198569.2 +1 reviewed p.L26V 0.000 246 0.4% 209 34% 3 33.3% benign(0.051) deleterious(0) neutral(0.448) NULL GPR126 57211 genome.wustl.edu 37 6 142725013 142725013 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198569.2 +1 reviewed p.R677Q 0.011 163 0% 175 33.1% 0 - benign(0.046) tolerated(0.38) neutral(0.020) NULL HIVEP2 3097 genome.wustl.edu 37 6 143074653 143074653 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006734.3 -1 provisional p.S2311L 0.980 132 0% 207 31.4% 9 44.4% probably_damaging(0.98) deleterious(0.04) deleterious(0.773) NULL HIVEP2 3097 genome.wustl.edu 37 6 143082656 143082656 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006734.3 -1 provisional p.C1855 1.000 122 0% 86 33.7% 8 87.5% - - - NULL HIVEP2 3097 genome.wustl.edu 37 6 143094288 143094288 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006734.3 -1 provisional p.L530I 1.000 224 0% 297 28.3% 2 0% probably_damaging(0.991) tolerated(0.22) deleterious(0.486) NULL STX11 8676 genome.wustl.edu 37 6 144508337 144508337 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003764.3 +1 reviewed p.E191D 1.000 25 0% 32 28.1% 2 0% benign(0.154) tolerated(0.66) neutral(0.016) superfamily_t-snare UTRN 7402 genome.wustl.edu 37 6 144779923 144779923 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007124.2 +1 reviewed p.E768* 0.993 71 0% 92 28.3% 2 0% - - - HMMSmart_SPEC,superfamily_Spectrin UTRN 7402 genome.wustl.edu 37 6 144869958 144869958 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007124.2 +1 reviewed p.E2260* 0.788 123 0% 172 32.6% 2 50% - - - HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin FBXO30 84085 genome.wustl.edu 37 6 146126018 146126018 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032145.4 -1 reviewed p.V508 0.996 67 0% 58 46.6% 5 40% - - - NULL FBXO30 84085 genome.wustl.edu 37 6 146127048 146127048 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032145.4 -1 reviewed p.I165R 0.915 343 0.3% 285 32.6% 3 66.6% benign(0.039) tolerated(0.55) neutral(0.009) NULL SHPRH 257218 genome.wustl.edu 37 6 146267452 146267452 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001042683.2 -1 validated p.P413Q 1.000 325 0.6% 196 34.7% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases SHPRH 257218 genome.wustl.edu 37 6 146273496 146273496 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001042683.2 -1 validated p.S251Y 1.000 142 0% 74 33.8% 1 100% benign(0) tolerated(0.07) neutral(0.319) NULL GRM1 2911 genome.wustl.edu 37 6 146720216 146720216 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000838.3 +1 reviewed p.R681C 1.000 277 0% 307 22.8% 0 - probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_7tm_3 GRM1 2911 genome.wustl.edu 37 6 146755479 146755479 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000838.3 +1 reviewed p.A1044 0.516 33 0% 23 30.4% 0 - - - - NULL ADGB 79747 genome.wustl.edu 37 6 147067146 147067146 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024694.3 +1 provisional p.A1089V 0.005 140 0% 87 26.4% 0 - benign(0.009) tolerated(0.28) neutral(0.032) NULL ADGB 79747 genome.wustl.edu 37 6 147073671 147073671 + Missense_Mutation SNP C C T rs186199600 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024694.3 +1 provisional p.S1124L 0.910 147 0% 94 26.6% 0 - benign(0.205) tolerated(0.35) neutral(0.041) NULL ADGB 79747 genome.wustl.edu 37 6 147122375 147122375 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024694.3 +1 provisional p.R1532* 0.365 163 0% 191 31.4% 0 - - - - NULL SASH1 23328 genome.wustl.edu 37 6 148664346 148664346 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015278.3 +1 validated p.V48A 0.999 39 0% 34 35.3% 2 0% benign(0.227) deleterious(0.01) neutral(0.428) NULL SASH1 23328 genome.wustl.edu 37 6 148840733 148840733 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015278.3 +1 validated p.A305T 0.998 115 0% 159 34% 1 100% probably_damaging(0.977) deleterious(0) deleterious(0.863) NULL TAB2 23118 genome.wustl.edu 37 6 149719195 149719195 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015093.4 +1 reviewed p.R619* 1.000 216 0% 261 33.7% 13 7.6% - - - NULL ZC3H12D 340152 genome.wustl.edu 37 6 149795403 149795403 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_207360.2 -1 validated p.V93M 1.000 60 0% 97 39.2% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL ZC3H12D 340152 genome.wustl.edu 37 6 149795674 149795674 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_207360.2 -1 validated p.E2 1.000 19 0% 11 45.5% 0 - - - - NULL LATS1 9113 genome.wustl.edu 37 6 150022965 150022965 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004690.2 -1 reviewed p.E100* 1.000 147 0% 265 22.3% 1 100% - - - superfamily_UBA-like LATS1 9113 genome.wustl.edu 37 6 150023019 150023019 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004690.2 -1 reviewed p.R82* 1.000 179 0% 366 35.2% 1 0% - - - NULL ULBP2 80328 genome.wustl.edu 37 6 150266444 150266444 + Splice_Site SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025217.2 +1 provisional e2-1 0.031 342 0% 672 23.8% 0 - - - - - ULBP3 79465 genome.wustl.edu 37 6 150385730 150385730 + Missense_Mutation SNP T T A rs912558 byCluster;byFrequency;bySubmitter;by2Hit2Allele;by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000438272 -1 known p.L129F 0.000 200 0% 629 40.1% 6 50% possibly_damaging(0.509) deleterious(0.02) deleterious(0.553) superfamily_MHC_I/II-like_Ag-recog ULBP3 79465 genome.wustl.edu 37 6 150387292 150387292 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024518.1 -1 provisional p.H32R 0.000 117 0% 167 27.5% 1 100% probably_damaging(1) deleterious(0.04) deleterious(0.849) superfamily_MHC antigen-recognition domain MTHFD1L 25902 genome.wustl.edu 37 6 151277152 151277152 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015440.3 +1 validated p.F583C 1.000 120 0% 216 31.9% 26 34.6% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMPfam_FTHFS,superfamily_P-loop containing nucleoside triphosphate hydrolases AKAP12 9590 genome.wustl.edu 37 6 151671528 151671528 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005100.3 +1 reviewed p.E668* 1.000 70 0% 199 34.2% 3 33.3% - - - NULL AKAP12 9590 genome.wustl.edu 37 6 151671974 151671974 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005100.3 +1 reviewed p.K816N 1.000 15 0% 39 35.9% 4 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_WSK AKAP12 9590 genome.wustl.edu 37 6 151674853 151674853 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005100.3 +1 reviewed p.K1776T 0.008 124 0% 314 35.4% 11 9% probably_damaging(0.991) deleterious(0.04) deleterious(0.793) NULL C6orf211 79624 genome.wustl.edu 37 6 151789675 151789675 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024573.1 +1 predicted p.L252 0.999 166 0% 226 27% 18 72.2% - - - HMMPfam_DUF89,superfamily_DUF89 C6orf97 80129 genome.wustl.edu 37 6 151894345 151894345 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025059.3 +1 validated p.E271K 0.973 31 0% 83 36.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SYNE1 23345 genome.wustl.edu 37 6 152443792 152443792 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182961.2 -1 reviewed p.D8725N 1.000 59 0% 105 30.5% 10 0% benign(0.025) tolerated(0.23) neutral(0.043) NULL SYNE1 23345 genome.wustl.edu 37 6 152485332 152485332 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182961.2 -1 reviewed p.S7919L 0.977 167 0% 203 25.6% 1 0% benign(0.124) tolerated(0.27) neutral(0.044) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152523035 152523035 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182961.2 -1 reviewed p.R7690Q 0.994 181 0% 247 33.2% 1 0% possibly_damaging(0.439) tolerated(0.37) neutral(0.162) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152539492 152539492 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182961.2 -1 reviewed p.L7364W 0.999 204 0% 266 31.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152583190 152583190 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182961.2 -1 reviewed p.L6317M 1.000 302 0% 366 29% 0 - benign(0.087) tolerated(0.12) neutral(0.267) superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152637963 152637963 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000413186 -1 known p.I5579 0.677 179 0% 217 24.4% 0 - - - - NULL SYNE1 23345 genome.wustl.edu 37 6 152639391 152639391 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182961.2 -1 reviewed p.G5466V 1.000 169 0.6% 257 34.6% 0 - possibly_damaging(0.754) - - HMMSmart_SM00150 SYNE1 23345 genome.wustl.edu 37 6 152642974 152642974 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182961.2 -1 reviewed p.L5322P 1.000 291 0% 428 23.1% 0 - probably_damaging(0.995) - - NULL SYNE1 23345 genome.wustl.edu 37 6 152652445 152652445 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182961.2 -1 reviewed p.L4459F 1.000 146 0% 225 31.1% 0 - probably_damaging(0.999) - - HMMPfam_Spectrin,HMMSmart_SM00150 SYNE1 23345 genome.wustl.edu 37 6 152737754 152737754 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182961.2 -1 reviewed p.G1940R 0.272 249 0.4% 308 34.4% 0 - benign(0.005) - - superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152777024 152777024 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182961.2 -1 reviewed p.F908L 1.000 192 0% 191 25.7% 0 - possibly_damaging(0.706) tolerated(0.14) deleterious(0.504) superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152779939 152779939 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182961.2 -1 reviewed p.L841I 1.000 190 0% 153 27.5% 0 - possibly_damaging(0.878) tolerated(0.47) neutral(0.353) NULL VIP 7432 genome.wustl.edu 37 6 153077320 153077320 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000431366 +1 known p.L79I 0.999 120 0% 52 25% 0 - - - - HMMPfam_Hormone_2,HMMSmart_SM00070,PatternScan_GLUCAGON FBXO5 26271 genome.wustl.edu 37 6 153292504 153292504 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012177.3 -1 reviewed p.R380C 0.970 131 0% 168 28.6% 15 40% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL RGS17 26575 genome.wustl.edu 37 6 153345589 153345589 + Missense_Mutation SNP A A T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012419.4 -1 reviewed p.N84K 1.000 260 0% 261 34.9% 0 - benign(0.375) deleterious(0) deleterious(0.564) HMMPfam_RGS,HMMSmart_RGS,superfamily_Regulat_G_prot_signal_superfam OPRM1 4988 genome.wustl.edu 37 6 154412195 154412195 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145279.1 +1 reviewed p.T344N 1.000 299 0% 399 32.1% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OPRM1 4988 genome.wustl.edu 37 6 154412548 154412548 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145279.1 +1 reviewed p.R462C 0.995 27 0% 39 28.2% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) superfamily_SSF81321 OPRM1 4988 genome.wustl.edu 37 6 154439827 154439827 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145279.1 +1 reviewed p.L485M 1.000 229 0% 267 38.6% 0 - benign(0.083) tolerated(0.26) neutral(0.040) NULL CNKSR3 154043 genome.wustl.edu 37 6 154727613 154727613 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173515.2 -1 validated p.A515T 1.000 108 0% 151 31.1% 10 50% possibly_damaging(0.822) deleterious(0.01) deleterious(0.717) HMMPfam_DUF1170 SCAF8 22828 genome.wustl.edu 37 6 155129920 155129920 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014892.3 +1 validated p.R405Q 1.000 223 0% 272 32.7% 6 0% unknown(0) deleterious(0.02) - NULL SCAF8 22828 genome.wustl.edu 37 6 155145367 155145367 + Splice_Site SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014892.3 +1 validated e17-1 1.000 219 0.5% 204 32.8% 0 - - - - - SCAF8 22828 genome.wustl.edu 37 6 155154099 155154099 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014892.3 +1 validated p.R1129Q 0.998 116 0% 141 31.9% 7 71.4% probably_damaging(0.989) deleterious(0) deleterious(0.884) NULL TIAM2 26230 genome.wustl.edu 37 6 155485641 155485641 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012454.3 +1 reviewed p.P707 0.042 57 0% 47 36.2% 0 - - - - NULL TIAM2 26230 genome.wustl.edu 37 6 155504465 155504465 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012454.3 +1 reviewed p.S965 0.994 93 0% 173 31.8% 0 - - - - HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like TIAM2 26230 genome.wustl.edu 37 6 155565822 155565822 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012454.3 +1 reviewed p.M1150V 1.000 319 0% 384 34.6% 0 - probably_damaging(0.991) deleterious(0.04) deleterious(0.793) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) TIAM2 26230 genome.wustl.edu 37 6 155574087 155574087 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012454.3 +1 reviewed p.S1375 0.001 206 0% 297 31.6% 1 0% - - - HMMSmart_SM00233,superfamily_PH domain-like TFB1M 51106 genome.wustl.edu 37 6 155581427 155581427 + Missense_Mutation SNP T T A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016020.2 -1 validated p.K258N 0.891 196 0% 319 33.2% 22 22.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RrnaAD,superfamily_SSF53335 TFB1M 51106 genome.wustl.edu 37 6 155632338 155632338 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016020.2 -1 validated p.F90C 1.000 140 0% 202 37.1% 12 41.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RrnaAD,HMMSmart_rADc,superfamily_SSF53335 ARID1B 57492 genome.wustl.edu 37 6 157527507 157527507 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017519.2 +1 validated p.D1726 0.815 136 0% 206 35.4% 23 65.2% - - - NULL ZDHHC14 79683 genome.wustl.edu 37 6 158049496 158049496 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000341375 +1 known p.S111L 1.000 211 0% 267 30.7% 5 0% - - - NULL SYNJ2 8871 genome.wustl.edu 37 6 158490642 158490642 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003898.3 +1 reviewed p.S626L 0.994 236 0% 371 33.7% 5 20% probably_damaging(0.998) tolerated(0.1) deleterious(0.761) HMMSmart_SM00128,HMMPfam_Exo_endo_phos,superfamily_DNase I-like GTF2H5 404672 genome.wustl.edu 37 6 158613125 158613125 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_207118.2 +1 reviewed p.N51S 0.910 96 0% 222 31.5% 65 16.9% benign(0) tolerated(0.59) neutral(0.004) HMMPfam_Tbf5 EZR 7430 genome.wustl.edu 37 6 159197491 159197491 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001111077.1 -1 reviewed p.I248 1.000 228 0% 363 28.4% 250 48% - - - HMMPfam_FERM_C,superfamily_SSF50729 RSPH3 83861 genome.wustl.edu 37 6 159407451 159407451 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031924.4 -1 validated p.L211 0.000 189 0% 358 35.5% 4 50% - - - HMMPfam_Radial_spoke_3 TAGAP 117289 genome.wustl.edu 37 6 159464681 159464681 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_054114.3 -1 reviewed p.I30V 0.669 167 0% 176 35.2% 1 0% benign(0.001) tolerated(0.85) neutral(0.001) NULL TAGAP 117289 genome.wustl.edu 37 6 159465015 159465015 + Missense_Mutation SNP A A G rs181275709 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_054114.3 -1 reviewed p.S26P 0.857 457 0% 586 32.3% 1 0% benign(0.005) tolerated(0.07) neutral(0.319) NULL FNDC1 84624 genome.wustl.edu 37 6 159653159 159653159 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032532.2 +1 validated p.E539* 0.007 38 0% 58 27.6% 1 0% - - - NULL FNDC1 84624 genome.wustl.edu 37 6 159653499 159653499 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032532.2 +1 validated p.R652H 0.000 28 0% 17 35.3% 2 0% unknown(0) tolerated(0.07) - NULL FNDC1 84624 genome.wustl.edu 37 6 159654782 159654782 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032532.2 +1 validated p.D1080N 0.000 14 0% 22 36.4% 4 0% unknown(0) deleterious(0.03) - NULL SOD2 6648 genome.wustl.edu 37 6 160113601 160113601 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000452684 -1 known p.E127D 0.000 41 0% 77 40.3% 0 - unknown(0) deleterious(0.01) - NULL WTAP 9589 genome.wustl.edu 37 6 160176573 160176573 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004906.3 +1 reviewed p.R374Q 1.000 44 0% 140 40.7% 72 50% possibly_damaging(0.783) deleterious(0.02) deleterious(0.676) NULL TCP1 6950 genome.wustl.edu 37 6 160201987 160201987 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030752.2 -1 reviewed p.R318H 1.000 201 0% 254 36.6% 270 48.8% possibly_damaging(0.869) tolerated(0.12) deleterious(0.598) HMMPfam_Cpn60_TCP1,superfamily_GroEL-ATPase,superfamily_SSF52029,superfamily_SSF54849 IGF2R 3482 genome.wustl.edu 37 6 160496917 160496917 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000876.2 +1 reviewed p.P1735 0.001 158 0% 310 30.6% 46 54.3% - - - HMMPfam_CIMR,superfamily_Mannose 6-phosphate receptor domain SLC22A2 6582 genome.wustl.edu 37 6 160677706 160677706 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003058.2 -1 reviewed p.Q153R 1.000 144 0% 209 34% 0 - probably_damaging(0.992) deleterious(0.01) deleterious(0.853) HMMPfam_Sugar_tr,superfamily_MFS general substrate transporter SLC22A2 6582 genome.wustl.edu 37 6 160679619 160679619 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003058.2 -1 reviewed p.A57 0.221 43 0% 40 37.5% 0 - - - - NULL LPA 4018 genome.wustl.edu 37 6 160952882 160952882 + Missense_Mutation SNP T T A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005577.2 -1 reviewed p.K2001I 1.000 334 0% 444 21.4% 0 - benign(0.304) tolerated(0.11) neutral(0.366) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases LPA 4018 genome.wustl.edu 37 6 160966540 160966540 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005577.2 -1 reviewed p.I1777T 0.037 222 0% 292 41.1% 0 - benign(0.138) tolerated(0.23) neutral(0.053) HMMPfam_Kringle,HMMSmart_SM00130,superfamily_Kringle-like,PatternScan_KRINGLE_1 MAP3K4 4216 genome.wustl.edu 37 6 161470457 161470457 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005922.2 +1 reviewed p.D385Y 1.000 157 0% 183 24.6% 11 27.2% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL MAP3K4 4216 genome.wustl.edu 37 6 161470555 161470555 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005922.2 +1 reviewed p.K417N 1.000 167 0% 155 30.3% 7 28.5% possibly_damaging(0.935) tolerated(0.14) deleterious(0.630) NULL PARK2 5071 genome.wustl.edu 37 6 162394380 162394380 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004562.2 -1 reviewed p.A230T 1.000 212 0% 429 31.9% 0 - benign(0) tolerated(0.18) neutral(0.056) NULL SFT2D1 113402 genome.wustl.edu 37 6 166743676 166743676 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145169.1 -1 provisional p.F41 0.992 107 0% 157 21% 56 35.7% - - - HMMPfam_SFT2 RPS6KA2 6196 genome.wustl.edu 37 6 166836822 166836822 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001006932.1 -1 reviewed p.F563 1.000 58 0% 76 31.6% 4 0% - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase RNASET2 8635 genome.wustl.edu 37 6 167360176 167360176 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003730.4 -1 reviewed p.E85D 1.000 86 0% 116 32.8% 47 31.9% probably_damaging(0.991) tolerated(0.32) neutral(0.468) HMMPfam_Ribonuclease_T2,superfamily_Ribonuclease Rh-like FGFR1OP 11116 genome.wustl.edu 37 6 167436091 167436091 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007045.2 +1 reviewed p.D258 1.000 57 0% 91 29.7% 19 26.3% - - - NULL CCR6 1235 genome.wustl.edu 37 6 167550090 167550090 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004367.5 +1 reviewed p.I124 1.000 109 0% 194 30.4% 1 0% - - - HMMPfam_7tm_1,superfamily_SSF81321 CCR6 1235 genome.wustl.edu 37 6 167550188 167550188 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004367.5 +1 reviewed p.R157Q 0.009 93 0% 132 34.1% 1 0% probably_damaging(0.979) deleterious(0.01) deleterious(0.828) HMMPfam_7tm_1,superfamily_SSF81321 GPR31 2853 genome.wustl.edu 37 6 167570858 167570858 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005299.2 -1 validated p.E154D 0.000 32 0% 42 33.3% 0 - benign(0.01) tolerated(0.62) neutral(0.005) HMMPfam_7tm_1,superfamily_SSF81321 UNC93A 54346 genome.wustl.edu 37 6 167719501 167719501 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018974.3 +1 validated p.V313 0.530 207 0% 226 38.9% 0 - - - - superfamily_MFS_gen_substrate_transporter UNC93A 54346 genome.wustl.edu 37 6 167721356 167721356 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018974.3 +1 validated p.L356M 1.000 120 0% 116 42.2% 0 - benign(0.422) tolerated(0.09) neutral(0.433) superfamily_MFS_gen_substrate_transporter TTLL2 83887 genome.wustl.edu 37 6 167754223 167754223 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031949.4 +1 validated p.R279W 0.030 175 0% 243 34.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TTL,superfamily_Glutathione synthetase ATP-binding domain-like TTLL2 83887 genome.wustl.edu 37 6 167754699 167754699 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031949.4 +1 validated p.I437 0.000 120 0% 244 28.3% 0 - - - - NULL TTLL2 83887 genome.wustl.edu 37 6 167754758 167754758 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031949.4 +1 validated p.S457Y 0.021 104 0% 192 40.6% 0 - probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL TCP10 6953 genome.wustl.edu 37 6 167787912 167787912 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004610.3 -1 validated p.S239Y 0.000 459 0% 581 18.4% 0 - possibly_damaging(0.911) deleterious(0) deleterious(0.807) HMMPfam_Tcp10_C MLLT4 4301 genome.wustl.edu 37 6 168276043 168276043 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001040001.1 +1 validated p.Y202D 1.000 127 0% 81 29.6% 5 0% possibly_damaging(0.826) deleterious(0) deleterious(0.758) NULL MLLT4 4301 genome.wustl.edu 37 6 168303009 168303009 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001040001.1 +1 validated p.E530D 1.000 342 0.3% 458 28.8% 15 73.3% benign(0.235) tolerated(0.09) neutral(0.320) NULL KIF25 3834 genome.wustl.edu 37 6 168443279 168443279 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030615.2 +1 reviewed p.A290T 0.119 99 0% 85 20% 0 - benign(0.02) tolerated(0.08) neutral(0.301) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases KIF25 3834 genome.wustl.edu 37 6 168445512 168445512 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030615.2 +1 reviewed p.D331N 0.958 200 0% 245 29.8% 0 - probably_damaging(0.994) tolerated(0.76) neutral(0.453) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases KIF25 3834 genome.wustl.edu 37 6 168445517 168445517 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030615.2 +1 reviewed p.A332 0.024 209 0.5% 236 33.1% 0 - - - - HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases DACT2 168002 genome.wustl.edu 37 6 168709108 168709108 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_214462.3 -1 validated p.S443R 0.002 166 0% 170 27.6% 1 0% probably_damaging(0.99) deleterious(0.05) deleterious(0.787) NULL THBS2 7058 genome.wustl.edu 37 6 169632885 169632885 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003247.2 -1 reviewed p.F602L 0.991 76 0% 83 37.3% 17 0% possibly_damaging(0.569) tolerated(0.05) deleterious(0.540) HMMSmart_EGF,HMMPfam_EGF_CA,superfamily_SSF57196 THBS2 7058 genome.wustl.edu 37 6 169639737 169639737 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003247.2 -1 reviewed p.S362 0.465 177 0% 239 35.6% 13 0% - - - HMMPfam_VWC,HMMSmart_VWC,PatternScan_VWFC_1 THBS2 7058 genome.wustl.edu 37 6 169640686 169640686 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003247.2 -1 reviewed p.S298L 1.000 102 0% 126 23% 10 0% benign(0.269) deleterious(0.02) neutral(0.412) NULL WDR27 253769 genome.wustl.edu 37 6 170002355 170002355 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182552.3 -1 validated p.P795H 0.983 95 0% 110 31.8% 6 16.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00320,superfamily_WD40 repeat-like PHF10 55274 genome.wustl.edu 37 6 170112516 170112516 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018288.3 -1 reviewed p.R308Q 0.935 281 0% 320 30.3% 29 13.7% benign(0.17) tolerated(0.37) neutral(0.035) NULL PHF10 55274 genome.wustl.edu 37 6 170118935 170118935 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018288.3 -1 reviewed p.E92* 1.000 140 0% 164 39.6% 24 16.6% - - - NULL LINC00574 80069 genome.wustl.edu 37 6 170190293 170190293 + RNA SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NR_026780.1 +1 validated NULL 0.001 285 0% 367 32.7% 0 - - - - - LINC00574 80069 genome.wustl.edu 37 6 170190318 170190318 + RNA SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NR_026780.1 +1 validated NULL 0.000 254 0% 335 34.9% 0 - - - - - DLL1 28514 genome.wustl.edu 37 6 170594343 170594343 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005618.3 -1 reviewed p.T344M 1.000 150 0% 244 34.4% 6 33.3% possibly_damaging(0.742) deleterious(0.03) deleterious(0.637) PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,superfamily_EGF/Laminin PSMB1 5689 genome.wustl.edu 37 6 170852802 170852802 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002793.3 -1 reviewed p.N107T 0.993 170 0% 256 37.5% 389 42.1% benign(0.042) deleterious(0) neutral(0.447) HMMPfam_Proteasome,superfamily_SSF56235 TBP 6908 genome.wustl.edu 37 6 170873691 170873691 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003194.4 +1 reviewed p.R186C 1.000 126 0% 210 26.7% 12 58.3% unknown(0) deleterious(0.02) - HMMPfam_TBP,superfamily_TFIID_C/glycos_N FAM20C 56975 genome.wustl.edu 37 7 296993 296993 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000510839 +1 known p.R175* 0.985 76 0% 159 35.2% 47 0% - - - HMMPfam_DUF1193 HEATR2 54919 genome.wustl.edu 37 7 814701 814701 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017802.3 +1 validated p.S714L 0.382 159 0% 296 31.8% 37 29.7% possibly_damaging(0.856) tolerated(0.06) deleterious(0.653) superfamily_ARM repeat SUN1 23353 genome.wustl.edu 37 7 905627 905627 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001130965.2 +1 reviewed p.E635K 1.000 155 0% 200 31.5% 50 42% benign(0.147) tolerated(0.27) neutral(0.046) NULL COX19 90639 genome.wustl.edu 37 7 1009065 1009065 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001031617.2 -1 validated p.E74D 0.980 272 0% 411 33.8% 16 25% possibly_damaging(0.69) tolerated(0.28) neutral(0.278) NULL COX19 90639 genome.wustl.edu 37 7 1012843 1012843 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001031617.2 -1 validated p.K56N 1.000 236 0% 466 33% 18 22.2% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_CHCH ELFN1 392617 genome.wustl.edu 37 7 1785513 1785513 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001128636.2 +1 validated p.F427 0.992 31 0% 38 26.3% 1 0% - - - NULL EIF3B 8662 genome.wustl.edu 37 7 2414170 2414170 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001037283.1 +1 validated p.F606 0.993 107 0% 158 32.9% 224 39.7% - - - HMMPfam_eIF2A,superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain CHST12 55501 genome.wustl.edu 37 7 2472713 2472713 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018641.3 +1 validated p.D147N 1.000 10 0% 16 37.5% 10 30% benign(0.188) deleterious(0.03) neutral(0.382) HMMPfam_Sulfotransfer_2 CARD11 84433 genome.wustl.edu 37 7 2959050 2959050 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032415.3 -1 validated p.F822L 1.000 63 0% 68 35.3% 1 0% benign(0.001) tolerated(0.51) neutral(0.009) NULL CARD11 84433 genome.wustl.edu 37 7 2966406 2966406 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032415.3 -1 validated p.D592Y 0.986 84 0% 140 29.3% 2 0% possibly_damaging(0.455) deleterious(0) deleterious(0.594) NULL CARD11 84433 genome.wustl.edu 37 7 2974137 2974137 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032415.3 -1 validated p.F490V 1.000 92 0% 193 32.1% 3 0% probably_damaging(0.981) tolerated(0.29) neutral(0.455) NULL SDK1 221935 genome.wustl.edu 37 7 3658798 3658798 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152744.3 +1 validated p.E129K 1.000 114 0% 124 28.2% 0 - possibly_damaging(0.749) tolerated(0.28) neutral(0.306) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin SDK1 221935 genome.wustl.edu 37 7 4152925 4152925 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152744.3 +1 validated p.R1147* 0.998 155 0% 220 29.5% 1 0% - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III FOXK1 221937 genome.wustl.edu 37 7 4799036 4799036 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001037165.1 +1 validated p.I502 0.095 16 0% 13 38.5% 6 50% - - - NULL KIAA0415 9907 genome.wustl.edu 37 7 4823929 4823929 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014855.1 +1 validated p.N239 1.000 15 0% 17 29.4% 38 36.8% - - - NULL RBAK 57786 genome.wustl.edu 37 7 5103513 5103513 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021163.3 +1 reviewed p.K142N 0.039 123 0% 177 27.1% 1 100% possibly_damaging(0.604) tolerated(0.32) neutral(0.233) NULL WIPI2 26100 genome.wustl.edu 37 7 5256785 5256785 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015610.3 +1 validated p.I181 0.970 121 0% 246 31.3% 67 44.7% - - - superfamily_WD40 repeat-like SLC29A4 222962 genome.wustl.edu 37 7 5334518 5334518 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001040661.1 +1 reviewed p.T191M 1.000 37 0% 48 41.7% 3 33.3% benign(0.13) tolerated(0.2) neutral(0.060) HMMPfam_Nucleoside_tran,superfamily_MFS general substrate transporter RNF216 54476 genome.wustl.edu 37 7 5754774 5754774 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_207111.2 -1 reviewed p.F581 0.821 81 0% 124 41.1% 34 44.1% - - - NULL OCM 654231 genome.wustl.edu 37 7 5925716 5925716 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001097622.1 +1 validated p.S109Y 1.000 235 0% 497 29.2% 0 - probably_damaging(0.953) deleterious(0) deleterious(0.841) HMMSmart_EFh,HMMPfam_efhand CCZ1 51622 genome.wustl.edu 37 7 5951508 5951508 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015622.5 +1 validated p.S266Y 1.000 339 0% 710 20.8% 25 44% possibly_damaging(0.917) tolerated(0.15) deleterious(0.609) HMMPfam_DUF2049 RSPH10B 222967 genome.wustl.edu 37 7 6006733 6006733 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173565.3 -1 validated p.K5N 1.000 104 0% 273 17.2% 0 - probably_damaging(0.976) deleterious(0) deleterious(0.863) NULL PMS2 5395 genome.wustl.edu 37 7 6026643 6026643 + Missense_Mutation SNP G G T rs63750947 TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000535.5 -1 reviewed p.L585I 0.000 87 0% 134 32.8% 3 33.3% benign(0.125) tolerated(0.53) neutral(0.018) NULL PMS2 5395 genome.wustl.edu 37 7 6043660 6043660 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000535.5 -1 reviewed p.L65I 0.990 155 0% 288 32.6% 4 0% probably_damaging(0.995) tolerated(0.44) deleterious(0.470) HMMPfam_HATPase_c,superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase USP42 84132 genome.wustl.edu 37 7 6180592 6180592 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032172.2 +1 validated p.L258I 1.000 120 0% 161 26.1% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_UCH,superfamily_SSF54001 GRID2IP 392862 genome.wustl.edu 37 7 6579372 6579372 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145118.1 -1 validated p.C187 0.006 36 0% 50 40% 0 - - - - NULL ENSG00000198580 0 genome.wustl.edu 37 7 6715650 6715650 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000401847 +1 known p.G277* 0.909 25 0% 35 22.9% 0 - - - - HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF12 7559 genome.wustl.edu 37 7 6730531 6730531 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016265.3 -1 reviewed p.R681I 1.000 179 0% 206 29.1% 0 - probably_damaging(0.996) tolerated(0.09) deleterious(0.758) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF12 7559 genome.wustl.edu 37 7 6730647 6730647 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016265.3 -1 reviewed p.F642 0.989 220 0% 245 36.3% 6 33.3% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 RSPH10B2 728194 genome.wustl.edu 37 7 6798760 6798760 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001099697.1 +1 provisional p.F100 0.991 284 0% 771 15.8% 0 - - - - HMMPfam_MORN,superfamily_Histone H3 K4-specific methyltransferase SET7/9 N-terminal domain RSPH10B2 728194 genome.wustl.edu 37 7 6826645 6826645 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001099697.1 +1 provisional p.L668R 0.000 236 0% 495 20.2% 0 - benign(0.139) tolerated(0.15) neutral(0.253) NULL CCZ1B 221960 genome.wustl.edu 37 7 6861921 6861921 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198097.2 -1 predicted p.F171L 1.000 76 0% 117 26.5% 23 26% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF2049 COL28A1 340267 genome.wustl.edu 37 7 7476037 7476037 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001037763.2 -1 validated p.R617* 1.000 250 0% 264 25.8% 0 - - - - NULL COL28A1 340267 genome.wustl.edu 37 7 7571429 7571429 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001037763.2 -1 validated p.K77N 0.984 88 0% 82 39% 0 - benign(0.009) tolerated(0.18) neutral(0.057) HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like MIOS 54468 genome.wustl.edu 37 7 7613271 7613271 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019005.3 +1 validated p.D389Y 1.000 80 0% 74 21.6% 11 54.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL NXPH1 30010 genome.wustl.edu 37 7 8790784 8790784 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152745.2 +1 reviewed p.E67D 0.995 112 0% 108 27.8% 0 - benign(0.002) tolerated(0.1) neutral(0.286) HMMPfam_Neurexophilin LOC340268 340268 genome.wustl.edu 37 7 9767390 9767390 + RNA SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XR_041608.1 +1 model NULL 0.953 120 0% 151 32.5% 0 - - - - - THSD7A 221981 genome.wustl.edu 37 7 11676391 11676391 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015204.2 -1 validated p.N130H 1.000 197 0% 257 41.6% 1 100% probably_damaging(0.963) tolerated(0.39) neutral(0.422) superfamily_TSP-1 type 1 repeat VWDE 221806 genome.wustl.edu 37 7 12410289 12410289 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001135924.1 -1 provisional p.E597* 1.000 91 0% 43 34.9% 0 - - - - NULL VWDE 221806 genome.wustl.edu 37 7 12419133 12419133 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001135924.1 -1 provisional p.I283 0.000 142 0% 164 36.6% 0 - - - - NULL VWDE 221806 genome.wustl.edu 37 7 12428878 12428878 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001135924.1 -1 provisional p.Q117P 1.000 132 0% 143 38.5% 0 - benign(0.139) tolerated(0.29) neutral(0.041) NULL SCIN 85477 genome.wustl.edu 37 7 12617779 12617779 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001112706.2 +1 validated p.R97I 1.000 168 0% 187 39% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00262,HMMPfam_Gelsolin,superfamily_Actin depolymerizing proteins SCIN 85477 genome.wustl.edu 37 7 12668785 12668785 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001112706.2 +1 validated p.F419L 1.000 269 0% 318 29.6% 3 0% probably_damaging(0.997) tolerated(0.12) deleterious(0.727) HMMSmart_SM00262,HMMPfam_Gelsolin,superfamily_Actin depolymerizing proteins,superfamily_C-terminal gelsolin-like domain of Sec23/24 ETV1 2115 genome.wustl.edu 37 7 13946090 13946090 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004956.4 -1 validated p.R359* 0.992 171 0% 159 35.2% 4 25% - - - "HMMPfam_Ets,HMMSmart_SM00413,superfamily_""Winged helix"" DNA-binding domain" DGKB 1607 genome.wustl.edu 37 7 14378211 14378211 + Missense_Mutation SNP C C T rs61753126 byCluster;byFrequency;by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004080.2 -1 reviewed p.R685Q 0.119 282 0% 209 36.4% 0 - benign(0.129) tolerated(0.21) neutral(0.055) HMMPfam_DAGK_acc,HMMSmart_SM00045 DGKB 1607 genome.wustl.edu 37 7 14378231 14378231 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004080.2 -1 reviewed p.K678N 1.000 266 0% 194 34.5% 0 - benign(0.006) deleterious(0.05) neutral(0.345) HMMPfam_DAGK_acc,HMMSmart_SM00045 AGMO 392636 genome.wustl.edu 37 7 15427133 15427133 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004320.1 -1 provisional p.F285L 1.000 121 0% 130 26.2% 2 0% benign(0.361) tolerated(0.49) neutral(0.125) NULL ISPD 729920 genome.wustl.edu 37 7 16445746 16445746 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001101426.3 -1 validated p.V158 1.000 307 0% 276 32.2% 2 50% - - - HMMPfam_IspD,PatternScan_ISPD,superfamily_SSF53448 BZW2 28969 genome.wustl.edu 37 7 16729529 16729529 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014038.2 +1 validated p.L217F 1.000 197 0% 211 34.6% 69 56.5% possibly_damaging(0.925) deleterious(0.03) deleterious(0.738) NULL AHR 196 genome.wustl.edu 37 7 17362185 17362185 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001621.4 +1 validated p.N105T 0.156 200 0% 221 29% 7 57.1% benign(0) tolerated(0.38) neutral(0.018) NULL SNX13 23161 genome.wustl.edu 37 7 17855901 17855901 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015132.4 -1 reviewed p.L619 0.425 80 0% 53 32.1% 4 25% - - - HMMPfam_PX,HMMSmart_SM00312,superfamily_PX domain HDAC9 9734 genome.wustl.edu 37 7 18687588 18687588 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178425.2 +1 reviewed p.E406* 1.000 110 0% 89 32.6% 1 0% - - - NULL TWISTNB 221830 genome.wustl.edu 37 7 19737968 19737968 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001002926.1 -1 validated p.K330Q 1.000 277 0% 181 32.6% 7 85.7% possibly_damaging(0.515) deleterious(0) deleterious(0.618) NULL MACC1 346389 genome.wustl.edu 37 7 20198862 20198862 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182762.3 -1 validated p.I374M 0.992 82 0% 81 33.3% 0 - possibly_damaging(0.911) deleterious(0.02) deleterious(0.746) NULL ABCB5 340273 genome.wustl.edu 37 7 20725412 20725412 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178559.5 +1 validated p.K210E 0.347 118 0% 131 34.4% 0 - benign(0.001) tolerated(0.51) neutral(0.009) NULL ABCB5 340273 genome.wustl.edu 37 7 20762822 20762822 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178559.5 +1 validated p.E424* 1.000 182 0% 285 32.3% 0 - - - - HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain SP4 6671 genome.wustl.edu 37 7 21469068 21469068 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000446800 +1 known p.R72H 0.979 96 0% 172 34.3% 2 50% unknown(0) - - NULL SP4 6671 genome.wustl.edu 37 7 21469411 21469411 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003112.3 +1 validated p.A210T 1.000 61 0% 135 31.1% 1 100% benign(0) tolerated(0.24) neutral(0.037) NULL DNAH11 8701 genome.wustl.edu 37 7 21628825 21628825 + Splice_Site SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003777.3 +1 reviewed e12-1 1.000 207 0% 186 21.5% 0 - - - - - DNAH11 8701 genome.wustl.edu 37 7 21630554 21630554 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003777.3 +1 reviewed p.E730* 1.000 159 0% 114 31.6% 0 - - - - HMMPfam_DHC_N1 DNAH11 8701 genome.wustl.edu 37 7 21675558 21675558 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003777.3 +1 reviewed p.N1529H 0.997 180 0% 301 32.6% 0 - possibly_damaging(0.835) deleterious(0.03) deleterious(0.683) HMMPfam_DHC_N2 DNAH11 8701 genome.wustl.edu 37 7 21827137 21827137 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003777.3 +1 reviewed p.R3294Q 1.000 188 0% 167 33.5% 0 - probably_damaging(1) tolerated(0.4) deleterious(0.516) NULL DNAH11 8701 genome.wustl.edu 37 7 21906202 21906202 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003777.3 +1 reviewed p.E3878* 1.000 155 0% 275 33.8% 1 0% - - - HMMPfam_Dynein_heavy DNAH11 8701 genome.wustl.edu 37 7 21912930 21912930 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003777.3 +1 reviewed p.E4009 1.000 116 0% 100 39% 1 0% - - - HMMPfam_Dynein_heavy DNAH11 8701 genome.wustl.edu 37 7 21934337 21934337 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003777.3 +1 reviewed p.L4290I 0.979 261 0% 344 29.9% 1 100% probably_damaging(1) tolerated(0.75) deleterious(0.501) HMMPfam_Dynein_heavy ENSG00000105889 0 genome.wustl.edu 37 7 22478172 22478172 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000404369 -1 known p.F322C 0.003 199 0% 230 29.1% 0 - unknown(0) - - NULL FAM126A 84668 genome.wustl.edu 37 7 23030716 23030716 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032581.3 -1 reviewed p.E5D 0.997 314 0% 283 24.4% 3 66.6% benign(0) tolerated(0.48) neutral(0.011) HMMPfam_Hyccin NUPL2 11097 genome.wustl.edu 37 7 23240207 23240207 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007342.2 +1 validated p.S372Y 0.087 166 0% 245 35.1% 51 29.4% possibly_damaging(0.924) deleterious(0.02) deleterious(0.756) NULL IGF2BP3 10643 genome.wustl.edu 37 7 23383437 23383437 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006547.2 -1 reviewed p.T326N 1.000 231 0% 327 34.9% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) IGF2BP3 10643 genome.wustl.edu 37 7 23387298 23387298 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006547.2 -1 reviewed p.L247F 1.000 158 0% 295 33.2% 1 0% benign(0) tolerated(0.1) neutral(0.286) HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) C7orf46 340277 genome.wustl.edu 37 7 23724210 23724210 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_199136.3 +1 validated p.R53I 1.000 195 0% 262 31.3% 2 50% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL STK31 56164 genome.wustl.edu 37 7 23768848 23768848 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031414.3 +1 reviewed p.E155* 1.000 173 0% 203 36.9% 0 - - - - NULL STK31 56164 genome.wustl.edu 37 7 23775303 23775303 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031414.3 +1 reviewed p.E210D 1.000 152 0% 238 34.9% 0 - probably_damaging(0.991) tolerated(0.13) deleterious(0.697) NULL STK31 56164 genome.wustl.edu 37 7 23802448 23802448 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031414.3 +1 reviewed p.R441I 1.000 173 0.6% 255 32.2% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL STK31 56164 genome.wustl.edu 37 7 23826172 23826172 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031414.3 +1 reviewed p.A774T 1.000 155 0% 121 32.2% 4 75% probably_damaging(0.994) deleterious(0.03) deleterious(0.817) HMMSmart_SM00220 OSBPL3 26031 genome.wustl.edu 37 7 24859814 24859814 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015550.2 -1 reviewed p.R643I 0.124 166 0% 255 32.9% 11 63.6% benign(0.001) deleterious(0.05) neutral(0.345) HMMPfam_Oxysterol_BP OSBPL3 26031 genome.wustl.edu 37 7 24901308 24901308 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015550.2 -1 reviewed p.K317N 0.999 199 0% 295 29.8% 11 9% possibly_damaging(0.515) tolerated(0.28) neutral(0.205) NULL OSBPL3 26031 genome.wustl.edu 37 7 24903219 24903219 + Splice_Site SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015550.2 -1 reviewed e7-1 1.000 100 0% 146 30.1% 2 100% - - - - HOXA3 3200 genome.wustl.edu 37 7 27147924 27147924 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030661.4 -1 reviewed p.A314 0.869 17 0% 16 43.8% 1 0% - - - NULL HOXA6 3203 genome.wustl.edu 37 7 27187135 27187135 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024014.2 -1 reviewed p.C78 0.998 83 0% 89 40.4% 2 0% - - - NULL HOXA11 3207 genome.wustl.edu 37 7 27224386 27224386 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005523.5 -1 reviewed p.F126L 1.000 41 0% 40 30% 16 0% possibly_damaging(0.662) tolerated(0.13) deleterious(0.487) NULL HIBADH 11112 genome.wustl.edu 37 7 27570855 27570855 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152740.2 -1 validated p.A270T 0.997 149 0% 137 32.1% 17 17.6% benign(0.047) deleterious(0.04) neutral(0.352) superfamily_6-phosphogluconate dehydrogenase C-terminal domain-like TAX1BP1 8887 genome.wustl.edu 37 7 27827194 27827194 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006024.5 +1 validated p.R337I 1.000 98 0% 154 33.1% 68 41.1% possibly_damaging(0.946) deleterious(0) deleterious(0.835) HMMPfam_CALCOCO1 CREB5 9586 genome.wustl.edu 37 7 28858791 28858791 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182898.2 +1 reviewed p.I474 1.000 170 0% 145 27.6% 2 50% - - - NULL CHN2 1124 genome.wustl.edu 37 7 29394237 29394237 + Splice_Site SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000409964 +1 known e1-2 0.996 112 0% 134 34.3% 0 - - - - - CHN2 1124 genome.wustl.edu 37 7 29433323 29433323 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000409350 +1 known p.E42* 1.000 83 0% 47 25.5% 0 - - - - NULL SCRN1 9805 genome.wustl.edu 37 7 29980430 29980430 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145514.1 -1 reviewed p.E223* 1.000 108 0% 157 34.4% 14 0% - - - NULL PLEKHA8 84725 genome.wustl.edu 37 7 30090074 30090074 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032639.2 +1 provisional p.H208N 1.000 145 0% 118 37.3% 7 28.5% possibly_damaging(0.7) tolerated(0.34) neutral(0.275) NULL PLEKHA8 84725 genome.wustl.edu 37 7 30101579 30101579 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032639.2 +1 provisional p.E389K 0.997 130 0% 145 31.7% 12 16.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_GLTP,superfamily_Glycolipid_transfer_prot FAM188B 84182 genome.wustl.edu 37 7 30818144 30818144 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032222.2 +1 validated p.E54* 0.183 155 0% 167 26.9% 3 100% - - - NULL AQP1 358 genome.wustl.edu 37 7 30951578 30951578 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198098.2 +1 reviewed p.F18L 1.000 43 0% 44 20.5% 14 0% probably_damaging(0.993) tolerated(0.29) deleterious(0.479) HMMPfam_MIP,superfamily_Aquaporin-like CCDC129 223075 genome.wustl.edu 37 7 31682892 31682892 + Silent SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_194300.2 +1 validated p.P636 0.000 105 0% 190 38.9% 0 - - - - NULL CCDC129 223075 genome.wustl.edu 37 7 31692199 31692199 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_194300.2 +1 validated p.E964G 0.997 78 0% 125 32.8% 0 - benign(0.002) deleterious(0) neutral(0.445) NULL PPP1R17 10842 genome.wustl.edu 37 7 31735209 31735209 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006658.3 +1 validated p.A70V 0.814 139 0% 127 18.9% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL PDE1C 5137 genome.wustl.edu 37 7 31887647 31887647 + Silent SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005020.1 -1 provisional p.A305 0.938 163 0% 102 32.4% 0 - - - - HMMPfam_PDEase_I,HMMSmart_HDc,superfamily_SSF109604 AVL9 23080 genome.wustl.edu 37 7 32582761 32582761 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015060.1 +1 provisional p.F34L 1.000 157 0% 233 27.9% 7 57.1% probably_damaging(0.972) deleterious(0.01) deleterious(0.820) HMMPfam_Avl9 KBTBD2 25948 genome.wustl.edu 37 7 32910450 32910450 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015483.2 -1 validated p.K127Q 1.000 52 0% 85 32.9% 5 80% possibly_damaging(0.917) deleterious(0.04) deleterious(0.717) HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB FKBP9 11328 genome.wustl.edu 37 7 33020089 33020089 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007270.3 +1 validated p.R273W 1.000 139 0% 318 35.8% 103 35.9% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_FKBP_C,superfamily_SSF54534 BBS9 27241 genome.wustl.edu 37 7 33545174 33545174 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198428.2 +1 reviewed p.A739T 0.090 123 0% 107 29% 14 35.7% benign(0.004) tolerated(0.11) neutral(0.272) NULL BMPER 168667 genome.wustl.edu 37 7 34094877 34094877 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_133468.3 +1 validated p.D297Y 1.000 130 0% 121 40.5% 0 - benign(0.049) tolerated(0.51) neutral(0.012) NULL DPY19L1 23333 genome.wustl.edu 37 7 34977697 34977697 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015283.1 -1 validated p.R594W 1.000 287 0% 259 31.7% 12 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF2211 HERPUD2 64224 genome.wustl.edu 37 7 35674825 35674825 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000426180 -1 known p.D187N 0.951 203 0% 241 34.9% 7 14.2% - - - NULL AOAH 313 genome.wustl.edu 37 7 36661331 36661331 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001637.3 -1 reviewed p.V213A 0.000 146 0% 125 34.4% 1 0% benign(0.003) tolerated(0.15) neutral(0.241) NULL ELMO1 9844 genome.wustl.edu 37 7 37251016 37251016 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014800.9 -1 reviewed p.R354Q 1.000 189 0% 228 27.2% 7 14.2% benign(0.269) tolerated(0.46) neutral(0.041) HMMPfam_ELMO_CED12 TXNDC3 51314 genome.wustl.edu 37 7 37901701 37901701 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016616.4 +1 reviewed p.I114 0.000 161 0% 148 36.5% 0 - - - - superfamily_Thiordxn-like_fd TXNDC3 51314 genome.wustl.edu 37 7 37916566 37916566 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016616.4 +1 reviewed p.K317N 0.004 102 0% 82 42.7% 0 - possibly_damaging(0.509) deleterious(0.02) deleterious(0.553) HMMSmart_NDK,superfamily_NDK TXNDC3 51314 genome.wustl.edu 37 7 37936563 37936563 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016616.4 +1 reviewed p.L546V 0.000 145 0% 120 35% 2 100% benign(0.001) tolerated(0.74) neutral(0.002) HMMPfam_NDK,HMMSmart_NDK,superfamily_NDK EPDR1 54749 genome.wustl.edu 37 7 37988465 37988465 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017549.3 +1 reviewed p.Y218S 1.000 174 0% 243 32.5% 3 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Ependymin TARP 445347 genome.wustl.edu 37 7 38299730 38299730 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001003806.1 -1 reviewed p.L99F 0.000 355 0% 639 18.3% 0 - benign(0.08) tolerated(1) neutral(0.005) NULL TARP 445347 genome.wustl.edu 37 7 38305208 38305208 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001003799.1 -1 reviewed p.S20 0.001 213 0% 407 30.5% 0 - benign(0.003) tolerated(0.45) neutral(0.012) NULL TRGV3 6976 genome.wustl.edu 37 7 38398389 38398389 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000390346 -1 known p.T26 0.000 174 0% 309 32% 1 0% - - - HMMPfam_V-set,superfamily_Immunoglobulin TRGV2 6974 genome.wustl.edu 37 7 38402489 38402489 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000426402 -1 known p.V110 0.469 169 0% 219 32.9% 0 - - - - HMMPfam_V-set,superfamily_SSF48726 AMPH 273 genome.wustl.edu 37 7 38502699 38502699 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001635.2 -1 reviewed p.L255P 1.000 258 0% 305 34.8% 0 - probably_damaging(0.985) deleterious(0.02) deleterious(0.815) NULL AMPH 273 genome.wustl.edu 37 7 38514956 38514956 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001635.2 -1 reviewed p.E189* 1.000 319 0% 315 25.7% 0 - - - - HMMPfam_BAR,HMMSmart_SM00721 VPS41 27072 genome.wustl.edu 37 7 38937711 38937711 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014396.3 -1 reviewed p.E14* 1.000 134 0% 149 28.9% 8 25% - - - NULL POU6F2 11281 genome.wustl.edu 37 7 39247123 39247123 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007252.3 +1 reviewed p.L139I 1.000 50 0% 59 20.3% 1 0% unknown(0) deleterious(0) - NULL POU6F2 11281 genome.wustl.edu 37 7 39500252 39500252 + Silent SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007252.3 +1 reviewed p.T503 1.000 73 0% 75 37.3% 0 - - - - HMMPfam_Pou,HMMSmart_SM00352,PatternScan_POU_1,superfamily_lambda repressor-like DNA-binding domains POU6F2 11281 genome.wustl.edu 37 7 39503941 39503941 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007252.3 +1 reviewed p.L578F 1.000 154 0% 205 35.1% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pou,HMMSmart_SM00352,superfamily_lambda repressor-like DNA-binding domains RALA 5898 genome.wustl.edu 37 7 39745743 39745743 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005402.2 +1 reviewed p.E174* 1.000 164 0% 228 33.8% 81 51.8% - - - HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases RALA 5898 genome.wustl.edu 37 7 39745749 39745749 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005402.2 +1 reviewed p.R176* 1.000 171 0% 244 33.2% 82 37.8% - - - HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases ENSG00000249078 0 genome.wustl.edu 37 7 39894033 39894033 + RNA SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000507268 +1 known NULL 0.780 162 0% 222 30.6% 5 0% - - - - CDK13 8621 genome.wustl.edu 37 7 40027692 40027692 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003718.4 +1 reviewed p.K569T 1.000 74 0% 162 32.1% 8 25% possibly_damaging(0.666) tolerated(0.14) deleterious(0.485) NULL C7orf10 79783 genome.wustl.edu 37 7 40220597 40220597 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024728.1 +1 provisional p.R58K 1.000 423 0% 571 26.4% 2 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_CoA-Trfase_fam_III GLI3 2737 genome.wustl.edu 37 7 42012080 42012080 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000168.5 -1 reviewed p.P653 0.000 181 0% 170 32.4% 3 33.3% - - - NULL GLI3 2737 genome.wustl.edu 37 7 42018306 42018306 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000168.5 -1 reviewed p.F513 0.985 143 0% 155 25.2% 1 0% - - - HMMPfam_zf-C2H2,HMMSmart_SM00355 C7orf25 79020 genome.wustl.edu 37 7 42950227 42950227 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001099858.1 -1 validated p.V149 1.000 258 0% 383 28.5% 5 20% - - - HMMPfam_DUF1308 HECW1 23072 genome.wustl.edu 37 7 43360288 43360288 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015052.3 +1 validated p.S136F 1.000 200 0% 380 11.1% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL C7orf44 55744 genome.wustl.edu 37 7 43684885 43684885 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018224.2 -1 validated p.D77Y 0.014 91 0% 140 36.4% 38 47.3% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL URGCP 55665 genome.wustl.edu 37 7 43917456 43917456 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001077663.1 -1 validated p.R536* 0.027 58 0% 68 25% 10 50% - - - NULL URGCP 55665 genome.wustl.edu 37 7 43917729 43917729 + Missense_Mutation SNP G G A rs146588529 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001077663.1 -1 validated p.R445W 0.041 104 0% 135 30.4% 17 70.5% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL POLM 27434 genome.wustl.edu 37 7 44116211 44116211 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000430942 -1 known p.S239L 0.359 98 0% 105 41% 4 0% unknown(0) - - NULL NUDCD3 23386 genome.wustl.edu 37 7 44444152 44444152 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015332.3 -1 reviewed p.R225C 1.000 79 0% 130 20.8% 28 17.8% benign(0.054) tolerated(0.14) neutral(0.253) superfamily_HSP20_chap,HMMPfam_CS NPC1L1 29881 genome.wustl.edu 37 7 44578618 44578618 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013389.2 -1 reviewed p.E460K 0.056 155 0% 174 34.5% 0 - benign(0) tolerated(0.31) neutral(0.027) HMMPfam_Patched OGDH 4967 genome.wustl.edu 37 7 44741208 44741208 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002541.3 +1 reviewed p.L876F 1.000 157 0% 356 35.4% 44 34% benign(0.394) tolerated(0.09) neutral(0.423) NULL NACAD 23148 genome.wustl.edu 37 7 45124587 45124587 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000258775 -1 known p.E398* 0.999 37 0% 65 50.8% 0 - - - - NULL TBRG4 9238 genome.wustl.edu 37 7 45141949 45141949 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004749.2 -1 validated p.L440I 0.954 77 0% 111 27% 43 44.1% probably_damaging(0.969) deleterious(0.05) deleterious(0.757) NULL TBRG4 9238 genome.wustl.edu 37 7 45148446 45148446 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004749.2 -1 validated p.L131F 0.200 65 0% 126 39.7% 37 37.8% benign(0.038) tolerated(0.06) neutral(0.325) NULL ADCY1 107 genome.wustl.edu 37 7 45748045 45748045 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021116.2 +1 reviewed p.D972N 1.000 331 0% 441 35.6% 3 33.3% benign(0.004) tolerated(1) - HMMPfam_Guanylate_cyc,HMMSmart_CYCc,superfamily_A/G_cyclase IGFBP3 3486 genome.wustl.edu 37 7 45956180 45956180 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000428530 -1 known p.T91I 1.000 276 0% 273 34.8% 90 3.3% - - - HMMPfam_Thyroglobulin_1,HMMSmart_SM00211,PatternScan_THYROGLOBULIN_1_1,superfamily_Thyroglobulin type-1 domain TNS3 64759 genome.wustl.edu 37 7 47336726 47336726 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022748.10 -1 validated p.M1210I 1.000 58 0% 76 40.8% 15 6.6% benign(0.008) deleterious(0.03) neutral(0.364) HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain C7orf65 401335 genome.wustl.edu 37 7 47698695 47698695 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001123065.1 +1 validated p.L109F 0.000 135 0% 174 31% 0 - unknown(0) - - NULL PKD1L1 168507 genome.wustl.edu 37 7 47968883 47968883 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138295.2 -1 reviewed p.F326 0.042 168 0% 347 33.4% 1 0% - - - NULL HUS1 3364 genome.wustl.edu 37 7 48018179 48018179 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004507.2 -1 reviewed p.F64L 1.000 169 0% 315 26.7% 7 71.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Hus1 SUN3 256979 genome.wustl.edu 37 7 48056936 48056936 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001030019.1 -1 validated p.E71* 0.012 160 0% 174 28.7% 0 - - - - NULL ABCA13 154664 genome.wustl.edu 37 7 48258983 48258983 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152701.3 +1 reviewed p.K107R 0.000 63 0% 77 28.6% 0 - benign(0) - - NULL ABCA13 154664 genome.wustl.edu 37 7 48269540 48269540 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152701.3 +1 reviewed p.V251L 0.000 141 0% 157 39.5% 0 - benign(0.401) - - NULL ABCA13 154664 genome.wustl.edu 37 7 48285141 48285141 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152701.3 +1 reviewed p.D475Y 0.000 174 0% 228 29.8% 0 - possibly_damaging(0.949) - - NULL ABCA13 154664 genome.wustl.edu 37 7 48315032 48315032 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152701.3 +1 reviewed p.K1923N 0.000 63 0% 47 12.8% 0 - probably_damaging(0.978) - - NULL ABCA13 154664 genome.wustl.edu 37 7 48428710 48428710 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000453246 +1 known p.G115* 0.888 61 0% 90 37.8% 0 - probably_damaging(1) - - superfamily_P-loop containing nucleoside triphosphate hydrolases ABCA13 154664 genome.wustl.edu 37 7 48528847 48528847 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000453246 +1 known p.E665K 1.000 269 0% 243 34.6% 0 - - - - NULL ABCA13 154664 genome.wustl.edu 37 7 48550753 48550753 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152701.3 +1 reviewed p.R4533H 0.993 240 0% 261 22.6% 0 - probably_damaging(0.999) - - NULL ABCA13 154664 genome.wustl.edu 37 7 48619944 48619944 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152701.3 +1 reviewed p.G4827R 0.888 177 0% 145 25.5% 0 - probably_damaging(1) - - HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCA13 154664 genome.wustl.edu 37 7 48684218 48684218 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152701.3 +1 reviewed p.Q4983 0.996 55 0% 62 32.3% 0 - - - - NULL ABCA13 154664 genome.wustl.edu 37 7 48685023 48685023 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152701.3 +1 reviewed p.N5031T 0.996 203 0% 245 30.2% 0 - benign(0.039) - - NULL ZPBP 11055 genome.wustl.edu 37 7 50057846 50057846 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007009.2 -1 validated p.R258I 0.085 246 0% 179 31.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sp38 ZPBP 11055 genome.wustl.edu 37 7 50129253 50129253 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007009.2 -1 validated p.V60 0.997 82 0% 58 34.5% 0 - - - - NULL IKZF1 10320 genome.wustl.edu 37 7 50367274 50367274 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000331340 +1 known p.G27 0.020 66 0% 96 33.3% 0 - - - - NULL FIGNL1 63979 genome.wustl.edu 37 7 50513484 50513484 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001042762.1 -1 validated p.E501G 1.000 91 0% 121 40.5% 4 75% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00382,HMMPfam_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases FIGNL1 63979 genome.wustl.edu 37 7 50514088 50514088 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001042762.1 -1 validated p.E300* 1.000 260 0% 322 36% 0 - - - - NULL GRB10 2887 genome.wustl.edu 37 7 50686909 50686909 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005311.4 -1 reviewed p.F245 1.000 218 0.5% 255 34.1% 5 40% - - - HMMPfam_RA,HMMSmart_SM00314 COBL 23242 genome.wustl.edu 37 7 51096885 51096885 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000452534 -1 known p.E612K 0.000 252 0.4% 348 66.4% 5 100% - - - NULL POM121L12 285877 genome.wustl.edu 37 7 53103700 53103700 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182595.3 +1 validated p.L112 0.001 29 0% 22 31.8% 0 - - - - NULL VOPP1 81552 genome.wustl.edu 37 7 55540571 55540571 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030796.3 -1 validated p.E166K 0.995 86 0% 129 15.5% 50 28% benign(0.313) deleterious(0.02) deleterious(0.481) NULL SEPT14 346288 genome.wustl.edu 37 7 55872965 55872965 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_207366.2 -1 validated p.E369* 1.000 324 0% 538 38.1% 4 0% - - - NULL SEPT14 346288 genome.wustl.edu 37 7 55872994 55872994 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_207366.2 -1 validated p.R359Q 0.675 318 0% 587 33.2% 7 100% possibly_damaging(0.512) deleterious(0.01) deleterious(0.578) NULL LOC441228 441228 genome.wustl.edu 37 7 56358251 56358251 + RNA SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XR_016387.3 +1 model NULL 1.000 140 0% 224 36.6% 0 - - - - - LOC100289196 100289196 genome.wustl.edu 37 7 56671199 56671199 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002342722.1 +1 model p.E33* 0.966 79 0% 77 27.3% 1 0% - - - NULL ZNF479 90827 genome.wustl.edu 37 7 57187560 57187560 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033273.1 -1 provisional p.Y521C 0.925 153 0% 149 30.2% 0 - possibly_damaging(0.578) deleterious(0) deleterious(0.643) superfamily_SSF57667 ZNF479 90827 genome.wustl.edu 37 7 57187652 57187652 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033273.1 -1 provisional p.E490 1.000 133 0% 107 15.9% 0 - - - - superfamily_SSF57667 ZNF479 90827 genome.wustl.edu 37 7 57187836 57187836 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033273.1 -1 provisional p.R429I 1.000 201 0% 249 27.3% 0 - unknown(0) tolerated(0.41) - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF479 90827 genome.wustl.edu 37 7 57188004 57188004 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033273.1 -1 provisional p.R373I 0.592 118 0% 115 33% 0 - benign(0.018) tolerated(0.46) neutral(0.013) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF479 90827 genome.wustl.edu 37 7 57188024 57188024 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033273.1 -1 provisional p.S366 0.000 128 0% 104 29.8% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF479 90827 genome.wustl.edu 37 7 57188567 57188567 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033273.1 -1 provisional p.F185 0.041 275 0% 334 32.6% 0 - - - - HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF716 441234 genome.wustl.edu 37 7 57522253 57522253 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002342727.1 +1 model p.D43Y 0.981 242 0% 255 27.8% 0 - possibly_damaging(0.644) deleterious(0) deleterious(0.670) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF716 441234 genome.wustl.edu 37 7 57522857 57522857 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002342727.1 +1 model p.M82T 0.988 335 0% 330 26.7% 0 - benign(0.004) tolerated(0.96) - NULL ZNF679 168417 genome.wustl.edu 37 7 63727100 63727100 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153363.2 +1 validated p.F363L 0.000 105 0% 104 29.8% 0 - benign(0) tolerated(0.68) neutral(0.002) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF736 728927 genome.wustl.edu 37 7 63809071 63809071 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000423484 +1 known p.R277I 0.844 68 0% 72 27.8% 2 50% benign(0.086) tolerated(0.21) neutral(0.050) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF680 340252 genome.wustl.edu 37 7 63982191 63982191 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178558.4 -1 validated p.R314I 1.000 63 0% 85 22.4% 3 33.3% benign(0.026) tolerated(0.21) neutral(0.045) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF107 51427 genome.wustl.edu 37 7 64167473 64167473 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001013746.1 +1 validated p.R264I 1.000 61 0% 61 27.9% 0 - benign(0.079) tolerated(0.17) neutral(0.065) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF117 51351 genome.wustl.edu 37 7 64439756 64439756 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015852.3 -1 validated p.D65Y 0.000 173 0% 110 30.9% 0 - benign(0.002) tolerated(0.28) neutral(0.032) NULL ERV3-1 2086 genome.wustl.edu 37 7 64452930 64452930 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001007253.3 -1 reviewed p.D159N 0.163 111 0% 209 34.4% 4 100% benign(0.024) tolerated(0.4) neutral(0.017) NULL ENSG00000207344 0 genome.wustl.edu 37 7 64526463 64526463 + RNA SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000384614 +1 novel NULL 0.995 17 0% 20 30% 0 - - - - - ZNF92 168374 genome.wustl.edu 37 7 64864700 64864700 + Missense_Mutation SNP T T A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152626.2 +1 validated p.I558N 0.999 51 0% 34 29.4% 3 33.3% benign(0.111) deleterious(0.02) neutral(0.392) superfamily_C2H2 and C2HC zinc fingers GUSB 2990 genome.wustl.edu 37 7 65425946 65425946 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000181.3 -1 reviewed p.E632* 1.000 93 0% 239 31% 178 35.3% - - - superfamily_(Trans)glycosidases POM121 9883 genome.wustl.edu 37 7 72413281 72413281 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_172020.1 +1 reviewed p.D652N 0.432 135 0% 255 20.4% 11 0% benign(0.002) tolerated(1) - NULL POM121 9883 genome.wustl.edu 37 7 72416679 72416679 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_172020.1 +1 reviewed p.S954L 0.494 223 0.4% 358 31.8% 13 15.3% benign(0.149) deleterious(0) neutral(0.458) NULL NSUN5 55695 genome.wustl.edu 37 7 72719090 72719090 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_148956.2 -1 reviewed p.D169N 0.077 158 0% 289 31.5% 39 56.4% benign(0) tolerated(0.46) neutral(0.012) superfamily_SSF53335 TRIM50 135892 genome.wustl.edu 37 7 72727296 72727296 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178125.2 -1 provisional p.R362H 0.995 28 0% 14 35.7% 0 - probably_damaging(1) tolerated(0.13) deleterious(0.752) HMMPfam_SPRY,HMMSmart_SM00449 MLXIPL 51085 genome.wustl.edu 37 7 73010717 73010717 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032951.2 -1 reviewed p.R639W 1.000 24 0% 55 23.6% 0 - probably_damaging(0.999) deleterious(0.05) deleterious(0.836) NULL ELN 2006 genome.wustl.edu 37 7 73456948 73456948 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000501.2 +1 reviewed p.L79 0.040 57 0% 72 34.7% 4 0% - - - NULL ELN 2006 genome.wustl.edu 37 7 73470762 73470762 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000501.2 +1 reviewed p.S438A 0.009 188 0% 330 30.6% 12 8.3% unknown(0) tolerated(0.38) - NULL LIMK1 3984 genome.wustl.edu 37 7 73535360 73535360 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002314.2 +1 reviewed p.D588N 1.000 65 0% 117 33.3% 60 35% probably_damaging(0.995) tolerated(0.2) deleterious(0.507) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) CLIP2 7461 genome.wustl.edu 37 7 73790288 73790288 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003388.4 +1 reviewed p.I519 0.975 10 0% 12 33.3% 10 0% - - - NULL NCF1 653361 genome.wustl.edu 37 7 74197281 74197281 + Splice_Site SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000265.4 +1 reviewed e6-1 1.000 123 0% 267 25.8% 0 - - - - - GTF2IRD2 84163 genome.wustl.edu 37 7 74211844 74211844 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173537.2 -1 validated p.H669 0.997 46 0% 136 30.9% 2 0% - - - NULL WBSCR16 81554 genome.wustl.edu 37 7 74470146 74470146 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030798.3 -1 reviewed p.L365F 1.000 69 0% 170 30% 21 33.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_RCC1/BLIP-II WBSCR16 81554 genome.wustl.edu 37 7 74480411 74480411 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030798.3 -1 reviewed p.E212K 0.485 110 0% 294 33% 19 36.8% possibly_damaging(0.675) tolerated(0.18) neutral(0.295) superfamily_RCC1/BLIP-II WBSCR16 81554 genome.wustl.edu 37 7 74480440 74480440 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030798.3 -1 reviewed p.S202Y 0.723 109 0% 285 31.6% 22 36.3% possibly_damaging(0.873) deleterious(0) deleterious(0.784) superfamily_RCC1/BLIP-II GTF2IRD2B 389524 genome.wustl.edu 37 7 74564706 74564706 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001003795.2 +1 reviewed p.D818G 0.995 137 0% 374 23.8% 0 - possibly_damaging(0.798) tolerated(0.26) neutral(0.335) NULL POM121C 100101267 genome.wustl.edu 37 7 75051183 75051183 + Silent SNP G G A rs190500891 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001099415.1 -1 validated p.F784 0.001 34 0% 41 39% 28 46.4% - - - NULL POM121C 100101267 genome.wustl.edu 37 7 75051835 75051835 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001099415.1 -1 validated p.S567L 0.003 203 0% 322 17.7% 13 7.6% benign(0.048) tolerated(0.28) neutral(0.035) NULL HIP1 3092 genome.wustl.edu 37 7 75185447 75185447 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005338.4 -1 reviewed p.F570 0.000 55 0% 99 34.3% 0 - - - - NULL ZP3 7784 genome.wustl.edu 37 7 76069798 76069798 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000394860 +1 known p.S144F 0.210 109 0% 206 35.4% 11 0% - - - NULL LOC100288807 100288807 genome.wustl.edu 37 7 76163229 76163229 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002342739.1 -1 model p.S544 0.004 150 0% 231 42.9% 1 0% - - - NULL FGL2 10875 genome.wustl.edu 37 7 76825985 76825985 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006682.2 -1 reviewed p.E311K 0.994 242 0.4% 295 28.8% 4 0% benign(0) tolerated(1) - HMMPfam_Fibrinogen_C,HMMSmart_SM00186,superfamily_Fibrinogen C-terminal domain-like FGL2 10875 genome.wustl.edu 37 7 76828827 76828827 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006682.2 -1 reviewed p.S95Y 0.647 150 0% 203 39.9% 1 0% benign(0.264) deleterious(0.01) neutral(0.433) NULL CCDC146 57639 genome.wustl.edu 37 7 76908354 76908354 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020879.2 +1 validated p.E544* 1.000 135 0% 158 36.7% 3 0% - - - NULL PTPN12 5782 genome.wustl.edu 37 7 77200464 77200464 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002835.3 +1 reviewed p.E57* 1.000 135 0% 159 29.6% 8 25% - - - HMMSmart_PTPc,superfamily_SSF52799 PTPN12 5782 genome.wustl.edu 37 7 77200478 77200478 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002835.3 +1 reviewed p.K61N 1.000 121 0% 158 34.8% 9 33.3% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_Y_phosphatase,HMMSmart_PTPc,superfamily_SSF52799 PTPN12 5782 genome.wustl.edu 37 7 77240121 77240121 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002835.3 +1 reviewed p.E268* 1.000 71 0% 41 22% 15 20% - - - HMMPfam_Y_phosphatase,HMMSmart_PTPc,superfamily_SSF52799 PTPN12 5782 genome.wustl.edu 37 7 77256291 77256291 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002835.3 +1 reviewed p.R432Q 1.000 63 0% 76 25% 13 38.4% benign(0.249) deleterious(0.01) neutral(0.431) NULL PHTF2 57157 genome.wustl.edu 37 7 77538252 77538252 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001127357.1 +1 validated p.L162 0.314 105 0% 173 39.9% 3 33.3% - - - NULL PHTF2 57157 genome.wustl.edu 37 7 77549611 77549611 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001127357.1 +1 validated p.K230N 0.990 69 0% 125 25.6% 3 33.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL MAGI2 9863 genome.wustl.edu 37 7 77708379 77708379 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012301.3 -1 reviewed p.I1197 1.000 328 0% 502 28.7% 0 - - - - HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like MAGI2 9863 genome.wustl.edu 37 7 77830501 77830501 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012301.3 -1 reviewed p.S686Y 1.000 48 0% 36 16.7% 0 - possibly_damaging(0.931) deleterious(0.02) deleterious(0.760) NULL MAGI2 9863 genome.wustl.edu 37 7 77973155 77973155 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012301.3 -1 reviewed p.L450M 1.000 249 0% 341 32.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like MAGI2 9863 genome.wustl.edu 37 7 78636480 78636480 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012301.3 -1 reviewed p.R115Q 1.000 211 0% 182 31.9% 0 - probably_damaging(1) tolerated(0.63) deleterious(0.503) HMMSmart_SM00072 GNAI1 2770 genome.wustl.edu 37 7 79846806 79846806 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002069.5 +1 validated p.F354L 1.000 153 0% 141 39% 13 46.1% benign(0) tolerated(0.41) neutral(0.015) NULL GNAT3 346562 genome.wustl.edu 37 7 80088144 80088144 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001102386.1 -1 provisional p.I303T 1.000 171 0% 165 28.5% 0 - probably_damaging(0.984) deleterious(0.01) deleterious(0.836) HMMPfam_G-alpha,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases CD36 948 genome.wustl.edu 37 7 80302680 80302680 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000072.3 +1 reviewed p.K403N 0.004 87 0% 66 39.4% 13 0% benign(0.002) tolerated(0.38) neutral(0.018) HMMPfam_CD36 HGF 3082 genome.wustl.edu 37 7 81346626 81346626 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000601.4 -1 reviewed p.P443T 1.000 257 0% 234 31.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Kringle,HMMSmart_SM00130,superfamily_Kringle-like,PatternScan_KRINGLE_1 HGF 3082 genome.wustl.edu 37 7 81350155 81350155 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000601.4 -1 reviewed p.R393C 1.000 231 0% 277 32.9% 1 0% possibly_damaging(0.841) tolerated(0.17) neutral(0.381) HMMPfam_Kringle,HMMSmart_SM00130,superfamily_Kringle-like HGF 3082 genome.wustl.edu 37 7 81392026 81392026 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000601.4 -1 reviewed p.C84F 1.000 332 0% 335 27.5% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PAN_1,HMMSmart_SM00473,superfamily_Hairpin loop containing domain-like CACNA2D1 781 genome.wustl.edu 37 7 81765991 81765991 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000722.2 -1 reviewed p.S119I 1.000 127 0% 131 34.4% 1 0% benign(0.004) tolerated(0.19) neutral(0.050) HMMPfam_VWA_N PCLO 27445 genome.wustl.edu 37 7 82390017 82390017 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033026.5 -1 validated p.R5076* 1.000 267 0% 112 34.8% 0 - - - - HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) PCLO 27445 genome.wustl.edu 37 7 82544693 82544693 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033026.5 -1 validated p.F4203L 1.000 168 0% 180 37.2% 3 66.6% probably_damaging(0.992) deleterious(0.01) deleterious(0.853) NULL PCLO 27445 genome.wustl.edu 37 7 82579135 82579135 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033026.5 -1 validated p.K3590T 1.000 359 0% 479 33.8% 2 100% probably_damaging(0.995) - - NULL PCLO 27445 genome.wustl.edu 37 7 82582261 82582261 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033026.5 -1 validated p.L2670I 0.003 121 0% 116 36.2% 2 50% benign(0.004) - - NULL PCLO 27445 genome.wustl.edu 37 7 82584401 82584401 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033026.5 -1 validated p.I1956M 1.000 95 0% 115 34.8% 0 - probably_damaging(0.991) - - NULL PCLO 27445 genome.wustl.edu 37 7 82584994 82584994 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033026.5 -1 validated p.R1759W 0.966 95 0% 91 35.2% 0 - probably_damaging(1) - - NULL KIAA1324L 222223 genome.wustl.edu 37 7 86577145 86577145 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142749.2 -1 validated p.K135T 1.000 186 0% 227 30.4% 1 0% possibly_damaging(0.923) deleterious(0.03) deleterious(0.737) superfamily_Growth factor receptor domain DMTF1 9988 genome.wustl.edu 37 7 86808912 86808912 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142327.1 +1 reviewed p.E191K 1.000 152 0% 131 29% 5 60% probably_damaging(0.993) tolerated(0.2) deleterious(0.499) NULL DMTF1 9988 genome.wustl.edu 37 7 86815237 86815237 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142327.1 +1 reviewed p.R381Q 1.000 308 0% 327 32.4% 10 20% probably_damaging(0.992) tolerated(0.12) deleterious(0.708) HMMSmart_SM00717 CROT 54677 genome.wustl.edu 37 7 87004969 87004969 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001143935.1 +1 reviewed p.K254N 0.648 113 0% 163 29.4% 6 50% benign(0.001) tolerated(0.54) neutral(0.007) HMMPfam_Carn_acyltransf,superfamily_CoA-dependent acyltransferases CROT 54677 genome.wustl.edu 37 7 87005203 87005203 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001143935.1 +1 reviewed p.Q298H 1.000 162 0% 140 30.7% 1 0% possibly_damaging(0.93) deleterious(0) deleterious(0.821) HMMPfam_Carn_acyltransf,superfamily_CoA-dependent acyltransferases ABCB4 5244 genome.wustl.edu 37 7 87035619 87035619 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018849.2 -1 reviewed p.I1164 0.767 158 0% 179 32.4% 0 - - - - HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCB4 5244 genome.wustl.edu 37 7 87035793 87035793 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018849.2 -1 reviewed p.E1106D 0.692 151 0% 181 31.5% 0 - benign(0) tolerated(1) - HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases RUNDC3B 154661 genome.wustl.edu 37 7 87407141 87407141 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138290.2 +1 validated p.R293* 1.000 97 0% 108 25% 1 0% - - - NULL ADAM22 53616 genome.wustl.edu 37 7 87810852 87810852 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021723.2 +1 reviewed p.R814M 1.000 202 0% 156 30.1% 1 100% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL STEAP4 79689 genome.wustl.edu 37 7 87913516 87913516 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024636.2 -1 validated p.C23 0.913 76 0% 68 32.4% 0 - - - - HMMPfam_F420_oxidored,superfamily_NAD(P)-binding Rossmann-fold domains ZNF804B 219578 genome.wustl.edu 37 7 88956756 88956756 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_181646.2 +1 provisional p.H116 1.000 166 0% 100 27% 0 - - - - NULL ZNF804B 219578 genome.wustl.edu 37 7 88964559 88964559 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_181646.2 +1 provisional p.R755W 0.000 96 0% 61 34.4% 0 - benign(0) tolerated(0.08) neutral(0.300) NULL ZNF804B 219578 genome.wustl.edu 37 7 88965007 88965007 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_181646.2 +1 provisional p.S904F 0.000 88 0% 50 20% 0 - possibly_damaging(0.861) deleterious(0) deleterious(0.778) NULL ZNF804B 219578 genome.wustl.edu 37 7 88965588 88965588 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_181646.2 +1 provisional p.L1098I 0.018 92 0% 80 27.5% 0 - probably_damaging(0.959) tolerated(0.09) deleterious(0.699) NULL C7orf63 79846 genome.wustl.edu 37 7 89909144 89909144 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001039706.2 +1 validated p.E437* 0.978 154 0% 189 30.2% 2 50% - - - superfamily_ARM-type_fold C7orf63 79846 genome.wustl.edu 37 7 89915627 89915627 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001039706.2 +1 validated p.E524* 0.983 231 0% 96 24% 2 0% - - - superfamily_ARM-type_fold C7orf63 79846 genome.wustl.edu 37 7 89939544 89939544 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001039706.2 +1 validated p.P894T 0.001 91 0% 96 33.3% 2 0% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL GTPBP10 85865 genome.wustl.edu 37 7 90012388 90012388 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033107.2 +1 validated p.P299L 1.000 118 0% 124 39.5% 6 33.3% probably_damaging(1) tolerated(1) deleterious(0.500) superfamily_P-loop containing nucleoside triphosphate hydrolases AKAP9 10142 genome.wustl.edu 37 7 91603044 91603044 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005751.4 +1 reviewed p.R23I 1.000 37 0% 65 26.2% 0 - possibly_damaging(0.604) deleterious(0) deleterious(0.654) NULL AKAP9 10142 genome.wustl.edu 37 7 91625058 91625058 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005751.4 +1 reviewed p.E292* 1.000 129 0% 167 34.7% 0 - - - - NULL AKAP9 10142 genome.wustl.edu 37 7 91632209 91632209 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005751.4 +1 reviewed p.R993K 0.985 83 0% 111 32.4% 1 0% benign(0) tolerated(0.42) neutral(0.014) NULL AKAP9 10142 genome.wustl.edu 37 7 91652199 91652199 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005751.4 +1 reviewed p.E1342* 0.992 82 0% 111 36.9% 1 100% - - - NULL AKAP9 10142 genome.wustl.edu 37 7 91691743 91691743 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005751.4 +1 reviewed p.E1974* 1.000 109 0% 131 33.6% 0 - - - - NULL AKAP9 10142 genome.wustl.edu 37 7 91694548 91694548 + Nonsense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005751.4 +1 reviewed p.L1994* 1.000 87 0% 108 33.3% 0 - - - - NULL AKAP9 10142 genome.wustl.edu 37 7 91709328 91709328 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005751.4 +1 reviewed p.E2627 0.967 57 0% 64 31.2% 0 - - - - NULL AKAP9 10142 genome.wustl.edu 37 7 91726195 91726195 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005751.4 +1 reviewed p.R3308* 0.998 92 0% 204 30.4% 3 33.3% - - - NULL ENSG00000240720 0 genome.wustl.edu 37 7 91793375 91793375 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000430130 -1 known p.K381T 0.997 52 0% 58 32.8% 0 - possibly_damaging(0.818) tolerated(0.51) neutral(0.318) HMMSmart_SM00369,superfamily_L domain-like SAMD9 54809 genome.wustl.edu 37 7 92733821 92733821 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017654.2 -1 validated p.H530 0.004 121 0% 138 30.4% 0 - - - - NULL SAMD9L 219285 genome.wustl.edu 37 7 92760782 92760782 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152703.2 -1 validated p.Q1501H 0.000 178 0% 168 34.5% 2 0% benign(0) deleterious(0.05) neutral(0.345) NULL SAMD9L 219285 genome.wustl.edu 37 7 92761001 92761001 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152703.2 -1 validated p.F1428L 0.996 123 0% 108 28.7% 5 0% possibly_damaging(0.94) tolerated(0.14) deleterious(0.635) NULL SAMD9L 219285 genome.wustl.edu 37 7 92761345 92761345 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152703.2 -1 validated p.L1314I 0.000 132 0% 103 31.1% 1 0% benign(0.015) tolerated(0.33) neutral(0.025) NULL HEPACAM2 253012 genome.wustl.edu 37 7 92826705 92826705 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001039372.1 -1 provisional p.K382Q 0.998 144 0% 59 37.3% 0 - benign(0) deleterious(0.05) neutral(0.345) NULL HEPACAM2 253012 genome.wustl.edu 37 7 92848439 92848439 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001039372.1 -1 provisional p.S135 0.997 174 0% 185 40% 0 - - - - HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin CCDC132 55610 genome.wustl.edu 37 7 92881984 92881984 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017667.2 +1 validated p.R41* 1.000 163 0% 141 40.4% 0 - - - - NULL CCDC132 55610 genome.wustl.edu 37 7 92932792 92932792 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000458707 +1 known p.E248* 1.000 170 0% 147 32% 4 25% possibly_damaging(0.677) tolerated(0.06) deleterious(0.564) NULL CCDC132 55610 genome.wustl.edu 37 7 92983058 92983058 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017667.2 +1 validated p.R857Q 1.000 205 0% 165 29.1% 5 80% probably_damaging(0.999) tolerated(0.08) deleterious(0.790) HMMPfam_DUF2451 CALCR 799 genome.wustl.edu 37 7 93108753 93108753 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001742.3 -1 reviewed p.L40I 0.005 352 0% 290 31.7% 0 - possibly_damaging(0.772) deleterious(0.03) deleterious(0.651) superfamily_SSF111418 MIR653 724023 genome.wustl.edu 37 7 93112147 93112147 + RNA SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000385279 -1 known NULL 1.000 155 0% 89 42.7% 0 - - - - - TFPI2 7980 genome.wustl.edu 37 7 93518399 93518399 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006528.2 -1 provisional p.E136D 0.003 127 0% 153 35.9% 101 37.6% possibly_damaging(0.649) tolerated(0.42) neutral(0.242) HMMPfam_Kunitz_BPTI,HMMSmart_KU,superfamily_Prot_inh_Kunz-m PEG10 23089 genome.wustl.edu 37 7 94293191 94293191 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001040152.1 +1 reviewed p.T108I 0.994 118 0% 141 30.5% 17 100% probably_damaging(0.963) deleterious(0.04) deleterious(0.754) NULL PPP1R9A 55607 genome.wustl.edu 37 7 94539977 94539977 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017650.2 +1 validated p.S184 0.984 117 0% 163 35% 1 100% - - - NULL PPP1R9A 55607 genome.wustl.edu 37 7 94881345 94881345 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017650.2 +1 validated p.I834 0.998 206 0% 155 34.2% 2 0% - - - NULL PPP1R9A 55607 genome.wustl.edu 37 7 94919405 94919405 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017650.2 +1 validated p.A1029 0.998 99 0% 202 35.1% 0 - - - - HMMSmart_SM00454,superfamily_SAM/Pointed domain,HMMPfam_SAM_2 PON1 5444 genome.wustl.edu 37 7 94931535 94931535 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000446.5 -1 reviewed p.E297D 0.727 140 0% 169 34.3% 0 - benign(0) tolerated(0.4) neutral(0.016) superfamily_Calcium-dependent phosphotriesterase ASB4 51666 genome.wustl.edu 37 7 95115339 95115339 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016116.1 +1 reviewed p.R19I 0.535 173 0% 199 28.6% 0 - benign(0) deleterious(0.02) neutral(0.383) NULL PDK4 5166 genome.wustl.edu 37 7 95216809 95216809 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002612.3 -1 reviewed p.R301I 1.000 133 0% 163 39.9% 6 16.6% possibly_damaging(0.834) deleterious(0.01) deleterious(0.724) HMMPfam_HATPase_c,HMMSmart_SM00387,superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase SLC25A13 10165 genome.wustl.edu 37 7 95820524 95820524 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014251.2 -1 reviewed p.F217L 1.000 188 0% 247 32.4% 15 66.6% possibly_damaging(0.786) deleterious(0.01) deleterious(0.700) superfamily_SSF47473 SLC25A13 10165 genome.wustl.edu 37 7 95864213 95864213 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014251.2 -1 reviewed p.E77* 1.000 171 0% 221 32.1% 5 0% - - - HMMSmart_EFh,superfamily_SSF47473 OCM2 4951 genome.wustl.edu 37 7 97617787 97617787 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006188.3 -1 reviewed p.K45N 0.996 194 0% 408 32.4% 0 - probably_damaging(0.992) deleterious(0.01) deleterious(0.853) HMMSmart_EFh,HMMPfam_efhand,superfamily_SSF47473 BHLHA15 168620 genome.wustl.edu 37 7 97841794 97841794 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_177455.3 +1 validated p.R58H 0.175 5 0.000 12 0.417 0 - probably_damaging(0.989) deleterious(0.01) deleterious(0.845) NULL TECPR1 25851 genome.wustl.edu 37 7 97857397 97857397 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015395.1 -1 provisional p.T814 0.071 111 0% 260 30% 10 40% - - - NULL TRRAP 8295 genome.wustl.edu 37 7 98508891 98508891 + Silent SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000456197 +1 known p.F383C 0.999 166 0% 252 25.8% 5 20% - - - NULL TRRAP 8295 genome.wustl.edu 37 7 98546259 98546259 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003496.2 +1 validated p.F1555C 1.000 92 0% 146 38.4% 4 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_ARM repeat TRRAP 8295 genome.wustl.edu 37 7 98581838 98581838 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003496.2 +1 validated p.L3024 0.921 123 0% 273 34.8% 12 33.3% - - - HMMPfam_FAT,superfamily_ARM repeat,superfamily_Protein prenylyltransferase,superfamily_TPR-like TRRAP 8295 genome.wustl.edu 37 7 98581897 98581897 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000456197 +1 known p.S2783L 0.746 102 0% 190 33.7% 15 46.6% - - - HMMPfam_FAT,superfamily_ARM repeat,superfamily_Protein prenylyltransferase,superfamily_TPR-like TRRAP 8295 genome.wustl.edu 37 7 98601886 98601886 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000456197 +1 known p.S3176Y 0.959 121 0% 126 31.7% 13 61.5% - - - superfamily_Protein kinase-like (PK-like),superfamily_ARM repeat SMURF1 57154 genome.wustl.edu 37 7 98645408 98645408 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020429.1 -1 reviewed p.D377Y 1.000 93 0% 139 19.4% 11 36.3% probably_damaging(0.993) deleterious(0) deleterious(0.895) NULL ARPC1A 10552 genome.wustl.edu 37 7 98961204 98961204 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006409.2 +1 reviewed p.R341H 1.000 197 0.5% 505 37% 209 37.7% benign(0.014) tolerated(0.13) neutral(0.253) HMMSmart_SM00320,superfamily_WD40 repeat-like ARPC1B 10095 genome.wustl.edu 37 7 98988604 98988604 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005720.2 +1 reviewed p.E197K 1.000 32 0% 49 30.6% 117 5.1% possibly_damaging(0.616) deleterious(0.03) deleterious(0.579) HMMSmart_SM00320,superfamily_WD40 repeat-like ATP5J2 9551 genome.wustl.edu 37 7 99057758 99057758 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004889.2 -1 reviewed p.I30 0.050 111 0% 202 28.7% 488 37.7% - - - HMMPfam_WRW ZNF789 285989 genome.wustl.edu 37 7 99084663 99084663 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_213603.2 +1 validated p.R277M 0.681 68 0% 161 30.4% 5 0% probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZKSCAN5 23660 genome.wustl.edu 37 7 99103737 99103737 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014569.3 +1 reviewed p.D24Y 0.795 65 0% 156 39.1% 1 100% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL ZKSCAN5 23660 genome.wustl.edu 37 7 99123772 99123772 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014569.3 +1 reviewed p.G370E 1.000 40 0% 70 44.3% 7 14.2% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_C2H2 and C2HC zinc fingers FAM200A 221786 genome.wustl.edu 37 7 99144588 99144588 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145111.2 -1 validated p.S481 1.000 63 0% 114 33.3% 5 60% - - - NULL ZNF498 221785 genome.wustl.edu 37 7 99227017 99227017 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145115.2 +1 validated p.E337K 0.571 42 0% 63 25.4% 4 50% benign(0.018) tolerated(0.85) neutral(0.001) NULL CYP3A5 1577 genome.wustl.edu 37 7 99250280 99250280 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000777.2 -1 reviewed p.I383 0.904 267 0% 287 30.7% 0 - - - - HMMPfam_p450,superfamily_Cytochrome P450 CYP3A5 1577 genome.wustl.edu 37 7 99264270 99264270 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000777.2 -1 reviewed p.N159H 0.042 291 0% 352 29.5% 0 - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_p450,superfamily_Cytochrome P450 CYP3A4 1576 genome.wustl.edu 37 7 99361562 99361562 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017460.3 -1 reviewed p.L314 0.589 189 0% 200 36% 0 - - - - HMMPfam_p450,superfamily_Cytochrome P450 CYP3A4 1576 genome.wustl.edu 37 7 99364822 99364822 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017460.3 -1 reviewed p.E244* 0.000 335 0% 337 33.8% 0 - - - - HMMPfam_p450,superfamily_Cytochrome P450 CYP3A4 1576 genome.wustl.edu 37 7 99367804 99367804 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017460.3 -1 reviewed p.E125K 0.005 349 0% 398 35.2% 0 - benign(0.001) tolerated(0.12) neutral(0.261) HMMPfam_p450,superfamily_Cytochrome P450 CYP3A43 64816 genome.wustl.edu 37 7 99436746 99436746 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022820.3 +1 reviewed p.L57F 0.000 357 0.3% 491 31.6% 0 - benign(0.017) tolerated(0.48) neutral(0.011) HMMPfam_p450,superfamily_Cytochrome P450 OR2AE1 81392 genome.wustl.edu 37 7 99474390 99474390 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005276.1 -1 provisional p.K89N 0.002 50 0% 156 32.1% 0 - benign(0.167) tolerated(0.58) neutral(0.020) HMMPfam_7tm_1,superfamily_SSF81321 TRIM4 89122 genome.wustl.edu 37 7 99490015 99490015 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033017.2 -1 reviewed p.G425D 0.037 83 0% 130 30% 4 0% possibly_damaging(0.736) tolerated(0.65) neutral(0.272) HMMPfam_SPRY,HMMSmart_SM00449 AZGP1 563 genome.wustl.edu 37 7 99569409 99569409 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001185.3 -1 validated p.E99D 0.978 170 0% 375 62.7% 0 - benign(0.055) tolerated(0.27) neutral(0.037) HMMPfam_MHC_I,superfamily_MHC antigen-recognition domain COPS6 10980 genome.wustl.edu 37 7 99688570 99688570 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006833.4 +1 reviewed p.E178* 1.000 236 0.4% 508 35.2% 90 2.2% - - - NULL COPS6 10980 genome.wustl.edu 37 7 99688765 99688765 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006833.4 +1 reviewed p.E213D 1.000 117 0% 262 39.7% 137 40.1% benign(0.003) tolerated(0.31) neutral(0.027) NULL MCM7 4176 genome.wustl.edu 37 7 99693651 99693651 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005916.3 -1 reviewed p.F447 1.000 44 0% 108 46.3% 255 54.9% - - - HMMPfam_MCM,HMMSmart_SM00350,HMMSmart_SM00382,PatternScan_MCM_1,superfamily_P-loop containing nucleoside triphosphate hydrolases C7orf43 55262 genome.wustl.edu 37 7 99753042 99753042 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018275.3 -1 predicted p.A478T 0.975 39 0% 88 29.5% 34 38.2% probably_damaging(0.998) tolerated(0.19) deleterious(0.524) NULL GAL3ST4 79690 genome.wustl.edu 37 7 99764312 99764312 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024637.4 -1 reviewed p.S81Y 1.000 53 0% 127 29.1% 2 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Gal-3-0_sulfotr STAG3 10734 genome.wustl.edu 37 7 99809080 99809080 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012447.2 +1 validated p.E1145K 0.013 110 0% 246 37.8% 0 - benign(0.001) tolerated(0.1) neutral(0.286) superfamily_ARM repeat SPDYE3 441272 genome.wustl.edu 37 7 99909547 99909547 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000332397 +1 known p.S240L 0.022 89 0% 195 23.6% 1 0% unknown(0) deleterious(0) - NULL FBXO24 26261 genome.wustl.edu 37 7 100187909 100187909 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033506.2 +1 reviewed p.R84H 1.000 44 0% 61 32.8% 1 0% benign(0.001) tolerated(0.23) neutral(0.042) HMMPfam_F-box,superfamily_F-box domain ACTL6B 51412 genome.wustl.edu 37 7 100244667 100244667 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016188.4 -1 reviewed p.N288S 1.000 59 0% 89 34.8% 0 - benign(0.022) deleterious(0.04) neutral(0.350) HMMPfam_Actin,HMMSmart_ACTIN,superfamily_SSF53067 GNB2 2783 genome.wustl.edu 37 7 100274167 100274167 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005273.3 +1 reviewed p.K23Q 1.000 59 0% 120 32.5% 242 43.8% benign(0.005) tolerated(0.16) neutral(0.059) superfamily_WD40 repeat-like ZAN 7455 genome.wustl.edu 37 7 100333378 100333378 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003386.1 +1 reviewed p.R30H 0.000 51 0% 125 68% 0 - benign(0.293) - - NULL ZAN 7455 genome.wustl.edu 37 7 100349493 100349493 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003386.1 +1 reviewed p.E589K 0.000 405 0% 868 30.6% 0 - unknown(0) - - NULL EPHB4 2050 genome.wustl.edu 37 7 100404063 100404063 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004444.4 -1 reviewed p.Y821 1.000 100 0% 302 36.8% 152 37.5% - - - HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) EPHB4 2050 genome.wustl.edu 37 7 100410757 100410757 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004444.4 -1 reviewed p.I610 0.973 200 0% 460 31.5% 92 42.3% - - - superfamily_Protein kinase-like (PK-like) EPHB4 2050 genome.wustl.edu 37 7 100421318 100421318 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004444.4 -1 reviewed p.A120V 0.952 17 0% 24 45.8% 60 50% benign(0.004) tolerated(0.51) neutral(0.009) HMMPfam_Ephrin_lbd,HMMSmart_SM00615,superfamily_Galactose-binding domain-like ACHE 43 genome.wustl.edu 37 7 100490363 100490363 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015831.2 -1 reviewed p.E382A 1.000 16 0% 41 39% 2 50% possibly_damaging(0.77) tolerated(0.08) deleterious(0.586) HMMPfam_COesterase,superfamily_SSF53474 MUC12 10071 genome.wustl.edu 37 7 100639230 100639230 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000379442 +1 known p.E1939* 0.001 125 0% 253 34.8% 0 - - - - NULL MUC12 10071 genome.wustl.edu 37 7 100644583 100644583 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000379442 +1 known p.S3723I 0.001 1073 0% 2156 11.8% 0 - unknown(0) - - NULL MUC12 10071 genome.wustl.edu 37 7 100646659 100646659 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000379442 +1 known p.S4415F 0.002 923 0% 1839 17.9% 0 - possibly_damaging(0.922) - - NULL MUC12 10071 genome.wustl.edu 37 7 100647729 100647729 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000379442 +1 known p.E4772* 0.003 328 0% 593 34.6% 0 - - - - NULL MUC12 10071 genome.wustl.edu 37 7 100648305 100648305 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000379442 +1 known p.E4964* 0.005 308 0% 576 34.2% 0 - - - - NULL MUC17 140453 genome.wustl.edu 37 7 100677287 100677287 + Silent SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001040105.1 +1 provisional p.R864 0.000 252 0% 484 23.6% 0 - - - - NULL MUC17 140453 genome.wustl.edu 37 7 100679005 100679005 + Silent SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001040105.1 +1 provisional p.S1436 0.000 273 0% 410 27.3% 0 - - - - NULL MUC17 140453 genome.wustl.edu 37 7 100679059 100679059 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001040105.1 +1 provisional p.K1454N 0.000 213 0% 317 35% 0 - unknown(0) - - NULL MUC17 140453 genome.wustl.edu 37 7 100681359 100681359 + Missense_Mutation SNP C C A rs11979706 byCluster;byFrequency;byHapMap;by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001040105.1 +1 provisional p.P2221Q 0.042 150 0% 461 37.3% 0 - unknown(0) - - NULL MUC17 140453 genome.wustl.edu 37 7 100682949 100682949 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001040105.1 +1 provisional p.T2751I 0.161 295 0% 460 26.7% 0 - probably_damaging(0.982) - - NULL MUC17 140453 genome.wustl.edu 37 7 100684298 100684298 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001040105.1 +1 provisional p.A3201S 0.000 295 0% 541 29.6% 0 - probably_damaging(0.965) - - NULL MUC17 140453 genome.wustl.edu 37 7 100685291 100685291 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001040105.1 +1 provisional p.S3532P 0.009 162 0% 285 28.4% 0 - probably_damaging(0.995) - - NULL MUC17 140453 genome.wustl.edu 37 7 100695205 100695205 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001040105.1 +1 provisional p.L4355 0.000 138 0% 190 29.5% 0 - - - - NULL MUC17 140453 genome.wustl.edu 37 7 100701292 100701292 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001040105.1 +1 provisional p.I4483M 0.352 180 0% 281 38.1% 0 - unknown(0) - - NULL VGF 7425 genome.wustl.edu 37 7 100808074 100808074 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003378.3 -1 reviewed p.I17 0.890 21 0% 26 30.8% 4 75% - - - NULL MOGAT3 346606 genome.wustl.edu 37 7 100839478 100839478 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178176.2 -1 provisional p.I287 0.981 30 0% 62 30.6% 0 - - - - HMMPfam_DAGAT MOGAT3 346606 genome.wustl.edu 37 7 100843789 100843789 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178176.2 -1 provisional p.F39L 0.086 124 0% 347 36% 0 - benign(0.002) tolerated(0.89) - NULL PLOD3 8985 genome.wustl.edu 37 7 100849679 100849679 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000454310 -1 known p.S226F 0.006 45 0% 63 22.2% 185 44.8% - - - HMMPfam_2OG-FeII_Oxy,HMMSmart_SM00702 PLOD3 8985 genome.wustl.edu 37 7 100853834 100853834 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000454310 -1 known p.S68F 1.000 62 0% 98 29.6% 124 24.1% - - - NULL PLOD3 8985 genome.wustl.edu 37 7 100856462 100856462 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001084.4 -1 reviewed p.R235W 0.157 38 0% 70 41.4% 65 47.6% possibly_damaging(0.943) deleterious(0.02) deleterious(0.770) NULL PLOD3 8985 genome.wustl.edu 37 7 100861240 100861240 + Missense_Mutation SNP A A T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000414785 -1 known p.F4Y 0.041 19 0% 43 39.5% 5 40% unknown(0) - - NULL MYL10 93408 genome.wustl.edu 37 7 101259545 101259545 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138403.4 -1 validated p.F163C 1.000 83 0% 203 35% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_EFh,superfamily_SSF47473 MYL10 93408 genome.wustl.edu 37 7 101266313 101266313 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138403.4 -1 validated p.D105N 0.984 74 0% 99 22.2% 0 - possibly_damaging(0.778) tolerated(0.05) deleterious(0.636) HMMSmart_EFh,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_SSF47473 MYL10 93408 genome.wustl.edu 37 7 101267468 101267468 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138403.4 -1 validated p.I52S 1.000 103 0% 183 33.3% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL CUX1 1523 genome.wustl.edu 37 7 101559470 101559470 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_181552.2 +1 reviewed p.E36K 1.000 62 0% 180 28.3% 15 40% possibly_damaging(0.715) deleterious(0.01) deleterious(0.665) NULL PRKRIP1 79706 genome.wustl.edu 37 7 102036933 102036933 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024653.3 +1 validated p.K25N 1.000 9 0.000 12 0.333 24 54.1% benign(0.366) deleterious(0) deleterious(0.561) NULL FBXL13 222235 genome.wustl.edu 37 7 102669052 102669052 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145032.3 -1 validated p.L71R 0.022 175 0% 161 32.9% 0 - possibly_damaging(0.708) tolerated(0.21) neutral(0.299) NULL NAPEPLD 222236 genome.wustl.edu 37 7 102760132 102760132 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001122838.1 -1 validated p.R278Q 0.981 132 0% 234 36.3% 3 33.3% probably_damaging(0.996) deleterious(0.03) deleterious(0.826) superfamily_SSF56281 DNAJC2 27000 genome.wustl.edu 37 7 102953082 102953082 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014377.1 -1 reviewed p.V600 0.212 249 0% 300 35.3% 61 54% - - - HMMSmart_SM00717,superfamily_Homeodomain-like,HMMPfam_Myb_DNA-binding SLC26A5 375611 genome.wustl.edu 37 7 103050847 103050847 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198999.2 -1 reviewed p.I240 1.000 66 0% 82 34.1% 0 - - - - HMMPfam_Sulfate_transp SLC26A5 375611 genome.wustl.edu 37 7 103053541 103053541 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198999.2 -1 reviewed p.L104R 1.000 100 0% 128 22.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL RELN 5649 genome.wustl.edu 37 7 103124118 103124118 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005045.3 -1 reviewed p.V3388G 1.000 141 0% 240 34.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL RELN 5649 genome.wustl.edu 37 7 103151406 103151406 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005045.3 -1 reviewed p.F2722L 1.000 127 0% 167 34.7% 0 - possibly_damaging(0.943) deleterious(0.02) deleterious(0.770) superfamily_Sialidase RELN 5649 genome.wustl.edu 37 7 103159942 103159942 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005045.3 -1 reviewed p.T2564A 1.000 145 0% 216 27.3% 0 - possibly_damaging(0.877) deleterious(0.01) deleterious(0.747) NULL RELN 5649 genome.wustl.edu 37 7 103180853 103180853 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005045.3 -1 reviewed p.P2241S 1.000 53 0% 86 32.6% 0 - probably_damaging(0.999) tolerated(0.32) deleterious(0.514) NULL RELN 5649 genome.wustl.edu 37 7 103197580 103197580 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005045.3 -1 reviewed p.L1881M 0.999 200 0% 260 30.4% 0 - probably_damaging(0.999) tolerated(0.1) deleterious(0.777) NULL RELN 5649 genome.wustl.edu 37 7 103275998 103275998 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005045.3 -1 reviewed p.S780Y 1.000 155 0% 139 29.5% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL MLL5 55904 genome.wustl.edu 37 7 104741944 104741944 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018682.3 +1 reviewed p.E599* 1.000 129 0% 147 35.4% 5 20% - - - NULL SRPK2 6733 genome.wustl.edu 37 7 104909273 104909273 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182691.1 -1 validated p.E6 1.000 166 0% 238 31.5% 0 - - - - NULL ATXN7L1 222255 genome.wustl.edu 37 7 105260699 105260699 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020725.1 -1 validated p.R489* 1.000 189 0% 230 30.9% 0 - - - - NULL CDHR3 222256 genome.wustl.edu 37 7 105655580 105655580 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152750.4 +1 validated p.E416D 1.000 187 0.5% 191 27.2% 0 - benign(0.033) - - HMMSmart_SM00112,superfamily_Cadherin-like PIK3CG 5294 genome.wustl.edu 37 7 106509376 106509376 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002649.2 +1 reviewed p.K457T 1.000 95 0% 159 34% 0 - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) HMMPfam_PI3K_C2,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) PIK3CG 5294 genome.wustl.edu 37 7 106515198 106515198 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002649.2 +1 reviewed p.E781K 0.013 188 0% 187 33.2% 0 - benign(0) tolerated(0.57) neutral(0.006) superfamily_Protein kinase-like (PK-like) PIK3CG 5294 genome.wustl.edu 37 7 106523486 106523486 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002649.2 +1 reviewed p.E880K 1.000 75 0% 126 42.1% 0 - benign(0.216) deleterious(0) neutral(0.466) HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,superfamily_Protein kinase-like (PK-like) COG5 10466 genome.wustl.edu 37 7 106850985 106850985 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006348.3 -1 validated p.R818 0.997 101 0% 86 20.9% 23 30.4% - - - NULL GPR22 2845 genome.wustl.edu 37 7 107115012 107115012 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005295.2 +1 reviewed p.F169L 1.000 44 0% 21 42.9% 0 - possibly_damaging(0.797) tolerated(0.44) neutral(0.312) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like GPR22 2845 genome.wustl.edu 37 7 107115371 107115371 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005295.2 +1 reviewed p.S289Y 1.000 208 0% 114 31.6% 0 - probably_damaging(0.96) deleterious(0) deleterious(0.848) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like BCAP29 55973 genome.wustl.edu 37 7 107221278 107221278 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001008405.2 +1 validated p.I21L 0.935 164 0% 214 29.4% 11 45.4% benign(0.002) tolerated(1) - HMMPfam_Bap31 BCAP29 55973 genome.wustl.edu 37 7 107253834 107253834 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001008405.2 +1 validated p.S216L 0.993 129 0% 159 17.6% 17 17.6% benign(0.001) tolerated(0.12) neutral(0.261) HMMPfam_Bap31 SLC26A3 1811 genome.wustl.edu 37 7 107414577 107414577 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000111.2 -1 reviewed p.D599Y 0.001 390 0% 503 34.6% 0 - benign(0.359) deleterious(0.01) deleterious(0.520) HMMPfam_STAS,superfamily_STAS SLC26A3 1811 genome.wustl.edu 37 7 107414591 107414591 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000111.2 -1 reviewed p.F594C 0.006 349 0% 466 36.5% 0 - benign(0.001) tolerated(0.14) neutral(0.249) HMMPfam_STAS,superfamily_STAS LAMB1 3912 genome.wustl.edu 37 7 107600255 107600255 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002291.2 -1 reviewed p.S780L 1.000 45 0% 72 33.3% 46 15.2% possibly_damaging(0.728) deleterious(0.04) deleterious(0.614) HMMPfam_Laminin_EGF,HMMSmart_SM00180,HMMSmart_SM00181,superfamily_EGF/Laminin LAMB1 3912 genome.wustl.edu 37 7 107602031 107602031 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002291.2 -1 reviewed p.D650Y 1.000 196 0% 253 33.6% 25 8% probably_damaging(0.999) tolerated(0.15) deleterious(0.732) NULL LAMB4 22798 genome.wustl.edu 37 7 107688370 107688370 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007356.2 -1 validated p.R1437S 0.000 182 0% 252 33.7% 0 - benign(0.044) tolerated(0.59) neutral(0.007) NULL LAMB4 22798 genome.wustl.edu 37 7 107717449 107717449 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007356.2 -1 validated p.V688 0.995 158 0% 177 41.8% 0 - - - - NULL NRCAM 4897 genome.wustl.edu 37 7 107823245 107823245 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001037132.1 -1 reviewed p.V808 0.998 118 0% 159 34% 1 100% - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III IMMP2L 83943 genome.wustl.edu 37 7 110526659 110526659 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032549.2 -1 provisional p.S133Y 1.000 254 0.8% 249 33.3% 3 0% benign(0.055) tolerated(0.11) neutral(0.275) superfamily_LexA/Signal peptidase DOCK4 9732 genome.wustl.edu 37 7 111422927 111422927 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014705.3 -1 reviewed p.S1184I 1.000 282 0% 264 32.6% 2 50% possibly_damaging(0.903) deleterious(0) deleterious(0.802) NULL DOCK4 9732 genome.wustl.edu 37 7 111585841 111585841 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014705.3 -1 reviewed p.F238L 1.000 69 0% 84 34.5% 0 - benign(0.007) tolerated(1) - NULL ZNF277 11179 genome.wustl.edu 37 7 111980968 111980968 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021994.2 +1 validated p.R351W 1.000 137 0% 193 33.7% 33 36.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TMEM168 64418 genome.wustl.edu 37 7 112415367 112415367 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022484.4 -1 validated p.N379H 1.000 98 0% 131 38.2% 6 50% possibly_damaging(0.814) deleterious(0.01) deleterious(0.713) NULL TMEM168 64418 genome.wustl.edu 37 7 112424324 112424324 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022484.4 -1 validated p.A186D 1.000 69 0% 103 32% 1 100% possibly_damaging(0.536) deleterious(0) deleterious(0.625) NULL PPP1R3A 5506 genome.wustl.edu 37 7 113518162 113518162 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002711.3 -1 reviewed p.Q995H 0.000 252 0% 136 30.1% 0 - probably_damaging(0.961) deleterious(0.02) deleterious(0.787) NULL PPP1R3A 5506 genome.wustl.edu 37 7 113519043 113519043 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002711.3 -1 reviewed p.L702V 0.563 347 0% 200 31.5% 0 - probably_damaging(0.979) deleterious(0.05) deleterious(0.767) NULL PPP1R3A 5506 genome.wustl.edu 37 7 113519690 113519690 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002711.3 -1 reviewed p.R486Q 0.000 106 0% 57 33.3% 0 - possibly_damaging(0.904) deleterious(0.02) deleterious(0.742) NULL FOXP2 93986 genome.wustl.edu 37 7 114282531 114282531 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_148898.2 +1 reviewed p.D306G 1.000 268 0% 364 34.9% 0 - probably_damaging(0.995) deleterious(0.03) deleterious(0.822) NULL MET 4233 genome.wustl.edu 37 7 116339777 116339777 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001127500.1 +1 reviewed p.S213 0.000 172 0% 126 33.3% 1 100% - - - HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema MET 4233 genome.wustl.edu 37 7 116340056 116340056 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001127500.1 +1 reviewed p.K306N 1.000 81 0% 48 39.6% 0 - possibly_damaging(0.848) deleterious(0) deleterious(0.770) HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema MET 4233 genome.wustl.edu 37 7 116422057 116422057 + Missense_Mutation SNP G G T rs45541232 TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001127500.1 +1 reviewed p.D1198Y 1.000 86 0% 98 16.3% 1 100% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like CFTR 1080 genome.wustl.edu 37 7 117180158 117180158 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000492.3 +1 reviewed p.E292* 1.000 284 0.4% 235 35.7% 0 - - - - HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain CFTR 1080 genome.wustl.edu 37 7 117227878 117227878 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000492.3 +1 reviewed p.S557Y 1.000 230 0% 151 38.4% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,PatternScan_ABC_TRANSPORTER_1,superfamily_P-loop containing nucleoside triphosphate hydrolases CTTNBP2 83992 genome.wustl.edu 37 7 117358095 117358095 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033427.2 -1 reviewed p.L1575M 0.547 237 0% 324 30.9% 2 50% possibly_damaging(0.742) tolerated(0.21) neutral(0.316) NULL CTTNBP2 83992 genome.wustl.edu 37 7 117422918 117422918 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000446636 -1 known p.R278* 0.979 93 0% 88 28.4% 0 - - - - HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat CTTNBP2 83992 genome.wustl.edu 37 7 117431531 117431531 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000446636 -1 known p.E102K 0.008 243 0% 380 34.2% 1 0% - - - HMMPfam_CortBP2 CTTNBP2 83992 genome.wustl.edu 37 7 117431606 117431606 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000446636 -1 known p.K77E 1.000 209 0% 319 35.7% 1 0% - - - HMMPfam_CortBP2 ANKRD7 56311 genome.wustl.edu 37 7 117879985 117879985 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000417525 +1 known p.R191Q 0.000 261 0% 366 29% 2 100% benign(0.225) tolerated(0.12) neutral(0.283) NULL ING3 54556 genome.wustl.edu 37 7 120609089 120609089 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019071.2 +1 reviewed p.S247R 1.000 140 0.7% 211 27% 5 40% possibly_damaging(0.777) deleterious(0) deleterious(0.734) NULL C7orf58 79974 genome.wustl.edu 37 7 120765902 120765902 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024913.4 +1 validated p.F364V 0.934 470 0% 439 31.9% 1 0% benign(0.001) deleterious(0) neutral(0.445) NULL C7orf58 79974 genome.wustl.edu 37 7 120773893 120773893 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024913.4 +1 validated p.D532Y 0.001 247 0% 135 32.6% 1 0% possibly_damaging(0.837) deleterious(0.02) deleterious(0.703) NULL PTPRZ1 5803 genome.wustl.edu 37 7 121650823 121650823 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002851.2 +1 reviewed p.T575A 0.067 103 0% 64 35.9% 0 - benign(0.002) tolerated(0.13) neutral(0.253) NULL PTPRZ1 5803 genome.wustl.edu 37 7 121651862 121651862 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002851.2 +1 reviewed p.S921Y 1.000 221 0% 236 36.4% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL PTPRZ1 5803 genome.wustl.edu 37 7 121682689 121682689 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002851.2 +1 reviewed p.Y1943 0.988 158 0% 196 24.5% 1 100% - - - HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II PTPRZ1 5803 genome.wustl.edu 37 7 121701264 121701264 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002851.2 +1 reviewed p.S2313Y 1.000 122 0% 95 27.4% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL AASS 10157 genome.wustl.edu 37 7 121738871 121738871 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005763.3 -1 reviewed p.L486I 1.000 58 0% 28 14.3% 3 0% probably_damaging(0.994) tolerated(0.05) deleterious(0.797) HMMPfam_Saccharop_dh,superfamily_NAD(P)-binding Rossmann-fold domains FEZF1 389549 genome.wustl.edu 37 7 121942273 121942273 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001024613.2 -1 validated p.C398 1.000 151 0% 289 37% 6 16.6% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 FEZF1 389549 genome.wustl.edu 37 7 121942968 121942968 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001024613.2 -1 validated p.C314 1.000 118 0% 184 35.9% 4 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 FEZF1 389549 genome.wustl.edu 37 7 121943363 121943363 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001024613.2 -1 validated p.V264 0.994 111 0% 136 25.7% 3 33.3% - - - HMMSmart_ZnF_C2H2 CADPS2 93664 genome.wustl.edu 37 7 121960333 121960333 + Silent SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000397721 -1 known p.L862V 0.307 268 0% 363 32% 30 46.6% - - - NULL CADPS2 93664 genome.wustl.edu 37 7 121985672 121985672 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017954.10 -1 reviewed p.R1190* 1.000 478 0.2% 413 29.5% 11 0% - - - NULL CADPS2 93664 genome.wustl.edu 37 7 122033593 122033593 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000397721 -1 known p.L573I 0.993 130 0% 138 39.9% 6 16.6% - - - NULL RNF133 168433 genome.wustl.edu 37 7 122338543 122338543 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_139175.1 -1 reviewed p.H144N 0.999 163 0% 145 34.5% 0 - possibly_damaging(0.823) tolerated(0.07) deleterious(0.631) HMMPfam_PA,superfamily_SSF52025 CADPS2 93664 genome.wustl.edu 37 7 122377022 122377022 + Missense_Mutation SNP C C T rs187155107 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017954.10 -1 reviewed p.R147Q 0.947 206 0% 190 25.3% 3 0% possibly_damaging(0.516) tolerated(1) neutral(0.173) NULL TAS2R16 50833 genome.wustl.edu 37 7 122635169 122635169 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016945.2 -1 reviewed p.H174N 0.000 230 0% 214 34.1% 0 - benign(0.22) tolerated(0.32) neutral(0.045) HMMPfam_TAS2R TAS2R16 50833 genome.wustl.edu 37 7 122635482 122635482 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016945.2 -1 reviewed p.C69 0.000 74 0% 53 34% 0 - - - - HMMPfam_TAS2R SLC13A1 6561 genome.wustl.edu 37 7 122839969 122839969 + Missense_Mutation SNP C C T rs143242073 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022444.3 -1 validated p.R11H 0.990 118 0% 72 29.2% 0 - unknown(0) - - HMMPfam_Na_sulph_symp ASB15 142685 genome.wustl.edu 37 7 123269343 123269343 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_080928.3 +1 validated p.L432R 1.000 220 0% 321 28.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Ankyrin repeat HYAL4 23553 genome.wustl.edu 37 7 123508443 123508443 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012269.2 +1 reviewed p.R39Q 0.318 256 0% 195 31.8% 0 - benign(0.003) tolerated(0.52) neutral(0.009) HMMPfam_Glyco_hydro_56 HYAL4 23553 genome.wustl.edu 37 7 123508855 123508855 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012269.2 +1 reviewed p.K176N 0.010 59 0% 65 23.1% 0 - benign(0.002) tolerated(0.3) neutral(0.029) HMMPfam_Glyco_hydro_56,superfamily_Glyco_hydro_cat HYAL4 23553 genome.wustl.edu 37 7 123517105 123517105 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012269.2 +1 reviewed p.E448* 0.794 184 0% 220 39.5% 0 - - - - NULL SPAM1 6677 genome.wustl.edu 37 7 123594119 123594119 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003117.4 +1 reviewed p.K165N 0.006 82 0% 57 31.6% 0 - benign(0.378) deleterious(0) deleterious(0.565) HMMPfam_Glyco_hydro_56,superfamily_Glyco_hydro_cat SPAM1 6677 genome.wustl.edu 37 7 123599765 123599765 + Missense_Mutation SNP A A T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003117.4 +1 reviewed p.E424D 0.000 233 0% 130 35.4% 0 - benign(0.001) tolerated(0.38) neutral(0.018) NULL GPR37 2861 genome.wustl.edu 37 7 124386935 124386935 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005302.2 -1 provisional p.A496T 1.000 104 0% 132 32.6% 21 42.8% probably_damaging(0.987) deleterious(0.01) deleterious(0.842) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like POT1 25913 genome.wustl.edu 37 7 124482862 124482862 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015450.2 -1 reviewed p.L388M 0.951 160 0% 197 35% 8 50% probably_damaging(0.979) tolerated(0.18) deleterious(0.478) NULL GRM8 2918 genome.wustl.edu 37 7 126542657 126542657 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000845.2 -1 reviewed p.E365D 1.000 333 0% 331 35% 0 - benign(0) tolerated(0.76) neutral(0.001) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I GRM8 2918 genome.wustl.edu 37 7 126882821 126882821 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000845.2 -1 reviewed p.K146N 1.000 204 0% 172 32% 0 - possibly_damaging(0.914) tolerated(0.18) neutral(0.422) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I ZNF800 168850 genome.wustl.edu 37 7 127014678 127014678 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000265827 -1 known p.E238* 1.000 275 0.4% 336 29.8% 3 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2 GCC1 79571 genome.wustl.edu 37 7 127222277 127222277 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024523.5 -1 reviewed p.E707K 0.926 278 0% 399 25.1% 21 57.1% benign(0) tolerated(0.81) neutral(0.001) NULL PAX4 5078 genome.wustl.edu 37 7 127254590 127254590 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006193.2 -1 reviewed p.L120M 0.996 127 0% 188 34% 0 - probably_damaging(0.997) deleterious(0.02) deleterious(0.849) HMMPfam_PAX,HMMSmart_PAX,superfamily_Homeodomain_like LRRC4 64101 genome.wustl.edu 37 7 127670216 127670216 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022143.4 -1 validated p.E160K 1.000 82 0% 104 34.6% 4 50% benign(0.31) tolerated(0.12) neutral(0.357) HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like IMPDH1 3614 genome.wustl.edu 37 7 128037057 128037057 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000883.3 -1 reviewed p.S365L 1.000 106 0% 227 33.9% 16 43.7% possibly_damaging(0.81) deleterious(0) deleterious(0.750) HMMPfam_IMPDH,superfamily_SSF51412 FAM71F2 346653 genome.wustl.edu 37 7 128315753 128315753 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001012454.3 +1 validated p.D69N 0.169 56 0% 74 32.4% 1 100% probably_damaging(0.981) deleterious(0.01) deleterious(0.831) NULL CCDC136 64753 genome.wustl.edu 37 7 128441290 128441290 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022742.3 +1 validated p.E133* 0.998 112 0% 185 39.5% 2 0% - - - NULL FAM40B 57464 genome.wustl.edu 37 7 129125455 129125455 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020704.2 +1 validated p.E764* 1.000 74 0% 103 44.7% 1 0% - - - NULL NRF1 4899 genome.wustl.edu 37 7 129317486 129317486 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001040110.1 +1 reviewed p.T118M 1.000 147 0% 278 32% 4 25% probably_damaging(0.996) tolerated(0.05) deleterious(0.807) HMMPfam_Nrf1_DNA-bind NRF1 4899 genome.wustl.edu 37 7 129350253 129350253 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001040110.1 +1 reviewed p.C269G 1.000 131 0% 251 38.2% 14 71.4% probably_damaging(0.963) deleterious(0.01) deleterious(0.811) HMMPfam_Nrf1_DNA-bind CPA4 51200 genome.wustl.edu 37 7 129933075 129933075 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016352.3 +1 reviewed p.E19* 0.862 247 0% 302 30.5% 0 - - - - superfamily_Protease propeptides/inhibitors CPA5 93979 genome.wustl.edu 37 7 130008376 130008376 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001127441.1 +1 validated p.A417T 0.998 147 0% 118 31.4% 1 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Peptidase_M14,HMMSmart_SM00631,superfamily_Zn-dependent exopeptidases MKLN1 4289 genome.wustl.edu 37 7 131071967 131071967 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013255.4 +1 validated p.K86T 1.000 220 0% 312 31.1% 3 33.3% probably_damaging(0.98) tolerated(0.1) deleterious(0.710) superfamily_Galactose-binding domain-like,HMMPfam_Muskelin_N MKLN1 4289 genome.wustl.edu 37 7 131128290 131128290 + Silent SNP T T A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013255.4 +1 validated p.I408 1.000 240 0% 324 33% 11 45.4% - - - superfamily_Galactose oxidase central domain MKLN1 4289 genome.wustl.edu 37 7 131155689 131155689 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013255.4 +1 validated p.E673* 1.000 224 0% 209 34.4% 21 14.2% - - - NULL PLXNA4 91584 genome.wustl.edu 37 7 131831426 131831426 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020911.1 -1 validated p.S1633I 1.000 177 0.6% 207 38.2% 1 0% probably_damaging(0.994) tolerated(0.43) neutral(0.466) superfamily_GTPase activation domain GAP,HMMPfam_Plexin_cytopl PLXNA4 91584 genome.wustl.edu 37 7 131849946 131849946 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020911.1 -1 validated p.A1434T 1.000 150 0% 216 29.6% 2 50% possibly_damaging(0.915) deleterious(0.01) deleterious(0.772) superfamily_GTPase activation domain GAP,HMMPfam_Plexin_cytopl PLXNA4 91584 genome.wustl.edu 37 7 131872290 131872290 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020911.1 -1 validated p.N978S 1.000 225 0% 163 25.8% 0 - possibly_damaging(0.594) tolerated(0.45) neutral(0.217) HMMPfam_TIG,HMMSmart_SM00429,superfamily_E set domains PLXNA4 91584 genome.wustl.edu 37 7 131895873 131895873 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020911.1 -1 validated p.K709N 1.000 54 0% 52 42.3% 0 - benign(0.087) deleterious(0.02) neutral(0.390) NULL PLXNA4 91584 genome.wustl.edu 37 7 132193118 132193118 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020911.1 -1 validated p.N112S 1.000 73 0% 92 37% 0 - benign(0.008) deleterious(0.05) neutral(0.345) HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain LRGUK 136332 genome.wustl.edu 37 7 133943142 133943142 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144648.1 +1 provisional p.E778K 0.001 108 0% 137 38% 2 0% benign(0.026) tolerated(0.13) neutral(0.254) NULL CALD1 800 genome.wustl.edu 37 7 134552545 134552545 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033138.3 +1 reviewed p.E21K 0.997 124 0% 301 30.6% 31 0% benign(0.043) - - HMMPfam_Caldesmon CALD1 800 genome.wustl.edu 37 7 134618446 134618446 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033138.3 +1 reviewed p.R309I 0.007 581 0% 1198 32.5% 1 0% unknown(0) tolerated(0.11) - HMMPfam_Caldesmon CALD1 800 genome.wustl.edu 37 7 134625977 134625977 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033138.3 +1 reviewed p.E507D 1.000 94 0% 139 23.7% 42 7.1% unknown(0) tolerated(0.07) - HMMPfam_Caldesmon WDR91 29062 genome.wustl.edu 37 7 134882867 134882867 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014149.3 -1 validated p.D310N 1.000 55 0% 46 43.5% 7 57.1% possibly_damaging(0.825) deleterious(0.01) deleterious(0.718) NULL STRA8 346673 genome.wustl.edu 37 7 134928122 134928122 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182489.1 +1 provisional p.V127I 1.000 185 0% 379 29.8% 0 - possibly_damaging(0.757) tolerated(0.46) neutral(0.292) NULL CHRM2 1129 genome.wustl.edu 37 7 136700188 136700188 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000739.2 +1 reviewed p.I192 0.785 83 0% 48 20.8% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like DGKI 9162 genome.wustl.edu 37 7 137151664 137151664 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000453654 -1 known p.R541Q 1.000 167 0% 163 30.7% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL DGKI 9162 genome.wustl.edu 37 7 137170135 137170135 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004717.2 -1 reviewed p.Q804 1.000 267 0% 146 32.2% 0 - - - - NULL DGKI 9162 genome.wustl.edu 37 7 137172414 137172414 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004717.2 -1 reviewed p.V775G 1.000 154 0% 129 27.1% 2 0% probably_damaging(0.995) tolerated(0.24) deleterious(0.495) NULL SVOPL 136306 genome.wustl.edu 37 7 138281184 138281184 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001139456.1 -1 validated p.E482G 1.000 99 0% 121 33.1% 1 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) superfamily_MFS general substrate transporter SVOPL 136306 genome.wustl.edu 37 7 138344672 138344672 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001139456.1 -1 validated p.S136L 0.997 124 0% 326 34.4% 0 - possibly_damaging(0.789) tolerated(0.14) deleterious(0.545) HMMPfam_MFS_1,superfamily_MFS general substrate transporter ATP6V0A4 50617 genome.wustl.edu 37 7 138447695 138447695 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020632.2 -1 reviewed p.E123K 1.000 399 0% 543 31.1% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_V_ATPase_I KIAA1549 57670 genome.wustl.edu 37 7 138554405 138554405 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020910.2 -1 validated p.D1502Y 1.000 39 0% 58 31% 14 28.5% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL UBN2 254048 genome.wustl.edu 37 7 138957074 138957074 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173569.3 +1 validated p.R452C 1.000 135 0% 183 32.2% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL HIPK2 28996 genome.wustl.edu 37 7 139268663 139268663 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022740.4 -1 validated p.A606V 0.140 236 0% 371 34.5% 4 0% - - - NULL HIPK2 28996 genome.wustl.edu 37 7 139416729 139416729 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000263551 -1 known p.P35 0.996 212 0% 327 43.4% 4 25% - - - NULL PARP12 64761 genome.wustl.edu 37 7 139737552 139737552 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022750.2 -1 provisional p.F429L 0.997 44 0% 53 26.4% 5 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL DENND2A 27147 genome.wustl.edu 37 7 140244477 140244477 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015689.3 -1 validated p.V756 0.999 70 0% 142 43% 1 0% - - - HMMPfam_DENN,HMMSmart_SM00799 DENND2A 27147 genome.wustl.edu 37 7 140285394 140285394 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015689.3 -1 validated p.T414A 0.658 134 0% 240 30.8% 3 0% benign(0) tolerated(0.19) neutral(0.050) NULL BRAF 673 genome.wustl.edu 37 7 140482852 140482852 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004333.4 -1 reviewed p.S428* 1.000 150 0% 214 37.4% 3 66.6% - - - NULL TAS2R3 50831 genome.wustl.edu 37 7 141464166 141464166 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016943.2 +1 reviewed p.E70* 0.000 275 0% 321 32.4% 0 - - - - HMMPfam_TAS2R,superfamily_Family A G protein-coupled receptor-like OR9A4 130075 genome.wustl.edu 37 7 141619273 141619273 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001001656.1 +1 provisional p.F200V 0.830 253 0% 341 33.7% 0 - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like TAS2R38 5726 genome.wustl.edu 37 7 141673045 141673045 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_176817.4 -1 reviewed p.L149I 0.000 91 0% 123 33.3% 0 - benign(0.032) tolerated(0.21) neutral(0.045) HMMPfam_TAS2R,superfamily_SSF81321 MGAM 8972 genome.wustl.edu 37 7 141708503 141708503 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004668.2 +1 reviewed p.K109E 0.992 146 0% 83 38.6% 0 - possibly_damaging(0.937) tolerated(0.34) neutral(0.406) HMMPfam_Trefoil MGAM 8972 genome.wustl.edu 37 7 141724905 141724905 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004668.2 +1 reviewed p.S313I 1.000 383 0.3% 453 33.8% 0 - possibly_damaging(0.659) deleterious(0.01) deleterious(0.638) NULL MGAM 8972 genome.wustl.edu 37 7 141730229 141730229 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004668.2 +1 reviewed p.F430C 0.012 257 0% 220 30.9% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Glyco_hydro_31 MGAM 8972 genome.wustl.edu 37 7 141738373 141738373 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004668.2 +1 reviewed p.F758L 0.101 93 0% 89 27% 0 - possibly_damaging(0.898) tolerated(0.23) neutral(0.396) HMMPfam_Glyco_hydro_31 MGAM 8972 genome.wustl.edu 37 7 141752763 141752763 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004668.2 +1 reviewed p.K1046 0.749 137 0% 151 27.2% 0 - - - - NULL MGAM 8972 genome.wustl.edu 37 7 141754553 141754553 + Splice_Site SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004668.2 +1 reviewed e26-1 1.000 150 0% 145 39.3% 0 - - - - - MGAM 8972 genome.wustl.edu 37 7 141778133 141778133 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000475668 +1 known p.D1838N 0.946 61 0% 50 26% 0 - unknown(0) tolerated(0.66) - NULL MGAM 8972 genome.wustl.edu 37 7 141783194 141783194 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000475668 +1 known p.V2122A 1.000 145 0% 176 28.4% 0 - unknown(0) tolerated(0.1) - HMMPfam_Glyco_hydro_31 TRBV6-9 28598 genome.wustl.edu 37 7 142104260 142104260 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000390379 -1 known p.V69F 0.000 289 0% 430 33% 0 - benign(0) tolerated(0.59) neutral(0.004) HMMPfam_V-set,superfamily_SSF48726 TRBV7-7 28591 genome.wustl.edu 37 7 142119920 142119920 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000390377 -1 known p.R83W 0.000 143 0% 224 33% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 TRBV27 28560 genome.wustl.edu 37 7 142423663 142423663 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000390399 +1 known p.L107M 0.000 45 0% 77 40.3% 0 - benign(0.056) tolerated(0.09) neutral(0.300) HMMSmart_SM00406,HMMPfam_V-set,superfamily_Immunoglobulin TRBV29-1 28558 genome.wustl.edu 37 7 142448473 142448473 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000422143 +1 known p.P23T 0.982 148 0% 130 33.8% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_V-set,superfamily_SSF48726 TRPV5 56302 genome.wustl.edu 37 7 142606730 142606730 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019841.4 -1 reviewed p.K607N 1.000 84 0% 93 26.9% 0 - probably_damaging(1) deleterious(0.05) deleterious(0.845) NULL KEL 3792 genome.wustl.edu 37 7 142658027 142658027 + Missense_Mutation SNP G G A rs184131044 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000420.2 -1 reviewed p.R130W 0.045 246 0% 354 31.1% 0 - benign(0.041) tolerated(0.1) neutral(0.289) "HMMPfam_Peptidase_M13_N,superfamily_Metalloproteases (""zincins"") catalytic domain" TAS2R39 259285 genome.wustl.edu 37 7 142880675 142880675 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_176881.2 +1 provisional p.I55S 0.560 220 0% 251 31.1% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_TAS2R,superfamily_SSF81321 TAS2R39 259285 genome.wustl.edu 37 7 142881330 142881330 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_176881.2 +1 provisional p.F273L 0.735 199 0% 248 33.5% 0 - benign(0.012) tolerated(0.42) neutral(0.015) HMMPfam_TAS2R,superfamily_SSF81321 CLCN1 1180 genome.wustl.edu 37 7 143018475 143018475 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000083.2 +1 reviewed p.A151T 0.765 251 0% 350 33.1% 0 - benign(0.001) tolerated(0.48) neutral(0.011) superfamily_Clc chloride channel TAS2R41 259287 genome.wustl.edu 37 7 143175295 143175295 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_176883.2 +1 provisional p.K110 0.999 139 0% 152 38.2% 0 - - - - HMMPfam_TAS2R,superfamily_SSF81321 TAS2R41 259287 genome.wustl.edu 37 7 143175748 143175748 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_176883.2 +1 provisional p.Q261H 0.075 307 0% 385 40.5% 0 - probably_damaging(0.968) tolerated(0.12) deleterious(0.670) HMMPfam_TAS2R,superfamily_SSF81321 FAM115A 9747 genome.wustl.edu 37 7 143573678 143573678 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014719.1 -1 predicted p.F8 0.940 68 0% 109 33.9% 5 60% - - - NULL OR2F2 135948 genome.wustl.edu 37 7 143633203 143633203 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004685.1 +1 provisional p.R293M 0.914 112 0% 165 30.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Family A G protein-coupled receptor-like OR2F2 135948 genome.wustl.edu 37 7 143633232 143633232 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004685.1 +1 provisional p.K303E 0.799 67 0% 88 38.6% 0 - probably_damaging(0.985) deleterious(0.01) deleterious(0.838) superfamily_Family A G protein-coupled receptor-like OR2A5 393046 genome.wustl.edu 37 7 143747770 143747770 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012365.1 +1 provisional p.I92 0.992 152 0% 247 32% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR2A5 393046 genome.wustl.edu 37 7 143747892 143747892 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012365.1 +1 provisional p.S133Y 0.968 158 0% 252 29.8% 0 - possibly_damaging(0.44) deleterious(0.01) deleterious(0.549) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR2A25 392138 genome.wustl.edu 37 7 143771516 143771516 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004488.1 +1 provisional p.V68 0.000 139 0.7% 175 33.7% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR2A25 392138 genome.wustl.edu 37 7 143772230 143772230 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004488.1 +1 provisional p.K306N 0.003 120 0% 115 29.6% 0 - benign(0.01) deleterious(0.02) neutral(0.384) superfamily_SSF81321 OR2A12 346525 genome.wustl.edu 37 7 143792270 143792270 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004135.1 +1 provisional p.L24 0.000 328 0% 407 29.7% 0 - - - - superfamily_Family A G protein-coupled receptor-like ARHGEF35 445328 genome.wustl.edu 37 7 143884023 143884023 + Nonstop_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001003702.2 -1 validated p.*485L 0.017 19 0% 19 42.1% 10 100% - - - NULL OR2A42 402317 genome.wustl.edu 37 7 143929875 143929875 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001001802.1 -1 provisional p.R15M 0.015 181 0% 192 14.6% 0 - benign(0.005) tolerated(0.06) neutral(0.323) superfamily_Family A G protein-coupled receptor-like OR2A7 401427 genome.wustl.edu 37 7 143956260 143956260 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005328.1 -1 provisional p.L154 0.000 293 0% 523 9.6% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like LOC728377 728377 genome.wustl.edu 37 7 143983168 143983168 + RNA SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XR_078379.1 -1 model NULL 0.001 430 0% 786 28.5% 5 20% - - - - ARHGEF5 7984 genome.wustl.edu 37 7 144059984 144059984 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005435.3 +1 reviewed p.T74 0.000 368 0.3% 589 13.6% 4 25% - - - NULL NOBOX 135935 genome.wustl.edu 37 7 144095567 144095567 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000467773 -1 known p.F528V 0.001 146 0% 402 30.8% 1 0% benign(0.195) deleterious(0) neutral(0.463) NULL TPK1 27010 genome.wustl.edu 37 7 144150652 144150652 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022445.3 -1 reviewed p.A240T 1.000 171 0% 163 32.5% 0 - possibly_damaging(0.711) tolerated(0.13) deleterious(0.510) superfamily_TPK_B1_bd CNTNAP2 26047 genome.wustl.edu 37 7 147092835 147092835 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014141.5 +1 reviewed p.A545T 1.000 134 0% 83 34.9% 0 - possibly_damaging(0.538) deleterious(0.04) deleterious(0.531) superfamily_Concanavalin A-like lectins/glucanases CNTNAP2 26047 genome.wustl.edu 37 7 147926862 147926862 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014141.5 +1 reviewed p.I1124 0.000 160 0% 217 31.8% 0 - - - - HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 LOC643438 643438 genome.wustl.edu 37 7 148334301 148334301 + RNA SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XR_015310.2 +1 model NULL 0.156 121 0% 229 30.1% 0 - - - - - CUL1 8454 genome.wustl.edu 37 7 148454195 148454195 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003592.2 +1 validated p.R146C 1.000 178 0% 316 35.4% 15 40% possibly_damaging(0.945) deleterious(0) deleterious(0.834) HMMPfam_Cullin,superfamily_Cullin repeat EZH2 2146 genome.wustl.edu 37 7 148523717 148523717 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004456.3 -1 reviewed p.E246* 1.000 95 1.1% 117 38.5% 5 20% - - - HMMSmart_SANT ZNF786 136051 genome.wustl.edu 37 7 148771551 148771551 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152411.3 -1 validated p.Q75 0.004 209 0% 441 25.9% 4 50% - - - NULL ZNF467 168544 genome.wustl.edu 37 7 149467625 149467625 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_207336.1 -1 provisional p.E19* 1.000 89 0% 135 25.2% 7 0% - - - NULL SSPO 23145 genome.wustl.edu 37 7 149482289 149482289 + Missense_Mutation SNP C C G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000378016 +1 known p.T988S 1.000 86 0% 96 34.4% 0 - - - - superfamily_Serine proterase inhibitors,HMMSmart_SM00215,superfamily_PMP inhibitors SSPO 23145 genome.wustl.edu 37 7 149494378 149494378 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000378016 +1 known p.K2283N 0.398 114 0% 115 27% 0 - - - - NULL SSPO 23145 genome.wustl.edu 37 7 149522371 149522371 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000378016 +1 known p.S4667R 1.000 52 0% 53 37.7% 0 - - - - superfamily_Serine proterase inhibitors ZNF862 643641 genome.wustl.edu 37 7 149545038 149545038 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001099220.1 +1 provisional p.M152I 0.532 94 0% 148 31.1% 9 44.4% benign(0.002) deleterious(0.01) neutral(0.406) HMMSmart_SM00597 GIMAP8 155038 genome.wustl.edu 37 7 150164222 150164222 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_175571.2 +1 reviewed p.D146Y 0.293 145 0% 184 30.4% 0 - probably_damaging(0.984) deleterious(0.01) deleterious(0.836) HMMPfam_AIG1,superfamily_SSF52540 GIMAP8 155038 genome.wustl.edu 37 7 150171653 150171653 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_175571.2 +1 reviewed p.A412 0.002 101 0% 166 30.7% 1 0% - - - HMMPfam_AIG1,superfamily_SSF52540 GIMAP8 155038 genome.wustl.edu 37 7 150174839 150174839 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_175571.2 +1 reviewed p.L657I 0.003 42 0% 45 33.3% 2 0% benign(0.004) tolerated(0.28) neutral(0.032) superfamily_SSF52540 ABP1 26 genome.wustl.edu 37 7 150557692 150557692 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001091.2 +1 reviewed p.L654I 1.000 130 0% 141 29.8% 0 - benign(0.023) tolerated(1) neutral(0.001) HMMPfam_Cu_amine_oxid,superfamily_Amine oxidase catalytic domain ATG9B 285973 genome.wustl.edu 37 7 150715069 150715069 + Silent SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173681.5 -1 validated p.P647 0.170 98 0% 184 34.8% 2 50% - - - HMMPfam_APG9 SLC4A2 6522 genome.wustl.edu 37 7 150761715 150761715 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003040.3 +1 validated p.R107Q 0.997 95 0% 120 42.5% 40 32.5% probably_damaging(0.963) deleterious(0.03) deleterious(0.770) NULL SMARCD3 6604 genome.wustl.edu 37 7 150936821 150936821 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001003801.1 -1 reviewed p.T395 1.000 182 0% 285 33.7% 22 9% - - - NULL GALNTL5 168391 genome.wustl.edu 37 7 151711728 151711728 + Splice_Site SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145292.3 +1 validated e7-1 1.000 107 0% 200 29% 0 - - - - - MLL3 58508 genome.wustl.edu 37 7 151856008 151856008 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000360104 -1 known p.G1376* 1.000 457 0.2% 646 32.8% 6 66.6% probably_damaging(0.999) - - NULL MLL3 58508 genome.wustl.edu 37 7 151873366 151873366 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_170606.2 -1 reviewed p.L3058I 1.000 279 0% 331 33.2% 3 0% probably_damaging(0.995) - - NULL MLL3 58508 genome.wustl.edu 37 7 151878883 151878883 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_170606.2 -1 reviewed p.R2021M 0.763 105 0% 205 25.4% 2 50% probably_damaging(0.992) - - NULL MLL3 58508 genome.wustl.edu 37 7 151884866 151884866 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_170606.2 -1 reviewed p.S1576Y 0.934 175 0% 231 32% 2 0% probably_damaging(0.992) - - NULL MLL3 58508 genome.wustl.edu 37 7 152009030 152009030 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_170606.2 -1 reviewed p.E198* 1.000 63 0% 72 31.9% 2 0% - - - NULL DPP6 1804 genome.wustl.edu 37 7 154667655 154667655 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000377770 +1 known p.F641 0.993 80 0% 98 41.8% 0 - - - - HMMPfam_Peptidase_S9,superfamily_alpha/beta-Hydrolases LOC100132707 100132707 genome.wustl.edu 37 7 154738320 154738320 + RNA SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NR_024476.1 +1 validated NULL 0.000 124 0% 155 30.3% 2 0% - - - - HTR5A 3361 genome.wustl.edu 37 7 154863198 154863198 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024012.2 +1 reviewed p.E197K 1.000 89 1.1% 111 27% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like RBM33 155435 genome.wustl.edu 37 7 155493618 155493618 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000392761 +1 known p.G12* 1.000 126 0% 246 31.7% 23 56.5% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL RNF32 140545 genome.wustl.edu 37 7 156447397 156447397 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030936.2 +1 reviewed p.F134 0.443 100 0% 155 33.5% 3 33.3% - - - HMMSmart_SM00184,HMMPfam_zf-C3HC4,superfamily_RING/U-box UBE3C 9690 genome.wustl.edu 37 7 157023978 157023978 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014671.2 +1 validated p.S813Y 1.000 111 0% 110 27.3% 21 42.8% benign(0.045) tolerated(0.18) neutral(0.059) HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain DNAJB6 10049 genome.wustl.edu 37 7 157151315 157151315 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_058246.3 +1 reviewed p.E17K 1.000 136 0% 300 33.7% 50 36% possibly_damaging(0.947) tolerated(0.09) deleterious(0.687) HMMPfam_DnaJ,HMMSmart_SM00271,superfamily_Chaperone J-domain PTPRN2 5799 genome.wustl.edu 37 7 157396736 157396736 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002847.3 -1 reviewed p.E792D 0.995 47 0% 60 48.3% 0 - benign(0.069) tolerated(0.21) neutral(0.048) HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II PTPRN2 5799 genome.wustl.edu 37 7 157985044 157985044 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002847.3 -1 reviewed p.T175M 0.000 36 0% 33 24.2% 0 - benign(0) tolerated(0.2) neutral(0.049) NULL PTPRN2 5799 genome.wustl.edu 37 7 157997904 157997904 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002847.3 -1 reviewed p.P113 0.160 167 0% 246 32.9% 0 - - - - NULL NCAPG2 54892 genome.wustl.edu 37 7 158486103 158486103 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017760.5 -1 validated p.K55 0.522 324 0% 426 32.6% 2 50% - - - NULL ZNF596 169270 genome.wustl.edu 37 8 192960 192960 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001042415.1 +1 validated p.R29I 0.506 175 0% 226 29.2% 1 0% probably_damaging(0.96) deleterious(0) deleterious(0.848) HMMSmart_SM00349 ZNF596 169270 genome.wustl.edu 37 8 195911 195911 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001042415.1 +1 validated p.R355Q 0.998 148 0% 179 31.3% 0 - probably_damaging(0.998) tolerated(0.11) deleterious(0.746) PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355 ZNF596 169270 genome.wustl.edu 37 8 196079 196079 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001042415.1 +1 validated p.R411I 0.608 171 0% 189 37.6% 2 50% probably_damaging(0.998) deleterious(0) deleterious(0.919) PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355 ZNF596 169270 genome.wustl.edu 37 8 196231 196231 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001042415.1 +1 validated p.F462V 0.000 114 0% 140 29.3% 2 0% possibly_damaging(0.633) deleterious(0.05) deleterious(0.567) PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355 C8orf42 157695 genome.wustl.edu 37 8 442598 442598 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_175075.3 -1 validated p.S120L 0.001 194 0% 192 31.2% 1 0% benign(0.003) tolerated(0.27) neutral(0.034) NULL LOC100291724 100291724 genome.wustl.edu 37 8 1824810 1824810 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002346095.1 -1 model p.S41L 0.583 330 0% 539 32.1% 0 - - - - NULL ARHGEF10 9639 genome.wustl.edu 37 8 1824892 1824892 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014629.2 +1 reviewed p.K279E 0.998 170 0% 304 31.2% 3 0% possibly_damaging(0.7) tolerated(0.28) neutral(0.283) NULL ARHGEF10 9639 genome.wustl.edu 37 8 1905423 1905423 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014629.2 +1 reviewed p.N1343K 0.001 7 0.000 6 0.667 3 0% benign(0.005) tolerated(0.13) neutral(0.253) NULL MYOM2 9172 genome.wustl.edu 37 8 2057201 2057201 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003970.2 +1 validated p.S1020L 0.966 213 0% 259 32.8% 0 - possibly_damaging(0.813) deleterious(0) deleterious(0.752) NULL MYOM2 9172 genome.wustl.edu 37 8 2065711 2065711 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003970.2 +1 validated p.T1141 0.347 292 0% 408 17.9% 2 0% - - - superfamily_SSF48726 MYOM2 9172 genome.wustl.edu 37 8 2088702 2088702 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003970.2 +1 validated p.A1286D 1.000 139 0% 211 28.9% 1 0% probably_damaging(0.996) tolerated(0.09) deleterious(0.758) superfamily_SSF48726 CSMD1 64478 genome.wustl.edu 37 8 2910029 2910029 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033225.5 -1 validated p.E2540* 1.000 136 0% 156 27.6% 0 - - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CSMD1 64478 genome.wustl.edu 37 8 2966166 2966166 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033225.5 -1 validated p.S2239N 1.000 173 0% 303 30% 0 - probably_damaging(0.955) tolerated(0.1) deleterious(0.685) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CSMD1 64478 genome.wustl.edu 37 8 3047542 3047542 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033225.5 -1 validated p.R1765* 0.778 159 0% 158 29.7% 0 - - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CSMD1 64478 genome.wustl.edu 37 8 3059241 3059241 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033225.5 -1 validated p.F1665S 1.000 163 0% 115 33% 0 - benign(0.055) tolerated(0.13) neutral(0.256) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain ANGPT2 285 genome.wustl.edu 37 8 6389979 6389979 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001147.2 -1 reviewed p.K106N 0.997 343 0% 521 35.5% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL AGPAT5 55326 genome.wustl.edu 37 8 6582429 6582429 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018361.3 +1 reviewed p.N86K 1.000 102 0% 85 44.7% 3 0% possibly_damaging(0.827) deleterious(0) deleterious(0.758) HMMPfam_Acyltransferase,superfamily_SSF69593 AGPAT5 55326 genome.wustl.edu 37 8 6590133 6590133 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018361.3 +1 reviewed p.R153* 0.917 138 0% 168 30.4% 5 20% - - - HMMPfam_Acyltransferase,HMMSmart_PlsC,superfamily_SSF69593 AGPAT5 55326 genome.wustl.edu 37 8 6612681 6612681 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018361.3 +1 reviewed p.F285 1.000 94 0% 201 32.8% 8 62.5% - - - superfamily_SSF69593 XKR5 389610 genome.wustl.edu 37 8 6668786 6668786 + Missense_Mutation SNP G G T rs11780406 byCluster;byHapMap TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000409172 -1 known p.S664Y 0.238 91 0% 140 17.9% 0 - - - - NULL XKR5 389610 genome.wustl.edu 37 8 6669420 6669420 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000409172 -1 known p.E453* 0.018 223 0% 252 26.2% 0 - - - - NULL XKR5 389610 genome.wustl.edu 37 8 6673426 6673426 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_207411.4 -1 validated p.E274D 1.000 82 0% 153 31.4% 0 - - - - HMMPfam_XK-related ENSG00000216206 0 genome.wustl.edu 37 8 6973455 6973455 + RNA SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000401387 -1 novel NULL 0.045 125 0% 176 16.5% 0 - - - - - USP17L1P 401447 genome.wustl.edu 37 8 7190976 7190976 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000382655 +1 known p.V356 0.040 32 0% 64 18.8% 0 - - - - HMMPfam_UCH,superfamily_SSF54001 ZNF705G 100131980 genome.wustl.edu 37 8 7215658 7215658 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000400156 -1 known p.R248I 0.967 522 0.2% 597 18.6% 0 - possibly_damaging(0.695) deleterious(0) deleterious(0.694) HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 DEFB106B 503841 genome.wustl.edu 37 8 7340190 7340190 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001040704.1 -1 reviewed p.A45D 0.003 477 0% 486 15.2% 0 - benign(0.008) deleterious(0.01) neutral(0.406) NULL DEFB104A 140596 genome.wustl.edu 37 8 7694054 7694054 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_080389.2 +1 reviewed p.Q16 0.001 633 0% 700 15.9% 0 - - - - NULL SGK223 157285 genome.wustl.edu 37 8 8185743 8185743 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080826.1 -1 validated p.S850L 0.999 143 0% 262 36.3% 37 43.2% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL SGK223 157285 genome.wustl.edu 37 8 8197000 8197000 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080826.1 -1 validated p.D770N 1.000 89 0% 115 31.3% 29 51.7% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL MFHAS1 9258 genome.wustl.edu 37 8 8748366 8748366 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004225.2 -1 reviewed p.D735N 1.000 106 0.9% 228 30.3% 5 20% possibly_damaging(0.475) deleterious(0.03) deleterious(0.521) superfamily_Polo-box domain PPP1R3B 79660 genome.wustl.edu 37 8 8998330 8998330 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024607.2 -1 validated p.Y278H 0.979 128 0% 182 35.2% 5 40% probably_damaging(0.996) tolerated(0.3) deleterious(0.490) NULL PPP1R3B 79660 genome.wustl.edu 37 8 8998766 8998766 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024607.2 -1 validated p.H132 0.289 84 0% 188 34.6% 9 33.3% - - - HMMPfam_CBM_21 TNKS 8658 genome.wustl.edu 37 8 9437894 9437894 + Splice_Site SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003747.2 +1 validated e2+1 1.000 149 0% 241 34% 3 100% - - - - TNKS 8658 genome.wustl.edu 37 8 9588456 9588456 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003747.2 +1 validated p.T686 0.009 146 0% 150 34.7% 4 75% - - - HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat TNKS 8658 genome.wustl.edu 37 8 9610113 9610113 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003747.2 +1 validated p.R1044W 0.998 174 0% 170 32.4% 10 50% probably_damaging(0.953) tolerated(0.08) deleterious(0.697) HMMSmart_SM00454,superfamily_SAM/Pointed domain,HMMPfam_SAM_2 PRSS55 203074 genome.wustl.edu 37 8 10388978 10388978 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198464.2 +1 validated p.P174H 1.000 45 0% 38 36.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases RP1L1 94137 genome.wustl.edu 37 8 10464467 10464467 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178857.5 -1 validated p.L2381I 0.000 101 0% 133 30.1% 0 - unknown(0) deleterious(0.03) - NULL RP1L1 94137 genome.wustl.edu 37 8 10465128 10465128 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178857.5 -1 validated p.E2160D 0.000 478 0% 598 31.3% 0 - unknown(0) tolerated(0.23) - HMMPfam_S-antigen RP1L1 94137 genome.wustl.edu 37 8 10466260 10466260 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178857.5 -1 validated p.A1783V 0.000 258 0% 475 32.6% 0 - unknown(0) tolerated(0.23) - HMMPfam_S-antigen RP1L1 94137 genome.wustl.edu 37 8 10467880 10467880 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178857.5 -1 validated p.T1243I 0.000 123 0% 170 34.1% 0 - possibly_damaging(0.557) deleterious(0) deleterious(0.635) NULL SOX7 83595 genome.wustl.edu 37 8 10583479 10583479 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031439.2 -1 reviewed p.F312 0.843 141 0% 255 37.6% 0 - - - - NULL PINX1 54984 genome.wustl.edu 37 8 10683732 10683732 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017884.4 -1 provisional p.K108N 1.000 258 0% 291 29.2% 18 55.5% probably_damaging(0.975) tolerated(0.2) neutral(0.466) NULL MTMR9 66036 genome.wustl.edu 37 8 11180245 11180245 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015458.3 +1 reviewed p.R533Q 0.991 138 0% 170 34.1% 3 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL BLK 640 genome.wustl.edu 37 8 11406542 11406542 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001715.2 +1 validated p.D93 0.988 157 0% 251 32.7% 0 - - - - HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain BLK 640 genome.wustl.edu 37 8 11418936 11418936 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001715.2 +1 validated p.I385 0.058 109 0% 141 30.5% 1 0% - - - HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) OR7E8P 346708 genome.wustl.edu 37 8 12542009 12542009 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000317826 -1 known p.F226 0.000 403 0% 479 21.7% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 DLC1 10395 genome.wustl.edu 37 8 12946014 12946014 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182643.2 -1 reviewed p.R1425Q 1.000 195 0% 283 31.4% 7 14.2% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_START,HMMSmart_SM00234,superfamily_Bet v1-like C8orf48 157773 genome.wustl.edu 37 8 13424852 13424852 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001007090.2 +1 validated p.E118* 0.363 109 0% 179 36.3% 1 100% - - - NULL MSR1 4481 genome.wustl.edu 37 8 16026303 16026303 + Silent SNP C C T rs184268751 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138715.2 -1 reviewed p.T98 0.000 445 0% 674 32% 1 0% - - - NULL EFHA2 286097 genome.wustl.edu 37 8 16962959 16962959 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_181723.2 +1 validated p.E375* 1.000 188 0% 128 50.8% 0 - - - - superfamily_SSF47473 ZDHHC2 51201 genome.wustl.edu 37 8 17065489 17065489 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016353.4 +1 validated p.Q206H 1.000 308 0% 305 28.9% 22 31.8% benign(0.003) tolerated(0.32) neutral(0.024) NULL ZDHHC2 51201 genome.wustl.edu 37 8 17067519 17067519 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016353.4 +1 validated p.Q270P 1.000 320 0% 305 28.2% 21 28.5% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL MTMR7 9108 genome.wustl.edu 37 8 17163438 17163438 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004686.4 -1 reviewed p.E394* 1.000 143 0% 146 26.7% 0 - - - - HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II MTMR7 9108 genome.wustl.edu 37 8 17230725 17230725 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004686.4 -1 reviewed p.R17* 0.997 175 0% 215 30.2% 0 - - - - superfamily_PH domain-like MTUS1 57509 genome.wustl.edu 37 8 17581259 17581259 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001001924.2 -1 reviewed p.S791R 0.714 212 0% 273 35.9% 6 16.6% possibly_damaging(0.483) deleterious(0.04) deleterious(0.509) NULL MTUS1 57509 genome.wustl.edu 37 8 17613186 17613186 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001001924.2 -1 reviewed p.V44A 0.039 220 0% 358 28.8% 3 100% possibly_damaging(0.585) tolerated(1) neutral(0.202) NULL FGL1 2267 genome.wustl.edu 37 8 17731930 17731930 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004467.3 -1 reviewed p.S115 0.872 236 0% 323 26% 0 - - - - HMMPfam_Fibrinogen_C,HMMSmart_FBG,superfamily_Fibrinogen_a/b/g_C PCM1 5108 genome.wustl.edu 37 8 17796396 17796396 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006197.3 +1 validated p.E164* 1.000 162 0% 250 30.8% 4 25% - - - NULL PCM1 5108 genome.wustl.edu 37 8 17815198 17815198 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006197.3 +1 validated p.D652Y 1.000 191 0% 353 38.8% 12 25% probably_damaging(0.993) deleterious(0) deleterious(0.895) NULL PSD3 23362 genome.wustl.edu 37 8 18490315 18490315 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015310.3 -1 validated p.D740N 1.000 268 0% 160 31.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Sec7 PSD3 23362 genome.wustl.edu 37 8 18662358 18662358 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015310.3 -1 validated p.S562N 1.000 417 0% 421 31.6% 1 0% possibly_damaging(0.946) deleterious(0) deleterious(0.835) HMMPfam_Sec7,HMMSmart_Sec7 PSD3 23362 genome.wustl.edu 37 8 18729950 18729950 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015310.3 -1 validated p.E142* 1.000 130 0% 166 30.7% 0 - - - - NULL SH2D4A 63898 genome.wustl.edu 37 8 19214733 19214733 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022071.3 +1 validated p.R178I 1.000 236 0% 302 32.8% 0 - probably_damaging(0.982) tolerated(0.1) deleterious(0.713) NULL SH2D4A 63898 genome.wustl.edu 37 8 19231123 19231123 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022071.3 +1 validated p.R334* 0.975 75 0% 91 31.9% 0 - - - - superfamily_SSF55550 CSGALNACT1 55790 genome.wustl.edu 37 8 19277981 19277981 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001130518.1 -1 validated p.F334L 0.843 77 0% 135 34.1% 4 25% probably_damaging(0.974) deleterious(0) deleterious(0.861) HMMPfam_CHGN,superfamily_SSF53448 LPL 4023 genome.wustl.edu 37 8 19811636 19811636 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000311322 +1 known p.D183N 1.000 156 0% 216 33.8% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Lipase,superfamily_alpha/beta-Hydrolases LZTS1 11178 genome.wustl.edu 37 8 20110674 20110674 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021020.2 -1 reviewed p.I256 0.998 21 0% 16 31.2% 2 0% - - - NULL LZTS1 11178 genome.wustl.edu 37 8 20110781 20110781 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021020.2 -1 reviewed p.D221Y 1.000 35 0% 61 32.8% 0 - possibly_damaging(0.527) tolerated(0.18) neutral(0.234) NULL EPB49 2039 genome.wustl.edu 37 8 21927730 21927730 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001114135.2 +1 validated p.I163 0.254 156 0% 253 33.6% 6 33.3% - - - NULL FAM160B2 64760 genome.wustl.edu 37 8 21957283 21957283 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022749.5 +1 validated p.A407V 0.313 25 0% 44 36.4% 20 20% benign(0.002) tolerated(0.51) neutral(0.009) HMMPfam_RAI16-like LGI3 203190 genome.wustl.edu 37 8 22009164 22009164 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_139278.2 -1 validated p.F223V 1.000 43 0% 67 37.3% 0 - possibly_damaging(0.9) deleterious(0.01) deleterious(0.762) HMMPfam_EPTP,superfamily_SSF52058 LGI3 203190 genome.wustl.edu 37 8 22009379 22009379 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_139278.2 -1 validated p.D210A 0.995 21 0% 18 22.2% 0 - benign(0.002) tolerated(0.06) neutral(0.323) HMMPfam_LRRCT,HMMSmart_LRRCT,superfamily_SSF52058 PIWIL2 55124 genome.wustl.edu 37 8 22167502 22167502 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001135721.1 +1 validated p.R572I 1.000 159 0% 335 27.5% 0 - benign(0.097) deleterious(0.01) neutral(0.413) NULL SLC39A14 23516 genome.wustl.edu 37 8 22272395 22272395 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001128431.2 +1 validated p.L244I 1.000 127 0% 205 28.8% 9 22.2% benign(0.005) tolerated(0.16) neutral(0.059) HMMPfam_Zip PPP3CC 5533 genome.wustl.edu 37 8 22368688 22368688 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005605.3 +1 provisional p.L192I 1.000 283 0% 527 35.7% 5 20% benign(0.176) tolerated(0.08) neutral(0.316) HMMPfam_Metallophos,HMMSmart_PP2Ac,superfamily_SSF56300 PPP3CC 5533 genome.wustl.edu 37 8 22398195 22398195 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005605.3 +1 provisional p.I473 0.990 109 0% 198 33.3% 21 28.5% - - - superfamily_SSF56300 EGR3 1960 genome.wustl.edu 37 8 22548994 22548994 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004430.2 -1 reviewed p.E52D 1.000 39 5.1% 41 24.4% 1 0% unknown(0) tolerated(1) - NULL RHOBTB2 23221 genome.wustl.edu 37 8 22864390 22864390 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015178.2 +1 validated p.R211H 1.000 63 0% 68 26.5% 3 100% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF52540 TNFRSF10B 8795 genome.wustl.edu 37 8 22886048 22886048 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003842.4 -1 reviewed p.E182* 0.000 130 0% 176 35.2% 19 26.3% - - - superfamily_TNF receptor-like R3HCC1 203069 genome.wustl.edu 37 8 23147718 23147718 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001136108.1 +1 validated p.K9N 0.000 111 0% 257 37.7% 43 48.8% possibly_damaging(0.605) - - NULL LOXL2 4017 genome.wustl.edu 37 8 23167216 23167216 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002318.2 -1 reviewed p.N615 0.307 23 0% 25 20% 33 15.1% - - - HMMPfam_Lysyl_oxidase LOXL2 4017 genome.wustl.edu 37 8 23177458 23177458 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002318.2 -1 reviewed p.I470 0.997 159 0% 262 34.4% 22 13.6% - - - HMMPfam_SRCR,HMMSmart_SR,superfamily_Srcr_receptor STC1 6781 genome.wustl.edu 37 8 23709024 23709024 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003155.2 -1 reviewed p.E94D 1.000 202 0% 252 32.1% 12 33.3% probably_damaging(0.969) tolerated(0.74) neutral(0.413) HMMPfam_Stanniocalcin ADAM28 10863 genome.wustl.edu 37 8 24190190 24190190 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014265.4 +1 reviewed p.C433 1.000 222 0% 183 31.7% 14 7.1% - - - HMMPfam_Disintegrin,HMMSmart_SM00050,superfamily_Blood coagulation inhibitor (disintegrin) ADAM7 8756 genome.wustl.edu 37 8 24339742 24339742 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000380789 +1 known p.E265* 0.558 338 0% 205 22.4% 0 - - - - "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" NEFM 4741 genome.wustl.edu 37 8 24773231 24773231 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005382.2 +1 reviewed p.I398 0.999 107 0% 168 32.1% 0 - - - - HMMPfam_Filament,PatternScan_IF NEFM 4741 genome.wustl.edu 37 8 24774618 24774618 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005382.2 +1 reviewed p.G417E 1.000 96 0% 160 27.5% 0 - unknown(0) deleterious(0.01) - NULL NEFM 4741 genome.wustl.edu 37 8 24775490 24775490 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005382.2 +1 reviewed p.E708* 0.541 205 0% 554 35% 0 - - - - NULL NEFL 4747 genome.wustl.edu 37 8 24811235 24811235 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000221169 -1 known p.S415I 1.000 77 0% 70 27.1% 0 - - - - NULL DOCK5 80005 genome.wustl.edu 37 8 25101217 25101217 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024940.6 +1 validated p.D24G 1.000 174 0% 284 26.8% 0 - possibly_damaging(0.496) tolerated(0.22) neutral(0.208) HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain CDCA2 157313 genome.wustl.edu 37 8 25337619 25337619 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152562.2 +1 validated p.K337N 0.000 153 0% 209 31.6% 7 28.5% possibly_damaging(0.901) deleterious(0) deleterious(0.801) NULL CDCA2 157313 genome.wustl.edu 37 8 25343330 25343330 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152562.2 +1 validated p.S474* 0.852 167 0% 201 23.9% 3 0% - - - NULL CDCA2 157313 genome.wustl.edu 37 8 25364145 25364145 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152562.2 +1 validated p.D655Y 0.000 42 2.4% 42 28.6% 7 28.5% benign(0.163) tolerated(0.09) neutral(0.311) NULL CDCA2 157313 genome.wustl.edu 37 8 25364296 25364296 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152562.2 +1 validated p.K705R 0.000 67 0% 57 22.8% 1 100% benign(0.004) tolerated(0.25) neutral(0.037) NULL EBF2 64641 genome.wustl.edu 37 8 25890654 25890654 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022659.2 -1 validated p.K166N 1.000 268 0% 376 34.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) PatternScan_COE EBF2 64641 genome.wustl.edu 37 8 25902328 25902328 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022659.2 -1 validated p.E16 1.000 160 0% 171 31.6% 0 - - - - NULL DPYSL2 1808 genome.wustl.edu 37 8 26484785 26484785 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001386.4 +1 validated p.A199T 1.000 147 0% 264 33.7% 11 9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Amidohydro_1,superfamily_Composite domain of metallo-dependent hydrolases,superfamily_Metallo-dependent hydrolases ADRA1A 148 genome.wustl.edu 37 8 26721631 26721631 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033303.3 -1 reviewed p.L286 1.000 64 0% 83 36.1% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 PTK2B 2185 genome.wustl.edu 37 8 27277504 27277504 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004103.3 +1 reviewed p.S99 0.281 132 0% 165 36.4% 0 - - - - HMMSmart_SM00295 PTK2B 2185 genome.wustl.edu 37 8 27293815 27293815 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004103.3 +1 reviewed p.L431I 1.000 293 0% 496 31.9% 3 0% possibly_damaging(0.575) tolerated(1) neutral(0.197) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP PTK2B 2185 genome.wustl.edu 37 8 27296578 27296578 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004103.3 +1 reviewed p.A558 0.891 143 0% 277 33.9% 6 0% - - - HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) CHRNA2 1135 genome.wustl.edu 37 8 27321383 27321383 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000742.3 -1 reviewed p.D193N 1.000 163 0% 283 33.6% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like,PatternScan_NEUROTR_ION_CHANNEL CHRNA2 1135 genome.wustl.edu 37 8 27327480 27327480 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000742.3 -1 reviewed p.R31H 0.000 46 0% 44 25% 0 - benign(0) tolerated(0.33) neutral(0.024) NULL EPHX2 2053 genome.wustl.edu 37 8 27401307 27401307 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001979.4 +1 reviewed p.F497 0.000 94 0% 148 27.7% 1 0% - - - HMMPfam_Abhydrolase_1,superfamily_SSF53474 CCDC25 55246 genome.wustl.edu 37 8 27610037 27610037 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018246.2 -1 validated p.S79N 1.000 169 0% 261 25.7% 11 36.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF814 SCARA5 286133 genome.wustl.edu 37 8 27779209 27779209 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173833.4 -1 provisional p.A265 0.530 17 0% 20 25% 0 - - - - NULL C8orf80 389643 genome.wustl.edu 37 8 27927822 27927822 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001010906.1 -1 provisional p.R32Q 0.070 228 0% 274 31% 0 - benign(0.242) deleterious(0.05) neutral(0.370) NULL C8orf80 389643 genome.wustl.edu 37 8 27931916 27931916 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001010906.1 -1 provisional p.T4 0.000 212 0% 287 37.3% 0 - - - - NULL HMBOX1 79618 genome.wustl.edu 37 8 28827636 28827636 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001135726.1 +1 validated p.R34W 1.000 62 0% 113 34.5% 2 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL KIF13B 23303 genome.wustl.edu 37 8 28974356 28974356 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015254.3 -1 validated p.G1277C 0.987 61 0% 57 22.8% 13 23% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL MBOAT4 619373 genome.wustl.edu 37 8 29989648 29989648 + Silent SNP C C T rs148514134 TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001100916.1 -1 validated p.P373 0.000 71 0% 148 29.1% 0 - unknown(0) - - HMMPfam_MBOAT MBOAT4 619373 genome.wustl.edu 37 8 29989722 29989722 + Missense_Mutation SNP C C T rs142555089 TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001100916.1 -1 validated p.V349I 0.703 114 0% 209 42.1% 1 100% benign(0.001) tolerated(0.13) neutral(0.253) HMMPfam_MBOAT MBOAT4 619373 genome.wustl.edu 37 8 29990402 29990402 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001100916.1 -1 validated p.S122Y 0.988 16 6.2% 56 30.4% 0 - possibly_damaging(0.915) deleterious(0) deleterious(0.811) HMMPfam_MBOAT DCTN6 10671 genome.wustl.edu 37 8 30040650 30040650 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006571.2 +1 reviewed p.K178N 1.000 224 0% 388 32.5% 46 26% probably_damaging(0.986) deleterious(0.02) deleterious(0.818) superfamily_Trimeric LpxA-like enzymes TEX15 56154 genome.wustl.edu 37 8 30701930 30701930 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031271.3 -1 validated p.P1535L 0.000 265 0% 306 30.1% 0 - benign(0.001) tolerated(0.3) neutral(0.029) NULL TEX15 56154 genome.wustl.edu 37 8 30702456 30702456 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031271.3 -1 validated p.L1360I 0.000 178 0% 144 34% 0 - possibly_damaging(0.936) tolerated(0.26) neutral(0.415) NULL TEX15 56154 genome.wustl.edu 37 8 30704082 30704082 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031271.3 -1 validated p.L818I 0.000 73 0% 58 25.9% 0 - possibly_damaging(0.666) tolerated(0.23) neutral(0.277) NULL TEX15 56154 genome.wustl.edu 37 8 30706515 30706515 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031271.3 -1 validated p.D7Y 0.000 60 0% 125 24.8% 0 - benign(0.01) deleterious(0.03) neutral(0.365) NULL WRN 7486 genome.wustl.edu 37 8 30938552 30938552 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000553.4 +1 reviewed p.E337* 0.000 114 0% 198 31.8% 1 0% - - - NULL NRG1 3084 genome.wustl.edu 37 8 32505432 32505432 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013959.3 +1 reviewed p.R66C 1.000 113 0% 118 28.8% 0 - possibly_damaging(0.886) deleterious(0) deleterious(0.791) NULL NRG1 3084 genome.wustl.edu 37 8 32621456 32621456 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013956.3 +1 reviewed p.R492W 1.000 119 0.8% 137 26.3% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Neuregulin TTI2 80185 genome.wustl.edu 37 8 33369624 33369624 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001102401.1 -1 validated p.E170K 0.000 99 0% 185 39.5% 20 40% benign(0) tolerated(0.8) neutral(0.001) HMMPfam_DUF2454 KCNU1 157855 genome.wustl.edu 37 8 36666273 36666273 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001031836.2 +1 validated p.L232I 0.926 320 0% 298 37.2% 0 - benign(0.004) tolerated(1) - HMMPfam_Ion_trans,superfamily_SSF81324 KCNU1 157855 genome.wustl.edu 37 8 36671735 36671735 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001031836.2 +1 validated p.S248F 1.000 140 0% 156 28.8% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_Ion_trans,superfamily_SSF81324 KCNU1 157855 genome.wustl.edu 37 8 36768513 36768513 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001031836.2 +1 validated p.V799 0.388 163 0% 160 31.9% 0 - - - - NULL ERLIN2 11160 genome.wustl.edu 37 8 37599316 37599316 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007175.6 +1 validated p.K72N 1.000 133 0% 247 26.7% 11 9% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_Band_7,HMMSmart_SM00244 RAB11FIP1 80223 genome.wustl.edu 37 8 37734659 37734659 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001002814.2 -1 validated p.D261G 0.000 117 0% 319 34.8% 4 75% benign(0.402) tolerated(0.38) neutral(0.147) NULL GOT1L1 137362 genome.wustl.edu 37 8 37793310 37793310 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152413.2 -1 validated p.L281V 0.000 53 0% 71 26.8% 0 - benign(0.059) tolerated(0.13) neutral(0.257) HMMPfam_Aminotran_1_2,superfamily_PLP-dependent transferases ASH2L 9070 genome.wustl.edu 37 8 37985892 37985892 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004674.3 +1 validated p.R417W 0.997 109 0% 269 35.3% 22 13.6% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL STAR 6770 genome.wustl.edu 37 8 38008293 38008293 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000349.2 -1 reviewed p.R15I 1.000 82 0% 152 28.9% 1 100% possibly_damaging(0.903) deleterious(0.03) deleterious(0.722) NULL DDHD2 23259 genome.wustl.edu 37 8 38099773 38099773 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015214.2 +1 validated p.D240Y 1.000 110 0% 250 24% 9 33.3% possibly_damaging(0.903) deleterious(0.04) deleterious(0.707) NULL C8orf86 389649 genome.wustl.edu 37 8 38373948 38373948 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_207412.1 -1 predicted p.S133Y 0.000 161 0% 299 29.8% 0 - unknown(0) - - NULL TM2D2 83877 genome.wustl.edu 37 8 38852992 38852992 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001024380.1 -1 validated p.T11A 0.000 235 0% 417 34.8% 17 52.9% unknown(0) - - NULL ADAM32 203102 genome.wustl.edu 37 8 39089620 39089620 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145004.5 +1 validated p.D534N 0.000 305 0% 266 33.8% 0 - possibly_damaging(0.701) tolerated(0.08) deleterious(0.552) HMMPfam_ADAM_CR,HMMSmart_SM00608 ADAM32 203102 genome.wustl.edu 37 8 39111964 39111964 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145004.5 +1 validated p.S645L 0.000 135 0% 87 28.7% 1 0% benign(0.044) tolerated(0.17) neutral(0.061) PatternScan_EGF_2,HMMPfam_EGF_2 ADAM18 8749 genome.wustl.edu 37 8 39467034 39467034 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014237.1 +1 reviewed p.E100K 0.017 260 0% 249 30.5% 0 - probably_damaging(0.957) tolerated(0.13) deleterious(0.653) HMMPfam_Pep_M12B_propep ADAM18 8749 genome.wustl.edu 37 8 39495060 39495060 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014237.1 +1 reviewed p.F222C 0.966 213 0% 147 27.9% 0 - benign(0.226) deleterious(0) neutral(0.467) "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" ADAM2 2515 genome.wustl.edu 37 8 39645641 39645641 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001464.3 -1 reviewed p.L258I 1.000 206 0% 171 32.7% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" ANK1 286 genome.wustl.edu 37 8 41553945 41553945 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142446.1 -1 reviewed p.A1007T 1.000 32 0% 40 25% 0 - benign(0.143) tolerated(0.12) neutral(0.273) HMMPfam_ZU5,HMMSmart_ZU5 ANK1 286 genome.wustl.edu 37 8 41577373 41577373 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142446.1 -1 reviewed p.G338S 1.000 190 0% 268 31% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK KAT6A 7994 genome.wustl.edu 37 8 41790387 41790387 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001099412.1 -1 validated p.V1784A 1.000 309 0% 581 32.7% 16 37.5% possibly_damaging(0.806) tolerated(0.88) neutral(0.303) NULL KAT6A 7994 genome.wustl.edu 37 8 41792352 41792352 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001099412.1 -1 validated p.R1129Q 0.981 120 0% 138 35.5% 9 33.3% unknown(0) deleterious(0.03) - NULL KAT6A 7994 genome.wustl.edu 37 8 41834706 41834706 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001099412.1 -1 validated p.D395Y 1.000 217 0% 299 34.8% 2 0% unknown(0) deleterious(0.01) - NULL IKBKB 3551 genome.wustl.edu 37 8 42162728 42162728 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001556.1 +1 validated p.E138* 1.000 171 0% 344 34.9% 7 28.5% - - - superfamily_Kinase_like,HMMPfam_Pkinase IKBKB 3551 genome.wustl.edu 37 8 42178258 42178258 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000416505 +1 known p.R508* 0.526 55 0% 93 34.4% 13 30.7% - - - NULL IKBKB 3551 genome.wustl.edu 37 8 42179581 42179581 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001556.1 +1 validated p.T583N 0.108 195 0% 354 37.9% 19 26.3% unknown(0) - - NULL SLC20A2 6575 genome.wustl.edu 37 8 42295059 42295059 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006749.3 -1 provisional p.S324L 0.998 81 0% 133 29.3% 13 23% benign(0.001) tolerated(0.45) neutral(0.012) HMMPfam_PHO4 POTEA 340441 genome.wustl.edu 37 8 43159841 43159841 + Splice_Site SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005365.2 +1 validated e6-1 0.008 120 0% 62 24.2% 0 - - - - - ENSG00000215179 0 genome.wustl.edu 37 8 47885252 47885252 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000399732 -1 known p.D327Y 1.000 169 0% 269 20.8% 0 - - - - superfamily_Protein kinase-like (PK-like) LOC100287980 100287980 genome.wustl.edu 37 8 48001266 48001266 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002342844.1 -1 model p.D218A 0.001 18 0% 18 44.4% 0 - - - - NULL PRKDC 5591 genome.wustl.edu 37 8 48790402 48790402 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000314191 -1 known p.A1748E 0.998 70 0% 102 36.3% 0 - probably_damaging(0.998) deleterious(0.04) deleterious(0.823) superfamily_ARM repeat PRKDC 5591 genome.wustl.edu 37 8 48827897 48827897 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000314191 -1 known p.L870I 0.982 211 0% 200 34.5% 0 - possibly_damaging(0.573) deleterious(0.03) deleterious(0.561) NULL PRKDC 5591 genome.wustl.edu 37 8 48843348 48843348 + Splice_Site SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000314191 -1 known e17-1 1.000 94 0% 150 32% 1 100% - - - - PRKDC 5591 genome.wustl.edu 37 8 48869957 48869957 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000314191 -1 known p.F63 0.146 188 0% 271 31% 1 100% - - - superfamily_ARM repeat MCM4 4173 genome.wustl.edu 37 8 48878806 48878806 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005914.2 +1 reviewed p.E298K 1.000 48 0% 66 31.8% 41 58.5% possibly_damaging(0.947) deleterious(0.01) deleterious(0.796) HMMSmart_MCM,superfamily_Nucleic_acid_OB MCM4 4173 genome.wustl.edu 37 8 48883364 48883364 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005914.2 +1 reviewed p.F576 0.987 41 0% 64 34.4% 53 41.5% - - - HMMPfam_MCM,HMMSmart_MCM,HMMSmart_AAA,PatternScan_MCM_1,superfamily_SSF52540 UBE2V2 7336 genome.wustl.edu 37 8 48973338 48973338 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003350.2 +1 reviewed p.E130* 1.000 135 0% 221 32.6% 31 48.3% - - - HMMSmart_SM00212,superfamily_UBC-like SNAI2 6591 genome.wustl.edu 37 8 49831491 49831491 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003068.3 -1 reviewed p.L228M 1.000 190 0% 254 33.1% 6 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SNAI2 6591 genome.wustl.edu 37 8 49832958 49832958 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003068.3 -1 reviewed p.V41A 1.000 103 0% 184 28.8% 5 0% benign(0) tolerated(1) - NULL SNAI2 6591 genome.wustl.edu 37 8 49833801 49833801 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003068.3 -1 reviewed p.K8N 1.000 285 0% 377 36.3% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL C8orf22 492307 genome.wustl.edu 37 8 49985442 49985442 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001007176.3 +1 validated p.R18Q 0.999 231 0% 307 29.6% 0 - probably_damaging(0.986) deleterious(0) deleterious(0.879) NULL C8orf22 492307 genome.wustl.edu 37 8 49986691 49986691 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001007176.3 +1 validated p.Q43H 0.029 257 0% 260 24.2% 0 - probably_damaging(0.956) tolerated(0.37) neutral(0.419) NULL PXDNL 137902 genome.wustl.edu 37 8 52320650 52320650 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144651.4 -1 validated p.S1178 0.050 199 0% 153 32.7% 0 - - - - HMMPfam_An_peroxidase,superfamily_Heme-dependent peroxidases RB1CC1 9821 genome.wustl.edu 37 8 53558288 53558288 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014781.4 -1 reviewed p.R1321* 0.991 124 0% 122 28.7% 17 0% - - - NULL RB1CC1 9821 genome.wustl.edu 37 8 53568773 53568773 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014781.4 -1 reviewed p.E1206K 0.968 405 0% 374 33.2% 11 9% benign(0) tolerated(0.71) neutral(0.002) NULL RB1CC1 9821 genome.wustl.edu 37 8 53569953 53569953 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014781.4 -1 reviewed p.I812M 0.983 189 0% 202 35.6% 5 40% benign(0.167) deleterious(0.01) neutral(0.421) NULL RB1CC1 9821 genome.wustl.edu 37 8 53570450 53570450 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014781.4 -1 reviewed p.S647P 0.998 141 0% 148 27% 7 0% probably_damaging(0.974) deleterious(0.05) deleterious(0.761) NULL ATP6V1H 51606 genome.wustl.edu 37 8 54656139 54656139 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015941.2 -1 reviewed p.N463 1.000 62 0% 55 45.5% 138 44.2% - - - superfamily_ARM repeat RP1 6101 genome.wustl.edu 37 8 55533636 55533636 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006269.1 +1 reviewed p.R37Q 1.000 216 0% 351 35.9% 0 - probably_damaging(0.973) deleterious(0.01) deleterious(0.821) HMMSmart_DCX,superfamily_SSF89837 RP1 6101 genome.wustl.edu 37 8 55537376 55537376 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006269.1 +1 reviewed p.I312V 0.696 118 0% 138 34.8% 0 - benign(0.393) tolerated(0.38) neutral(0.144) NULL RP1 6101 genome.wustl.edu 37 8 55538093 55538093 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006269.1 +1 reviewed p.E551* 1.000 143 0% 220 29.5% 0 - - - - NULL RP1 6101 genome.wustl.edu 37 8 55538364 55538364 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006269.1 +1 reviewed p.R641I 0.057 37 0% 58 44.8% 0 - probably_damaging(0.959) deleterious(0) deleterious(0.847) NULL RP1 6101 genome.wustl.edu 37 8 55540655 55540655 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006269.1 +1 reviewed p.E1405* 0.007 82 0% 93 21.5% 0 - - - - NULL RP1 6101 genome.wustl.edu 37 8 55542453 55542453 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006269.1 +1 reviewed p.R2004I 0.704 107 0% 115 32.2% 1 100% probably_damaging(0.981) deleterious(0) deleterious(0.870) NULL XKR4 114786 genome.wustl.edu 37 8 56436607 56436607 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_052898.1 +1 provisional p.E592* 1.000 155 0.6% 212 32.1% 0 - - - - NULL TMEM68 137695 genome.wustl.edu 37 8 56668946 56668946 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152417.1 -1 provisional p.K117T 1.000 139 0% 162 34% 3 33.3% benign(0.052) deleterious(0.01) neutral(0.409) HMMPfam_Acyltransferase LYN 4067 genome.wustl.edu 37 8 56922615 56922615 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002350.2 +1 validated p.S495 0.504 52 0% 95 34.7% 4 0% - - - HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) RPS20 6224 genome.wustl.edu 37 8 56982386 56982386 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000427539 -1 known p.E114K 0.001 79 0% 131 36.6% 4 75% possibly_damaging(0.65) tolerated(0.06) deleterious(0.550) superfamily_Ribosomal_S10 RPS20 6224 genome.wustl.edu 37 8 56985812 56985812 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001023.3 -1 reviewed p.R66I 0.998 133 0% 306 32.7% 5898 42.2% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Ribosomal_S10,superfamily_Ribosomal protein S10 PLAG1 5324 genome.wustl.edu 37 8 57079778 57079778 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001114634.1 -1 reviewed p.S176L 0.999 120 0% 103 38.8% 0 - probably_damaging(0.978) deleterious(0.04) deleterious(0.769) NULL SDR16C5 195814 genome.wustl.edu 37 8 57219352 57219352 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138969.2 -1 validated p.F198S 0.002 162 0% 177 35% 3 66.6% benign(0.01) deleterious(0) neutral(0.445) HMMPfam_adh_short,superfamily_NAD(P)-binding Rossmann-fold domains SDR16C5 195814 genome.wustl.edu 37 8 57228857 57228857 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138969.2 -1 validated p.K17R 0.016 79 0% 139 33.1% 2 50% benign(0.004) tolerated(0.35) neutral(0.021) NULL SDR16C6P 442388 genome.wustl.edu 37 8 57285688 57285688 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000444271 -1 known p.S304Y 0.000 206 0% 291 34% 0 - - - - NULL UBXN2B 137886 genome.wustl.edu 37 8 59352299 59352299 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001077619.1 +1 validated p.A214V 1.000 178 0% 267 33.7% 4 0% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_SEP,HMMSmart_SEP CYP7A1 1581 genome.wustl.edu 37 8 59404924 59404924 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000780.3 -1 reviewed p.Y401 1.000 159 0% 247 30.4% 0 - - - - HMMPfam_p450,superfamily_Cytochrome_P450 CYP7A1 1581 genome.wustl.edu 37 8 59409435 59409435 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000780.3 -1 reviewed p.F212 0.999 218 0% 262 32.1% 0 - - - - HMMPfam_p450,superfamily_Cytochrome_P450 SDCBP 6386 genome.wustl.edu 37 8 59490753 59490753 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001007067.1 +1 reviewed p.M188I 1.000 126 0% 147 28.6% 104 36.5% benign(0.011) tolerated(0.2) neutral(0.050) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like NSMAF 8439 genome.wustl.edu 37 8 59522267 59522267 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001144772.1 -1 reviewed p.H226Y 1.000 157 0% 208 31.7% 3 33.3% benign(0.01) tolerated(1) neutral(0.001) HMMPfam_GRAM,HMMSmart_SM00568,superfamily_PH domain-like TOX 9760 genome.wustl.edu 37 8 59750747 59750747 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014729.2 -1 reviewed p.R273C 1.000 168 0% 187 34.8% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HMG_box,HMMSmart_HMG,superfamily_HMG-box CHD7 55636 genome.wustl.edu 37 8 61654249 61654249 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017780.2 +1 reviewed p.P86 0.665 111 0% 162 28.4% 2 0% - - - NULL CHD7 55636 genome.wustl.edu 37 8 61720811 61720811 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017780.2 +1 reviewed p.F826L 1.000 263 0% 215 30.7% 0 - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMPfam_Chromo,HMMSmart_SM00298,superfamily_Chromo domain-like CHD7 55636 genome.wustl.edu 37 8 61741318 61741318 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017780.2 +1 reviewed p.E1159* 1.000 155 0% 168 18.5% 3 33.3% - - - HMMPfam_SNF2_N,HMMSmart_SM00487 CHD7 55636 genome.wustl.edu 37 8 61773574 61773574 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017780.2 +1 reviewed p.L2574I 0.998 145 0% 251 36.7% 16 50% benign(0.243) deleterious(0.05) neutral(0.370) HMMPfam_BRK,HMMSmart_SM00592 ENSG00000237810 0 genome.wustl.edu 37 8 63057145 63057145 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000433538 -1 known p.F30 1.000 38 0% 45 31.1% 0 - - - - HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase NKAIN3 286183 genome.wustl.edu 37 8 63659606 63659606 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173688.2 +1 provisional p.Y130C 1.000 212 0% 227 29.5% 0 - possibly_damaging(0.938) tolerated(0.16) neutral(0.443) HMMPfam_NKAIN GGH 8836 genome.wustl.edu 37 8 63927957 63927957 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003878.2 -1 reviewed p.I297M 1.000 258 0% 250 28.8% 126 57.1% probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_SSF52317 GGH 8836 genome.wustl.edu 37 8 63930182 63930182 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003878.2 -1 reviewed p.K235 0.017 149 0% 135 35.6% 137 39.4% - - - HMMPfam_Peptidase_C26,superfamily_SSF52317 CYP7B1 9420 genome.wustl.edu 37 8 65517257 65517257 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004820.3 -1 reviewed p.E405D 0.728 194 0% 246 28.5% 0 - probably_damaging(0.965) deleterious(0.02) deleterious(0.790) HMMPfam_p450,superfamily_Cytochrome P450 ADHFE1 137872 genome.wustl.edu 37 8 67361109 67361109 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144650.2 +1 validated p.S213L 0.996 160 0% 219 34.2% 0 - benign(0.038) tolerated(0.11) neutral(0.274) HMMPfam_Fe-ADH,superfamily_Dehydroquinate synthase-like MYBL1 4603 genome.wustl.edu 37 8 67507910 67507910 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080416.2 -1 validated p.K199Q 1.000 271 0% 381 29.4% 1 100% probably_damaging(0.983) deleterious(0.01) deleterious(0.835) NULL MYBL1 4603 genome.wustl.edu 37 8 67511363 67511363 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080416.2 -1 validated p.F71 1.000 120 0% 130 31.5% 1 100% - - - HMMSmart_SANT,superfamily_Homeodomain_like,HMMPfam_Myb_DNA-binding C8orf44 56260 genome.wustl.edu 37 8 67591967 67591967 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019607.1 +1 provisional p.L86F 0.217 134 0% 270 33.7% 2 50% unknown(0) - - NULL COPS5 10987 genome.wustl.edu 37 8 67971643 67971643 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006837.2 -1 reviewed p.A61T 1.000 139 0% 227 37% 84 40.4% possibly_damaging(0.565) deleterious(0.01) deleterious(0.599) HMMPfam_Mov34,HMMSmart_JAB_MPN,superfamily_SSF102712 CSPP1 79848 genome.wustl.edu 37 8 68070810 68070810 + Missense_Mutation SNP G G T rs190028385 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001077204.1 +1 validated p.K820N 1.000 76 0% 219 29.7% 9 77.7% possibly_damaging(0.566) tolerated(0.17) neutral(0.253) NULL ARFGEF1 10565 genome.wustl.edu 37 8 68165758 68165758 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006421.3 -1 reviewed p.E876* 1.000 553 0% 654 29.7% 3 0% - - - HMMPfam_Sec7,HMMSmart_Sec7,superfamily_Sec7,superfamily_ARM-type_fold CPA6 57094 genome.wustl.edu 37 8 68396961 68396961 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020361.4 -1 validated p.I234V 1.000 210 0% 322 39.4% 0 - benign(0.001) tolerated(0.59) neutral(0.004) HMMPfam_Peptidase_M14,HMMSmart_SM00631,superfamily_Zn-dependent exopeptidases PREX2 80243 genome.wustl.edu 37 8 68981343 68981343 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024870.2 +1 validated p.R472I 1.000 145 0% 242 31.8% 4 75% probably_damaging(0.999) deleterious(0) deleterious(0.935) "superfamily_""Winged helix"" DNA-binding domain" PREX2 80243 genome.wustl.edu 37 8 68992692 68992692 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024870.2 +1 validated p.E553K 1.000 186 0% 191 69.1% 0 - possibly_damaging(0.934) deleterious(0.05) deleterious(0.726) "HMMPfam_DEP,HMMSmart_SM00049,superfamily_""Winged helix"" DNA-binding domain" SULF1 23213 genome.wustl.edu 37 8 70536227 70536227 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001128204.1 +1 validated p.E549K 1.000 72 0% 122 74.6% 59 0% possibly_damaging(0.659) deleterious(0.02) deleterious(0.616) superfamily_Alkaline_phosphatase_core LOC100288066 100288066 genome.wustl.edu 37 8 70585015 70585015 + Missense_Mutation SNP A A T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002342855.1 +1 model p.K48I 0.996 30 0% 17 23.5% 3 100% - - - NULL SLCO5A1 81796 genome.wustl.edu 37 8 70585342 70585342 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030958.2 -1 reviewed p.R770Q 0.971 131 0% 165 30.9% 1 100% benign(0.001) tolerated(0.34) neutral(0.023) superfamily_MFS_gen_substrate_transporter SLCO5A1 81796 genome.wustl.edu 37 8 70667688 70667688 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030958.2 -1 reviewed p.S410Y 1.000 296 0% 404 29.7% 1 0% probably_damaging(0.972) deleterious(0.04) deleterious(0.763) HMMPfam_OATP,superfamily_MFS_gen_substrate_transporter SLCO5A1 81796 genome.wustl.edu 37 8 70744067 70744067 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030958.2 -1 reviewed p.I281S 1.000 117 0% 234 34.6% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_OATP,superfamily_MFS_gen_substrate_transporter ENSG00000213003 0 genome.wustl.edu 37 8 71185729 71185729 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000391685 +1 known p.R41C 1.000 24 0% 37 21.6% 0 - - - - HMMPfam_NAC XKR9 389668 genome.wustl.edu 37 8 71593384 71593384 + Silent SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001011720.1 +1 provisional p.R31 0.024 310 0% 396 30.8% 0 - - - - HMMPfam_XK-related EYA1 2138 genome.wustl.edu 37 8 72127625 72127625 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000503.4 -1 reviewed p.I532L 1.000 134 0.7% 94 19.1% 0 - benign(0.419) deleterious(0.01) deleterious(0.542) HMMPfam_Hydrolase MSC 9242 genome.wustl.edu 37 8 72754929 72754929 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005098.3 -1 reviewed p.S196 0.168 193 0% 275 34.2% 19 0% - - - NULL TRPA1 8989 genome.wustl.edu 37 8 72948539 72948539 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007332.2 -1 reviewed p.L847V 0.797 107 0% 76 38.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans ENSG00000235531 0 genome.wustl.edu 37 8 72966215 72966215 + RNA SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000457356 +1 known NULL 0.000 22 0% 24 33.3% 2 0% - - - - LOC392232 392232 genome.wustl.edu 37 8 73137539 73137539 + RNA SNP G G A rs188563849 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XR_037363.2 -1 model NULL 0.935 79 0% 39 41% 0 - - - - - LOC392232 392232 genome.wustl.edu 37 8 73150371 73150371 + RNA SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XR_037363.2 -1 model NULL 0.998 148 0% 177 24.3% 0 - - - - - KCNB2 9312 genome.wustl.edu 37 8 73849015 73849015 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004770.2 +1 reviewed p.S475 0.000 58 0% 53 28.3% 0 - - - - HMMPfam_Kv2channel TERF1 7013 genome.wustl.edu 37 8 73937114 73937114 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017489.2 +1 reviewed p.F228V 0.989 253 0% 382 39.5% 10 30% probably_damaging(0.998) tolerated(0.07) deleterious(0.793) HMMPfam_TRF,superfamily_Telomeric repeat binding factor (TRF) dimerisation domain RPL7 6129 genome.wustl.edu 37 8 74205017 74205017 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000971.3 -1 reviewed p.E10 0.996 98 0% 127 37% 944 44.7% - - - NULL UBE2W 55284 genome.wustl.edu 37 8 74742625 74742625 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001001481.1 -1 validated p.S44* 1.000 132 0% 174 27% 9 33.3% - - - HMMPfam_UQ_con,HMMSmart_SM00212,superfamily_UBC-like LOC100287016 100287016 genome.wustl.edu 37 8 74897004 74897004 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002342849.1 +1 model p.E93* 1.000 69 0% 161 31.1% 0 - - - - HMMPfam_Cofilin_ADF,superfamily_Actin depolymerizing proteins JPH1 56704 genome.wustl.edu 37 8 75171630 75171630 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020647.2 -1 reviewed p.F416L 1.000 52 0% 41 19.5% 0 - possibly_damaging(0.906) tolerated(0.1) deleterious(0.646) NULL JPH1 56704 genome.wustl.edu 37 8 75227385 75227385 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020647.2 -1 reviewed p.E284K 1.000 164 0% 220 31.4% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MORN,HMMSmart_SM00698,superfamily_Histone H3 K4-specific methyltransferase SET7/9 N-terminal domain PI15 51050 genome.wustl.edu 37 8 75761361 75761361 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015886.3 +1 reviewed p.W217* 1.000 291 0% 313 31.6% 0 - - - - HMMSmart_SCP,superfamily_SCP-like_extracellular,PatternScan_CRISP_2 ZFHX4 79776 genome.wustl.edu 37 8 77617508 77617508 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024721.4 +1 validated p.P395 1.000 138 0% 140 37.9% 0 - - - - NULL ZFHX4 79776 genome.wustl.edu 37 8 77763411 77763411 + Nonsense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024721.4 +1 validated p.Y1373* 1.000 91 0% 107 19.6% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZFHX4 79776 genome.wustl.edu 37 8 77764227 77764227 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024721.4 +1 validated p.S1645 1.000 285 0% 401 35.4% 0 - - - - NULL ZFHX4 79776 genome.wustl.edu 37 8 77765537 77765537 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024721.4 +1 validated p.S2082Y 0.998 133 0% 168 28.6% 0 - probably_damaging(0.959) - - superfamily_Homeodomain-like ZFHX4 79776 genome.wustl.edu 37 8 77768353 77768353 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024721.4 +1 validated p.R3021C 1.000 55 0% 70 34.3% 1 0% probably_damaging(1) - - NULL ZFHX4 79776 genome.wustl.edu 37 8 77776551 77776551 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024721.4 +1 validated p.S3489Y 1.000 288 0% 226 35.4% 1 100% probably_damaging(0.996) - - NULL ZBTB10 65986 genome.wustl.edu 37 8 81411875 81411875 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001105539.1 +1 validated p.K373N 1.000 112 0% 122 35.2% 2 50% probably_damaging(0.993) deleterious(0.02) deleterious(0.833) HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB PAG1 55824 genome.wustl.edu 37 8 81897467 81897467 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018440.3 -1 reviewed p.S140 0.000 96 0% 133 34.6% 0 - - - - NULL FABP5 2171 genome.wustl.edu 37 8 82196118 82196118 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001444.1 +1 reviewed p.N88S 0.001 539 0% 695 36% 154 33.7% benign(0) tolerated(0.15) neutral(0.241) HMMPfam_Lipocalin,superfamily_Lipocalins IMPA1 3612 genome.wustl.edu 37 8 82583270 82583270 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001144878.1 -1 reviewed p.S216Y 0.932 94 0% 131 34.4% 3 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Inositol_P,superfamily_Carbohydrate phosphatase ZFAND1 79752 genome.wustl.edu 37 8 82627048 82627048 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024699.2 -1 validated p.D117Y 1.000 170 0% 214 30.8% 22 45.4% benign(0.003) deleterious(0.02) neutral(0.383) NULL LRRCC1 85444 genome.wustl.edu 37 8 86021837 86021837 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033402.4 +1 validated p.E38K 1.000 110 0% 106 28.3% 0 - benign(0.119) tolerated(0.09) neutral(0.306) superfamily_Outer arm dynein light chain 1 CA13 377677 genome.wustl.edu 37 8 86163043 86163043 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198584.2 +1 validated p.E38* 1.000 106 0% 194 29.4% 0 - - - - HMMPfam_Carb_anhydrase,superfamily_Euk_COanhd CA13 377677 genome.wustl.edu 37 8 86193471 86193471 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198584.2 +1 validated p.R228C 1.000 92 0% 98 30.6% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Carb_anhydrase,superfamily_Euk_COanhd CA1 759 genome.wustl.edu 37 8 86250505 86250505 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001128829.2 -1 reviewed p.F71V 0.950 466 0.2% 491 32.2% 0 - benign(0.325) tolerated(0.28) neutral(0.133) HMMPfam_Carb_anhydrase,superfamily_Euk_COanhd ENSG00000237029 0 genome.wustl.edu 37 8 86556125 86556125 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000456858 -1 known p.R192Q 0.011 74 0% 150 9.3% 0 - - - - NULL PSKH2 85481 genome.wustl.edu 37 8 87060713 87060713 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033126.1 -1 provisional p.S379L 0.724 64 0% 77 37.7% 0 - possibly_damaging(0.706) deleterious(0.02) deleterious(0.637) NULL ATP6V0D2 245972 genome.wustl.edu 37 8 87151852 87151852 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152565.1 +1 validated p.E157K 1.000 142 0% 156 26.3% 1 0% possibly_damaging(0.477) deleterious(0) deleterious(0.602) HMMPfam_vATP-synt_AC39,superfamily_ATPase_V0/A0_c/d ATP6V0D2 245972 genome.wustl.edu 37 8 87165172 87165172 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152565.1 +1 validated p.R340Q 1.000 246 0.4% 309 28.8% 0 - probably_damaging(0.975) deleterious(0.01) deleterious(0.823) HMMPfam_vATP-synt_AC39,superfamily_ATPase_V0/A0_c/d SLC7A13 157724 genome.wustl.edu 37 8 87226839 87226839 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138817.2 -1 validated p.D406N 0.000 87 0% 82 30.5% 0 - benign(0.001) deleterious(0.01) neutral(0.406) NULL WWP1 11059 genome.wustl.edu 37 8 87393047 87393047 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007013.3 +1 validated p.K55Q 1.000 144 0% 278 29.9% 8 62.5% probably_damaging(0.956) tolerated(0.13) deleterious(0.652) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) FAM82B 51115 genome.wustl.edu 37 8 87487150 87487150 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016033.2 -1 validated p.L265I 0.997 319 0% 466 32.8% 34 44.1% benign(0.042) tolerated(0.08) neutral(0.302) superfamily_Prenyl_trans CPNE3 8895 genome.wustl.edu 37 8 87549795 87549795 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003909.3 +1 reviewed p.L155R 0.999 153 0% 248 35.5% 8 62.5% possibly_damaging(0.816) deleterious(0) deleterious(0.753) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB CPNE3 8895 genome.wustl.edu 37 8 87558846 87558846 + Missense_Mutation SNP G G T rs41333046 byCluster;byFrequency;by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003909.3 +1 reviewed p.E252D 0.980 218 0% 298 27.9% 9 44.4% benign(0.122) deleterious(0.02) neutral(0.393) superfamily_C2_CaLB CNGB3 54714 genome.wustl.edu 37 8 87588127 87588127 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019098.4 -1 reviewed p.T779A 0.003 336 0% 476 32.6% 0 - possibly_damaging(0.775) tolerated(0.45) neutral(0.300) NULL CNGB3 54714 genome.wustl.edu 37 8 87645051 87645051 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019098.4 -1 reviewed p.L417V 0.018 112 0% 98 10.2% 0 - benign(0.001) tolerated(0.3) neutral(0.029) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CNBD1 168975 genome.wustl.edu 37 8 87917398 87917398 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173538.2 +1 provisional p.K83T 0.124 217 0% 173 27.7% 0 - benign(0.02) tolerated(0.2) neutral(0.050) NULL CNBD1 168975 genome.wustl.edu 37 8 88249334 88249334 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173538.2 +1 provisional p.D255E 0.000 132 0% 89 32.6% 0 - possibly_damaging(0.842) tolerated(1) neutral(0.322) superfamily_cNMP_binding DCAF4L2 138009 genome.wustl.edu 37 8 88885184 88885184 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152418.3 -1 validated p.R339I 0.289 196 0% 135 29.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_WD40,superfamily_WD40_like DCAF4L2 138009 genome.wustl.edu 37 8 88885505 88885505 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152418.3 -1 validated p.F232S 0.097 256 0% 323 32.8% 0 - probably_damaging(0.996) deleterious(0.02) deleterious(0.845) superfamily_WD40_like MMP16 4325 genome.wustl.edu 37 8 89081712 89081712 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022564.3 -1 reviewed p.L421F 0.001 268 0.4% 208 27.9% 0 - - - - NULL MMP16 4325 genome.wustl.edu 37 8 89131040 89131040 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005941.4 -1 reviewed p.L254V 0.211 234 0% 174 35.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) "HMMPfam_Peptidase_M10,HMMSmart_SM00235,superfamily_Metalloproteases (""zincins"") catalytic domain" RIPK2 8767 genome.wustl.edu 37 8 90802519 90802519 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003821.5 +1 reviewed p.E500* 1.000 113 0% 142 38% 55 34.5% - - - HMMPfam_CARD,superfamily_DEATH domain NBN 4683 genome.wustl.edu 37 8 90958385 90958385 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002485.4 -1 reviewed p.F685V 1.000 288 0% 297 40.1% 18 27.7% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_Nbs1_C NBN 4683 genome.wustl.edu 37 8 90994993 90994993 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002485.4 -1 reviewed p.R43Q 1.000 114 0% 180 35.6% 6 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_FHA,HMMSmart_SM00240,superfamily_SMAD/FHA domain TMEM64 169200 genome.wustl.edu 37 8 91643785 91643785 + Missense_Mutation SNP A A T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001008495.3 -1 validated p.L316I 1.000 78 0% 82 37.8% 11 45.4% possibly_damaging(0.495) tolerated(0.31) neutral(0.192) NULL TMEM64 169200 genome.wustl.edu 37 8 91657344 91657344 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001008495.3 -1 validated p.F264L 1.000 28 0% 54 37% 16 62.5% probably_damaging(0.996) tolerated(0.16) deleterious(0.521) HMMPfam_SNARE_assoc NECAB1 64168 genome.wustl.edu 37 8 91937858 91937858 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022351.4 +1 validated p.S197N 1.000 160 0% 191 25.1% 0 - benign(0) tolerated(0.47) neutral(0.011) NULL LRRC69 100130742 genome.wustl.edu 37 8 92145396 92145396 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001129890.1 +1 provisional p.E148* 0.990 80 0% 71 25.4% 0 - - - - HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00364,superfamily_L domain-like SLC26A7 115111 genome.wustl.edu 37 8 92261899 92261899 + Missense_Mutation SNP A A T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_134266.1 +1 reviewed p.K7I 1.000 104 0% 114 27.2% 0 - possibly_damaging(0.806) deleterious(0) deleterious(0.748) NULL RUNX1T1 862 genome.wustl.edu 37 8 93003954 93003954 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_175634.1 -1 reviewed p.L302V 1.000 360 0% 449 31.6% 0 - probably_damaging(0.999) deleterious(0.05) deleterious(0.836) NULL RUNX1T1 862 genome.wustl.edu 37 8 93023320 93023320 + Splice_Site SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_175634.1 -1 reviewed e4-1 1.000 148 0% 170 34.1% 0 - - - - - RBM12B 389677 genome.wustl.edu 37 8 94747056 94747056 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_203390.2 -1 validated p.R528I 0.080 125 0% 184 33.7% 12 66.6% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL TMEM67 91147 genome.wustl.edu 37 8 94815888 94815888 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153704.5 +1 reviewed p.F766 0.889 359 0% 573 31.2% 5 20% - - - HMMPfam_Meckelin CDH17 1015 genome.wustl.edu 37 8 95172237 95172237 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001144663.1 -1 reviewed p.D505N 1.000 276 0% 301 28.9% 0 - possibly_damaging(0.817) tolerated(0.21) neutral(0.353) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like CDH17 1015 genome.wustl.edu 37 8 95182638 95182638 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001144663.1 -1 reviewed p.E351D 1.000 217 0% 193 21.8% 0 - probably_damaging(0.975) tolerated(0.09) deleterious(0.714) HMMPfam_Cadherin,superfamily_Cadherin-like GEM 2669 genome.wustl.edu 37 8 95264372 95264372 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005261.3 -1 reviewed p.A163V 0.995 72 0% 75 26.7% 34 0% benign(0.012) tolerated(0.16) neutral(0.060) HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases GEM 2669 genome.wustl.edu 37 8 95272565 95272565 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005261.3 -1 reviewed p.R56Q 1.000 203 0% 330 29.7% 31 0% benign(0.064) tolerated(0.6) neutral(0.009) NULL RAD54B 25788 genome.wustl.edu 37 8 95406084 95406084 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012415.2 -1 reviewed p.E469* 1.000 116 0% 90 34.4% 1 0% - - - HMMPfam_SNF2_N,HMMSmart_DEXDc,superfamily_SSF52540 RAD54B 25788 genome.wustl.edu 37 8 95470577 95470577 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012415.2 -1 reviewed p.E75* 0.035 252 0% 289 28% 1 0% - - - NULL KIAA1429 25962 genome.wustl.edu 37 8 95523551 95523551 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015496.3 -1 validated p.E1084D 1.000 36 0% 62 40.3% 14 42.8% probably_damaging(0.987) tolerated(0.26) deleterious(0.471) NULL ESRP1 54845 genome.wustl.edu 37 8 95680418 95680418 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017697.3 +1 validated p.K391N 0.998 99 0% 137 33.6% 82 41.4% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD ESRP1 54845 genome.wustl.edu 37 8 95709089 95709089 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017697.3 +1 validated p.E661K 1.000 304 0% 473 33.4% 52 38.4% possibly_damaging(0.575) tolerated(0.09) deleterious(0.493) NULL INTS8 55656 genome.wustl.edu 37 8 95837220 95837220 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017864.2 +1 provisional p.R77I 1.000 107 0% 218 35.3% 6 33.3% probably_damaging(0.959) deleterious(0) deleterious(0.847) NULL INTS8 55656 genome.wustl.edu 37 8 95886790 95886790 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017864.2 +1 provisional p.R883Q 1.000 194 0.5% 258 34.5% 29 13.7% benign(0.301) tolerated(0.06) neutral(0.415) NULL C8orf37 157657 genome.wustl.edu 37 8 96276000 96276000 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_177965.2 -1 predicted p.S53L 0.996 193 0% 157 45.2% 1 0% benign(0.009) tolerated(0.06) neutral(0.323) NULL GDF6 392255 genome.wustl.edu 37 8 97157009 97157009 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001001557.2 -1 reviewed p.E384K 1.000 160 0% 241 24.1% 0 - benign(0.401) deleterious(0) deleterious(0.574) HMMPfam_TGF_beta,HMMSmart_TGFB,PatternScan_TGF_BETA_1,superfamily_SSF57501 UQCRB 7381 genome.wustl.edu 37 8 97245421 97245421 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006294.3 -1 reviewed p.R18 0.979 188 0% 277 37.5% 586 39% - - - HMMPfam_UCR_14kD,superfamily_14 kDa protein of cytochrome bc1 complex (Ubiquinol-cytochrome c reductase) MTERFD1 51001 genome.wustl.edu 37 8 97256275 97256275 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015942.3 -1 provisional p.E311K 1.000 357 0% 444 32.2% 25 44% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_mTERF PTDSS1 9791 genome.wustl.edu 37 8 97285595 97285595 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014754.1 +1 provisional p.I83S 1.000 489 0% 773 34.8% 27 59.2% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL PTDSS1 9791 genome.wustl.edu 37 8 97316364 97316364 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014754.1 +1 provisional p.S283 0.997 249 0% 372 33.3% 44 45.4% - - - HMMPfam_PSS SDC2 6383 genome.wustl.edu 37 8 97614720 97614720 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002998.3 +1 reviewed p.T90 0.677 133 0% 226 31.4% 89 31.4% - - - HMMPfam_Syndecan C8orf47 203111 genome.wustl.edu 37 8 99101455 99101455 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173549.2 +1 validated p.E70 0.072 50 0% 125 30.4% 0 - - - - NULL C8orf47 203111 genome.wustl.edu 37 8 99101900 99101900 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173549.2 +1 validated p.E219* 0.002 30 0% 44 29.5% 0 - - - - NULL POP1 10940 genome.wustl.edu 37 8 99142311 99142311 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015029.2 +1 reviewed p.K198E 1.000 86 0% 107 35.5% 5 40% possibly_damaging(0.95) tolerated(0.16) neutral(0.453) HMMPfam_POP1 NIPAL2 79815 genome.wustl.edu 37 8 99248397 99248397 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024759.1 -1 provisional p.A141V 0.998 140 0% 155 39.4% 0 - possibly_damaging(0.527) tolerated(0.49) neutral(0.189) HMMPfam_DUF803,superfamily_SSF103481 KCNS2 3788 genome.wustl.edu 37 8 99441463 99441463 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020697.2 +1 provisional p.R419H 1.000 95 0% 149 25.5% 0 - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) superfamily_Voltage-gated potassium channels STK3 6788 genome.wustl.edu 37 8 99779497 99779497 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006281.2 -1 validated p.E70D 1.000 196 0% 284 34.9% 5 40% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase STK3 6788 genome.wustl.edu 37 8 99786981 99786981 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006281.2 -1 validated p.E31D 1.000 194 0% 254 28.7% 6 0% benign(0.364) tolerated(0.08) neutral(0.416) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase VPS13B 157680 genome.wustl.edu 37 8 100147932 100147932 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017890.3 +1 reviewed p.E512* 1.000 237 0% 265 33.6% 3 0% - - - NULL VPS13B 157680 genome.wustl.edu 37 8 100847455 100847455 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017890.3 +1 reviewed p.L3240 0.984 61 0% 83 32.5% 0 - - - - NULL VPS13B 157680 genome.wustl.edu 37 8 100871590 100871590 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017890.3 +1 reviewed p.I3667 0.015 156 0% 162 48.8% 1 0% - - - NULL RGS22 26166 genome.wustl.edu 37 8 101054038 101054038 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015668.3 -1 validated p.E644* 0.994 225 0% 340 32.6% 0 - - - - NULL RGS22 26166 genome.wustl.edu 37 8 101075840 101075840 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015668.3 -1 validated p.S386R 0.922 360 0% 427 30.9% 0 - benign(0.406) tolerated(0.13) neutral(0.383) NULL RGS22 26166 genome.wustl.edu 37 8 101083615 101083615 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015668.3 -1 validated p.F192 1.000 256 0% 306 32.7% 0 - - - - NULL FBXO43 286151 genome.wustl.edu 37 8 101152971 101152971 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001029860.2 -1 validated p.R504I 1.000 130 0% 162 29% 0 - probably_damaging(0.978) deleterious(0.04) deleterious(0.769) HMMPfam_F-box FBXO43 286151 genome.wustl.edu 37 8 101153093 101153093 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001029860.2 -1 validated p.G463 0.002 213 0% 351 26.2% 1 0% - - - NULL FBXO43 286151 genome.wustl.edu 37 8 101153456 101153456 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001029860.2 -1 validated p.E342D 0.961 117 0% 226 36.7% 0 - benign(0) tolerated(1) - NULL FBXO43 286151 genome.wustl.edu 37 8 101154286 101154286 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001029860.2 -1 validated p.D66N 0.399 49 0% 51 29.4% 1 0% possibly_damaging(0.757) tolerated(0.2) neutral(0.329) NULL SPAG1 6674 genome.wustl.edu 37 8 101190137 101190137 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003114.3 +1 reviewed p.R132C 1.000 156 0% 239 31.4% 2 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SPAG1 6674 genome.wustl.edu 37 8 101243442 101243442 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003114.3 +1 reviewed p.N638 0.965 110 0% 118 33.9% 4 75% - - - HMMSmart_SM00028,superfamily_Protein prenylyltransferase SPAG1 6674 genome.wustl.edu 37 8 101243501 101243501 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003114.3 +1 reviewed p.A658V 1.000 75 0% 69 30.4% 9 66.6% benign(0.022) deleterious(0.01) neutral(0.407) HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_Protein prenylyltransferase SPAG1 6674 genome.wustl.edu 37 8 101252864 101252864 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003114.3 +1 reviewed p.P838 0.000 151 0% 153 32.7% 3 100% - - - NULL PABPC1 26986 genome.wustl.edu 37 8 101718929 101718929 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002568.3 -1 validated p.R518C 1.000 97 0% 147 29.3% 1864 36.5% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_PABC (PABP) domain UBR5 51366 genome.wustl.edu 37 8 103307683 103307683 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015902.4 -1 reviewed p.R1297Q 1.000 183 0.5% 128 32% 10 30% probably_damaging(0.994) deleterious(0.01) deleterious(0.858) NULL UBR5 51366 genome.wustl.edu 37 8 103323586 103323586 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015902.4 -1 reviewed p.N853H 1.000 93 0% 104 35.6% 3 66.6% possibly_damaging(0.855) tolerated(0.12) deleterious(0.591) NULL UBR5 51366 genome.wustl.edu 37 8 103340027 103340027 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015902.4 -1 reviewed p.S475Y 1.000 163 0% 260 29.2% 7 42.8% possibly_damaging(0.855) deleterious(0) deleterious(0.774) NULL FZD6 8323 genome.wustl.edu 37 8 104340620 104340620 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003506.3 +1 reviewed p.F506C 1.000 241 0% 239 31.4% 6 50% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_Frizzled DCAF13 25879 genome.wustl.edu 37 8 104439464 104439464 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015420.6 +1 validated p.K355T 1.000 172 0% 229 29.7% 44 43.1% possibly_damaging(0.78) deleterious(0.01) deleterious(0.697) HMMSmart_WD40,superfamily_WD40_like RIMS2 9699 genome.wustl.edu 37 8 104924317 104924317 + Missense_Mutation SNP C C T rs141316868 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001100117.1 +1 validated p.R577C 1.000 169 0% 190 34.2% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_PDZ domain-like TM7SF4 81501 genome.wustl.edu 37 8 105367240 105367240 + Missense_Mutation SNP A A T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030788.2 +1 reviewed p.M389L 0.001 260 0% 285 27% 0 - benign(0) tolerated(0.35) neutral(0.021) HMMPfam_DC_STAMP DPYS 1807 genome.wustl.edu 37 8 105405061 105405061 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001385.2 -1 reviewed p.R465Q 0.998 137 0% 134 35.8% 0 - probably_damaging(0.954) deleterious(0.04) deleterious(0.746) superfamily_Metalo_hydrolase ZFPM2 23414 genome.wustl.edu 37 8 106813313 106813313 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012082.3 +1 reviewed p.L335I 1.000 149 0% 174 37.9% 1 0% probably_damaging(0.99) tolerated(0.14) deleterious(0.691) HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZFPM2 23414 genome.wustl.edu 37 8 106813886 106813886 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012082.3 +1 reviewed p.R526W 0.983 50 0% 54 38.9% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL OXR1 55074 genome.wustl.edu 37 8 107752593 107752593 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018002.2 +1 validated p.R702I 1.000 170 0% 194 27.3% 15 33.3% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMSmart_SM00584 TRHR 7201 genome.wustl.edu 37 8 110131635 110131635 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003301.4 +1 reviewed p.S383Y 0.973 82 0% 41 36.6% 0 - benign(0.397) tolerated(0.1) neutral(0.414) NULL NUDCD1 84955 genome.wustl.edu 37 8 110293400 110293400 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032869.3 -1 validated p.E275D 1.000 144 0% 174 33.9% 11 18.1% benign(0) tolerated(0.61) neutral(0.004) superfamily_HSP20-like chaperones PKHD1L1 93035 genome.wustl.edu 37 8 110416920 110416920 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_177531.4 +1 validated p.S504L 0.994 164 0% 179 36.3% 0 - possibly_damaging(0.643) tolerated(0.1) deleterious(0.512) NULL PKHD1L1 93035 genome.wustl.edu 37 8 110442244 110442244 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_177531.4 +1 validated p.V1069 0.033 278 0% 384 38% 0 - - - - HMMPfam_TIG,HMMSmart_SM00429,superfamily_E set domains PKHD1L1 93035 genome.wustl.edu 37 8 110463270 110463270 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_177531.4 +1 validated p.T2081I 0.004 120 0% 135 37% 0 - benign(0.093) tolerated(0.5) neutral(0.017) HMMPfam_TIG,HMMSmart_SM00429,superfamily_E set domains PKHD1L1 93035 genome.wustl.edu 37 8 110503228 110503228 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_177531.4 +1 validated p.R3338* 0.998 214 0% 130 33.1% 0 - - - - superfamily_Pectin lyase-like PKHD1L1 93035 genome.wustl.edu 37 8 110519970 110519970 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_177531.4 +1 validated p.S3691 1.000 179 0% 132 34.1% 0 - - - - NULL SYBU 55638 genome.wustl.edu 37 8 110587490 110587490 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001099744.1 -1 validated p.R546I 0.014 76 0% 62 30.6% 3 66.6% benign(0.128) tolerated(0.17) neutral(0.069) NULL CSMD3 114788 genome.wustl.edu 37 8 113253987 113253987 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198123.1 -1 validated p.P3477H 0.554 183 0% 102 28.4% 0 - possibly_damaging(0.902) tolerated(0.07) deleterious(0.676) NULL CSMD3 114788 genome.wustl.edu 37 8 113276013 113276013 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198123.1 -1 validated p.I3239 1.000 132 0% 131 29% 0 - - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CSMD3 114788 genome.wustl.edu 37 8 113314116 113314116 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198123.1 -1 validated p.I2782 0.994 250 0% 238 26.1% 0 - - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CSMD3 114788 genome.wustl.edu 37 8 113364662 113364662 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198123.1 -1 validated p.Q2080K 1.000 141 0% 154 32.5% 0 - probably_damaging(0.972) tolerated(0.13) deleterious(0.666) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CSMD3 114788 genome.wustl.edu 37 8 113392594 113392594 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198123.1 -1 validated p.H2041 1.000 173 0% 172 32% 0 - - - - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CSMD3 114788 genome.wustl.edu 37 8 113697859 113697859 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198123.1 -1 validated p.S753Y 1.000 143 0.7% 113 33.6% 0 - unknown(0) deleterious(0.03) - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CSMD3 114788 genome.wustl.edu 37 8 113702126 113702126 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198123.1 -1 validated p.Q709P 1.000 239 0% 213 28.6% 0 - unknown(0) deleterious(0.04) - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain TRPS1 7227 genome.wustl.edu 37 8 116616419 116616419 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014112.2 -1 reviewed p.E593* 1.000 180 0% 178 25.8% 4 0% - - - NULL TRPS1 7227 genome.wustl.edu 37 8 116616594 116616594 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014112.2 -1 reviewed p.T534 0.864 170 0% 143 27.3% 1 0% - - - NULL TRPS1 7227 genome.wustl.edu 37 8 116617112 116617112 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014112.2 -1 reviewed p.E362K 1.000 251 0% 282 32.6% 1 0% probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMSmart_ZnF_C2H2 UTP23 84294 genome.wustl.edu 37 8 117783964 117783964 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032334.2 +1 validated p.K211N 1.000 45 0% 60 40% 5 20% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL RAD21 5885 genome.wustl.edu 37 8 117861241 117861241 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006265.2 -1 reviewed p.D550Y 1.000 316 0% 289 31.1% 63 33.3% probably_damaging(0.958) deleterious(0.01) deleterious(0.807) NULL RAD21 5885 genome.wustl.edu 37 8 117878883 117878883 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006265.2 -1 reviewed p.K29T 1.000 80 0% 68 35.3% 18 27.7% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Rad21_Rec8_N SLC30A8 169026 genome.wustl.edu 37 8 118159330 118159330 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173851.2 +1 reviewed p.A70V 1.000 167 0% 136 29.4% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL EXT1 2131 genome.wustl.edu 37 8 119122723 119122723 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000127.2 -1 reviewed p.R188M 1.000 73 0% 100 33% 6 16.6% probably_damaging(0.959) deleterious(0) deleterious(0.847) HMMPfam_Exostosin TNFRSF11B 4982 genome.wustl.edu 37 8 119936821 119936821 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002546.3 -1 reviewed p.R333Q 0.997 332 0% 399 26.6% 1 0% probably_damaging(0.982) tolerated(0.3) neutral(0.455) HMMPfam_Death,HMMSmart_SM00005,superfamily_DEATH domain TNFRSF11B 4982 genome.wustl.edu 37 8 119941102 119941102 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002546.3 -1 reviewed p.S156Y 0.976 358 0% 373 31.6% 0 - probably_damaging(0.992) deleterious(0.05) deleterious(0.793) HMMSmart_SM00208,superfamily_TNF receptor-like NOV 4856 genome.wustl.edu 37 8 120429016 120429016 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002514.3 +1 reviewed p.C39 0.997 33 0% 37 48.6% 0 - - - - HMMPfam_IGFBP,HMMSmart_IB ENPP2 5168 genome.wustl.edu 37 8 120575158 120575158 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006209.3 -1 reviewed p.G839V 1.000 129 0% 215 39.1% 29 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Endonuclease_NS,HMMSmart_SM00477,superfamily_His-Me finger endonucleases ENPP2 5168 genome.wustl.edu 37 8 120631537 120631537 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006209.3 -1 reviewed p.S142 0.318 195 0% 207 29% 7 0% - - - HMMPfam_Somatomedin_B,HMMSmart_SM00201 ENPP2 5168 genome.wustl.edu 37 8 120650739 120650739 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006209.3 -1 reviewed p.G21E 0.954 188 0% 240 35.4% 2 0% possibly_damaging(0.829) deleterious(0) deleterious(0.759) NULL TAF2 6873 genome.wustl.edu 37 8 120814204 120814204 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003184.3 -1 reviewed p.V208L 1.000 134 0% 211 27.5% 1 0% probably_damaging(0.958) tolerated(0.09) deleterious(0.698) HMMPfam_Peptidase_M1,superfamily_SSF63737 COL14A1 7373 genome.wustl.edu 37 8 121180405 121180405 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021110.1 +1 validated p.D119Y 1.000 81 0% 75 33.3% 2 0% probably_damaging(0.964) deleterious(0.02) deleterious(0.789) NULL MTBP 27085 genome.wustl.edu 37 8 121519076 121519076 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022045.3 +1 provisional p.L620I 1.000 166 0% 128 25% 4 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL HAS2 3037 genome.wustl.edu 37 8 122627007 122627007 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005328.2 -1 reviewed p.S334F 1.000 171 0% 210 31% 4 25% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_SSF53448 WDR67 93594 genome.wustl.edu 37 8 124089350 124089350 + Splice_Site SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145647.3 +1 validated e2-1 1.000 218 0% 303 32% 0 - - - - - WDR67 93594 genome.wustl.edu 37 8 124096440 124096440 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145647.3 +1 validated p.S127A 0.969 157 0% 330 36.1% 0 - benign(0.282) tolerated(0.55) neutral(0.093) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 ZHX1 11244 genome.wustl.edu 37 8 124265726 124265726 + Silent SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001017926.1 -1 reviewed p.R821 1.000 246 0% 274 34.7% 9 55.5% - - - HMMSmart_HOX,superfamily_Homeodomain_like ZHX1 11244 genome.wustl.edu 37 8 124267679 124267679 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001017926.1 -1 reviewed p.E170* 0.898 128 0% 141 34% 2 0% - - - NULL ZHX1 11244 genome.wustl.edu 37 8 124267871 124267871 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001017926.1 -1 reviewed p.E106K 0.982 157 0% 223 34.5% 3 66.6% probably_damaging(0.998) tolerated(0.15) deleterious(0.716) HMMSmart_ZnF_C2H2 FBXO32 114907 genome.wustl.edu 37 8 124547024 124547024 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_058229.2 -1 reviewed p.E49D 1.000 413 0% 534 35.6% 23 4.3% probably_damaging(0.975) tolerated(0.27) neutral(0.451) NULL KLHL38 340359 genome.wustl.edu 37 8 124664722 124664722 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001081675.2 -1 validated p.E149K 0.983 49 0% 47 40.4% 0 - benign(0.001) tolerated(0.69) neutral(0.002) HMMPfam_BACK FER1L6 654463 genome.wustl.edu 37 8 124989810 124989810 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001039112.2 +1 validated p.D342Y 1.000 131 0% 184 31.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) FER1L6 654463 genome.wustl.edu 37 8 125015536 125015536 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001039112.2 +1 validated p.P550H 0.189 52 0% 41 31.7% 0 - possibly_damaging(0.502) deleterious(0.01) deleterious(0.573) NULL FER1L6 654463 genome.wustl.edu 37 8 125072866 125072866 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001039112.2 +1 validated p.C1021 0.996 272 0% 344 30.5% 0 - - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB) FER1L6 654463 genome.wustl.edu 37 8 125109590 125109590 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001039112.2 +1 validated p.R1592* 0.996 115 0% 96 27.1% 0 - - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB) TRMT12 55039 genome.wustl.edu 37 8 125463271 125463271 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017956.3 +1 validated p.E35* 0.988 145 0% 247 30% 5 40% - - - NULL RNF139 11236 genome.wustl.edu 37 8 125487357 125487358 + Frame_Shift_Ins INS - - C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007218.3 +1 reviewed p.V4fs 1.000:1.000 - - - - - - - - - NULL TATDN1 83940 genome.wustl.edu 37 8 125516547 125516547 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032026.3 -1 validated p.L186F 0.985 101 0% 189 25.9% 31 45.1% benign(0.002) tolerated(0.09) neutral(0.296) HMMPfam_TatD_DNase,superfamily_Metallo-dependent hydrolases ZNF572 137209 genome.wustl.edu 37 8 125989469 125989469 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152412.2 +1 validated p.R320I 0.980 77 0% 96 30.2% 0 - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF572 137209 genome.wustl.edu 37 8 125989485 125989485 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152412.2 +1 validated p.E325D 1.000 79 0% 123 34.1% 0 - possibly_damaging(0.723) deleterious(0.04) deleterious(0.611) superfamily_SSF57667 SQLE 6713 genome.wustl.edu 37 8 126033040 126033040 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003129.3 +1 reviewed p.L487I 1.000 299 0% 281 25.3% 46 43.4% probably_damaging(0.992) deleterious(0.03) deleterious(0.812) HMMPfam_SE,superfamily_SSF51905 KIAA0196 9897 genome.wustl.edu 37 8 126061251 126061251 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014846.3 -1 reviewed p.T792 0.974 133 0% 134 32.1% 16 31.2% - - - HMMPfam_Strumpellin KIAA0196 9897 genome.wustl.edu 37 8 126075832 126075832 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014846.3 -1 reviewed p.S447L 1.000 193 0% 252 36.9% 15 40% benign(0.138) tolerated(0.65) neutral(0.014) HMMPfam_Strumpellin KIAA0196 9897 genome.wustl.edu 37 8 126091037 126091037 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014846.3 -1 reviewed p.N218 0.971 234 0% 378 30.7% 5 20% - - - HMMPfam_Strumpellin TRIB1 10221 genome.wustl.edu 37 8 126448483 126448483 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025195.2 +1 validated p.R297W 1.000 166 0% 204 35.3% 13 46.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase GSDMC 56169 genome.wustl.edu 37 8 130788400 130788400 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031415.2 -1 validated p.E118K 0.000 257 0% 358 29.6% 0 - benign(0.011) tolerated(0.19) neutral(0.050) HMMPfam_Gasdermin ASAP1 50807 genome.wustl.edu 37 8 131140288 131140288 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018482.2 -1 validated p.A422 0.992 181 0% 262 38.2% 4 75% - - - superfamily_SSF50729 ASAP1 50807 genome.wustl.edu 37 8 131414152 131414152 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018482.2 -1 validated p.S13L 0.991 74 0% 91 38.5% 0 - unknown(0) - - NULL ADCY8 114 genome.wustl.edu 37 8 131880098 131880098 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001115.2 -1 reviewed p.S735Y 1.000 144 0.7% 147 38.1% 0 - probably_damaging(0.983) deleterious(0.04) deleterious(0.778) NULL EFR3A 23167 genome.wustl.edu 37 8 132958879 132958879 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015137.3 +1 validated p.S122Y 1.000 149 0% 101 41.6% 2 50% probably_damaging(0.994) deleterious(0) deleterious(0.897) superfamily_ARM repeat KCNQ3 3786 genome.wustl.edu 37 8 133141543 133141543 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004519.2 -1 reviewed p.D862G 0.999 88 1.1% 92 26.1% 0 - possibly_damaging(0.944) deleterious(0) deleterious(0.833) NULL TMEM71 137835 genome.wustl.edu 37 8 133740063 133740063 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144649.2 -1 validated p.E200D 0.000 153 0% 218 29.4% 1 0% benign(0.323) tolerated(0.5) neutral(0.111) NULL TMEM71 137835 genome.wustl.edu 37 8 133771118 133771118 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144649.2 -1 validated p.R3Q 0.990 206 0% 322 28.6% 0 - benign(0.29) tolerated(0.38) neutral(0.107) NULL PHF20L1 51105 genome.wustl.edu 37 8 133811337 133811337 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000395383 +1 known p.F146 1.000 171 0% 76 25% 0 - - - - NULL PHF20L1 51105 genome.wustl.edu 37 8 133844509 133844509 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016018.4 +1 validated p.E592K 1.000 347 0% 251 31.9% 6 33.3% benign(0.079) tolerated(1) neutral(0.005) NULL TG 7038 genome.wustl.edu 37 8 133941367 133941367 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003235.4 +1 reviewed p.D1582 0.000 289 0% 375 35.7% 0 - - - - NULL TG 7038 genome.wustl.edu 37 8 133981714 133981714 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003235.4 +1 reviewed p.D1959Y 0.075 155 0% 140 30% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL TG 7038 genome.wustl.edu 37 8 133981738 133981738 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003235.4 +1 reviewed p.R1967C 0.989 159 0% 146 39.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL TG 7038 genome.wustl.edu 37 8 134030233 134030233 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003235.4 +1 reviewed p.S2258I 1.000 27 0% 36 41.7% 0 - benign(0.282) deleterious(0) deleterious(0.531) HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases TG 7038 genome.wustl.edu 37 8 134031914 134031914 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003235.4 +1 reviewed p.L2284I 1.000 177 0% 239 31.8% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_COesterase,PatternScan_CARBOXYLESTERASE_B_2,superfamily_alpha/beta-Hydrolases TG 7038 genome.wustl.edu 37 8 134145713 134145713 + Splice_Site SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003235.4 +1 reviewed e47-1 1.000 316 0% 417 33.3% 0 - - - - - ZFAT 57623 genome.wustl.edu 37 8 135545154 135545154 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020863.3 -1 reviewed p.Y1013S 1.000 190 0% 270 34.8% 4 0% probably_damaging(1) deleterious(0.04) deleterious(0.849) PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers FAM135B 51059 genome.wustl.edu 37 8 139144866 139144866 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015912.3 -1 validated p.F1397L 1.000 167 1.2% 302 38.4% 0 - benign(0.107) tolerated(0.27) neutral(0.042) NULL FAM135B 51059 genome.wustl.edu 37 8 139163990 139163990 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015912.3 -1 validated p.D910Y 0.467 226 0% 299 31.1% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL FAM135B 51059 genome.wustl.edu 37 8 139278034 139278034 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015912.3 -1 validated p.R70Q 0.999 133 0% 129 35.7% 0 - probably_damaging(0.999) tolerated(0.08) deleterious(0.790) NULL FAM135B 51059 genome.wustl.edu 37 8 139323090 139323090 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015912.3 -1 validated p.Q51* 1.000 63 0% 109 36.7% 0 - - - - NULL FAM135B 51059 genome.wustl.edu 37 8 139380208 139380208 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015912.3 -1 validated p.T7A 1.000 235 0% 324 30.6% 0 - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) NULL COL22A1 169044 genome.wustl.edu 37 8 139668162 139668162 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152888.1 -1 validated p.G1104E 0.991 334 0% 503 33.2% 0 - unknown(0) tolerated(1) - NULL COL22A1 169044 genome.wustl.edu 37 8 139675946 139675946 + Splice_Site SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152888.1 -1 validated e41+2 1.000 242 0% 316 28.8% 0 - - - - - COL22A1 169044 genome.wustl.edu 37 8 139688866 139688866 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152888.1 -1 validated p.A1029S 0.178 79 0% 112 38.4% 0 - unknown(0) tolerated(0.81) - NULL COL22A1 169044 genome.wustl.edu 37 8 139727975 139727975 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152888.1 -1 validated p.E823* 0.997 120 0% 155 44.5% 1 0% - - - HMMPfam_Collagen COL22A1 169044 genome.wustl.edu 37 8 139833563 139833563 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152888.1 -1 validated p.S354Y 0.011 166 0% 208 38.9% 0 - unknown(0) deleterious(0) - HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases COL22A1 169044 genome.wustl.edu 37 8 139890047 139890047 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152888.1 -1 validated p.D202N 0.998 17 0% 18 27.8% 0 - unknown(0) deleterious(0) - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like TRAPPC9 83696 genome.wustl.edu 37 8 141285824 141285824 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031466.5 -1 reviewed p.K835N 0.001 205 0% 363 39.1% 17 35.2% benign(0.032) deleterious(0.01) neutral(0.407) HMMPfam_Trs120 DENND3 22898 genome.wustl.edu 37 8 142178355 142178355 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014957.2 +1 validated p.R589Q 0.000 85 0% 140 40% 2 0% possibly_damaging(0.868) tolerated(0.58) neutral(0.342) NULL DENND3 22898 genome.wustl.edu 37 8 142202480 142202480 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014957.2 +1 validated p.E1064* 0.009 113 0% 219 27.4% 7 0% - - - superfamily_WD40 repeat-like FLJ43860 389690 genome.wustl.edu 37 8 142446801 142446801 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_207414.2 -1 validated p.R1128 0.620 16 0% 18 33.3% 0 - - - - superfamily_ARM repeat FLJ43860 389690 genome.wustl.edu 37 8 142476520 142476520 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_207414.2 -1 validated p.I822 0.002 174 0% 317 34.1% 0 - - - - superfamily_ARM repeat FLJ43860 389690 genome.wustl.edu 37 8 142484237 142484237 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_207414.2 -1 validated p.L587 0.781 99 0% 97 39.2% 0 - - - - superfamily_ARM repeat BAI1 575 genome.wustl.edu 37 8 143562683 143562683 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001702.2 +1 reviewed p.R633C 1.000 48 0% 59 32.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HRM,HMMSmart_SM00008 ARC 23237 genome.wustl.edu 37 8 143694541 143694541 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015193.3 -1 validated p.E364 0.980 18 0% 17 41.2% 0 - - - - NULL SLURP1 57152 genome.wustl.edu 37 8 143823261 143823261 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020427.2 -1 reviewed p.E46D 0.102 126 0% 122 39.3% 0 - benign(0.075) tolerated(0.64) neutral(0.008) HMMPfam_UPAR_LY6,HMMSmart_LU,superfamily_SSF57302 LY6D 8581 genome.wustl.edu 37 8 143866841 143866841 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003695.2 -1 validated p.K61 0.370 68 0% 49 44.9% 4 25% - - - HMMPfam_UPAR_LY6,HMMSmart_SM00134,PatternScan_LY6_UPAR,superfamily_Snake toxin-like CYP11B2 1585 genome.wustl.edu 37 8 143996298 143996298 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000498.3 -1 reviewed p.R208W 1.000 70 0% 92 26.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_p450,superfamily_Cytochrome P450 TOP1MT 116447 genome.wustl.edu 37 8 144413487 144413487 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_052963.1 -1 reviewed p.D49Y 0.912 66 0% 98 30.6% 3 33.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_TopoI_DNA_bd_euk ZC3H3 23144 genome.wustl.edu 37 8 144550620 144550620 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015117.2 -1 validated p.F679 0.567 40 0% 60 33.3% 36 47.2% - - - HMMPfam_zf-CCCH,HMMSmart_SM00356,superfamily_CCCH zinc finger PUF60 22827 genome.wustl.edu 37 8 144898751 144898751 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_078480.1 -1 reviewed p.R540H 1.000 172 0% 231 30.7% 351 43.3% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMSmart_SM00360,HMMSmart_SM00361,superfamily_RNA-binding domain RBD PUF60 22827 genome.wustl.edu 37 8 144899945 144899945 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_078480.1 -1 reviewed p.E275D 0.998 35 0% 46 37% 191 45.5% benign(0) tolerated(0.44) neutral(0.013) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD EPPK1 83481 genome.wustl.edu 37 8 144944812 144944812 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031308.1 -1 validated p.A870 0.000 19 0% 13 61.5% 0 - - - - HMMSmart_SM00250 PLEC 5339 genome.wustl.edu 37 8 144998384 144998384 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_201380.2 -1 reviewed p.E2042K 1.000 16 0% 20 30% 20 30% unknown(0) - - NULL PLEC 5339 genome.wustl.edu 37 8 145024540 145024540 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_201380.2 -1 reviewed p.R112H 0.993 24 0% 44 29.5% 1 100% unknown(0) - - NULL PARP10 84875 genome.wustl.edu 37 8 145059118 145059118 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032789.3 -1 validated p.S351L 0.001 61 0% 80 35% 3 0% benign(0.04) deleterious(0) neutral(0.447) NULL OPLAH 26873 genome.wustl.edu 37 8 145112502 145112502 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000426825 -1 known p.R424H 0.085 28 0% 45 42.2% 3 0% probably_damaging(0.973) tolerated(0.15) deleterious(0.656) HMMPfam_Hydantoinase_A SLC52A2 79581 genome.wustl.edu 37 8 145583921 145583921 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024531.3 +1 validated p.A257T 0.022 14 0% 41 46.3% 148 45.9% benign(0.129) tolerated(0.6) neutral(0.015) NULL TONSL 4796 genome.wustl.edu 37 8 145661050 145661050 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013432.4 -1 reviewed p.G922 0.024 23 0% 18 50% 17 70.5% - - - NULL TONSL 4796 genome.wustl.edu 37 8 145669329 145669329 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013432.4 -1 reviewed p.A67D 1.000 8 0.000 9 0.444 5 60% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00028,superfamily_TPR-like ARHGAP39 80728 genome.wustl.edu 37 8 145763177 145763177 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025251.1 -1 validated p.L848I 1.000 284 0% 433 34.4% 8 12.5% possibly_damaging(0.701) tolerated(0.4) neutral(0.268) HMMPfam_MyTH4 ZNF34 80778 genome.wustl.edu 37 8 145999190 145999190 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030580.3 -1 validated p.R382C 0.350 111 0% 162 34.6% 9 22.2% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF7 7553 genome.wustl.edu 37 8 146054881 146054881 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003416.2 +1 validated p.D8N 0.999 128 0% 255 29% 2 50% possibly_damaging(0.921) deleterious(0) deleterious(0.816) HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box ZNF7 7553 genome.wustl.edu 37 8 146067301 146067301 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003416.2 +1 validated p.R270I 0.181 74 0% 125 32.8% 6 16.6% probably_damaging(1) tolerated(0.1) deleterious(0.786) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF7 7553 genome.wustl.edu 37 8 146067385 146067385 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003416.2 +1 validated p.R298I 0.983 104 0% 166 28.9% 13 38.4% probably_damaging(0.983) tolerated(0.11) deleterious(0.701) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 C8orf33 65265 genome.wustl.edu 37 8 146278181 146278181 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_023080.2 +1 validated p.K72N 0.994 29 0% 55 27.3% 20 40% probably_damaging(0.98) tolerated(0.37) neutral(0.443) NULL FOXD4 2298 genome.wustl.edu 37 9 118039 118039 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_207305.3 -1 validated p.I27 0.999 118 0% 128 28.1% 1 100% - - - NULL CBWD1 55871 genome.wustl.edu 37 9 172148 172148 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018491.3 -1 validated p.E121D 1.000 854 0% 1250 30.6% 16 25% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_cobW,superfamily_P-loop containing nucleoside triphosphate hydrolases DOCK8 81704 genome.wustl.edu 37 9 339015 339015 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_203447.3 +1 reviewed p.R410C 0.999 167 0% 210 35.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL DOCK8 81704 genome.wustl.edu 37 9 407048 407048 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_203447.3 +1 reviewed p.A1102V 1.000 81 0% 74 35.1% 0 - benign(0.008) tolerated(1) - NULL DOCK8 81704 genome.wustl.edu 37 9 452072 452072 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_203447.3 +1 reviewed p.R1940Q 1.000 106 0% 151 25.2% 4 0% probably_damaging(0.998) tolerated(0.19) deleterious(0.524) HMMPfam_Ded_cyto DOCK8 81704 genome.wustl.edu 37 9 463658 463658 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_203447.3 +1 reviewed p.K2002N 1.000 126 0% 224 30.8% 2 0% benign(0.378) tolerated(0.11) neutral(0.392) NULL DMRT1 1761 genome.wustl.edu 37 9 916815 916815 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021951.2 +1 reviewed p.S292Y 0.999 195 0% 241 37.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL DMRT3 58524 genome.wustl.edu 37 9 990704 990704 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021240.2 +1 validated p.R373M 1.000 63 0% 66 40.9% 2 100% probably_damaging(0.96) deleterious(0) deleterious(0.848) NULL SMARCA2 6595 genome.wustl.edu 37 9 2032966 2032966 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003070.3 +1 reviewed p.I80M 1.000 111 0% 123 34.1% 9 33.3% benign(0) tolerated(1) - NULL SMARCA2 6595 genome.wustl.edu 37 9 2104109 2104109 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003070.3 +1 reviewed p.L1078F 1.000 271 0% 392 36% 20 30% possibly_damaging(0.45) deleterious(0.02) deleterious(0.530) superfamily_P-loop containing nucleoside triphosphate hydrolases SMARCA2 6595 genome.wustl.edu 37 9 2192726 2192726 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003070.3 +1 reviewed p.T1587M 1.000 216 0% 402 32.6% 51 37.2% unknown(0) deleterious(0.03) - NULL VLDLR 7436 genome.wustl.edu 37 9 2651926 2651926 + Silent SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003383.3 +1 reviewed p.T796 0.990 196 0% 184 28.8% 49 28.5% - - - NULL KIAA0020 9933 genome.wustl.edu 37 9 2807836 2807836 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014878.4 -1 validated p.R598* 1.000 153 0% 224 37.9% 75 52% - - - NULL RFX3 5991 genome.wustl.edu 37 9 3266284 3266284 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_134428.1 -1 reviewed p.R460Q 1.000 249 0% 160 33.1% 6 16.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL C9orf68 55064 genome.wustl.edu 37 9 4617927 4617927 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001039395.3 -1 validated p.E331* 0.987 111 0% 156 29.5% 0 - - - - NULL CDC37L1 55664 genome.wustl.edu 37 9 4688540 4688540 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017913.2 +1 validated p.D148Y 1.000 63 0% 93 26.9% 6 16.6% benign(0.301) tolerated(0.1) neutral(0.379) HMMPfam_CDC37_M CDC37L1 55664 genome.wustl.edu 37 9 4701895 4701895 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017913.2 +1 validated p.K260R 1.000 146 0% 169 36.7% 8 25% probably_damaging(0.98) tolerated(0.19) deleterious(0.473) HMMPfam_CDC37_M,superfamily_SSF101391 JAK2 3717 genome.wustl.edu 37 9 5022008 5022008 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004972.3 +1 reviewed p.T7 0.465 123 0% 177 28.2% 0 - - - - NULL JAK2 3717 genome.wustl.edu 37 9 5054832 5054832 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004972.3 +1 reviewed p.G295E 1.000 128 0% 136 35.3% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL JAK2 3717 genome.wustl.edu 37 9 5066739 5066739 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004972.3 +1 reviewed p.R426* 1.000 213 0% 274 33.9% 3 33.3% - - - HMMPfam_SH2,HMMSmart_SH2,superfamily_SSF55550 JAK2 3717 genome.wustl.edu 37 9 5081742 5081742 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004972.3 +1 reviewed p.E818* 1.000 268 0.4% 304 28% 2 0% - - - superfamily_Kinase_like INSL6 11172 genome.wustl.edu 37 9 5163961 5163961 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007179.2 -1 reviewed p.F198L 0.004 149 0% 224 36.2% 0 - possibly_damaging(0.478) tolerated(0.06) deleterious(0.481) superfamily_Insulin-like CD274 29126 genome.wustl.edu 37 9 5456131 5456131 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014143.3 +1 validated p.V6 0.001 349 0.3% 331 26% 0 - - - - NULL KIAA1432 57589 genome.wustl.edu 37 9 5763751 5763751 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020829.2 +1 validated p.T829 0.681 121 0% 155 34.2% 9 44.4% - - - HMMPfam_RIC1 KIAA1432 57589 genome.wustl.edu 37 9 5772740 5772740 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020829.2 +1 validated p.R1186W 0.982 120 0% 126 35.7% 8 12.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL KIAA2026 158358 genome.wustl.edu 37 9 5922556 5922556 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001017969.2 -1 validated p.S1147Y 0.899 307 0% 401 29.2% 7 42.8% possibly_damaging(0.496) deleterious(0.01) deleterious(0.571) NULL KIAA2026 158358 genome.wustl.edu 37 9 5954090 5954090 + Nonsense_Mutation SNP T T A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001017969.2 -1 validated p.K740* 1.000 348 0% 447 33.8% 3 33.3% - - - NULL KIAA2026 158358 genome.wustl.edu 37 9 5968511 5968511 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001017969.2 -1 validated p.R574C 0.409 141 0% 147 34.7% 5 40% benign(0.006) deleterious(0.03) neutral(0.364) NULL RANBP6 26953 genome.wustl.edu 37 9 6013426 6013426 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012416.2 -1 validated p.R728* 1.000 93 0% 166 34.3% 9 44.4% - - - superfamily_ARM-type_fold RANBP6 26953 genome.wustl.edu 37 9 6014635 6014635 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012416.2 -1 validated p.D325N 1.000 106 0% 168 30.4% 2 50% probably_damaging(0.987) deleterious(0) deleterious(0.881) superfamily_ARM-type_fold LOC645969 645969 genome.wustl.edu 37 9 6279151 6279151 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002342907.1 +1 model p.R136Q 0.699 187 0% 277 35% 1 0% - - - NULL TPD52L3 89882 genome.wustl.edu 37 9 6328635 6328635 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033516.5 +1 reviewed p.E14* 0.039 64 0% 97 34% 0 - - - - HMMPfam_TPD52 GLDC 2731 genome.wustl.edu 37 9 6644632 6644632 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000170.2 -1 reviewed p.K106Q 1.000 136 0% 261 43.3% 0 - possibly_damaging(0.444) tolerated(0.48) neutral(0.155) superfamily_PyrdxlP-dep_Trfase_major,HMMPfam_GDC-P KDM4C 23081 genome.wustl.edu 37 9 6893113 6893113 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015061.3 +1 reviewed p.E268K 1.000 190 0% 198 36.4% 2 0% possibly_damaging(0.889) tolerated(0.05) deleterious(0.695) HMMSmart_SM00558,HMMPfam_JmjC KDM4C 23081 genome.wustl.edu 37 9 6986483 6986483 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015061.3 +1 reviewed p.E498D 0.004 205 0% 255 38.8% 6 16.6% benign(0.055) tolerated(0.31) neutral(0.030) NULL PTPRD 5789 genome.wustl.edu 37 9 8518099 8518099 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002839.3 -1 reviewed p.S431L 0.983 405 0% 347 38.6% 0 - benign(0.121) tolerated(0.22) neutral(0.052) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III PTPRD 5789 genome.wustl.edu 37 9 8521544 8521544 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002839.3 -1 reviewed p.R232C 1.000 83 0% 72 36.1% 1 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL TYRP1 7306 genome.wustl.edu 37 9 12708134 12708134 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000550.2 +1 reviewed p.Q467K 0.998 174 0% 88 28.4% 0 - benign(0.334) tolerated(0.07) neutral(0.424) NULL TYRP1 7306 genome.wustl.edu 37 9 12709023 12709023 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000550.2 +1 reviewed p.G485 0.957 506 0% 185 10.8% 0 - - - - NULL MPDZ 8777 genome.wustl.edu 37 9 13162795 13162795 + Splice_Site SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003829.3 -1 validated e22-1 1.000 261 0.4% 241 35.7% 0 - - - - - MPDZ 8777 genome.wustl.edu 37 9 13196200 13196200 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003829.3 -1 validated p.E526* 0.155 522 0% 442 32.4% 0 - - - - NULL MPDZ 8777 genome.wustl.edu 37 9 13216801 13216801 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003829.3 -1 validated p.R421I 1.000 423 0% 181 31.5% 1 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like LOC138864 138864 genome.wustl.edu 37 9 14069210 14069210 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002342892.1 +1 model p.E94* 0.995 73 0% 59 35.6% 0 - - - - HMMPfam_Mt_ATP-synt_D NFIB 4781 genome.wustl.edu 37 9 14307111 14307111 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005596.2 -1 validated p.D147N 1.000 220 0% 221 35.7% 10 40% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_MH1,HMMSmart_SM00523 NFIB 4781 genome.wustl.edu 37 9 14307200 14307200 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005596.2 -1 validated p.R117I 1.000 216 0% 234 32.5% 12 41.6% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_MH1,HMMSmart_SM00523 FREM1 158326 genome.wustl.edu 37 9 14816805 14816805 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144966.5 -1 reviewed p.N871H 1.000 77 0% 94 35.1% 2 0% benign(0.172) tolerated(0.97) neutral(0.015) NULL FREM1 158326 genome.wustl.edu 37 9 14863874 14863874 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144966.5 -1 reviewed p.E88K 1.000 148 0% 198 31.8% 1 0% probably_damaging(0.98) deleterious(0.02) deleterious(0.807) NULL TTC39B 158219 genome.wustl.edu 37 9 15188068 15188068 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152574.2 -1 validated p.L366 0.997 314 0% 391 30.7% 2 100% - - - HMMPfam_Deme6,superfamily_TPR-like TTC39B 158219 genome.wustl.edu 37 9 15307232 15307232 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000512701 -1 known p.G30 0.071 15 0% 22 22.7% 0 - - - - NULL C9orf93 203238 genome.wustl.edu 37 9 15777723 15777723 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173550.2 +1 predicted p.Y933H 0.960 91 0% 139 33.8% 0 - possibly_damaging(0.605) deleterious(0.04) deleterious(0.558) NULL BNC2 54796 genome.wustl.edu 37 9 16436006 16436006 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017637.5 -1 validated p.S729L 1.000 157 0% 159 33.3% 0 - possibly_damaging(0.832) deleterious(0.02) deleterious(0.700) NULL CNTLN 54875 genome.wustl.edu 37 9 17394760 17394760 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017738.2 +1 validated p.E770* 0.998 143 0% 137 38.7% 0 - - - - NULL SH3GL2 6456 genome.wustl.edu 37 9 17786519 17786519 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003026.2 +1 validated p.F110V 1.000 102 0% 94 27.7% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_BAR,HMMSmart_SM00721 ADAMTSL1 92949 genome.wustl.edu 37 9 18574118 18574118 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001040272.4 +1 validated p.P110T 1.000 141 0% 140 30.7% 2 0% probably_damaging(1) tolerated(0.14) deleterious(0.750) NULL LOC100292591 100292591 genome.wustl.edu 37 9 19032898 19032898 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002346181.1 +1 model p.S124L 0.995 55 0% 55 41.8% 0 - - - - NULL DENND4C 55667 genome.wustl.edu 37 9 19342736 19342736 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017925.4 +1 provisional p.P752L 1.000 134 0% 206 34% 3 33.3% probably_damaging(0.996) deleterious(0.03) deleterious(0.826) NULL DENND4C 55667 genome.wustl.edu 37 9 19346459 19346459 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017925.4 +1 provisional p.R946I 0.996 66 0% 91 19.8% 2 50% probably_damaging(0.991) tolerated(0.51) neutral(0.453) NULL DENND4C 55667 genome.wustl.edu 37 9 19371758 19371758 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017925.4 +1 provisional p.L1609V 1.000 189 0% 230 23.9% 4 0% benign(0.035) tolerated(0.37) neutral(0.021) NULL SLC24A2 25769 genome.wustl.edu 37 9 19786709 19786709 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020344.1 -1 provisional p.V52 0.991 159 0% 201 32.8% 0 - - - - NULL KIAA1797 54914 genome.wustl.edu 37 9 20990263 20990263 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017794.3 +1 validated p.L1716I 0.642 60 0% 80 35% 24 37.5% benign(0.212) tolerated(0.06) neutral(0.343) NULL PTPLAD2 401494 genome.wustl.edu 37 9 21015908 21015908 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001010915.3 -1 validated p.L124F 1.000 315 0% 279 28% 3 0% probably_damaging(0.954) deleterious(0.01) deleterious(0.803) HMMPfam_PTPLA IFNW1 3467 genome.wustl.edu 37 9 21141167 21141167 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002177.1 -1 provisional p.A135T 0.000 151 0% 233 28.8% 0 - benign(0.001) tolerated(0.92) - HMMPfam_Interferon,HMMSmart_IFabd,superfamily_4_helix_cytokine IFNW1 3467 genome.wustl.edu 37 9 21141398 21141398 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002177.1 -1 provisional p.D58Y 0.656 99 0% 132 34.1% 0 - benign(0.019) deleterious(0.03) neutral(0.365) HMMPfam_Interferon,HMMSmart_IFabd,superfamily_4_helix_cytokine IFNA21 3452 genome.wustl.edu 37 9 21166075 21166075 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002175.2 -1 validated p.K179N 0.000 268 0% 300 39.3% 0 - benign(0) tolerated(0.05) neutral(0.345) HMMPfam_Interferon,superfamily_4_helix_cytokine IFNA14 3448 genome.wustl.edu 37 9 21239653 21239653 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002172.2 -1 validated p.K94N 0.000 210 0% 190 34.2% 0 - benign(0.364) tolerated(0.07) neutral(0.435) HMMPfam_Interferon,HMMSmart_IFabd,superfamily_4_helix_cytokine KLHL9 55958 genome.wustl.edu 37 9 21334100 21334100 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018847.2 -1 validated p.Y253 0.901 224 0% 348 30.7% 4 25% - - - HMMPfam_BACK KLHL9 55958 genome.wustl.edu 37 9 21334621 21334621 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018847.2 -1 validated p.M80V 1.000 107 0% 145 29.7% 2 50% probably_damaging(0.961) deleterious(0.01) deleterious(0.810) HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB IFNA2 3440 genome.wustl.edu 37 9 21384921 21384921 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000605.3 -1 validated p.E136D 0.001 349 0% 331 32% 0 - benign(0.01) tolerated(0.09) neutral(0.297) HMMPfam_Interferon,HMMSmart_IFabd,superfamily_4_helix_cytokine IFNA2 3440 genome.wustl.edu 37 9 21385296 21385296 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000605.3 -1 validated p.L11 0.007 154 0% 149 34.2% 0 - - - - HMMPfam_Interferon LOC402360 402360 genome.wustl.edu 37 9 23682125 23682125 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002342894.1 +1 model p.K77N 1.000 29 0% 19 36.8% 0 - - - - NULL ELAVL2 1993 genome.wustl.edu 37 9 23762099 23762099 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004432.3 -1 reviewed p.Y45C 1.000 374 0% 282 29.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD IFT74 80173 genome.wustl.edu 37 9 26980596 26980596 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001099222.1 +1 validated p.S95Y 1.000 360 0% 474 29.1% 5 80% probably_damaging(0.995) deleterious(0.03) deleterious(0.822) NULL LRRC19 64922 genome.wustl.edu 37 9 26996331 26996331 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022901.2 -1 validated p.S254 0.015 175 0% 226 27.9% 0 - - - - NULL LRRC19 64922 genome.wustl.edu 37 9 26999611 26999611 + Splice_Site SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022901.2 -1 validated e1+1 1.000 104 0% 151 31.1% 0 - - - - - TEK 7010 genome.wustl.edu 37 9 27157910 27157910 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000459.3 +1 reviewed p.I45T 1.000 167 0% 226 37.6% 3 0% possibly_damaging(0.647) deleterious(0) deleterious(0.671) HMMPfam_Ig_Tie2_1 TEK 7010 genome.wustl.edu 37 9 27158095 27158095 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000459.3 +1 reviewed p.R107* 1.000 147 0% 290 34.5% 2 0% - - - HMMPfam_Ig_Tie2_1 TEK 7010 genome.wustl.edu 37 9 27192600 27192600 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000459.3 +1 reviewed p.R535C 0.411 99 0% 80 37.5% 4 0% possibly_damaging(0.909) tolerated(0.05) deleterious(0.708) superfamily_FN_III-like MOB3B 79817 genome.wustl.edu 37 9 27359143 27359143 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024761.3 -1 reviewed p.F170 1.000 172 0% 227 38.3% 1 0% - - - HMMPfam_Mob1_phocein,superfamily_Mob1_phocein IFNK 56832 genome.wustl.edu 37 9 27524880 27524880 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020124.2 +1 reviewed p.A182 0.997 92 0% 109 38.5% 0 - - - - HMMPfam_Interferon,HMMSmart_SM00076,PatternScan_INTERFERON_A_B_D,superfamily_4-helical cytokines C9orf72 203228 genome.wustl.edu 37 9 27567040 27567040 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018325.2 -1 validated p.A27T 1.000 105 0% 136 27.2% 1 0% possibly_damaging(0.913) deleterious(0.01) deleterious(0.770) NULL LINGO2 158038 genome.wustl.edu 37 9 27949465 27949465 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152570.1 -1 provisional p.S402Y 1.000 163 0% 170 34.7% 0 - possibly_damaging(0.903) tolerated(0.12) deleterious(0.619) HMMSmart_LRRCT LINGO2 158038 genome.wustl.edu 37 9 27950428 27950428 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152570.1 -1 provisional p.P81H 1.000 293 0% 327 29.1% 0 - possibly_damaging(0.44) tolerated(0.12) neutral(0.404) superfamily_SSF52058 LINGO2 158038 genome.wustl.edu 37 9 27950531 27950531 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152570.1 -1 provisional p.R47* 1.000 130 0% 148 33.8% 0 - - - - HMMPfam_LRRNT,HMMSmart_LRRNT,superfamily_SSF52058 LOC100288436 100288436 genome.wustl.edu 37 9 30559057 30559057 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002342887.1 -1 model p.K127N 0.012 284 0% 429 34% 10 0% - - - NULL LOC100288436 100288436 genome.wustl.edu 37 9 30559294 30559294 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002342887.1 -1 model p.E48D 0.054 105 0% 129 34.9% 4 0% - - - NULL DDX58 23586 genome.wustl.edu 37 9 32493845 32493845 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014314.3 -1 reviewed p.E113* 1.000 121 0% 99 24.2% 2 50% - - - NULL TOPORS 10210 genome.wustl.edu 37 9 32541770 32541770 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005802.3 -1 reviewed p.S918Y 0.967 170 0% 244 33.6% 26 46.1% possibly_damaging(0.689) deleterious(0) deleterious(0.691) NULL TOPORS 10210 genome.wustl.edu 37 9 32542508 32542508 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005802.3 -1 reviewed p.S672Y 0.978 265 0% 401 35.2% 4 25% unknown(0) deleterious(0.01) - NULL TOPORS 10210 genome.wustl.edu 37 9 32543046 32543046 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005802.3 -1 reviewed p.E493* 1.000 73 0% 123 37.4% 6 33.3% - - - NULL TAF1L 138474 genome.wustl.edu 37 9 32632360 32632360 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153809.2 -1 provisional p.S1073Y 1.000 370 0% 676 26% 1 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL TAF1L 138474 genome.wustl.edu 37 9 32633424 32633424 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153809.2 -1 provisional p.K718N 1.000 313 0% 519 33.3% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL TAF1L 138474 genome.wustl.edu 37 9 32635133 32635133 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153809.2 -1 provisional p.D149Y 1.000 544 0% 858 35.8% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL TMEM215 401498 genome.wustl.edu 37 9 32784343 32784343 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_212558.2 +1 validated p.I54 0.228 80 0% 104 20.2% 4 0% - - - NULL B4GALT1 2683 genome.wustl.edu 37 9 33113820 33113820 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001497.3 -1 reviewed p.R339H 1.000 122 0% 183 33.9% 61 37.7% possibly_damaging(0.435) deleterious(0.02) deleterious(0.525) HMMPfam_Galactosyl_T_2,superfamily_Nucleotide-diphospho-sugar transferases AQP7 364 genome.wustl.edu 37 9 33385233 33385233 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001170.1 -1 reviewed p.L267I 0.001 31 0% 42 38.1% 0 - benign(0.046) tolerated(0.32) neutral(0.026) HMMPfam_MIP,superfamily_MIP NOL6 65083 genome.wustl.edu 37 9 33465859 33465859 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022917.4 -1 reviewed p.R801W 1.000 39 0% 100 32% 29 44.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Nrap ANKRD18B 441459 genome.wustl.edu 37 9 33529160 33529160 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_001718334.2 +1 model p.A290T 0.993 260 0% 438 32% 0 - benign(0.145) deleterious(0.01) neutral(0.418) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat ANKRD18B 441459 genome.wustl.edu 37 9 33548089 33548089 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_001718334.2 +1 model p.E501K 0.050 91 0% 54 27.8% 0 - benign(0.04) tolerated(0.06) neutral(0.325) NULL ANKRD18B 441459 genome.wustl.edu 37 9 33548102 33548102 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_001718334.2 +1 model p.N505T 0.077 109 0% 77 33.8% 0 - possibly_damaging(0.873) tolerated(0.05) deleterious(0.684) NULL ANKRD18B 441459 genome.wustl.edu 37 9 33555786 33555786 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_001718334.2 +1 model p.K832N 0.747 151 0% 135 34.1% 0 - probably_damaging(0.98) tolerated(0.21) neutral(0.468) NULL ANKRD18B 441459 genome.wustl.edu 37 9 33558182 33558182 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_001718334.2 +1 model p.Q885H 0.326 84 0% 95 24.2% 0 - probably_damaging(0.983) tolerated(0.24) neutral(0.466) NULL PRSS3 5646 genome.wustl.edu 37 9 33797863 33797863 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007343.2 +1 reviewed p.K136N 0.036 238 0% 380 32.9% 0 - benign(0) tolerated(0.55) neutral(0.007) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases DNAI1 27019 genome.wustl.edu 37 9 34501143 34501143 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012144.2 +1 reviewed p.K343Q 1.000 320 0% 411 33.6% 0 - possibly_damaging(0.929) tolerated(0.5) neutral(0.386) superfamily_WD40_like DNAI1 27019 genome.wustl.edu 37 9 34517452 34517452 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012144.2 +1 reviewed p.R663H 1.000 143 0% 225 25.8% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ARID3C 138715 genome.wustl.edu 37 9 34622459 34622459 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001017363.1 -1 reviewed p.E311D 0.999 75 0% 114 29.8% 0 - benign(0.382) tolerated(0.15) neutral(0.363) NULL FAM205A 259308 genome.wustl.edu 37 9 34729359 34729359 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001141917.1 -1 validated p.F22L 0.094 148 0% 172 36% 0 - benign(0.075) tolerated(0.07) neutral(0.324) NULL FAM205B 389715 genome.wustl.edu 37 9 34837694 34837694 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000399773 -1 known p.R49 0.671 252 0% 430 34% 0 - - - - NULL KIAA1045 23349 genome.wustl.edu 37 9 34976631 34976631 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015297.1 +1 validated p.A248V 0.997 71 0% 58 34.5% 0 - possibly_damaging(0.903) tolerated(0.48) neutral(0.368) NULL FANCG 2189 genome.wustl.edu 37 9 35077293 35077293 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004629.1 -1 reviewed p.D205G 0.994 104 0% 171 30.4% 22 45.4% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL PIGO 84720 genome.wustl.edu 37 9 35095327 35095327 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032634.2 -1 reviewed p.R79Q 1.000 85 0% 121 27.3% 24 54.1% probably_damaging(0.956) deleterious(0.03) deleterious(0.764) HMMPfam_Phosphodiest,superfamily_Alkaline phosphatase-like FAM214B 80256 genome.wustl.edu 37 9 35106620 35106620 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025182.2 -1 predicted p.R325Q 1.000 53 0% 89 31.5% 51 47% possibly_damaging(0.951) deleterious(0.01) deleterious(0.800) NULL LOC730110 730110 genome.wustl.edu 37 9 35147801 35147801 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002342891.1 -1 model p.F436C 0.994 54 0% 56 37.5% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC730110 730110 genome.wustl.edu 37 9 35148515 35148515 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002342891.1 -1 model p.H223N 1.000 149 0% 163 31.3% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC730110 730110 genome.wustl.edu 37 9 35148697 35148697 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002342891.1 -1 model p.R162I 0.051 83 0% 72 31.9% 0 - - - - superfamily_C2H2 and C2HC zinc fingers TESK1 7016 genome.wustl.edu 37 9 35608405 35608405 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006285.2 +1 reviewed p.T300I 0.986 96 0% 178 31.5% 111 48.6% benign(0.025) tolerated(0.18) neutral(0.057) superfamily_Kinase_like SIT1 27240 genome.wustl.edu 37 9 35650778 35650778 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014450.2 -1 validated p.D25N 0.002 61 0% 88 28.4% 1 0% benign(0) tolerated(1) - NULL C9orf100 84904 genome.wustl.edu 37 9 35664110 35664110 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032818.2 -1 provisional p.K123T 0.974 110 0% 168 36.9% 5 40% probably_damaging(0.996) tolerated(0.16) deleterious(0.521) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) TLN1 7094 genome.wustl.edu 37 9 35698618 35698618 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006289.3 -1 reviewed p.S2395Y 1.000 69 0% 124 27.4% 249 24.8% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_I_LWEQ,HMMSmart_ILWEQ,superfamily_SSF109885 CREB3 10488 genome.wustl.edu 37 9 35736045 35736045 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006368.4 +1 reviewed p.L204 1.000 116 0% 206 34.5% 130 36.9% - - - HMMSmart_BRLZ,HMMPfam_bZIP_1 GBA2 57704 genome.wustl.edu 37 9 35738221 35738221 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000378088 -1 known p.S10L 0.000 199 0% 236 39.8% 9 66.6% benign(0.002) tolerated(0.75) neutral(0.002) NULL GBA2 57704 genome.wustl.edu 37 9 35740950 35740950 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020944.2 -1 reviewed p.D300N 0.998 115 0% 137 41.6% 30 33.3% probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL NPR2 4882 genome.wustl.edu 37 9 35802215 35802215 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003995.3 +1 reviewed p.A549T 1.000 293 0% 542 31.5% 8 50% benign(0.333) deleterious(0) deleterious(0.549) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase SPAG8 26206 genome.wustl.edu 37 9 35810025 35810025 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001039592.1 -1 reviewed p.E456D 0.002 223 0% 362 27.6% 0 - possibly_damaging(0.666) deleterious(0.04) deleterious(0.585) NULL C9orf128 392307 genome.wustl.edu 37 9 35818938 35818938 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000423537 -1 known p.E374K 0.992 82 0% 112 33% 0 - probably_damaging(1) tolerated(0.06) deleterious(0.823) NULL C9orf128 392307 genome.wustl.edu 37 9 35821617 35821617 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001012446.2 -1 validated p.R251W 0.026 176 0% 309 32% 0 - probably_damaging(0.993) - - NULL TMEM8B 51754 genome.wustl.edu 37 9 35846936 35846936 + Missense_Mutation SNP C C T rs181619999 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001042589.1 +1 provisional p.R255W 1.000 129 0% 279 32.3% 26 38.4% probably_damaging(1) tolerated(0.06) deleterious(0.823) NULL RECK 8434 genome.wustl.edu 37 9 36120698 36120698 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021111.2 +1 reviewed p.L835V 1.000 269 0.4% 495 31.5% 0 - probably_damaging(0.999) tolerated(0.43) deleterious(0.504) NULL GNE 10020 genome.wustl.edu 37 9 36227267 36227267 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001128227.1 -1 reviewed p.R451Q 1.000 96 0% 175 43.4% 2 0% possibly_damaging(0.71) deleterious(0) deleterious(0.701) HMMPfam_ROK,superfamily_SSF53067 GNE 10020 genome.wustl.edu 37 9 36233980 36233980 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001128227.1 -1 reviewed p.E338* 1.000 140 0% 277 33.2% 1 0% - - - HMMPfam_Epimerase_2,superfamily_SSF53756 RNF38 152006 genome.wustl.edu 37 9 36375992 36375992 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022781.4 -1 reviewed p.R99* 1.000 236 0% 548 34.7% 4 25% - - - NULL MELK 9833 genome.wustl.edu 37 9 36671156 36671156 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014791.2 +1 provisional p.R556I 0.966 83 0% 150 34% 29 37.9% benign(0.001) deleterious(0.05) neutral(0.345) superfamily_SSF103243 PAX5 5079 genome.wustl.edu 37 9 37015134 37015134 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016734.1 -1 reviewed p.V90 0.981 185 0% 245 28.2% 0 - - - - HMMPfam_PAX,HMMSmart_SM00351,superfamily_Homeodomain-like ZCCHC7 84186 genome.wustl.edu 37 9 37305580 37305580 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032226.2 +1 validated p.L274I 0.997 231 0% 356 32% 16 43.7% probably_damaging(0.998) tolerated(0.15) deleterious(0.716) HMMSmart_SM00343,superfamily_Retrovirus zinc finger-like domains ZBTB5 9925 genome.wustl.edu 37 9 37441148 37441148 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014872.2 -1 validated p.E467D 1.000 60 1.7% 103 36.9% 12 50% benign(0.003) tolerated(0.53) neutral(0.007) NULL ZBTB5 9925 genome.wustl.edu 37 9 37441761 37441761 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014872.2 -1 validated p.S263Y 0.881 31 0% 41 34.1% 12 50% benign(0.076) deleterious(0) neutral(0.450) NULL FRMPD1 22844 genome.wustl.edu 37 9 37692685 37692685 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014907.2 +1 validated p.R16I 1.000 93 0% 103 31.1% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL FRMPD1 22844 genome.wustl.edu 37 9 37745345 37745345 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014907.2 +1 validated p.G1106R 0.001 84 0% 165 36.4% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL RG9MTD3 158234 genome.wustl.edu 37 9 37763673 37763673 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144964.2 +1 validated p.D115Y 1.000 165 0.6% 318 31.1% 4 100% benign(0.044) deleterious(0.04) neutral(0.351) NULL DCAF10 79269 genome.wustl.edu 37 9 37842225 37842225 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024345.3 +1 validated p.T265A 1.000 219 0% 364 31.9% 5 100% possibly_damaging(0.942) tolerated(0.39) neutral(0.403) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 MCART1 92014 genome.wustl.edu 37 9 37878550 37878550 + RNA SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NR_024872.1 -1 validated NULL 1.000 16 0% 16 43.8% 0 - - - - - ANKRD18A 253650 genome.wustl.edu 37 9 38595677 38595677 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000399703 -1 known p.L554I 0.967 221 0% 162 37.7% 0 - possibly_damaging(0.649) tolerated(0.18) neutral(0.284) NULL ANKRD18A 253650 genome.wustl.edu 37 9 38596010 38596010 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000399703 -1 known p.E443K 0.799 356 0% 270 24.8% 0 - benign(0.001) tolerated(0.12) neutral(0.261) NULL CNTNAP3 79937 genome.wustl.edu 37 9 39175984 39175984 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033655.3 -1 reviewed p.E345K 1.000 193 0% 214 24.8% 1 0% benign(0.001) tolerated(0.12) neutral(0.261) NULL ZNF658 26149 genome.wustl.edu 37 9 40772250 40772250 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033160.5 -1 validated p.L1009F 0.091 203 0% 232 58.6% 0 - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF658 26149 genome.wustl.edu 37 9 40773216 40773216 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033160.5 -1 validated p.E687* 0.040 235 0% 318 22.3% 0 - - - - HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC389722 389722 genome.wustl.edu 37 9 43876106 43876106 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002342910.1 +1 model p.S733Y 1.000 89 0% 168 23.2% 0 - possibly_damaging(0.7) deleterious(0.02) deleterious(0.635) superfamily_Concanavalin A-like lectins/glucanases PGM5 5239 genome.wustl.edu 37 9 71098851 71098851 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021965.3 +1 validated p.D456Y 1.000 189 0% 234 30.3% 3 0% probably_damaging(0.973) deleterious(0) deleterious(0.859) superfamily_Phosphoglucomutase C-terminal domain C9orf71 169693 genome.wustl.edu 37 9 71152405 71152405 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153237.1 -1 provisional p.D95Y 1.000 123 0% 133 33.1% 0 - possibly_damaging(0.882) deleterious(0.02) deleterious(0.728) NULL FAM122A 116224 genome.wustl.edu 37 9 71395637 71395637 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138333.3 +1 validated p.R186I 1.000 163 0% 208 38% 7 42.8% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL PRKACG 5568 genome.wustl.edu 37 9 71628130 71628130 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002732.3 -1 reviewed p.K293N 1.000 102 0% 161 29.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase FXN 2395 genome.wustl.edu 37 9 71687531 71687531 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_181425.2 +1 reviewed p.D165G 0.032 95 0% 198 32.8% 21 42.8% unknown(0) deleterious(0) - NULL FAM189A2 9413 genome.wustl.edu 37 9 71992657 71992657 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001127608.1 +1 validated p.R164H 1.000 169 0% 197 39.1% 0 - probably_damaging(0.999) tolerated(0.29) deleterious(0.519) NULL APBA1 320 genome.wustl.edu 37 9 72071289 72071289 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001163.3 -1 reviewed p.I554 0.947 102 0% 133 36.1% 0 - - - - HMMPfam_PID,HMMSmart_PTB,superfamily_SSF50729 APBA1 320 genome.wustl.edu 37 9 72131013 72131013 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001163.3 -1 reviewed p.D372N 1.000 59 0% 33 45.5% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL APBA1 320 genome.wustl.edu 37 9 72131316 72131316 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001163.3 -1 reviewed p.D271N 1.000 9 0.000 9 0.444 0 - possibly_damaging(0.825) deleterious(0.02) deleterious(0.696) NULL PTAR1 375743 genome.wustl.edu 37 9 72365750 72365750 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001099666.1 -1 validated p.V68A 1.000 271 0% 205 29.8% 4 25% possibly_damaging(0.685) tolerated(1) neutral(0.244) superfamily_Prenyl_trans C9orf135 138255 genome.wustl.edu 37 9 72520869 72520869 + Splice_Site SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001010940.1 +1 validated e6-1 0.954 273 0% 190 32.6% 0 - - - - - MAMDC2 256691 genome.wustl.edu 37 9 72840671 72840671 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153267.4 +1 validated p.I639M 0.997 140 0% 156 42.3% 1 0% benign(0.332) deleterious(0.01) deleterious(0.510) HMMPfam_MAM,HMMSmart_SM00137 SMC5 23137 genome.wustl.edu 37 9 72962882 72962882 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015110.3 +1 validated p.I939M 0.993 73 0% 71 38% 5 40% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SMC_N,superfamily_SSF52540 SMC5 23137 genome.wustl.edu 37 9 72965054 72965054 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015110.3 +1 validated p.R972* 1.000 91 0% 96 37.5% 4 25% - - - HMMPfam_SMC_N,superfamily_SSF52540 TRPM3 80036 genome.wustl.edu 37 9 73151925 73151925 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001007471.2 -1 reviewed p.I1356M 1.000 92 1.1% 159 34.6% 0 - benign(0.063) tolerated(0.16) neutral(0.064) NULL TRPM3 80036 genome.wustl.edu 37 9 73230915 73230915 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001007471.2 -1 reviewed p.S800Y 1.000 411 0% 604 35.1% 0 - benign(0.067) deleterious(0) neutral(0.449) NULL TMEM2 23670 genome.wustl.edu 37 9 74360063 74360063 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013390.2 -1 validated p.R302I 0.908 170 0% 197 35.5% 2 50% benign(0.141) tolerated(0.1) neutral(0.298) NULL TMEM2 23670 genome.wustl.edu 37 9 74360134 74360134 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013390.2 -1 validated p.K278N 0.298 181 0% 224 35.7% 0 - benign(0.03) tolerated(0.19) neutral(0.051) NULL FAM108B1 51104 genome.wustl.edu 37 9 74481882 74481882 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016014.2 -1 validated p.I230L 1.000 151 0% 227 30.4% 12 41.6% benign(0.325) deleterious(0.04) neutral(0.451) superfamily_SSF53474 FAM108B1 51104 genome.wustl.edu 37 9 74489764 74489764 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016014.2 -1 validated p.R78I 1.000 192 0% 325 33.8% 8 75% possibly_damaging(0.671) deleterious(0.04) deleterious(0.587) superfamily_SSF53474 GDA 9615 genome.wustl.edu 37 9 74817493 74817493 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004293.3 +1 validated p.F73L 1.000 135 0% 173 62.4% 0 - probably_damaging(1) tolerated(0.19) deleterious(0.549) HMMPfam_Amidohydro_1 ZFAND5 7763 genome.wustl.edu 37 9 74975575 74975575 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001102420.1 -1 validated p.R40S 0.995 180 0% 220 31.4% 54 11.1% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ALDH1A1 216 genome.wustl.edu 37 9 75531955 75531955 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000689.3 -1 reviewed p.A306T 1.000 186 0% 164 30.5% 54 48.1% possibly_damaging(0.908) deleterious(0.02) deleterious(0.744) HMMPfam_Aldedh,PatternScan_ALDEHYDE_DEHYDR_CYS,superfamily_ALDH-like RORB 6096 genome.wustl.edu 37 9 77277507 77277507 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006914.3 +1 reviewed p.L293I 0.463 158 0% 264 27.3% 0 - benign(0.002) tolerated(0.52) neutral(0.009) HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain TRPM6 140803 genome.wustl.edu 37 9 77354917 77354917 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017662.4 -1 reviewed p.E1737* 1.000 81 0% 86 37.2% 0 - - - - superfamily_Protein kinase-like (PK-like) TRPM6 140803 genome.wustl.edu 37 9 77357489 77357489 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017662.4 -1 reviewed p.V1730F 0.985 180 0% 258 27.9% 0 - benign(0.162) deleterious(0) neutral(0.459) superfamily_Protein kinase-like (PK-like) TRPM6 140803 genome.wustl.edu 37 9 77397304 77397304 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017662.4 -1 reviewed p.M1061I 1.000 128 0% 226 35% 0 - possibly_damaging(0.887) deleterious(0.01) deleterious(0.752) HMMPfam_Ion_trans TRPM6 140803 genome.wustl.edu 37 9 77470454 77470454 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017662.4 -1 reviewed p.Q47H 0.999 220 0% 283 32.2% 0 - unknown(0) tolerated(0.15) - NULL PCSK5 5125 genome.wustl.edu 37 9 78682955 78682955 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006200.3 +1 reviewed p.I239 0.980 67 0% 79 36.7% 6 33.3% - - - HMMPfam_Peptidase_S8,superfamily_Subtilisin-like RFK 55312 genome.wustl.edu 37 9 79003486 79003486 + Missense_Mutation SNP C C A rs76023381 byFrequency;by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000376736 -1 known p.K107N 1.000 112 0% 209 29.2% 21 42.8% benign(0.262) tolerated(0.3) neutral(0.056) HMMPfam_Flavokinase,superfamily_Riboflavin_kinase GCNT1 2650 genome.wustl.edu 37 9 79117308 79117308 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001097633.1 +1 reviewed p.T4M 0.094 70 0% 132 28% 11 72.7% benign(0.113) deleterious(0.03) neutral(0.373) NULL PRUNE2 158471 genome.wustl.edu 37 9 79320039 79320039 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015225.2 -1 validated p.S2384Y 0.001 107 0% 134 29.9% 0 - possibly_damaging(0.513) deleterious(0) deleterious(0.617) NULL PRUNE2 158471 genome.wustl.edu 37 9 79324898 79324898 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015225.2 -1 validated p.D764E 1.000 126 0% 157 35.7% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL PRUNE2 158471 genome.wustl.edu 37 9 79328557 79328557 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015225.2 -1 validated p.F279L 1.000 110 0% 157 28.7% 0 - benign(0) tolerated(0.59) neutral(0.004) superfamily_SSF64182 VPS13A 23230 genome.wustl.edu 37 9 79896801 79896801 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033305.2 +1 reviewed p.D975N 0.003 162 0% 168 32.1% 0 - benign(0.001) tolerated(0.31) neutral(0.027) NULL VPS13A 23230 genome.wustl.edu 37 9 79922876 79922876 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033305.2 +1 reviewed p.E1326* 1.000 123 0% 190 29.5% 0 - - - - NULL VPS13A 23230 genome.wustl.edu 37 9 79959119 79959119 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033305.2 +1 reviewed p.V2359 0.971 158 0.6% 206 30.1% 1 100% - - - HMMPfam_DUF1162 PSAT1 29968 genome.wustl.edu 37 9 80943058 80943058 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_058179.2 +1 reviewed p.L321I 0.999 122 0% 176 31.2% 40 42.5% benign(0.036) tolerated(0.12) neutral(0.263) HMMPfam_Aminotran_5,superfamily_PLP-dependent transferases TLE4 7091 genome.wustl.edu 37 9 82323521 82323521 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007005.3 +1 validated p.R361S 0.998 144 0% 181 24.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL TLE4 7091 genome.wustl.edu 37 9 82339958 82339958 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007005.3 +1 validated p.E741* 1.000 269 0% 274 28.5% 6 33.3% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like TLE1 7088 genome.wustl.edu 37 9 84205842 84205842 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005077.3 -1 provisional p.E569D 1.000 75 0% 68 32.4% 43 16.2% probably_damaging(0.979) tolerated(0.09) deleterious(0.718) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 TLE1 7088 genome.wustl.edu 37 9 84230908 84230908 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005077.3 -1 provisional p.E303* 1.000 96 0% 155 38.7% 16 12.5% - - - NULL FAM75D1 389763 genome.wustl.edu 37 9 84607918 84607918 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001001670.2 +1 validated p.R845* 0.000 277 0% 389 31.4% 0 - - - - NULL KIF27 55582 genome.wustl.edu 37 9 86495329 86495329 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017576.1 -1 provisional p.E842D 1.000 429 0.2% 677 30.1% 6 33.3% probably_damaging(0.998) tolerated(0.07) deleterious(0.793) NULL KIF27 55582 genome.wustl.edu 37 9 86504013 86504013 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017576.1 -1 provisional p.E655D 0.999 101 0% 165 24.2% 1 0% possibly_damaging(0.442) tolerated(0.06) neutral(0.467) NULL RMI1 80010 genome.wustl.edu 37 9 86617688 86617688 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024945.2 +1 validated p.F596C 0.998 133 0% 201 36.8% 5 40% probably_damaging(0.993) deleterious(0.01) deleterious(0.856) NULL SLC28A3 64078 genome.wustl.edu 37 9 86914553 86914553 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022127.1 -1 provisional p.F204 0.899 122 0% 218 29.4% 0 - - - - HMMPfam_Nucleos_tra2_N NTRK2 4915 genome.wustl.edu 37 9 87325662 87325662 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006180.3 +1 reviewed p.S180I 0.999 210 0% 281 31.7% 0 - benign(0.367) deleterious(0.01) deleterious(0.522) HMMSmart_LRRCT,superfamily_SSF52058 NTRK2 4915 genome.wustl.edu 37 9 87636169 87636169 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006180.3 +1 reviewed p.V778 1.000 70 0% 75 38.7% 0 - - - - HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like AGTPBP1 23287 genome.wustl.edu 37 9 88203388 88203388 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015239.2 -1 validated p.R870C 1.000 140 0% 118 34.7% 10 40% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Peptidase_M14,superfamily_SSF53187 NAA35 60560 genome.wustl.edu 37 9 88633239 88633239 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024635.3 +1 validated p.R615W 1.000 164 0% 227 33.9% 36 47.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZCCHC6 79670 genome.wustl.edu 37 9 88934576 88934576 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024617.3 -1 validated p.S1013Y 1.000 165 0% 113 30.1% 2 50% probably_damaging(0.98) deleterious(0) deleterious(0.869) superfamily_Nucleotidyltransferase DAPK1 1612 genome.wustl.edu 37 9 90219902 90219902 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004938.2 +1 reviewed p.E32D 1.000 55 0% 85 34.1% 1 0% benign(0.006) tolerated(0.39) neutral(0.016) HMMSmart_S_TKc,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase DAPK1 1612 genome.wustl.edu 37 9 90266526 90266526 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004938.2 +1 reviewed p.D571N 0.999 202 0% 282 29.4% 1 100% benign(0.382) tolerated(0.71) neutral(0.123) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK DAPK1 1612 genome.wustl.edu 37 9 90321757 90321757 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004938.2 +1 reviewed p.F1257L 1.000 25 0% 20 25% 10 20% probably_damaging(0.971) tolerated(0.22) neutral(0.455) NULL CTSL1 1514 genome.wustl.edu 37 9 90343513 90343513 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001912.4 +1 reviewed p.S137Y 1.000 367 0% 647 31.7% 86 2.3% probably_damaging(1) deleterious(0) deleterious(0.945) PatternScan_THIOL_PROTEASE_CYS,HMMPfam_Peptidase_C1,HMMSmart_Pept_C1,superfamily_SSF54001 C9orf79 286234 genome.wustl.edu 37 9 90498920 90498920 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178828.4 +1 validated p.R108I 0.000 125 0% 129 34.1% 0 - possibly_damaging(0.618) deleterious(0.03) deleterious(0.580) NULL C9orf79 286234 genome.wustl.edu 37 9 90500180 90500180 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178828.4 +1 validated p.D260N 0.000 111 0% 160 27.5% 0 - possibly_damaging(0.916) tolerated(0.06) deleterious(0.690) NULL C9orf79 286234 genome.wustl.edu 37 9 90501328 90501328 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178828.4 +1 validated p.G642 0.000 45 0% 66 31.8% 0 - - - - NULL C9orf79 286234 genome.wustl.edu 37 9 90502338 90502338 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178828.4 +1 validated p.S979F 0.000 31 0% 45 17.8% 0 - probably_damaging(0.957) deleterious(0.01) deleterious(0.806) NULL FAM75C1 441452 genome.wustl.edu 37 9 90538068 90538068 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145124.1 +1 validated p.S1082 0.002 221 0% 334 28.7% 0 - - - - NULL SPIN1 10927 genome.wustl.edu 37 9 91090172 91090172 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006717.2 +1 validated p.D257N 1.000 116 0% 145 37.2% 14 42.8% benign(0.169) tolerated(0.21) neutral(0.059) HMMPfam_Spin-Ssty S1PR3 1903 genome.wustl.edu 37 9 91616554 91616554 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005226.2 +1 reviewed p.D147N 0.930 142 0% 201 31.8% 7 0% benign(0.017) tolerated(1) neutral(0.001) HMMPfam_7tm_1,superfamily_SSF81321 SHC3 53358 genome.wustl.edu 37 9 91653055 91653055 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016848.4 -1 validated p.E503D 1.000 117 0% 143 32.2% 0 - possibly_damaging(0.432) tolerated(0.37) neutral(0.160) HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain SHC3 53358 genome.wustl.edu 37 9 91657061 91657061 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016848.4 -1 validated p.H414Y 0.000 169 0% 176 25% 0 - benign(0) tolerated(1) - NULL DIRAS2 54769 genome.wustl.edu 37 9 93375522 93375522 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017594.3 -1 validated p.C196 0.772 263 0% 365 34% 0 - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases NFIL3 4783 genome.wustl.edu 37 9 94171922 94171922 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005384.2 -1 validated p.L365 0.003 91 0% 183 32.2% 17 23.5% - - - HMMPfam_Vert_IL3-reg_TF NFIL3 4783 genome.wustl.edu 37 9 94172202 94172202 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005384.2 -1 validated p.P272L 0.995 108 0% 235 37% 19 10.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Vert_IL3-reg_TF SPTLC1 10558 genome.wustl.edu 37 9 94809461 94809461 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006415.2 -1 reviewed p.E358D 1.000 242 0% 324 28.7% 35 31.4% benign(0) tolerated(0.21) neutral(0.044) HMMPfam_Aminotran_1_2,superfamily_PLP-dependent transferases NOL8 55035 genome.wustl.edu 37 9 95078394 95078394 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017948.5 -1 validated p.Y171 1.000 207 0% 383 35.8% 6 16.6% - - - NULL OGN 4969 genome.wustl.edu 37 9 95163452 95163452 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014057.3 -1 reviewed p.I64L 0.010 367 0% 455 32.5% 0 - benign(0.002) tolerated(0.12) neutral(0.261) superfamily_L domain-like ECM2 1842 genome.wustl.edu 37 9 95263287 95263287 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001393.2 -1 reviewed p.P551 0.969 213 0% 405 36% 1 0% - - - superfamily_SSF52058 ECM2 1842 genome.wustl.edu 37 9 95272235 95272235 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001393.2 -1 reviewed p.E418* 1.000 174 0% 214 28% 0 - - - - HMMPfam_LRR_1,superfamily_SSF52058 ENSG00000218940 0 genome.wustl.edu 37 9 95584491 95584491 + Splice_Site SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000375504 +1 known e6-1 0.016 76 0% 56 37.5% 0 - - - - - ZNF484 83744 genome.wustl.edu 37 9 95608934 95608934 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031486.1 -1 provisional p.R712I 1.000 91 0% 142 33.8% 1 100% possibly_damaging(0.828) tolerated(0.11) deleterious(0.586) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 FGD3 89846 genome.wustl.edu 37 9 95772641 95772641 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001083536.1 +1 validated p.D317 0.123 16 0% 39 30.8% 16 18.7% - - - HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) FGD3 89846 genome.wustl.edu 37 9 95778087 95778087 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001083536.1 +1 validated p.E417D 1.000 101 0% 129 35.7% 21 38% probably_damaging(0.994) tolerated(0.12) deleterious(0.713) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like SUSD3 203328 genome.wustl.edu 37 9 95840164 95840164 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145006.2 +1 provisional p.A105V 0.998 80 0% 98 37.8% 4 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL PTPDC1 138639 genome.wustl.edu 37 9 96859815 96859815 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152422.3 +1 reviewed p.R321C 1.000 107 0% 229 33.2% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL HIATL1 84641 genome.wustl.edu 37 9 97221498 97221498 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032558.2 +1 validated p.S442Y 1.000 278 0% 390 29.7% 20 30% possibly_damaging(0.893) deleterious(0) deleterious(0.796) superfamily_MFS_gen_substrate_transporter FBP2 8789 genome.wustl.edu 37 9 97349706 97349706 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003837.2 -1 reviewed p.K72N 1.000 134 0% 214 35% 0 - probably_damaging(0.976) deleterious(0) deleterious(0.863) HMMPfam_FBPase,superfamily_SSF56655 C9orf3 84909 genome.wustl.edu 37 9 97823040 97823040 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032823.3 +1 provisional p.R628Q 0.001 202 0.5% 229 41% 45 6.6% benign(0.206) tolerated(0.22) neutral(0.062) HMMPfam_Leuk-A4-hydro_C,superfamily_ARM-type_fold FANCC 2176 genome.wustl.edu 37 9 97897778 97897778 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000136.2 -1 reviewed p.K231N 1.000 95 0% 104 34.6% 4 50% possibly_damaging(0.45) deleterious(0.01) deleterious(0.553) HMMPfam_Fanconi_C PTCH1 5727 genome.wustl.edu 37 9 98218603 98218603 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000264.3 -1 reviewed p.I1087 0.640 110 0% 118 34.7% 15 13.3% - - - HMMPfam_Patched,superfamily_SSF82866 PTCH1 5727 genome.wustl.edu 37 9 98239054 98239054 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000264.3 -1 reviewed p.R530I 1.000 214 0% 342 32.5% 10 40% possibly_damaging(0.62) tolerated(0.05) deleterious(0.561) HMMPfam_Patched,superfamily_SSF82866 PTCH1 5727 genome.wustl.edu 37 9 98242810 98242810 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000264.3 -1 reviewed p.K269N 1.000 279 0% 317 33.4% 5 80% probably_damaging(0.999) tolerated(0.71) deleterious(0.492) HMMPfam_Patched C9orf102 375748 genome.wustl.edu 37 9 98669477 98669477 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001010895.2 +1 validated p.R249C 1.000 187 0% 206 28.2% 0 - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMPfam_SNF2_N,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases C9orf102 375748 genome.wustl.edu 37 9 98683470 98683470 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001010895.2 +1 validated p.S402Y 1.000 242 0% 234 35% 0 - benign(0.378) tolerated(0.07) neutral(0.440) HMMPfam_SNF2_N HABP4 22927 genome.wustl.edu 37 9 99250529 99250529 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014282.2 +1 validated p.E386D 0.936 274 0% 628 33% 36 41.6% possibly_damaging(0.794) tolerated(0.48) neutral(0.308) NULL CDC14B 8555 genome.wustl.edu 37 9 99284842 99284842 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033331.2 -1 reviewed p.R430I 1.000 185 0% 342 30.4% 12 58.3% possibly_damaging(0.947) deleterious(0) deleterious(0.835) NULL ZNF510 22869 genome.wustl.edu 37 9 99522531 99522531 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014930.1 -1 provisional p.R194I 0.171 85 0% 66 22.7% 1 0% possibly_damaging(0.928) tolerated(0.31) neutral(0.403) NULL ZNF782 158431 genome.wustl.edu 37 9 99580535 99580535 + Nonsense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001001662.1 -1 provisional p.Y590* 0.017 213 0% 292 31.5% 0 - - - - HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF782 158431 genome.wustl.edu 37 9 99580812 99580812 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001001662.1 -1 provisional p.R498I 0.998 200 0% 233 37.3% 3 0% possibly_damaging(0.859) deleterious(0) deleterious(0.776) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF782 158431 genome.wustl.edu 37 9 99580913 99580913 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000289032 -1 known p.P453S 0.996 220 0% 233 33% 3 33.3% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers FAM22G 441457 genome.wustl.edu 37 9 99697721 99697721 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001045477.2 +1 validated p.F275L 0.298 100 0% 156 25.6% 0 - possibly_damaging(0.902) deleterious(0) deleterious(0.801) NULL FAM22G 441457 genome.wustl.edu 37 9 99700776 99700776 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000372322 +1 known p.P524H 0.001 115 0% 169 16.6% 0 - possibly_damaging(0.597) tolerated(0.36) neutral(0.226) NULL HIATL2 84278 genome.wustl.edu 37 9 99721176 99721176 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000375223 -1 known p.L70I 0.999 259 0% 397 27.7% 21 42.8% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_MFS_gen_substrate_transporter C9orf174 100499483 genome.wustl.edu 37 9 100128850 100128850 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020893.1 +1 predicted p.R1342C 0.981 72 0% 147 24.5% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TDRD7 23424 genome.wustl.edu 37 9 100201579 100201579 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014290.2 +1 validated p.T206A 0.984 170 0.6% 113 38.1% 0 - benign(0) tolerated(0.71) neutral(0.002) NULL TDRD7 23424 genome.wustl.edu 37 9 100234642 100234642 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014290.2 +1 validated p.I603 1.000 181 0% 181 33.7% 6 33.3% - - - NULL NCBP1 4686 genome.wustl.edu 37 9 100426648 100426648 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002486.4 +1 reviewed p.M608I 1.000 268 0% 395 30.1% 47 53.1% benign(0.114) tolerated(0.05) neutral(0.354) HMMPfam_MIF4G_like_2,superfamily_ARM-type_fold NCBP1 4686 genome.wustl.edu 37 9 100426660 100426660 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002486.4 +1 reviewed p.Q612 1.000 280 0% 399 30.1% 49 36.7% - - - HMMPfam_MIF4G_like_2,superfamily_ARM-type_fold XPA 7507 genome.wustl.edu 37 9 100437716 100437716 + RNA SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NR_027302.1 -1 reviewed NULL 0.344 116 0% 106 35.8% 10 40% - - - - XPA 7507 genome.wustl.edu 37 9 100451889 100451889 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000380.3 -1 reviewed p.E106K 1.000 208 0% 279 28% 2 0% benign(0.155) tolerated(0.31) neutral(0.041) HMMPfam_XPA_N,PatternScan_XPA_1,superfamily_SSF57716 NANS 54187 genome.wustl.edu 37 9 100845299 100845299 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018946.3 +1 reviewed p.E348* 1.000 84 0% 166 29.5% 126 46.8% - - - superfamily_AFP III-like domain (Pfam 01354),HMMPfam_SAF TRIM14 9830 genome.wustl.edu 37 9 100862360 100862360 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014788.2 -1 reviewed p.K130N 1.000 226 0% 328 36.6% 0 - possibly_damaging(0.917) deleterious(0.01) deleterious(0.774) NULL COL15A1 1306 genome.wustl.edu 37 9 101788222 101788222 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001855.3 +1 reviewed p.G673S 0.973 115 0% 232 31.9% 18 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Collagen COL15A1 1306 genome.wustl.edu 37 9 101829215 101829215 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001855.3 +1 reviewed p.F1235V 1.000 173 0% 287 33.1% 56 0% benign(0.105) - - HMMPfam_Endostatin,superfamily_C-type_lectin_fold TEX10 54881 genome.wustl.edu 37 9 103092330 103092330 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017746.3 -1 validated p.E458* 1.000 246 0% 329 29.2% 10 40% - - - NULL TEX10 54881 genome.wustl.edu 37 9 103102638 103102638 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017746.3 -1 validated p.R384Q 1.000 185 0% 227 30% 11 45.4% probably_damaging(0.999) tolerated(0.31) deleterious(0.517) NULL TEX10 54881 genome.wustl.edu 37 9 103109630 103109630 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017746.3 -1 validated p.G80E 1.000 45 0% 54 31.5% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM-type_fold MSANTD3 91283 genome.wustl.edu 37 9 103213136 103213136 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_080655.1 +1 predicted p.I239T 1.000 90 0% 198 35.4% 30 46.6% possibly_damaging(0.922) deleterious(0.01) deleterious(0.777) NULL TMEFF1 8577 genome.wustl.edu 37 9 103278987 103278987 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003692.3 +1 validated p.R165I 1.000 169 0% 282 35.8% 3 66.6% possibly_damaging(0.849) tolerated(0.07) deleterious(0.645) NULL ENSG00000251349 0 genome.wustl.edu 37 9 103312405 103312405 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000502978 +1 known p.E210* 1.000 199 0.5% 268 34.7% 10 20% probably_damaging(0.99) deleterious(0.02) deleterious(0.825) NULL MURC 347273 genome.wustl.edu 37 9 103348116 103348116 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001018116.1 +1 validated p.D160Y 0.006 82 0% 118 27.1% 1 0% unknown(0) deleterious(0.04) - NULL MURC 347273 genome.wustl.edu 37 9 103348192 103348192 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001018116.1 +1 validated p.A185V 0.765 94 0% 167 40.1% 0 - possibly_damaging(0.647) tolerated(0.17) neutral(0.286) NULL ZNF189 7743 genome.wustl.edu 37 9 104171309 104171309 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003452.2 +1 validated p.R420I 1.000 63 0% 55 34.5% 5 60% benign(0.198) tolerated(0.11) neutral(0.291) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers C9orf125 84302 genome.wustl.edu 37 9 104238267 104238267 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032342.1 -1 provisional p.L370 0.073 108 0.9% 176 35.8% 12 91.6% - - - NULL RNF20 56254 genome.wustl.edu 37 9 104314501 104314501 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019592.5 +1 reviewed p.R496I 0.992 163 0% 217 30.4% 25 32% unknown(0) deleterious(0) - NULL GRIN3A 116443 genome.wustl.edu 37 9 104341579 104341579 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_133445.2 -1 reviewed p.L944M 0.037 343 0.3% 371 34.8% 1 0% benign(0.019) deleterious(0.01) neutral(0.407) HMMPfam_Lig_chan CYLC2 1539 genome.wustl.edu 37 9 105767430 105767430 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001340.3 +1 reviewed p.D173Y 0.017 202 0% 393 30.5% 0 - unknown(0) deleterious(0.04) - NULL CYLC2 1539 genome.wustl.edu 37 9 105767844 105767844 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001340.3 +1 reviewed p.E311* 0.005 172 0% 296 29.1% 0 - - - - NULL SMC2 10592 genome.wustl.edu 37 9 106878523 106878523 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001042550.1 +1 validated p.R572* 1.000 133 0% 155 37.4% 2 50% - - - HMMPfam_SMC_N,HMMPfam_SMC_hinge,superfamily_Smc hinge domain,superfamily_P-loop containing nucleoside triphosphate hydrolases OR13C4 138804 genome.wustl.edu 37 9 107289160 107289160 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001001919.1 -1 provisional p.E111* 0.840 146 0% 229 32.8% 0 - - - - HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 OR13C5 138799 genome.wustl.edu 37 9 107361217 107361217 + Missense_Mutation SNP T T C rs61735925 byCluster;byFrequency TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004482.1 -1 provisional p.T160A 0.000 193 0% 215 26.5% 0 - benign(0.092) deleterious(0.03) neutral(0.371) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ABCA1 19 genome.wustl.edu 37 9 107555122 107555122 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005502.2 -1 reviewed p.R1901I 1.000 287 0% 331 32% 7 28.5% possibly_damaging(0.768) deleterious(0) deleterious(0.730) NULL ABCA1 19 genome.wustl.edu 37 9 107584900 107584900 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005502.2 -1 reviewed p.Q902R 1.000 132 0% 158 36.1% 1 100% benign(0.002) tolerated(0.91) - superfamily_P-loop containing nucleoside triphosphate hydrolases FKTN 2218 genome.wustl.edu 37 9 108397408 108397408 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001079802.1 +1 reviewed p.E417K 0.316 202 0% 318 27% 4 50% benign(0.002) tolerated(0.28) neutral(0.032) HMMPfam_LicD TAL2 6887 genome.wustl.edu 37 9 108425068 108425068 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005421.2 +1 reviewed p.Q97H 0.001 37 0% 66 39.4% 0 - benign(0.345) tolerated(0.19) neutral(0.159) NULL ZNF462 58499 genome.wustl.edu 37 9 109688180 109688180 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021224.4 +1 validated p.L663I 1.000 178 0% 267 31.5% 1 100% possibly_damaging(0.892) deleterious(0) deleterious(0.796) superfamily_beta-sandwich domain of Sec23/24 KLF4 9314 genome.wustl.edu 37 9 110249589 110249589 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004235.4 -1 validated p.P362 0.948 100 0% 142 28.9% 22 36.3% - - - NULL CTNNAL1 8727 genome.wustl.edu 37 9 111732758 111732758 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003798.2 -1 provisional p.R455Q 0.998 140 0% 163 31.9% 38 47.3% probably_damaging(0.995) tolerated(0.43) deleterious(0.471) superfamily_alpha-catenin/vinculin FRRS1L 23732 genome.wustl.edu 37 9 111899779 111899779 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014334.2 -1 validated p.L331M 1.000 84 0% 176 29% 0 - probably_damaging(0.964) deleterious(0) deleterious(0.851) NULL EPB41L4B 54566 genome.wustl.edu 37 9 111976099 111976099 + Splice_Site SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019114.3 -1 validated e17-1 0.999 115 0% 167 36.5% 0 - - - - - PALM2 114299 genome.wustl.edu 37 9 112705127 112705127 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_053016.5 +1 validated p.V222I 0.289 88 0% 233 27.9% 0 - benign(0.002) tolerated(0.52) neutral(0.009) HMMPfam_Paralemmin PALM2-AKAP2 445815 genome.wustl.edu 37 9 112899505 112899505 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007203.4 +1 validated p.F561V 1.000 30 0% 43 48.8% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SVEP1 79987 genome.wustl.edu 37 9 113168920 113168920 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153366.3 -1 validated p.R2987I 0.998 87 0% 129 34.9% 7 0% probably_damaging(0.99) tolerated(0.78) neutral(0.443) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain SVEP1 79987 genome.wustl.edu 37 9 113170608 113170608 + Silent SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153366.3 -1 validated p.P2424 0.798 91 0% 127 24.4% 13 0% - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain SVEP1 79987 genome.wustl.edu 37 9 113173745 113173745 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153366.3 -1 validated p.F2082L 1.000 50 0% 64 32.8% 4 0% possibly_damaging(0.882) tolerated(0.68) neutral(0.346) superfamily_Complement control module/SCR domain SVEP1 79987 genome.wustl.edu 37 9 113173803 113173803 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153366.3 -1 validated p.A2063V 1.000 52 0% 86 31.4% 5 0% probably_damaging(0.991) tolerated(0.16) deleterious(0.504) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain MUSK 4593 genome.wustl.edu 37 9 113530173 113530173 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005592.3 +1 reviewed p.D332Y 0.753 95 0% 106 24.5% 0 - benign(0.241) tolerated(0.1) neutral(0.311) HMMPfam_Fz MUSK 4593 genome.wustl.edu 37 9 113562709 113562709 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005592.3 +1 reviewed p.S684Y 0.026 80 0% 109 34.9% 0 - benign(0.034) deleterious(0.01) neutral(0.408) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) KIAA0368 23392 genome.wustl.edu 37 9 114134715 114134715 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080398.1 -1 provisional p.V1686I 1.000 93 0% 126 34.1% 51 31.3% benign(0.243) tolerated(0.08) neutral(0.325) superfamily_ARM repeat KIAA0368 23392 genome.wustl.edu 37 9 114156007 114156007 + Missense_Mutation SNP A A T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080398.1 -1 provisional p.L1155H 1.000 61 0% 120 30% 18 44.4% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) superfamily_ARM repeat KIAA0368 23392 genome.wustl.edu 37 9 114184241 114184241 + Missense_Mutation SNP C C T rs146690306 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080398.1 -1 provisional p.R650Q 0.998 196 0% 220 32.7% 10 50% benign(0.029) tolerated(0.55) neutral(0.009) superfamily_ARM repeat KIAA0368 23392 genome.wustl.edu 37 9 114184307 114184307 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080398.1 -1 provisional p.R628Q 1.000 196 0% 206 34% 10 30% probably_damaging(1) tolerated(0.11) deleterious(0.772) superfamily_ARM repeat ZNF483 158399 genome.wustl.edu 37 9 114296129 114296129 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_133464.2 +1 validated p.R204 0.426 91 0% 204 33.8% 0 - - - - HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box C9orf84 158401 genome.wustl.edu 37 9 114500562 114500562 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173521.3 -1 validated p.E408G 0.218 143 0% 212 36.8% 0 - possibly_damaging(0.882) deleterious(0) deleterious(0.789) NULL C9orf84 158401 genome.wustl.edu 37 9 114548272 114548272 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000374283 -1 known p.R30Q 0.102 178 0% 231 33.3% 0 - probably_damaging(0.986) tolerated(0.34) neutral(0.458) NULL KIAA1958 158405 genome.wustl.edu 37 9 115337223 115337223 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_133465.2 +1 predicted p.S288Y 1.000 175 0% 235 34.9% 1 0% possibly_damaging(0.685) deleterious(0) deleterious(0.689) NULL SNX30 401548 genome.wustl.edu 37 9 115598544 115598544 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001012994.1 +1 validated p.G223 0.152 76 0% 114 32.5% 4 75% - - - NULL SLC46A2 57864 genome.wustl.edu 37 9 115652644 115652644 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033051.3 -1 validated p.K106N 1.000 47 0% 68 30.9% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_MFS_1,superfamily_MFS general substrate transporter ZFP37 7539 genome.wustl.edu 37 9 115805169 115805169 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003408.1 -1 provisional p.E577K 0.867 405 0% 344 33.7% 1 100% probably_damaging(0.997) tolerated(0.15) deleterious(0.707) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZFP37 7539 genome.wustl.edu 37 9 115805792 115805792 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003408.1 -1 provisional p.R369I 1.000 115 0% 81 37% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMSmart_ZnF_C2H2,superfamily_SSF57667 PRPF4 9128 genome.wustl.edu 37 9 116046587 116046587 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004697.3 +1 provisional p.F224V 1.000 123 0% 224 35.7% 22 45.4% benign(0.051) tolerated(0.18) neutral(0.059) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 WDR31 114987 genome.wustl.edu 37 9 116080895 116080895 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001012361.1 -1 reviewed p.R268Q 0.299 136 0% 270 25.2% 0 - benign(0.018) tolerated(0.35) neutral(0.021) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 BSPRY 54836 genome.wustl.edu 37 9 116132221 116132221 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017688.2 +1 validated p.F336L 1.000 61 0% 104 35.6% 28 46.4% probably_damaging(0.987) tolerated(0.37) neutral(0.456) HMMPfam_SPRY,HMMSmart_SM00449 POLE3 54107 genome.wustl.edu 37 9 116171188 116171188 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017443.4 -1 validated p.S116* 0.811 602 0.2% 1255 35.6% 33 39.3% - - - superfamily_Histone-fold C9orf43 257169 genome.wustl.edu 37 9 116175883 116175883 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152786.1 +1 predicted p.R37Q 0.991 111 0% 180 31.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL COL27A1 85301 genome.wustl.edu 37 9 116931158 116931158 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032888.2 +1 validated p.R441 0.003 158 0% 288 36.1% 0 - - - - NULL COL27A1 85301 genome.wustl.edu 37 9 117050997 117050997 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032888.2 +1 validated p.R1354* 1.000 181 0% 209 28.7% 0 - - - - NULL ORM1 5004 genome.wustl.edu 37 9 117086053 117086053 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000607.2 +1 reviewed p.E75 0.000 257 0% 464 27.2% 0 - - - - HMMPfam_Lipocalin,superfamily_Calycin AKNA 80709 genome.wustl.edu 37 9 117129848 117129848 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030767.4 -1 validated p.S568Y 0.998 30 0% 23 39.1% 4 0% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL AKNA 80709 genome.wustl.edu 37 9 117138677 117138677 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000394574 -1 known p.G470 0.001 28 0% 56 42.9% 0 - - - - NULL LOC100288716 100288716 genome.wustl.edu 37 9 117266785 117266785 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002342950.1 +1 model p.R191W 0.987 28 0% 28 35.7% 11 45.4% - - - NULL TNC 3371 genome.wustl.edu 37 9 117838314 117838314 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002160.2 -1 validated p.T983A 1.000 157 0% 174 35.1% 128 50.7% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_FN_III-like TNC 3371 genome.wustl.edu 37 9 117849520 117849520 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002160.2 -1 validated p.R164W 0.842 42 0% 62 30.6% 72 37.5% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL TNC 3371 genome.wustl.edu 37 9 117853102 117853102 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002160.2 -1 validated p.V66L 1.000 123 0% 148 30.4% 48 41.6% probably_damaging(0.99) tolerated(0.06) deleterious(0.764) NULL ASTN2 23245 genome.wustl.edu 37 9 119188259 119188259 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198187.3 -1 reviewed p.F1297L 1.000 136 0% 127 29.9% 1 0% benign(0.235) tolerated(0.67) neutral(0.026) NULL TRIM32 22954 genome.wustl.edu 37 9 119461819 119461819 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001099679.1 +1 reviewed p.L600I 1.000 215 0% 250 31.6% 17 41.1% probably_damaging(0.991) tolerated(0.16) deleterious(0.504) HMMPfam_NHL,superfamily_SSF101898 TLR4 7099 genome.wustl.edu 37 9 120475079 120475079 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138554.3 +1 reviewed p.E225* 0.031 89 0% 43 30.2% 1 100% - - - HMMSmart_SM00369,superfamily_L domain-like TLR4 7099 genome.wustl.edu 37 9 120475265 120475265 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138554.3 +1 reviewed p.E287* 0.772 90 0% 62 37.1% 1 100% - - - superfamily_L domain-like TLR4 7099 genome.wustl.edu 37 9 120475379 120475379 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138554.3 +1 reviewed p.D325Y 0.000 81 0% 68 30.9% 0 - benign(0) tolerated(0.11) neutral(0.272) superfamily_L domain-like TLR4 7099 genome.wustl.edu 37 9 120475949 120475949 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138554.3 +1 reviewed p.A515T 0.014 202 0% 127 30.7% 1 100% benign(0.004) tolerated(0.31) neutral(0.027) HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00365,superfamily_L domain-like TLR4 7099 genome.wustl.edu 37 9 120476172 120476172 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138554.3 +1 reviewed p.S589N 0.000 224 0% 154 42.9% 3 0% benign(0) tolerated(0.99) - HMMSmart_SM00082,superfamily_L domain-like TLR4 7099 genome.wustl.edu 37 9 120476598 120476598 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138554.3 +1 reviewed p.R731Q 1.000 136 0% 123 33.3% 6 16.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TIR,HMMSmart_SM00255,superfamily_Toll/Interleukin receptor TIR domain DBC1 1620 genome.wustl.edu 37 9 121930271 121930271 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014618.2 -1 validated p.G459 0.995 133 0% 124 35.5% 0 - - - - NULL CDK5RAP2 55755 genome.wustl.edu 37 9 123201897 123201897 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018249.4 -1 reviewed p.E1168* 1.000 201 0% 224 34.4% 6 16.6% - - - NULL CDK5RAP2 55755 genome.wustl.edu 37 9 123253735 123253735 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018249.4 -1 reviewed p.E444D 1.000 227 0% 285 34% 7 85.7% probably_damaging(0.99) tolerated(0.08) deleterious(0.742) NULL MEGF9 1955 genome.wustl.edu 37 9 123370051 123370051 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080497.1 -1 provisional p.V479A 0.583 136 0% 176 24.4% 1 0% benign(0.002) deleterious(0.03) neutral(0.364) HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,HMMSmart_SM00181,superfamily_Growth factor receptor domain PSMD5 5711 genome.wustl.edu 37 9 123589136 123589136 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005047.2 -1 reviewed p.R241* 1.000 92 0% 145 29.7% 6 0% - - - superfamily_ARM-type_fold,HMMPfam_Proteasom_PSMB TRAF1 7185 genome.wustl.edu 37 9 123667503 123667503 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005658.3 -1 reviewed p.L349P 1.000 56 0% 114 33.3% 5 20% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MATH,HMMSmart_SM00061,superfamily_TRAF domain-like C5 727 genome.wustl.edu 37 9 123782259 123782259 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001735.2 -1 reviewed p.Y501D 1.000 174 0% 189 31.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_A2M_N_2 CNTRL 11064 genome.wustl.edu 37 9 123850681 123850681 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007018.4 +1 reviewed p.S26Y 0.977 249 0% 432 31.7% 0 - probably_damaging(0.995) tolerated(0.07) deleterious(0.776) NULL CNTRL 11064 genome.wustl.edu 37 9 123857202 123857202 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007018.4 +1 reviewed p.V129L 1.000 161 0% 266 33.8% 0 - benign(0.104) tolerated(0.07) neutral(0.327) HMMPfam_LRR_1,HMMSmart_SM00365,superfamily_L domain-like CNTRL 11064 genome.wustl.edu 37 9 123875841 123875841 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007018.4 +1 reviewed p.R395I 1.000 99 0% 87 32.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL STOM 2040 genome.wustl.edu 37 9 124111449 124111449 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004099.4 -1 validated p.K158N 1.000 230 0% 292 31.8% 25 4% probably_damaging(0.981) deleterious(0.04) deleterious(0.774) HMMPfam_Band_7,HMMSmart_PHB TTLL11 158135 genome.wustl.edu 37 9 124736324 124736324 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001139442.1 -1 validated p.R572H 1.000 173 0% 205 31.7% 2 100% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_TTL LHX6 26468 genome.wustl.edu 37 9 124988681 124988681 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014368.3 -1 reviewed p.E145D 0.993 28 0% 25 28% 1 0% benign(0.273) tolerated(0.28) neutral(0.060) HMMPfam_LIM,HMMSmart_LIM,superfamily_SSF57716 RBM18 92400 genome.wustl.edu 37 9 125014177 125014177 + Silent SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033117.3 -1 validated p.A63 0.998 133 0% 205 25.4% 15 33.3% - - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD OR1N1 138883 genome.wustl.edu 37 9 125288936 125288936 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012363.1 -1 provisional p.V213I 0.001 102 0% 125 28% 0 - possibly_damaging(0.766) tolerated(0.47) neutral(0.295) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR1N1 138883 genome.wustl.edu 37 9 125289339 125289339 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012363.1 -1 provisional p.K78N 0.498 158 0% 243 35% 0 - possibly_damaging(0.779) deleterious(0.01) deleterious(0.697) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR1N1 138883 genome.wustl.edu 37 9 125289539 125289539 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012363.1 -1 provisional p.L12I 0.057 66 0% 112 38.4% 0 - probably_damaging(0.979) deleterious(0.01) deleterious(0.828) superfamily_Family A G protein-coupled receptor-like OR1L8 138881 genome.wustl.edu 37 9 125329986 125329986 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004454.1 -1 provisional p.F257L 0.000 69 0% 166 28.3% 0 - benign(0.114) tolerated(0.47) neutral(0.020) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR1L1 26737 genome.wustl.edu 37 9 125423896 125423896 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005236.3 +1 validated p.A18T 0.006 79 0% 81 37% 0 - benign(0.002) - - NULL OR1L1 26737 genome.wustl.edu 37 9 125423953 125423953 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005236.3 +1 validated p.I37V 0.000 122 0.8% 136 32.4% 0 - benign(0.235) deleterious(0.01) neutral(0.429) NULL OR1L1 26737 genome.wustl.edu 37 9 125424830 125424830 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005236.3 +1 validated p.V329A 0.012 161 0.6% 214 32.2% 0 - benign(0.348) tolerated(0.07) neutral(0.429) HMMPfam_7tm_1,superfamily_SSF81321 OR1L3 26735 genome.wustl.edu 37 9 125438156 125438156 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005234.1 +1 provisional p.L250M 0.004 203 0% 257 32.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR5C1 392391 genome.wustl.edu 37 9 125552054 125552054 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001001923.1 +1 provisional p.F281L 0.997 95 0% 145 31% 0 - benign(0.203) deleterious(0.01) neutral(0.425) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like RC3H2 54542 genome.wustl.edu 37 9 125612078 125612078 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001100588.1 -1 validated p.P1135L 1.000 105 0% 145 26.2% 3 33.3% benign(0.2) deleterious(0) neutral(0.464) NULL ZBTB6 10773 genome.wustl.edu 37 9 125673694 125673694 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006626.4 -1 provisional p.L220I 1.000 82 0% 128 37.5% 2 50% benign(0.028) tolerated(0.15) neutral(0.242) NULL GPR21 2844 genome.wustl.edu 37 9 125797697 125797697 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005294.1 +1 provisional p.F284 0.731 106 0% 148 24.3% 2 0% - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like STRBP 55342 genome.wustl.edu 37 9 125898377 125898377 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018387.4 -1 validated p.E572D 1.000 289 0% 254 31.1% 47 46.8% unknown(0) deleterious(0) - HMMPfam_dsrm,HMMSmart_SM00358,superfamily_dsRNA-binding domain-like STRBP 55342 genome.wustl.edu 37 9 125921443 125921443 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018387.4 -1 validated p.R256K 1.000 131 0% 145 36.6% 25 44% probably_damaging(0.964) tolerated(0.16) neutral(0.466) HMMPfam_DZF,HMMSmart_SM00572 STRBP 55342 genome.wustl.edu 37 9 125922743 125922743 + Splice_Site SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018387.4 -1 validated e6-2 1.000 85 0% 81 28.4% 0 - - - - - CRB2 286204 genome.wustl.edu 37 9 126136934 126136934 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173689.5 +1 validated p.A1156T 0.941 43 0% 80 36.2% 0 - benign(0.009) tolerated(0.28) neutral(0.032) HMMSmart_SM00181,superfamily_EGF/Laminin GPR144 347088 genome.wustl.edu 37 9 127239300 127239300 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000334810 +1 known p.S938N 0.005 219 0% 318 32.1% 0 - unknown(0) deleterious(0) - NULL NR6A1 2649 genome.wustl.edu 37 9 127289152 127289152 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033334.2 -1 reviewed p.I369 0.917 93 0% 136 36% 1 0% - - - HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain NR6A1 2649 genome.wustl.edu 37 9 127302467 127302467 + Splice_Site SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033334.2 -1 reviewed e5-1 1.000 194 0% 241 34% 0 - - - - - NR6A1 2649 genome.wustl.edu 37 9 127306128 127306128 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033334.2 -1 reviewed p.E132* 1.000 119 0% 132 34.8% 0 - - - - HMMPfam_zf-C4,superfamily_Nuclear receptor ligand-binding domain,superfamily_Glucocorticoid receptor-like (DNA-binding domain) OLFML2A 169611 genome.wustl.edu 37 9 127572682 127572682 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182487.2 +1 validated p.F650 0.871 59 0% 118 42.4% 0 - - - - HMMPfam_OLF,HMMSmart_SM00284 GOLGA1 2800 genome.wustl.edu 37 9 127644812 127644812 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002077.3 -1 reviewed p.R648W 0.932 57 0% 71 32.4% 3 33.3% probably_damaging(0.986) deleterious(0) deleterious(0.879) NULL PPP6C 5537 genome.wustl.edu 37 9 127951937 127951937 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001123355.1 -1 reviewed p.E21* 1.000 40 0% 66 31.8% 19 36.8% - - - NULL HSPA5 3309 genome.wustl.edu 37 9 128001785 128001785 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005347.3 -1 validated p.A174T 1.000 122 0% 287 29.3% 1179 42.9% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_HSP70,superfamily_Actin-like ATPase domain ZBTB34 403341 genome.wustl.edu 37 9 129641995 129641995 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001099270.1 +1 validated p.F102S 1.000 36 0% 71 33.8% 3 100% probably_damaging(0.979) deleterious(0.01) deleterious(0.828) HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB GARNL3 84253 genome.wustl.edu 37 9 130104557 130104557 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032293.4 +1 validated p.T399A 1.000 259 0% 304 29.9% 0 - benign(0.098) deleterious(0) neutral(0.452) HMMPfam_Rap_GAP,superfamily_Rap/Ran-GAP (Pfam 02145) GARNL3 84253 genome.wustl.edu 37 9 130147366 130147366 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032293.4 +1 validated p.V777A 1.000 62 0% 104 37.5% 2 50% possibly_damaging(0.94) deleterious(0.01) deleterious(0.790) HMMPfam_CNH,HMMSmart_SM00036 LRSAM1 90678 genome.wustl.edu 37 9 130245234 130245234 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005373.1 +1 validated p.R365I 1.000 243 0% 423 26.7% 10 50% possibly_damaging(0.805) deleterious(0.01) deleterious(0.709) NULL STXBP1 6812 genome.wustl.edu 37 9 130432199 130432199 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003165.3 +1 reviewed p.D309Y 1.000 182 0% 233 28.3% 11 36.3% benign(0.394) deleterious(0) deleterious(0.571) HMMPfam_Sec1,superfamily_Sec1/munc18-like (SM) proteins SH2D3C 10044 genome.wustl.edu 37 9 130502055 130502055 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_170600.2 -1 validated p.H771 0.018 18 0% 32 40.6% 11 0% - - - HMMSmart_SM00147 SH2D3C 10044 genome.wustl.edu 37 9 130513568 130513568 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_170600.2 -1 validated p.E189D 1.000 61 0% 140 32.1% 3 0% benign(0.032) tolerated(0.56) neutral(0.008) NULL ST6GALNAC6 30815 genome.wustl.edu 37 9 130648957 130648957 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013443.3 -1 provisional p.R308H 1.000 263 0.4% 519 33.9% 42 19% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glyco_transf_29 ST6GALNAC6 30815 genome.wustl.edu 37 9 130658538 130658538 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013443.3 -1 provisional p.E34* 1.000 226 0% 425 32% 11 9% - - - HMMPfam_Glyco_transf_29 SLC25A25 114789 genome.wustl.edu 37 9 130863393 130863393 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001006641.1 +1 validated p.D94Y 1.000 121 0% 311 35% 6 33.3% probably_damaging(0.987) deleterious(0) deleterious(0.881) HMMSmart_EFh,HMMPfam_efhand,superfamily_SSF47473 GOLGA2 2801 genome.wustl.edu 37 9 131024956 131024956 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004486.4 -1 reviewed p.E313D 0.996 146 0% 326 29.4% 48 39.5% benign(0.113) tolerated(0.7) neutral(0.011) NULL COQ4 51117 genome.wustl.edu 37 9 131094467 131094467 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016035.3 +1 validated p.F146 0.969 40 0% 77 35.1% 56 19.6% - - - HMMPfam_Coq4 TMSB4XP4 7118 genome.wustl.edu 37 9 131104641 131104641 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000323496 +1 known p.S44L 0.995 16 0% 50 24% 6 16.6% probably_damaging(1) - - NULL ODF2 4957 genome.wustl.edu 37 9 131255048 131255048 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002540.3 +1 reviewed p.K548N 1.000 163 0% 329 26.1% 75 38.6% possibly_damaging(0.925) tolerated(0.29) neutral(0.403) NULL ODF2 4957 genome.wustl.edu 37 9 131256868 131256868 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002540.3 +1 reviewed p.A587V 0.917 56 0% 110 29.1% 90 41.1% benign(0.055) tolerated(0.15) neutral(0.244) NULL GLE1 2733 genome.wustl.edu 37 9 131285061 131285061 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001003722.1 +1 reviewed p.E183* 1.000 70 0% 147 32% 9 11.1% - - - NULL SPTAN1 6709 genome.wustl.edu 37 9 131340417 131340417 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001130438.1 +1 validated p.D372Y 1.000 85 0% 128 29.7% 25 12% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin SPTAN1 6709 genome.wustl.edu 37 9 131394744 131394744 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001130438.1 +1 validated p.E2332* 1.000 58 0% 141 40.4% 105 13.3% - - - HMMSmart_EFh,HMMPfam_efhand,superfamily_SSF47473 SPTAN1 6709 genome.wustl.edu 37 9 131394965 131394965 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001130438.1 +1 validated p.F2376 1.000 38 0% 66 31.8% 149 13.4% - - - HMMSmart_EFh,HMMPfam_efhand,superfamily_SSF47473 ZER1 10444 genome.wustl.edu 37 9 131513773 131513773 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006336.2 -1 provisional p.F319L 1.000 134 0% 246 30.9% 32 46.8% benign(0.011) tolerated(0.87) neutral(0.001) NULL C9orf114 51490 genome.wustl.edu 37 9 131591390 131591390 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016390.2 -1 validated p.Q27H 1.000 183 0% 371 31.8% 14 35.7% probably_damaging(0.961) deleterious(0.01) deleterious(0.810) NULL LRRC8A 56262 genome.wustl.edu 37 9 131670316 131670316 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001127244.1 +1 reviewed p.F291 0.995 92 0% 253 34.4% 45 51.1% - - - NULL DOLK 22845 genome.wustl.edu 37 9 131709350 131709350 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014908.3 -1 reviewed p.N78S 1.000 66 0% 85 27.1% 23 65.2% probably_damaging(0.979) deleterious(0) deleterious(0.867) NULL PPP2R4 5524 genome.wustl.edu 37 9 131882823 131882823 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178001.1 +1 reviewed p.Q21H 0.960 87 0% 131 31.3% 57 38.5% benign(0) tolerated(0.7) neutral(0.002) NULL FNBP1 23048 genome.wustl.edu 37 9 132719700 132719700 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015033.2 -1 reviewed p.A151V 1.000 167 0% 323 31.3% 7 14.2% possibly_damaging(0.767) deleterious(0.04) deleterious(0.633) NULL GPR107 57720 genome.wustl.edu 37 9 132838715 132838715 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001136557.1 +1 validated p.K94Q 0.994 304 0% 648 35.5% 13 53.8% possibly_damaging(0.951) tolerated(0.39) neutral(0.410) NULL LAMC3 10319 genome.wustl.edu 37 9 133907465 133907465 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006059.3 +1 reviewed p.L238I 0.998 163 0% 243 39.9% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Laminin_N,HMMSmart_LamNT LAMC3 10319 genome.wustl.edu 37 9 133951327 133951327 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006059.3 +1 reviewed p.E1202* 0.968 34 0% 61 21.3% 0 - - - - NULL LAMC3 10319 genome.wustl.edu 37 9 133952632 133952632 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006059.3 +1 reviewed p.P1230S 0.004 40 0% 51 35.3% 0 - benign(0.156) tolerated(0.29) neutral(0.043) NULL NUP214 8021 genome.wustl.edu 37 9 134073232 134073232 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005085.2 +1 reviewed p.P1451S 0.000 91 0% 170 44.1% 24 45.8% possibly_damaging(0.477) tolerated(0.56) neutral(0.164) NULL PRRC2B 84726 genome.wustl.edu 37 9 134321959 134321959 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013318.3 +1 validated p.R262Q 1.000 117 0% 289 36.7% 11 18.1% probably_damaging(0.997) tolerated(0.45) deleterious(0.478) NULL POMT1 10585 genome.wustl.edu 37 9 134385745 134385745 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000372221 +1 known p.L64I 0.950 124 0% 240 30.4% 10 40% benign(0.071) tolerated(0.43) neutral(0.018) NULL RAPGEF1 2889 genome.wustl.edu 37 9 134463344 134463344 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000414781 -1 known p.L283I 1.000 94 0% 130 29.2% 7 0% - - - HMMPfam_RasGEF,superfamily_Ras GEF SETX 23064 genome.wustl.edu 37 9 135145066 135145066 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015046.5 -1 reviewed p.L2408S 1.000 161 0% 292 33.2% 11 9% probably_damaging(0.98) deleterious(0) deleterious(0.869) superfamily_P-loop containing nucleoside triphosphate hydrolases SETX 23064 genome.wustl.edu 37 9 135150654 135150654 + Silent SNP G G A rs141497098 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015046.5 -1 reviewed p.F2363 1.000 294 0% 364 29.1% 13 61.5% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases SETX 23064 genome.wustl.edu 37 9 135173493 135173493 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015046.5 -1 reviewed p.L1919V 0.006 139 0% 249 30.9% 10 10% benign(0.344) deleterious(0.02) deleterious(0.491) NULL SETX 23064 genome.wustl.edu 37 9 135205090 135205090 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015046.5 -1 reviewed p.R632I 0.003 140 0% 264 31.4% 3 0% benign(0.029) deleterious(0) neutral(0.446) NULL DDX31 64794 genome.wustl.edu 37 9 135470417 135470417 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022779.7 -1 reviewed p.D798N 0.000 179 0% 222 42.8% 8 25% benign(0) tolerated(0.54) neutral(0.007) NULL DDX31 64794 genome.wustl.edu 37 9 135522326 135522326 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022779.7 -1 reviewed p.A468S 0.000 88 0% 123 30.9% 9 55.5% benign(0.013) tolerated(0.45) neutral(0.013) superfamily_P-loop containing nucleoside triphosphate hydrolases GTF3C4 9329 genome.wustl.edu 37 9 135554886 135554886 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012204.2 +1 validated p.S627Y 0.651 97 0% 108 23.1% 20 40% possibly_damaging(0.74) deleterious(0.04) deleterious(0.620) NULL TMEM8C 389827 genome.wustl.edu 37 9 136389838 136389838 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080483.2 -1 validated p.F43 0.998 63 0% 71 29.6% 0 - - - - NULL DBH 1621 genome.wustl.edu 37 9 136512992 136512992 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000787.3 +1 reviewed p.R350H 1.000 113 0% 206 34.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_PHM_PNGase_F DBH 1621 genome.wustl.edu 37 9 136521701 136521701 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000787.3 +1 reviewed p.Q497H 0.994 50 0% 76 44.7% 1 0% benign(0.394) tolerated(0.13) neutral(0.379) superfamily_PHM_PNGase_F,HMMPfam_Cu2_monoox_C COL5A1 1289 genome.wustl.edu 37 9 137582831 137582831 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000093.3 +1 reviewed p.F61 0.979 63 0% 94 23.4% 9 0% - - - HMMSmart_TSPN,superfamily_ConA_like_lec_gl COL5A1 1289 genome.wustl.edu 37 9 137622285 137622285 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000093.3 +1 reviewed p.I376 0.050 40 0% 22 36.4% 37 2.7% - - - NULL COL5A1 1289 genome.wustl.edu 37 9 137623968 137623968 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000093.3 +1 reviewed p.E462K 1.000 173 0% 252 37.3% 21 0% unknown(0) deleterious(0.01) - NULL COL5A1 1289 genome.wustl.edu 37 9 137630649 137630649 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000093.3 +1 reviewed p.E497* 1.000 112 0% 111 45% 25 0% - - - HMMPfam_Collagen FCN2 2220 genome.wustl.edu 37 9 137774464 137774464 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004108.2 +1 reviewed p.A65T 0.949 83 0% 85 32.9% 0 - benign(0.002) tolerated(0.46) neutral(0.012) HMMPfam_Collagen OLFM1 10439 genome.wustl.edu 37 9 137967613 137967613 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006334.3 +1 reviewed p.L21I 1.000 61 0% 53 18.9% 0 - unknown(0) - - NULL OBP2A 29991 genome.wustl.edu 37 9 138439772 138439772 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000342114 +1 known p.L67I 0.000 60 0% 52 23.1% 0 - possibly_damaging(0.875) tolerated(0.9) neutral(0.340) NULL PAEP 5047 genome.wustl.edu 37 9 138454716 138454716 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001018049.1 +1 reviewed p.N96S 0.000 139 0% 206 34.5% 0 - possibly_damaging(0.892) tolerated(0.44) neutral(0.364) HMMPfam_Lipocalin,superfamily_Lipocalins SOHLH1 402381 genome.wustl.edu 37 9 138585455 138585455 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001101677.1 -1 validated p.F384L 0.074 57 0% 55 38.2% 0 - possibly_damaging(0.945) deleterious(0) deleterious(0.834) NULL SOHLH1 402381 genome.wustl.edu 37 9 138590844 138590844 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001101677.1 -1 validated p.R65H 0.975 31 0% 18 27.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HLH,HMMSmart_SM00353,superfamily_HLH helix-loop-helix DNA-binding domain KCNT1 57582 genome.wustl.edu 37 9 138651585 138651585 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020822.2 +1 validated p.F305L 1.000 104 0% 103 30.1% 0 - benign(0.001) tolerated(1) - HMMPfam_Ion_trans_2,superfamily_SSF81324 CAMSAP1 157922 genome.wustl.edu 37 9 138754444 138754444 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015447.3 -1 validated p.R226Q 1.000 66 0% 147 38.8% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Calponin-homology domain CH-domain CAMSAP1 157922 genome.wustl.edu 37 9 138773508 138773508 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015447.3 -1 validated p.E186K 1.000 157 0% 265 32.8% 6 16.6% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Calponin-homology domain CH-domain CAMSAP1 157922 genome.wustl.edu 37 9 138774925 138774925 + Splice_Site SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015447.3 -1 validated e2-1 1.000 89 0% 158 44.9% 0 - - - - - LHX3 8022 genome.wustl.edu 37 9 139092546 139092546 + Missense_Mutation SNP T T C rs137854506 TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014564.2 -1 reviewed p.K50E 1.000 61 0% 61 36.1% 0 - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_LIM,HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,superfamily_Glucocorticoid receptor-like (DNA-binding domain) QSOX2 169714 genome.wustl.edu 37 9 139103194 139103194 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_181701.3 -1 validated p.E489* 0.994 170 0% 224 36.6% 3 33.3% - - - HMMPfam_Evr1_Alr,superfamily_Evr1_Alr CARD9 64170 genome.wustl.edu 37 9 139264979 139264979 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_052813.4 -1 reviewed p.V268I 0.001 33 0% 31 22.6% 3 0% benign(0) tolerated(0.79) neutral(0.001) NULL SEC16A 9919 genome.wustl.edu 37 9 139369263 139369263 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014866.1 -1 validated p.E935D 0.001 71 0% 223 38.1% 24 37.5% unknown(0) tolerated(0.41) - NULL NOTCH1 4851 genome.wustl.edu 37 9 139390733 139390733 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017617.3 -1 reviewed p.S2486 0.652 38 0% 72 34.7% 14 14.2% - - - NULL NOTCH1 4851 genome.wustl.edu 37 9 139409974 139409974 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017617.3 -1 reviewed p.D622N 0.668 73 0% 85 44.7% 3 33.3% possibly_damaging(0.568) tolerated(0.2) neutral(0.243) PatternScan_ASX_HYDROXYL,HMMSmart_EGF_CA,HMMPfam_EGF,PatternScan_EGF_CA,superfamily_SSF57196 LCN8 138307 genome.wustl.edu 37 9 139650800 139650800 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000392896 -1 known p.F35L 0.256 26 0% 47 27.7% 1 0% - - - NULL FBXW5 54461 genome.wustl.edu 37 9 139837071 139837071 + Silent SNP G G T rs2292926 byCluster;byFrequency;by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018998.2 -1 reviewed p.L201 0.802 21 0% 34 47.1% 101 38.6% - - - superfamily_WD40 repeat-like C8G 733 genome.wustl.edu 37 9 139841140 139841140 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000606.2 +1 validated p.D198 0.963 60 0% 63 33.3% 0 - - - - superfamily_Calycin GRIN1 2902 genome.wustl.edu 37 9 140036545 140036545 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007327.3 +1 reviewed p.F113L 1.000 228 0% 610 31.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I GRIN1 2902 genome.wustl.edu 37 9 140051426 140051426 + Missense_Mutation SNP C C G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007327.3 +1 reviewed p.T302S 1.000 15 0.000 9 0.444 0 - benign(0.097) tolerated(0.56) neutral(0.014) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I EXD3 54932 genome.wustl.edu 37 9 140243727 140243727 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017820.3 -1 validated p.D555 0.690 22 0% 24 54.2% 4 25% - - - HMMPfam_3_5_exonuc,HMMSmart_35EXOc,superfamily_RNaseH_fold NELF 26012 genome.wustl.edu 37 9 140350900 140350900 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001130969.1 -1 reviewed p.L223I 1.000 101 0% 226 31.4% 28 28.5% possibly_damaging(0.712) tolerated(0.16) neutral(0.317) NULL PNPLA7 375775 genome.wustl.edu 37 9 140354922 140354922 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001098537.1 -1 validated p.E1318K 0.014 30 0% 56 39.3% 4 0% possibly_damaging(0.806) tolerated(0.25) neutral(0.340) NULL PNPLA7 375775 genome.wustl.edu 37 9 140437885 140437885 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001098537.1 -1 validated p.R169W 0.926 41 0% 83 31.3% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_cAMP-binding domain-like PNPLA7 375775 genome.wustl.edu 37 9 140441761 140441761 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001098537.1 -1 validated p.R65* 0.460 74 0% 183 32.2% 0 - - - - NULL WDR85 92715 genome.wustl.edu 37 9 140450084 140450084 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138778.2 -1 provisional p.A322 0.000 48 0% 61 37.7% 41 31.7% - - - superfamily_WD40_like EHMT1 79813 genome.wustl.edu 37 9 140622832 140622832 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000460843 +1 known p.R225Q 0.364 143 0% 342 28.1% 13 38.4% probably_damaging(0.997) tolerated(0.53) deleterious(0.474) NULL EHMT1 79813 genome.wustl.edu 37 9 140637978 140637978 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000460843 +1 known p.K327E 1.000 88 0% 187 29.9% 22 50% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL EHMT1 79813 genome.wustl.edu 37 9 140712560 140712560 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000460843 +1 known p.E1170D 0.950 206 0% 335 37.3% 64 34.3% benign(0) tolerated(1) - HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain CACNA1B 774 genome.wustl.edu 37 9 140865908 140865908 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000718.2 +1 validated p.K469 1.000 225 0% 346 33.5% 0 - - - - NULL CACNA1B 774 genome.wustl.edu 37 9 140952676 140952676 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000718.2 +1 validated p.S1428P 1.000 389 0% 646 33.1% 0 - probably_damaging(0.996) deleterious(0.05) deleterious(0.807) NULL CACNA1B 774 genome.wustl.edu 37 9 141006878 141006878 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000718.2 +1 validated p.A1819 0.981 111 0% 162 32.1% 0 - - - - NULL FAM157B 100132403 genome.wustl.edu 37 9 141109830 141109830 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145249.1 +1 inferred p.F153L 0.021 221 0% 336 32.7% 0 - - - - NULL DIP2C 22982 genome.wustl.edu 37 10 329301 329301 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014974.2 -1 reviewed p.R1402I 0.627 205 0% 357 30.5% 5 20% possibly_damaging(0.904) deleterious(0) deleterious(0.803) HMMPfam_AMP-binding,superfamily_SSF56801 DIP2C 22982 genome.wustl.edu 37 10 332272 332272 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014974.2 -1 reviewed p.R1354W 1.000 284 0% 329 60.5% 3 100% probably_damaging(0.982) deleterious(0) deleterious(0.871) HMMPfam_AMP-binding,superfamily_SSF56801 LARP4B 23185 genome.wustl.edu 37 10 860918 860918 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000448368 -1 known p.R162* 0.046 76 0% 106 34% 27 51.8% - - - NULL IDI2-AS1 55853 genome.wustl.edu 37 10 1089812 1089812 + RNA SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NR_024628.1 +1 validated NULL 0.000 74 0% 134 41.8% 3 0% - - - - ADARB2 105 genome.wustl.edu 37 10 1279761 1279761 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018702.2 -1 reviewed p.S463L 1.000 130 0% 178 38.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_A_deamin,HMMSmart_ADEAMc PITRM1 10531 genome.wustl.edu 37 10 3190225 3190225 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014889.2 -1 validated p.R675* 0.990 285 0% 373 32.7% 17 23.5% - - - superfamily_LuxS/MPP-like metallohydrolase,HMMPfam_M16C_assoc PITRM1 10531 genome.wustl.edu 37 10 3201188 3201188 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014889.2 -1 validated p.L352F 1.000 134 0% 292 32.5% 10 0% possibly_damaging(0.794) deleterious(0.01) deleterious(0.704) HMMPfam_Peptidase_M16_C,superfamily_LuxS/MPP-like metallohydrolase KLF6 1316 genome.wustl.edu 37 10 3824115 3824115 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001300.5 -1 reviewed p.E132K 0.570 109 0% 173 32.9% 33 48.4% benign(0.156) tolerated(0.69) neutral(0.016) NULL AKR1C1 1645 genome.wustl.edu 37 10 5005678 5005678 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001353.5 +1 reviewed p.H14Q 0.009 366 0% 547 32.4% 2 50% benign(0.055) tolerated(0.41) neutral(0.018) HMMPfam_Aldo_ket_red,superfamily_Aldo/ket_red AKR1C2 1646 genome.wustl.edu 37 10 5037992 5037992 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001354.4 -1 reviewed p.V212 0.006 247 0% 314 26.8% 11 90.9% - - - HMMPfam_Aldo_ket_red,superfamily_Aldo/ket_red AKR1C2 1646 genome.wustl.edu 37 10 5041445 5041445 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001354.4 -1 reviewed p.D132Y 0.729 751 0% 932 20.3% 3 100% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Aldo_ket_red,superfamily_Aldo/ket_red TUBAL3 79861 genome.wustl.edu 37 10 5435795 5435795 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024803.2 -1 validated p.T342 0.986 124 0% 184 37.5% 0 - - - - superfamily_Tubulin C-terminal domain-like,HMMPfam_Tubulin_C TUBAL3 79861 genome.wustl.edu 37 10 5443009 5443009 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024803.2 -1 validated p.Q15H 1.000 93 0% 146 34.2% 0 - possibly_damaging(0.867) deleterious(0.01) deleterious(0.742) HMMPfam_Tubulin,superfamily_Tubulin nucleotide-binding domain-like ASB13 79754 genome.wustl.edu 37 10 5683746 5683746 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024701.3 -1 reviewed p.F232 0.073 117 0% 156 31.4% 6 16.6% - - - NULL FAM208B 54906 genome.wustl.edu 37 10 5772917 5772917 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017782.4 +1 validated p.E319* 0.997 145 0% 234 35.9% 0 - - - - NULL FAM208B 54906 genome.wustl.edu 37 10 5781613 5781613 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017782.4 +1 validated p.E494* 0.985 91 0% 152 37.5% 2 0% - - - NULL FAM208B 54906 genome.wustl.edu 37 10 5782424 5782424 + Missense_Mutation SNP A A T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017782.4 +1 validated p.N764I 1.000 51 0% 90 33.3% 0 - possibly_damaging(0.822) deleterious(0) deleterious(0.756) NULL PRKCQ 5588 genome.wustl.edu 37 10 6470298 6470298 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000397178 -1 known p.S437L 1.000 148 0% 217 35.5% 1 0% - - - HMMSmart_SM00133,HMMPfam_Pkinase_C SFMBT2 57713 genome.wustl.edu 37 10 7217977 7217977 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001029880.1 -1 provisional p.C653 0.998 252 0% 450 27.8% 0 - - - - NULL SFMBT2 57713 genome.wustl.edu 37 10 7325982 7325982 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001029880.1 -1 provisional p.R219H 1.000 149 0% 214 28% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_MBT,HMMSmart_SM00561,superfamily_Tudor/PWWP/MBT ITIH5 80760 genome.wustl.edu 37 10 7611706 7611706 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030569.5 -1 validated p.R692G 1.000 43 0% 76 35.5% 0 - benign(0.001) tolerated(0.14) neutral(0.249) NULL ITIH5 80760 genome.wustl.edu 37 10 7615128 7615128 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030569.5 -1 validated p.R670I 1.000 363 0% 527 33.8% 2 0% benign(0.016) tolerated(0.28) neutral(0.032) NULL ITIH5 80760 genome.wustl.edu 37 10 7627889 7627889 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030569.5 -1 validated p.Y361 1.000 189 0% 276 31.2% 0 - - - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like ITIH5 80760 genome.wustl.edu 37 10 7659204 7659204 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030569.5 -1 validated p.E232* 0.988 265 0% 332 25% 0 - - - - NULL ITIH2 3698 genome.wustl.edu 37 10 7747143 7747143 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002216.2 +1 validated p.Q53* 0.972 96 0% 126 23.8% 0 - - - - NULL CELF2 10659 genome.wustl.edu 37 10 11299737 11299737 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006561.3 +1 reviewed p.S147L 1.000 142 0% 216 33.3% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD USP6NL 9712 genome.wustl.edu 37 10 11543105 11543105 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080491.2 -1 validated p.Y144H 1.000 129 0% 160 34.4% 3 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p USP6NL 9712 genome.wustl.edu 37 10 11560539 11560539 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080491.2 -1 validated p.E81* 1.000 162 0% 157 32.5% 7 42.8% - - - NULL UPF2 26019 genome.wustl.edu 37 10 11994105 11994105 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015542.2 -1 reviewed p.R998 1.000 236 0% 418 27.3% 9 33.3% - - - superfamily_ARM repeat SEC61A2 55176 genome.wustl.edu 37 10 12211256 12211256 + Splice_Site SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142627.1 +1 reviewed e12-1 0.010 199 0% 424 29% 0 - - - - - CAMK1D 57118 genome.wustl.edu 37 10 12833167 12833167 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153498.2 +1 reviewed p.V192 1.000 274 0% 425 36% 13 15.3% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase CAMK1D 57118 genome.wustl.edu 37 10 12870810 12870810 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153498.2 +1 reviewed p.S361L 0.208 84 0% 97 40.2% 7 14.2% benign(0.076) deleterious(0.01) neutral(0.411) NULL MCM10 55388 genome.wustl.edu 37 10 13214724 13214724 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182751.2 +1 validated p.R185I 0.504 96 0% 143 35% 3 33.3% benign(0.143) deleterious(0.03) neutral(0.377) NULL SEPHS1 22929 genome.wustl.edu 37 10 13386914 13386914 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012247.3 -1 reviewed p.E13K 1.000 90 0% 177 37.3% 23 52.1% benign(0.139) tolerated(0.06) neutral(0.335) NULL CDNF 441549 genome.wustl.edu 37 10 14870191 14870191 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001029954.2 -1 validated p.E66* 1.000 301 0% 411 29.4% 1 0% - - - HMMPfam_Armet HSPA14 51182 genome.wustl.edu 37 10 14890847 14890847 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016299.2 +1 validated p.F110C 1.000 54 0% 61 44.3% 6 50% benign(0.229) tolerated(0.18) neutral(0.079) HMMPfam_HSP70,superfamily_Actin-like ATPase domain HSPA14 51182 genome.wustl.edu 37 10 14894448 14894448 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016299.2 +1 validated p.L218I 1.000 186 0% 281 32.4% 10 50% probably_damaging(0.996) deleterious(0.05) deleterious(0.807) HMMPfam_HSP70,superfamily_Actin-like ATPase domain HSPA14 51182 genome.wustl.edu 37 10 14896175 14896175 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016299.2 +1 validated p.T262 1.000 145 0% 200 33.5% 9 22.2% - - - HMMPfam_HSP70,superfamily_Actin-like ATPase domain DCLRE1C 64421 genome.wustl.edu 37 10 14951015 14951015 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001033855.1 -1 reviewed p.V491L 0.039 113 0% 145 31.7% 1 0% benign(0.052) tolerated(0.06) neutral(0.326) NULL DCLRE1C 64421 genome.wustl.edu 37 10 14974935 14974935 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001033855.1 -1 reviewed p.D233G 1.000 147 0% 352 28.4% 2 50% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL OLAH 55301 genome.wustl.edu 37 10 15107645 15107645 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018324.2 +1 validated p.Y208 0.000 89 0% 141 29.1% 0 - - - - HMMPfam_Thioesterase,superfamily_SSF53474 RPP38 10557 genome.wustl.edu 37 10 15145497 15145497 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001097590.1 +1 validated p.D62Y 0.027 48 0% 111 33.3% 16 43.7% probably_damaging(0.997) tolerated(0.05) deleterious(0.811) NULL RPP38 10557 genome.wustl.edu 37 10 15145662 15145662 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001097590.1 +1 validated p.V117I 0.603 70 0% 141 34.8% 43 39.5% benign(0.073) tolerated(1) neutral(0.005) HMMPfam_Ribosomal_L7Ae,superfamily_SSF55315 NMT2 9397 genome.wustl.edu 37 10 15161458 15161458 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004808.2 -1 reviewed p.R352* 0.700 228 0% 441 22.9% 1 0% - - - HMMPfam_NMT_C,superfamily_Acyl-CoA N-acyltransferases (Nat) FAM171A1 221061 genome.wustl.edu 37 10 15255565 15255565 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001010924.1 -1 validated p.N674 0.932 97 0% 208 33.7% 10 10% - - - HMMPfam_UPF0560 ITGA8 8516 genome.wustl.edu 37 10 15688894 15688894 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003638.1 -1 provisional p.F386 0.957 155 0% 231 29% 0 - - - - HMMSmart_Int_alpha,superfamily_SSF69318 LOC100287543 100287543 genome.wustl.edu 37 10 16859113 16859113 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002342962.1 +1 model p.A41V 0.312 82 0% 83 41% 4 25% - - - NULL CUBN 8029 genome.wustl.edu 37 10 16870882 16870882 + Silent SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001081.3 -1 reviewed p.G3562 0.997 155 0% 214 31.3% 4 0% - - - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CUBN 8029 genome.wustl.edu 37 10 16916380 16916380 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001081.3 -1 reviewed p.E3077K 0.009 180 0% 275 34.2% 0 - benign(0.282) tolerated(0.91) neutral(0.086) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CUBN 8029 genome.wustl.edu 37 10 16948316 16948316 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001081.3 -1 reviewed p.E2600K 1.000 222 0% 303 30.4% 0 - probably_damaging(0.999) tolerated(0.46) deleterious(0.502) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain TRDMT1 1787 genome.wustl.edu 37 10 17195597 17195597 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004412.5 -1 reviewed p.Q328H 1.000 352 0% 477 31.7% 5 20% possibly_damaging(0.91) tolerated(0.05) deleterious(0.708) superfamily_S-adenosyl-L-methionine-dependent methyltransferases ST8SIA6 338596 genome.wustl.edu 37 10 17363213 17363213 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000440449 -1 known p.R108* 0.117 170 0% 114 33.3% 0 - - - - NULL PLXDC2 84898 genome.wustl.edu 37 10 20290840 20290840 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032812.7 +1 provisional p.G83 0.960 116 0% 99 31.3% 8 25% - - - NULL PLXDC2 84898 genome.wustl.edu 37 10 20466309 20466309 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032812.7 +1 provisional p.F344L 1.000 185 0% 151 29.1% 8 62.5% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMPfam_PSI,HMMSmart_SM00423 NEBL 10529 genome.wustl.edu 37 10 21115412 21115412 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006393.2 -1 reviewed p.I611 0.905 287 0% 224 28.1% 0 - - - - HMMPfam_Nebulin,HMMSmart_SM00227 NEBL 10529 genome.wustl.edu 37 10 21158735 21158735 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006393.2 -1 reviewed p.T172 0.005 279 0% 245 35.9% 1 0% - - - NULL NEBL 10529 genome.wustl.edu 37 10 21185889 21185889 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006393.2 -1 reviewed p.D51N 1.000 233 0% 339 31% 0 - benign(0.19) deleterious(0.02) neutral(0.401) HMMPfam_Nebulin,HMMSmart_SM00227 MLLT10 8028 genome.wustl.edu 37 10 22022911 22022911 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004641.2 +1 validated p.G920D 1.000 115 0% 213 40.8% 6 33.3% possibly_damaging(0.753) deleterious(0) deleterious(0.721) NULL BMI1 648 genome.wustl.edu 37 10 22618428 22618428 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005180.6 +1 validated p.R313Q 1.000 300 0% 435 34.7% 38 47.3% probably_damaging(0.997) deleterious(0.02) deleterious(0.849) NULL ARMC3 219681 genome.wustl.edu 37 10 23297298 23297298 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173081.3 +1 validated p.K641N 0.643 69 0% 93 36.6% 2 100% probably_damaging(0.998) tolerated(0.12) deleterious(0.735) NULL ARMC3 219681 genome.wustl.edu 37 10 23319619 23319619 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173081.3 +1 validated p.E714* 1.000 357 0% 353 32% 6 16.6% - - - NULL MSRB2 22921 genome.wustl.edu 37 10 23393122 23393122 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012228.3 +1 validated p.K56N 1.000 90 0% 172 43.6% 28 25% probably_damaging(0.959) deleterious(0.04) deleterious(0.752) HMMPfam_SelR,superfamily_Mss4_like C10orf67 256815 genome.wustl.edu 37 10 23611441 23611441 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153714.2 -1 validated p.F119C 1.000 77 0% 116 34.5% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL C10orf67 256815 genome.wustl.edu 37 10 23633511 23633511 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153714.2 -1 validated p.R66C 0.032 21 0% 46 19.6% 0 - possibly_damaging(0.878) deleterious(0) deleterious(0.786) NULL KIAA1217 56243 genome.wustl.edu 37 10 24783450 24783450 + Missense_Mutation SNP G G C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019590.3 +1 validated p.E567D 1.000 152 0% 207 29% 2 50% probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL KIAA1217 56243 genome.wustl.edu 37 10 24813448 24813448 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019590.3 +1 validated p.R885C 1.000 38 0% 54 25.9% 43 44.1% benign(0.346) deleterious(0.01) deleterious(0.515) NULL KIAA1217 56243 genome.wustl.edu 37 10 24834988 24834988 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019590.3 +1 validated p.S1856Y 1.000 447 0% 775 32.8% 66 48.4% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL ARHGAP21 57584 genome.wustl.edu 37 10 24873933 24873933 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020824.3 -1 validated p.K1762T 0.867 101 0% 146 39.7% 12 33.3% possibly_damaging(0.485) deleterious(0.02) deleterious(0.544) NULL ARHGAP21 57584 genome.wustl.edu 37 10 24874495 24874495 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020824.3 -1 validated p.E1575K 0.998 111 0% 138 36.2% 20 50% benign(0.063) tolerated(0.16) neutral(0.064) NULL ARHGAP21 57584 genome.wustl.edu 37 10 24909625 24909625 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020824.3 -1 validated p.R400Q 0.989 187 0% 293 32.4% 0 - probably_damaging(1) tolerated(0.06) deleterious(0.823) NULL ARHGAP21 57584 genome.wustl.edu 37 10 24910065 24910065 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020824.3 -1 validated p.S253 0.996 185 0% 284 26.1% 4 50% - - - NULL THNSL1 79896 genome.wustl.edu 37 10 25313379 25313379 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024838.4 +1 validated p.E409D 0.938 208 0% 354 33.9% 5 60% probably_damaging(0.991) tolerated(0.18) deleterious(0.500) HMMPfam_PALP,superfamily_Tryptophan synthase beta subunit-like PLP-dependent enzymes MYO3A 53904 genome.wustl.edu 37 10 26310490 26310490 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017433.4 +1 reviewed p.S215F 1.000 150 0% 191 34.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase MYO3A 53904 genome.wustl.edu 37 10 26385314 26385314 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017433.4 +1 reviewed p.E523* 1.000 60 0% 70 24.3% 0 - - - - HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYO3A 53904 genome.wustl.edu 37 10 26446390 26446390 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017433.4 +1 reviewed p.R982I 1.000 184 0% 217 39.2% 0 - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYO3A 53904 genome.wustl.edu 37 10 26446396 26446396 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017433.4 +1 reviewed p.R984Q 1.000 181 0% 201 29.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYO3A 53904 genome.wustl.edu 37 10 26462887 26462887 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017433.4 +1 reviewed p.K1232E 0.008 135 0% 255 35.3% 0 - benign(0.005) tolerated(0.43) neutral(0.013) superfamily_SSF52540 MYO3A 53904 genome.wustl.edu 37 10 26463081 26463081 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017433.4 +1 reviewed p.Q1296H 0.023 114 0% 178 38.2% 0 - benign(0.313) deleterious(0) deleterious(0.542) superfamily_SSF52540 MYO3A 53904 genome.wustl.edu 37 10 26463432 26463432 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017433.4 +1 reviewed p.D1413E 0.000 114 0% 205 33.7% 0 - benign(0.001) tolerated(0.69) neutral(0.002) NULL APBB1IP 54518 genome.wustl.edu 37 10 26849126 26849126 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019043.3 +1 validated p.I416M 0.027 83 1.2% 117 34.2% 5 0% - - - HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 ABI1 10006 genome.wustl.edu 37 10 27037669 27037669 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005470.3 -1 validated p.A453T 1.000 164 0% 164 29.3% 41 46.3% probably_damaging(0.987) tolerated(0.14) deleterious(0.686) HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain ABI1 10006 genome.wustl.edu 37 10 27040543 27040543 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005470.3 -1 validated p.K445N 0.998 233 0% 298 33.2% 43 46.5% benign(0.148) deleterious(0.01) neutral(0.419) superfamily_SH3-domain YME1L1 10730 genome.wustl.edu 37 10 27406634 27406634 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_139312.1 -1 reviewed p.E587D 1.000 272 0% 565 31.5% 108 37% probably_damaging(0.969) tolerated(0.11) deleterious(0.683) HMMPfam_Peptidase_M41,superfamily_P-loop containing nucleoside triphosphate hydrolases LOC100288039 100288039 genome.wustl.edu 37 10 27568050 27568050 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002342965.1 +1 model p.A53S 0.010 187 0% 197 27.9% 0 - - - - NULL LOC100288039 100288039 genome.wustl.edu 37 10 27568195 27568195 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002342965.1 +1 model p.N101T 0.005 180 0% 203 27.6% 0 - - - - NULL ARMC4 55130 genome.wustl.edu 37 10 28151480 28151480 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018076.2 -1 validated p.N894 1.000 191 0% 269 32.3% 0 - - - - HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat ARMC4 55130 genome.wustl.edu 37 10 28223994 28223994 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018076.2 -1 validated p.L814I 0.997 205 0% 275 28.7% 0 - probably_damaging(0.999) tolerated(0.09) deleterious(0.787) HMMSmart_SM00185,superfamily_ARM repeat ARMC4 55130 genome.wustl.edu 37 10 28229547 28229547 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018076.2 -1 validated p.S644Y 0.459 97 0% 142 33.8% 2 0% benign(0.009) deleterious(0.04) neutral(0.349) HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat MPP7 143098 genome.wustl.edu 37 10 28420522 28420522 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173496.3 -1 validated p.K138N 1.000 226 0% 298 38.9% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_PDZ BAMBI 25805 genome.wustl.edu 37 10 28970244 28970244 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012342.2 +1 reviewed p.K45T 1.000 147 0% 254 36.6% 217 41% probably_damaging(0.991) deleterious(0.01) deleterious(0.850) HMMPfam_BAMBI,superfamily_SSF57302 LYZL1 84569 genome.wustl.edu 37 10 29599959 29599959 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032517.4 +1 validated p.E186K 0.972 211 0% 398 34.9% 0 - benign(0.001) tolerated(0.19) neutral(0.050) HMMPfam_Lys,HMMSmart_LYZ1,superfamily_SSF53955 SVIL 6840 genome.wustl.edu 37 10 29770550 29770550 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021738.2 -1 reviewed p.S1688L 0.665 147 0% 184 24.5% 8 0% benign(0) tolerated(0.18) neutral(0.056) superfamily_Actin depolymerizing proteins SVIL 6840 genome.wustl.edu 37 10 29776147 29776147 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021738.2 -1 reviewed p.P1477H 0.999 117 0% 195 36.9% 7 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00262,HMMPfam_Gelsolin,superfamily_Actin depolymerizing proteins SVIL 6840 genome.wustl.edu 37 10 29782231 29782231 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021738.2 -1 reviewed p.F1311V 1.000 224 0% 444 31.8% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SVIL 6840 genome.wustl.edu 37 10 29813568 29813568 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021738.2 -1 reviewed p.E807* 1.000 236 0% 394 33.2% 2 0% - - - NULL KIAA1462 57608 genome.wustl.edu 37 10 30317346 30317346 + Missense_Mutation SNP C C A rs12769728 TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020848.2 -1 validated p.E577D 0.994 103 0% 154 34.4% 0 - probably_damaging(0.99) tolerated(0.25) deleterious(0.478) NULL MTPAP 55149 genome.wustl.edu 37 10 30604896 30604896 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018109.3 -1 validated p.R461Q 1.000 77 0% 64 32.8% 13 53.8% probably_damaging(1) tolerated(0.16) deleterious(0.559) HMMPfam_PAP_assoc,superfamily_PAP/OAS1 substrate-binding domain MAP3K8 1326 genome.wustl.edu 37 10 30748379 30748379 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005204.2 +1 reviewed p.R408C 1.000 58 0% 117 33.3% 3 0% possibly_damaging(0.944) deleterious(0.02) deleterious(0.772) NULL LYZL2 119180 genome.wustl.edu 37 10 30901771 30901771 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_183058.2 -1 validated p.E165D 0.764 179 0% 272 29% 0 - benign(0.008) tolerated(0.65) neutral(0.003) HMMPfam_Lys,HMMSmart_LYZ1,superfamily_SSF53955 LOC645954 645954 genome.wustl.edu 37 10 30982478 30982478 + RNA SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XR_017086.3 +1 model NULL 0.997 34 0% 34 44.1% 0 - - - - - LOC645954 645954 genome.wustl.edu 37 10 30986322 30986322 + RNA SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XR_017086.3 +1 model NULL 1.000 62 0% 69 30.4% 0 - - - - - LOC645954 645954 genome.wustl.edu 37 10 30987341 30987341 + RNA SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XR_017086.3 +1 model NULL 1.000 156 0% 235 28.9% 1 0% - - - - LOC645954 645954 genome.wustl.edu 37 10 31001528 31001528 + RNA SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XR_017086.3 +1 model NULL 1.000 70 0% 136 27.2% 0 - - - - - LOC645954 645954 genome.wustl.edu 37 10 31006008 31006008 + RNA SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XR_017086.3 +1 model NULL 1.000 57 0% 76 27.6% 1 0% - - - - ZNF438 220929 genome.wustl.edu 37 10 31134277 31134277 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001143766.1 -1 validated p.D700 0.945 120 0% 172 36% 6 0% - - - NULL ZNF438 220929 genome.wustl.edu 37 10 31137837 31137837 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001143766.1 -1 validated p.F499L 0.000 188 0% 273 33.3% 4 0% benign(0.019) tolerated(0.32) neutral(0.025) NULL ZNF438 220929 genome.wustl.edu 37 10 31138155 31138155 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001143766.1 -1 validated p.I393M 0.860 55 0% 104 36.5% 2 50% benign(0.119) deleterious(0) neutral(0.454) NULL ZEB1 6935 genome.wustl.edu 37 10 31809072 31809072 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030751.5 +1 reviewed p.C270Y 1.000 55 0% 53 30.2% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZEB1 6935 genome.wustl.edu 37 10 31809210 31809210 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030751.5 +1 reviewed p.L316R 1.000 209 0% 203 36% 1 0% probably_damaging(0.998) deleterious(0.04) deleterious(0.823) NULL ZEB1 6935 genome.wustl.edu 37 10 31810481 31810481 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030751.5 +1 reviewed p.P740S 1.000 123 0% 124 29% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ARHGAP12 94134 genome.wustl.edu 37 10 32099583 32099583 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018287.5 -1 provisional p.E682* 1.000 182 0% 165 35.2% 7 14.2% - - - HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP ARHGAP12 94134 genome.wustl.edu 37 10 32197781 32197781 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018287.5 -1 provisional p.M1I 0.134 208 0% 381 25.2% 4 0% benign(0) tolerated(0.66) neutral(0.003) NULL ENSG00000222309 0 genome.wustl.edu 37 10 32635874 32635874 + RNA SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000410377 -1 novel NULL 1.000 20 0% 44 50% 0 - - - - - C10orf68 79741 genome.wustl.edu 37 10 32863455 32863455 + Splice_Site SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000375030 +1 known e0+1 0.693 64 0% 100 30% 0 - - - - - C10orf68 79741 genome.wustl.edu 37 10 33135308 33135308 + Silent SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024688.2 +1 validated p.T446 0.087 90 0% 63 33.3% 0 - - - - NULL C10orf68 79741 genome.wustl.edu 37 10 33137625 33137625 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024688.2 +1 validated p.L535V 0.003 87 0% 101 24.8% 0 - possibly_damaging(0.791) deleterious(0) deleterious(0.741) NULL NRP1 8829 genome.wustl.edu 37 10 33545339 33545339 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003873.5 -1 validated p.S240L 0.993 101 0% 130 31.5% 15 0% possibly_damaging(0.794) deleterious(0) deleterious(0.742) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain PARD3 56288 genome.wustl.edu 37 10 34759192 34759192 + Splice_Site SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019619.3 -1 validated e4-1 1.000 68 0% 123 39% 0 - - - - - CUL2 8453 genome.wustl.edu 37 10 35320512 35320512 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003591.2 -1 provisional p.S402 0.998 186 0% 271 31% 18 61.1% - - - HMMPfam_Cullin,superfamily_Cullin homology domain CUL2 8453 genome.wustl.edu 37 10 35351902 35351902 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003591.2 -1 provisional p.R70W 1.000 130 0% 170 29.4% 7 71.4% possibly_damaging(0.76) deleterious(0.01) deleterious(0.687) HMMPfam_Cullin,superfamily_Cullin repeat CREM 1390 genome.wustl.edu 37 10 35495976 35495976 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_181571.1 +1 reviewed p.N251T 1.000 71 0% 107 34.6% 26 26.9% benign(0.3) deleterious(0) deleterious(0.537) HMMSmart_SM00338,PatternScan_BZIP_BASIC,HMMPfam_bZIP_1 NAMPTL 646309 genome.wustl.edu 37 10 36811851 36811851 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000440465 -1 known p.L438F 1.000 270 0% 384 28.9% 9 0% possibly_damaging(0.941) tolerated(0.06) deleterious(0.709) HMMPfam_NAPRTase NAMPTL 646309 genome.wustl.edu 37 10 36812080 36812080 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000440465 -1 known p.F361 0.998 249 0% 439 27.8% 3 0% - - - HMMPfam_NAPRTase ANKRD30A 91074 genome.wustl.edu 37 10 37422889 37422889 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_052997.2 +1 validated p.V165 0.032 255 0% 385 32.2% 0 - - - - HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat ZNF248 57209 genome.wustl.edu 37 10 38126968 38126968 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021045.1 -1 provisional p.Q29H 1.000 192 0% 227 34.4% 7 14.2% probably_damaging(0.982) deleterious(0) deleterious(0.871) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF25 219749 genome.wustl.edu 37 10 38241544 38241544 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145011.2 -1 provisional p.F294 0.001 157 0% 160 22.5% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF33A 7581 genome.wustl.edu 37 10 38344580 38344580 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006954.1 +1 validated p.S510P 0.000 180 0% 140 28.6% 6 66.6% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF37A 7587 genome.wustl.edu 37 10 38407070 38407070 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001007094.2 +1 validated p.E331* 0.003 85 0% 124 31.5% 4 100% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CCNYL2 414194 genome.wustl.edu 37 10 42916341 42916341 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000426433 -1 known p.D228N 1.000 29 0% 30 36.7% 0 - probably_damaging(0.979) deleterious(0.04) deleterious(0.771) HMMSmart_CYCLIN,HMMPfam_Cyclin_N,superfamily_Cyclin_like ZNF33B 7582 genome.wustl.edu 37 10 43089831 43089831 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006955.1 -1 provisional p.E189D 1.000 144 0% 162 24.7% 4 25% possibly_damaging(0.946) tolerated(0.3) neutral(0.419) NULL RET 5979 genome.wustl.edu 37 10 43609111 43609111 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020975.4 +1 reviewed p.E623K 0.959 52 0% 67 38.8% 0 - possibly_damaging(0.912) tolerated(0.13) deleterious(0.616) NULL CSGALNACT2 55454 genome.wustl.edu 37 10 43655995 43655995 + Missense_Mutation SNP G G C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018590.3 +1 provisional p.G311A 1.000 246 0% 315 28.3% 5 20% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_CHGN,superfamily_Nucleotide-diphospho-sugar transferases FXYD4 53828 genome.wustl.edu 37 10 43870072 43870072 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173160.2 +1 reviewed p.D28N 0.108 231 0.4% 542 34.3% 1 0% benign(0) deleterious(0.05) neutral(0.345) HMMPfam_ATP1G1_PLM_MAT8,PatternScan_FXYD FXYD4 53828 genome.wustl.edu 37 10 43870970 43870970 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173160.2 +1 reviewed p.G41R 0.930 96 0% 150 34.7% 1 0% probably_damaging(0.989) deleterious(0) deleterious(0.884) HMMPfam_ATP1G1_PLM_MAT8,PatternScan_FXYD HNRNPF 3185 genome.wustl.edu 37 10 43882423 43882423 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001098204.1 -1 reviewed p.D304N 1.000 60 0% 129 33.3% 166 44.5% benign(0.347) deleterious(0) deleterious(0.554) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD ZNF239 8187 genome.wustl.edu 37 10 44052357 44052357 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001099282.1 -1 validated p.R391C 0.937 134 0% 178 39.3% 2 50% probably_damaging(1) tolerated(0.2) deleterious(0.549) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF239 8187 genome.wustl.edu 37 10 44052635 44052635 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001099282.1 -1 validated p.K298T 1.000 227 0% 257 31.5% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF485 220992 genome.wustl.edu 37 10 44111940 44111940 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145312.3 +1 validated p.R150I 1.000 152 0% 324 36.1% 0 - probably_damaging(0.958) tolerated(0.05) deleterious(0.747) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 CXCL12 6387 genome.wustl.edu 37 10 44871444 44871444 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001033886.2 -1 reviewed p.K101N 1.000 735 0% 800 29.7% 1 0% unknown(0) tolerated(0.14) - NULL TMEM72 643236 genome.wustl.edu 37 10 45430156 45430156 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001123376.1 +1 provisional p.K134N 1.000 58 0% 51 49% 0 - probably_damaging(0.989) deleterious(0) deleterious(0.884) NULL ZFAND4 93550 genome.wustl.edu 37 10 46121718 46121718 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001128324.1 -1 validated p.S518Y 0.250 65 0% 99 31.3% 1 0% benign(0) deleterious(0.03) neutral(0.364) NULL ZFAND4 93550 genome.wustl.edu 37 10 46159006 46159006 + Missense_Mutation SNP T T G rs72798235 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001128324.1 -1 validated p.K56N 1.000 95 0% 147 23.1% 1 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_ubiquitin,HMMSmart_SM00213,superfamily_Ubiquitin-like ZFAND4 93550 genome.wustl.edu 37 10 46159140 46159140 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001128324.1 -1 validated p.D12Y 1.000 141 0% 242 31% 2 50% possibly_damaging(0.91) deleterious(0) deleterious(0.807) NULL FAM21C 253725 genome.wustl.edu 37 10 46274454 46274454 + Missense_Mutation SNP T T A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015262.2 +1 validated p.F781L 1.000 409 0% 667 19% 13 38.4% benign(0.119) tolerated(0.2) neutral(0.059) NULL SYT15 83849 genome.wustl.edu 37 10 46959992 46959992 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_181519.2 -1 reviewed p.L384M 0.001 185 0% 312 13.8% 1 0% probably_damaging(0.977) deleterious(0.01) deleterious(0.825) NULL SYT15 83849 genome.wustl.edu 37 10 46962024 46962024 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031912.3 -1 reviewed p.K404N 1.000 85 0% 90 17.8% 1 0% benign(0.156) tolerated(0.62) neutral(0.018) superfamily_C2 domain (Calcium/lipid-binding domain CaLB) PPYR1 5540 genome.wustl.edu 37 10 47087146 47087146 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005972.4 +1 validated p.Q121 1.000 285 0% 354 16.4% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like PPYR1 5540 genome.wustl.edu 37 10 47087511 47087511 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005972.4 +1 validated p.R243M 0.988 104 0% 106 19.8% 0 - possibly_damaging(0.713) deleterious(0) deleterious(0.702) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ASAH2C 653365 genome.wustl.edu 37 10 48004048 48004048 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000426610 -1 known p.Q533H 0.071 440 0% 195 30.8% 0 - benign(0) deleterious(0.01) neutral(0.406) HMMPfam_Ceramidase_alk RBP3 5949 genome.wustl.edu 37 10 48383866 48383866 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002900.2 -1 reviewed p.L1122 0.995 127 0.8% 223 28.7% 0 - - - - HMMPfam_Peptidase_S41,HMMSmart_SM00245,superfamily_ClpP/crotonase GDF2 2658 genome.wustl.edu 37 10 48416477 48416477 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016204.1 -1 reviewed p.S73G 1.000 92 0% 62 32.3% 0 - probably_damaging(0.997) tolerated(0.09) deleterious(0.762) HMMPfam_TGFb_propeptide FRMPD2 143162 genome.wustl.edu 37 10 49430418 49430418 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001018071.3 -1 reviewed p.E465* 1.000 148 0% 147 37.4% 0 - - - - HMMPfam_FERM_M,superfamily_Second domain of FERM,HMMSmart_SM00295 MAPK8 5599 genome.wustl.edu 37 10 49618104 49618104 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_139047.1 +1 reviewed p.L115I 1.000 183 0% 143 28% 11 36.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_MAPK,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase WDFY4 57705 genome.wustl.edu 37 10 49935703 49935703 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020945.1 +1 validated p.R324W 0.822 174 0% 215 31.2% 0 - benign(0.148) deleterious(0) neutral(0.458) NULL WDFY4 57705 genome.wustl.edu 37 10 49939396 49939396 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020945.1 +1 validated p.F457 0.169 121 0% 146 38.4% 1 0% - - - superfamily_ARM repeat WDFY4 57705 genome.wustl.edu 37 10 49942017 49942017 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020945.1 +1 validated p.E542* 0.887 261 0% 396 36.6% 0 - - - - superfamily_ARM repeat WDFY4 57705 genome.wustl.edu 37 10 49982685 49982685 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000312002 +1 known p.R3C 0.993 57 0% 64 39.1% 0 - - - - NULL LRRC18 474354 genome.wustl.edu 37 10 50121853 50121853 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001006939.3 -1 validated p.E116D 0.991 163 0% 279 22.2% 0 - probably_damaging(0.991) tolerated(0.48) neutral(0.455) HMMPfam_LRR_1,superfamily_Outer arm dynein light chain 1 WDFY4 57705 genome.wustl.edu 37 10 50167812 50167812 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020945.1 +1 validated p.P2726H 1.000 94 0% 119 37% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Beach,superfamily_BEACH domain,superfamily_WD40 repeat-like VSTM4 196740 genome.wustl.edu 37 10 50256599 50256599 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001031746.3 -1 validated p.S233R 1.000 99 0% 95 32.6% 3 0% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL VSTM4 196740 genome.wustl.edu 37 10 50311791 50311791 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144984.2 -1 validated p.S191F 0.001 143 0% 245 34.7% 0 - unknown(0) - - NULL C10orf128 170371 genome.wustl.edu 37 10 50374982 50374982 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001010863.1 -1 provisional p.C57Y 0.996 77 0% 85 10.6% 4 0% probably_damaging(0.981) deleterious(0) deleterious(0.870) NULL C10orf71 118461 genome.wustl.edu 37 10 50532675 50532675 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001135196.1 +1 validated p.Q695H 0.344 39 0% 75 48% 0 - probably_damaging(0.98) deleterious(0) deleterious(0.869) NULL PGBD3 267004 genome.wustl.edu 37 10 50725153 50725153 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_170753.2 -1 validated p.R3Q 0.995 112 0% 121 29.8% 2 50% benign(0.008) deleterious(0) neutral(0.445) NULL CHAT 1103 genome.wustl.edu 37 10 50857676 50857676 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020549.4 +1 reviewed p.L502R 1.000 21 0% 20 30% 0 - probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_Carn_acyltransf,superfamily_CoA-dependent acyltransferases OGDHL 55753 genome.wustl.edu 37 10 50952736 50952736 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018245.2 -1 validated p.K564N 1.000 125 0% 157 27.4% 5 60% possibly_damaging(0.671) deleterious(0.03) deleterious(0.603) HMMPfam_E1_dh,superfamily_SSF52518 NCOA4 8031 genome.wustl.edu 37 10 51585325 51585325 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145260.1 +1 reviewed p.K491T 0.345 73 0% 97 32% 36 52.7% possibly_damaging(0.767) deleterious(0.01) deleterious(0.690) NULL FAM21A 387680 genome.wustl.edu 37 10 51857470 51857470 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005751.1 +1 validated p.E486K 0.645 205 0% 363 21.5% 11 54.5% possibly_damaging(0.467) tolerated(0.06) deleterious(0.476) NULL SGMS1 259230 genome.wustl.edu 37 10 52087030 52087030 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_147156.3 -1 reviewed p.R226W 1.000 104 0% 137 21.9% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL A1CF 29974 genome.wustl.edu 37 10 52570847 52570847 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138932.1 -1 reviewed p.F479L 1.000 237 0% 222 32% 0 - probably_damaging(0.987) tolerated(0.4) neutral(0.453) superfamily_dsRNA-binding domain-like A1CF 29974 genome.wustl.edu 37 10 52587963 52587963 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138932.1 -1 reviewed p.L233I 0.931 350 0% 242 36.8% 0 - probably_damaging(0.998) tolerated(0.08) deleterious(0.774) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD PRKG1 5592 genome.wustl.edu 37 10 54040566 54040566 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006258.2 +1 validated p.S474Y 1.000 183 0% 124 41.1% 0 - benign(0.001) tolerated(0.19) neutral(0.050) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase PCDH15 65217 genome.wustl.edu 37 10 55566583 55566583 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142771.1 -1 reviewed p.S1602Y 1.000 268 0% 185 33% 0 - benign(0.345) deleterious(0) deleterious(0.553) NULL PCDH15 65217 genome.wustl.edu 37 10 55566674 55566674 + Nonsense_Mutation SNP G G A rs185389206 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142771.1 -1 reviewed p.R1572* 0.003 137 0% 105 32.4% 0 - - - - NULL PCDH15 65217 genome.wustl.edu 37 10 55568519 55568519 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142769.1 -1 reviewed p.R1769I 0.000 331 0% 370 32.4% 0 - unknown(0) deleterious(0) - NULL PCDH15 65217 genome.wustl.edu 37 10 55568704 55568704 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142769.1 -1 reviewed p.G1707 0.058 293 0.3% 359 32.9% 0 - - - - NULL PCDH15 65217 genome.wustl.edu 37 10 55569072 55569072 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142769.1 -1 reviewed p.D1585Y 1.000 389 0% 410 30.5% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL PCDH15 65217 genome.wustl.edu 37 10 55583062 55583062 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142763.1 -1 reviewed p.D1482G 1.000 232 0% 235 28.5% 0 - possibly_damaging(0.888) deleterious(0) deleterious(0.792) NULL PCDH15 65217 genome.wustl.edu 37 10 55583063 55583063 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142763.1 -1 reviewed p.D1482Y 1.000 235 0% 236 28.8% 0 - benign(0.048) deleterious(0) neutral(0.448) NULL PCDH15 65217 genome.wustl.edu 37 10 55721588 55721588 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142763.1 -1 reviewed p.I983S 1.000 235 0% 200 27.5% 0 - probably_damaging(0.999) tolerated(0.22) deleterious(0.532) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDH15 65217 genome.wustl.edu 37 10 56138633 56138633 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142763.1 -1 reviewed p.S81Y 0.998 160 0% 102 28.4% 0 - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMSmart_SM00112 IPMK 253430 genome.wustl.edu 37 10 59955857 59955857 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152230.3 -1 provisional p.R411* 0.973 74 0% 96 35.4% 2 0% - - - HMMPfam_IPK,superfamily_SSF56104 BICC1 80114 genome.wustl.edu 37 10 60548181 60548181 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080512.1 +1 reviewed p.R200W 1.000 249 0% 151 31.1% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00322,superfamily_Eukaryotic type KH-domain (KH-domain type I) PHYHIPL 84457 genome.wustl.edu 37 10 61005349 61005349 + Nonstop_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032439.3 +1 validated p.*377E 1.000 51 0% 43 25.6% 0 - - - - NULL SLC16A9 220963 genome.wustl.edu 37 10 61414117 61414117 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_194298.2 -1 validated p.E223* 0.599 163 0% 269 32% 0 - - - - HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter ANK3 288 genome.wustl.edu 37 10 61830008 61830008 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020987.2 -1 reviewed p.P3544L 1.000 203 0% 246 36.2% 0 - probably_damaging(0.995) - - NULL ANK3 288 genome.wustl.edu 37 10 61832027 61832027 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020987.2 -1 reviewed p.S2871L 0.997 121 0% 93 23.7% 0 - benign(0.195) - - NULL ANK3 288 genome.wustl.edu 37 10 61832438 61832438 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020987.2 -1 reviewed p.S2734Y 0.542 260 0% 274 36.5% 1 0% benign(0.191) - - NULL ANK3 288 genome.wustl.edu 37 10 61833503 61833503 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020987.2 -1 reviewed p.K2379R 1.000 166 0% 147 27.9% 0 - benign(0.039) - - NULL ANK3 288 genome.wustl.edu 37 10 61835920 61835920 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020987.2 -1 reviewed p.S1573 0.893 149 0% 173 35.3% 0 - - - - NULL ANK3 288 genome.wustl.edu 37 10 61847924 61847924 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020987.2 -1 reviewed p.R1174I 1.000 73 0% 175 30.3% 3 33.3% possibly_damaging(0.92) deleterious(0) deleterious(0.816) NULL RHOBTB1 9886 genome.wustl.edu 37 10 62631393 62631393 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014836.4 -1 reviewed p.F646 1.000 216 0% 289 31.5% 3 33.3% - - - NULL JMJD1C 221037 genome.wustl.edu 37 10 64967315 64967315 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032776.1 -1 validated p.F1372V 0.270 148 0% 191 20.9% 5 20% benign(0.001) tolerated(0.65) neutral(0.003) NULL JMJD1C 221037 genome.wustl.edu 37 10 64973781 64973781 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032776.1 -1 validated p.D716N 1.000 160 0% 318 32.4% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CTNNA3 29119 genome.wustl.edu 37 10 68535266 68535266 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001127384.1 -1 validated p.R355M 1.000 258 0% 237 33.8% 0 - probably_damaging(0.991) deleterious(0.03) deleterious(0.808) HMMPfam_Vinculin LRRTM3 347731 genome.wustl.edu 37 10 68687212 68687212 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178011.3 +1 validated p.C180R 1.000 123 0% 145 33.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00365,superfamily_L domain-like SIRT1 23411 genome.wustl.edu 37 10 69672272 69672272 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142498.1 +1 reviewed p.E172* 1.000 177 0% 282 29.8% 6 33.3% - - - superfamily_DHS-like NAD/FAD-binding domain HERC4 26091 genome.wustl.edu 37 10 69699350 69699350 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022079.2 -1 validated p.F864V 1.000 239 0% 403 28.5% 18 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain MYPN 84665 genome.wustl.edu 37 10 69881563 69881563 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032578.2 +1 validated p.R123Q 0.000 49 0% 71 26.8% 0 - benign(0.003) tolerated(0.24) neutral(0.037) NULL MYPN 84665 genome.wustl.edu 37 10 69881906 69881906 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032578.2 +1 validated p.E237D 0.004 73 0% 84 23.8% 0 - possibly_damaging(0.856) tolerated(0.05) deleterious(0.676) NULL MYPN 84665 genome.wustl.edu 37 10 69948679 69948679 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032578.2 +1 validated p.S907 1.000 157 0% 175 32.6% 0 - - - - NULL MYPN 84665 genome.wustl.edu 37 10 69954217 69954217 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032578.2 +1 validated p.S1008Y 0.988 92 0% 110 31.8% 0 - possibly_damaging(0.684) deleterious(0.03) deleterious(0.609) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin MYPN 84665 genome.wustl.edu 37 10 69959199 69959199 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032578.2 +1 validated p.K1120 1.000 117 0% 127 34.6% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin DNA2 1763 genome.wustl.edu 37 10 70202856 70202856 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080449.1 -1 provisional p.Q497H 0.961 123 0% 247 27.9% 3 66.6% possibly_damaging(0.91) deleterious(0.05) deleterious(0.708) NULL TET1 80312 genome.wustl.edu 37 10 70332415 70332415 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030625.2 +1 validated p.R107Q 0.995 46 0% 103 29.1% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL TET1 80312 genome.wustl.edu 37 10 70332625 70332625 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030625.2 +1 validated p.N177T 0.001 28 0% 99 30.3% 0 - possibly_damaging(0.85) deleterious(0) deleterious(0.772) NULL TET1 80312 genome.wustl.edu 37 10 70411688 70411688 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030625.2 +1 validated p.E1454D 1.000 143 0% 332 33.1% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL CCAR1 55749 genome.wustl.edu 37 10 70496737 70496737 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018237.2 +1 validated p.N60H 1.000 60 0% 81 28.4% 8 62.5% unknown(0) deleterious(0.01) - NULL CCAR1 55749 genome.wustl.edu 37 10 70520794 70520794 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018237.2 +1 validated p.R651* 1.000 44 0% 149 26.8% 18 16.6% - - - HMMPfam_SAP,HMMSmart_SM00513,superfamily_SAP domain STOX1 219736 genome.wustl.edu 37 10 70641774 70641774 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001130161.2 +1 reviewed p.E124G 1.000 256 0% 442 29.4% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Stork_head KIAA1279 26128 genome.wustl.edu 37 10 70775592 70775592 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015634.3 +1 reviewed p.L429P 1.000 122 0% 248 37.1% 40 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL KIAA1279 26128 genome.wustl.edu 37 10 70776036 70776036 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015634.3 +1 reviewed p.K577T 0.929 89 0% 250 34.8% 48 54.1% benign(0.002) tolerated(0.24) neutral(0.037) NULL HKDC1 80201 genome.wustl.edu 37 10 71003077 71003077 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025130.3 +1 validated p.F277 1.000 92 0% 104 73.1% 3 100% - - - HMMPfam_Hexokinase_2,superfamily_Actin-like ATPase domain HKDC1 80201 genome.wustl.edu 37 10 71018651 71018651 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025130.3 +1 validated p.D718Y 1.000 134 0% 302 32.5% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Hexokinase_2,superfamily_Actin-like ATPase domain HKDC1 80201 genome.wustl.edu 37 10 71026507 71026507 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025130.3 +1 validated p.E916D 0.089 72 0% 175 38.3% 1 0% benign(0) tolerated(0.4) neutral(0.016) NULL TACR2 6865 genome.wustl.edu 37 10 71175861 71175861 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001057.2 -1 validated p.V73 0.998 112 0% 268 29.1% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 TSPAN15 23555 genome.wustl.edu 37 10 71255378 71255378 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012339.3 +1 reviewed p.R129Q 1.000 231 0% 387 31.3% 25 68% possibly_damaging(0.941) tolerated(0.17) neutral(0.446) superfamily_Tetraspanin,HMMPfam_Tetraspannin TSPAN15 23555 genome.wustl.edu 37 10 71266629 71266629 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012339.3 +1 reviewed p.E260D 1.000 21 0% 32 43.8% 39 61.5% possibly_damaging(0.916) tolerated(0.18) neutral(0.423) NULL C10orf35 219738 genome.wustl.edu 37 10 71391596 71391596 + Splice_Site SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145306.2 +1 validated e1+1 1.000 109 0% 144 31.2% 3 100% - - - - SAR1A 56681 genome.wustl.edu 37 10 71913631 71913631 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142648.1 -1 validated p.R148H 1.000 327 0% 484 32.6% 187 44.3% benign(0.065) deleterious(0) neutral(0.449) HMMSmart_SM00178,HMMSmart_SM00177,HMMPfam_Arf,superfamily_P-loop containing nucleoside triphosphate hydrolases C10orf27 219793 genome.wustl.edu 37 10 72532313 72532313 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152710.2 -1 validated p.P309 0.001 399 0% 497 36.2% 0 - - - - NULL CDH23 64072 genome.wustl.edu 37 10 73447440 73447440 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022124.5 +1 reviewed p.A675T 0.992 84 0% 116 27.6% 0 - benign(0.024) tolerated(0.42) neutral(0.015) superfamily_Cadherin-like CDH23 64072 genome.wustl.edu 37 10 73468897 73468897 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022124.5 +1 reviewed p.A1050V 0.994 88 0% 156 31.4% 0 - possibly_damaging(0.731) deleterious(0.02) deleterious(0.650) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like CDH23 64072 genome.wustl.edu 37 10 73501684 73501684 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000398792 +1 known p.S437 0.023 17 0% 24 50% 0 - - - - HMMSmart_SM00112,superfamily_Cadherin-like PSAP 5660 genome.wustl.edu 37 10 73585487 73585487 + Splice_Site SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000357471 -1 known e8-1 0.000 47 0% 61 21.3% 3 33.3% - - - - PSAP 5660 genome.wustl.edu 37 10 73590888 73590888 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001042465.1 -1 reviewed p.E124* 0.997 166 0% 291 34% 421 0.7% - - - HMMPfam_SapB_2,HMMSmart_SapB,superfamily_Saposin_like ANAPC16 119504 genome.wustl.edu 37 10 73990146 73990146 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173473.2 +1 validated p.C55 0.997 249 0.4% 495 33.9% 76 39.4% - - - NULL MICU1 10367 genome.wustl.edu 37 10 74127971 74127971 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006077.2 -1 validated p.F473 0.914 140 0% 260 35.4% 61 39.3% - - - NULL P4HA1 5033 genome.wustl.edu 37 10 74790078 74790078 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000917.3 -1 reviewed p.R400I 1.000 218 0% 278 24.8% 108 34.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00702 TTC18 118491 genome.wustl.edu 37 10 75037110 75037110 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145170.3 -1 validated p.K873T 0.999 106 0% 207 31.9% 2 100% probably_damaging(0.965) deleterious(0.03) deleterious(0.771) superfamily_TPR-like TTC18 118491 genome.wustl.edu 37 10 75095277 75095277 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145170.3 -1 validated p.S266 0.662 172 0% 253 32.8% 2 50% - - - NULL ANXA7 310 genome.wustl.edu 37 10 75148091 75148091 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004034.2 -1 reviewed p.R195C 1.000 170 0% 280 27.5% 67 40.2% probably_damaging(0.973) deleterious(0.03) deleterious(0.779) superfamily_Annexin,HMMPfam_Annexin MSS51 118490 genome.wustl.edu 37 10 75187482 75187482 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001024593.1 -1 validated p.R89Q 0.059 73 0% 116 33.6% 0 - probably_damaging(0.968) deleterious(0.02) deleterious(0.793) NULL SYNPO2L 79933 genome.wustl.edu 37 10 75413284 75413284 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001114133.1 -1 validated p.R129C 0.326 45 0% 71 38% 0 - possibly_damaging(0.652) tolerated(0.06) deleterious(0.551) NULL SEC24C 9632 genome.wustl.edu 37 10 75519546 75519546 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004922.2 +1 reviewed p.G159S 1.000 45 0% 91 42.9% 39 33.3% probably_damaging(0.995) tolerated(0.74) neutral(0.459) NULL SEC24C 9632 genome.wustl.edu 37 10 75526137 75526137 + Missense_Mutation SNP G G A rs144210286 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004922.2 +1 reviewed p.R546H 1.000 76 0% 176 34.7% 50 42% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_Sec23_trunk,superfamily_vWA-like,superfamily_beta-sandwich domain of Sec23/24 KIAA0913 23053 genome.wustl.edu 37 10 75550762 75550762 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015037.2 +1 validated p.T324M 1.000 29 0% 44 36.4% 20 40% probably_damaging(0.989) deleterious(0.02) deleterious(0.823) NULL PLAU 5328 genome.wustl.edu 37 10 75675091 75675091 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002658.3 +1 reviewed p.Y351 0.998 102 1% 143 37.8% 34 17.6% - - - HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases VCL 7414 genome.wustl.edu 37 10 75849004 75849004 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014000.2 +1 reviewed p.Q358R 1.000 71 0% 152 33.6% 30 20% possibly_damaging(0.93) deleterious(0.03) deleterious(0.741) HMMPfam_Vinculin,superfamily_alpha-catenin/vinculin ADK 132 genome.wustl.edu 37 10 76429959 76429959 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006721.2 +1 reviewed p.F299C 1.000 200 0% 263 39.2% 44 50% probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_PfkB,superfamily_Ribokinase-like VDAC2 7417 genome.wustl.edu 37 10 76982023 76982023 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003375.3 +1 reviewed p.E200* 1.000 96 0% 245 33.5% 108 8.3% - - - HMMPfam_Porin_3 VDAC2 7417 genome.wustl.edu 37 10 76990727 76990727 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003375.3 +1 reviewed p.A289T 1.000 104 0% 242 35.5% 255 80.7% benign(0.011) deleterious(0) neutral(0.445) NULL DLG5 9231 genome.wustl.edu 37 10 79576814 79576814 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004747.3 -1 reviewed p.K1275N 1.000 264 0% 464 29.7% 26 26.9% probably_damaging(0.99) deleterious(0.02) deleterious(0.825) NULL POLR3A 11128 genome.wustl.edu 37 10 79769648 79769648 + Missense_Mutation SNP G G A rs187245012 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007055.3 -1 validated p.R582C 1.000 105 0% 184 42.4% 9 77.7% possibly_damaging(0.812) deleterious(0) deleterious(0.750) HMMPfam_RNA_pol_Rpb1_3,superfamily_SSF64484 ZMIZ1 57178 genome.wustl.edu 37 10 80961430 80961430 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020338.3 +1 validated p.R14Q 1.000 64 0% 107 36.4% 16 43.7% probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL ZMIZ1 57178 genome.wustl.edu 37 10 81053330 81053330 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020338.3 +1 validated p.R384W 1.000 13 0% 18 27.8% 4 50% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL ZMIZ1 57178 genome.wustl.edu 37 10 81058873 81058873 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020338.3 +1 validated p.R578H 1.000 47 0% 58 34.5% 9 22.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL FAM22B 729262 genome.wustl.edu 37 10 81466194 81466194 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000429828 +1 known p.A260V 0.004 125 0% 69 15.9% 0 - benign(0.056) deleterious(0) neutral(0.448) NULL MAT1A 4143 genome.wustl.edu 37 10 82036143 82036143 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000429.2 -1 reviewed p.G253* 0.999 62 0% 64 29.7% 0 - - - - HMMPfam_S-AdoMet_synt_C,superfamily_S-AdoMet_synt TSPAN14 81619 genome.wustl.edu 37 10 82269159 82269159 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030927.2 +1 validated p.E128K 0.996 123 0% 132 34.8% 74 33.7% benign(0.001) tolerated(0.62) neutral(0.004) superfamily_Tetraspanin,HMMPfam_Tetraspannin NRG3 10718 genome.wustl.edu 37 10 83635919 83635919 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001010848.3 +1 reviewed p.H275Y 1.000 27 0% 48 33.3% 0 - benign(0) tolerated(0.77) neutral(0.001) NULL NRG3 10718 genome.wustl.edu 37 10 83926497 83926497 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000404576 +1 known p.I25 0.000 313 0% 254 39.4% 0 - - - - NULL WAPAL 23063 genome.wustl.edu 37 10 88220178 88220178 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015045.2 -1 validated p.R853I 1.000 336 0% 551 32.8% 19 26.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_WAPL,superfamily_ARM repeat WAPAL 23063 genome.wustl.edu 37 10 88231998 88231998 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015045.2 -1 validated p.K666T 1.000 163 0% 206 25.2% 9 11.1% probably_damaging(1) deleterious(0.05) deleterious(0.845) HMMPfam_WAPL,superfamily_ARM repeat WAPAL 23063 genome.wustl.edu 37 10 88260201 88260201 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015045.2 -1 validated p.D267N 0.992 111 0% 156 21.2% 6 0% benign(0.277) tolerated(0.19) neutral(0.079) NULL WAPAL 23063 genome.wustl.edu 37 10 88277847 88277847 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000342368 -1 known p.E79* 1.000 81 0% 122 41% 1 0% - - - NULL MMRN2 79812 genome.wustl.edu 37 10 88702116 88702116 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024756.2 -1 validated p.G809W 0.002 77 0% 129 38% 11 0% probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL MINPP1 9562 genome.wustl.edu 37 10 89268226 89268226 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004897.4 +1 validated p.E257D 1.000 55 0% 73 37% 3 0% possibly_damaging(0.541) tolerated(0.21) neutral(0.227) HMMPfam_Acid_phosphat_A,superfamily_Phosphoglycerate mutase-like PTEN 5728 genome.wustl.edu 37 10 89624245 89624245 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000371953 +1 known p.E7* 1.000 287 0% 373 35.7% 25 60% - - - NULL PTEN 5728 genome.wustl.edu 37 10 89653842 89653842 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000371953 +1 known p.R47M 1.000 215 0% 238 31.5% 17 29.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II PTEN 5728 genome.wustl.edu 37 10 89692898 89692898 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000371953 +1 known p.K128Q 1.000 208 0% 295 26.1% 31 41.9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DSPc,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II RNLS 55328 genome.wustl.edu 37 10 90034736 90034736 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018363.3 -1 validated p.A310 0.000 140 0% 164 29.9% 1 0% - - - NULL LIPJ 142910 genome.wustl.edu 37 10 90356597 90356597 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001010939.2 +1 validated p.F209 0.000 152 0% 43 39.5% 0 - - - - HMMPfam_Abhydrolase_1,superfamily_alpha/beta-Hydrolases LIPF 8513 genome.wustl.edu 37 10 90438297 90438297 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004190.2 +1 reviewed p.G352 0.000 227 0% 202 28.2% 0 - - - - HMMPfam_Abhydrolase_1,superfamily_alpha/beta-Hydrolases FAS 355 genome.wustl.edu 37 10 90774000 90774000 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000043.3 +1 reviewed p.V267 0.000 114 0% 173 32.4% 10 20% - - - HMMPfam_Death,HMMSmart_SM00005,superfamily_DEATH domain LIPA 3988 genome.wustl.edu 37 10 90983454 90983454 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000235.2 -1 reviewed p.R270I 0.963 108 0% 81 34.6% 22 9% unknown(0) - - HMMPfam_Abhydrolase_1,superfamily_alpha/beta-Hydrolases IFIT3 3437 genome.wustl.edu 37 10 91099122 91099122 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001031683.2 +1 validated p.S237Y 0.135 88 0% 111 33.3% 3 0% benign(0.021) tolerated(0.05) neutral(0.346) superfamily_TPR-like IFIT3 3437 genome.wustl.edu 37 10 91099366 91099366 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001031683.2 +1 validated p.S318 0.000 42 0% 82 36.6% 5 0% - - - superfamily_TPR-like SLC16A12 387700 genome.wustl.edu 37 10 91203556 91203556 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_213606.3 -1 validated p.T57 0.999 155 0% 179 36.9% 4 75% - - - HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter PANK1 53354 genome.wustl.edu 37 10 91371496 91371496 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_148977.1 -1 reviewed p.A338V 1.000 122 0% 137 33.6% 6 50% probably_damaging(0.996) tolerated(0.05) deleterious(0.807) HMMPfam_Fumble,superfamily_Actin-like ATPase domain KIF20B 9585 genome.wustl.edu 37 10 91486188 91486188 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016195.2 +1 validated p.E674* 1.000 72 0% 107 33.6% 0 - - - - NULL KIF20B 9585 genome.wustl.edu 37 10 91497569 91497569 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016195.2 +1 validated p.E951K 0.999 48 0% 57 28.1% 1 0% possibly_damaging(0.892) deleterious(0.01) deleterious(0.757) NULL HTR7 3363 genome.wustl.edu 37 10 92509291 92509291 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019859.3 -1 reviewed p.A200 0.882 79 0% 132 31.8% 1 0% - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like PCGF5 84333 genome.wustl.edu 37 10 93038067 93038067 + Missense_Mutation SNP C C A rs191746944 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032373.3 +1 provisional p.F255L 0.653 216 0% 224 27.7% 5 20% possibly_damaging(0.942) tolerated(0.98) neutral(0.387) NULL HECTD2 143279 genome.wustl.edu 37 10 93221942 93221942 + Splice_Site SNP G G C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182765.3 +1 validated e5+1 1.000 185 0% 193 37.8% 2 100% - - - - HECTD2 143279 genome.wustl.edu 37 10 93242759 93242759 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182765.3 +1 validated p.I249 1.000 110 0% 87 19.5% 0 - - - - NULL PPP1R3C 5507 genome.wustl.edu 37 10 93389874 93389874 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005398.4 -1 provisional p.R255I 0.996 138 0% 132 32.6% 0 - benign(0.027) deleterious(0.03) neutral(0.366) HMMPfam_CBM_21 TNKS2 80351 genome.wustl.edu 37 10 93601083 93601083 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025235.3 +1 validated p.E573* 1.000 250 0% 335 29.9% 7 14.2% - - - HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK BTAF1 9044 genome.wustl.edu 37 10 93713510 93713510 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003972.2 +1 validated p.E194A 1.000 177 0% 180 33.3% 2 50% benign(0.02) tolerated(0.66) neutral(0.004) superfamily_ARM repeat BTAF1 9044 genome.wustl.edu 37 10 93749099 93749099 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003972.2 +1 validated p.E872D 0.990 92 0% 110 31.8% 4 75% benign(0) tolerated(0.75) neutral(0.002) superfamily_ARM repeat BTAF1 9044 genome.wustl.edu 37 10 93770902 93770902 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003972.2 +1 validated p.F1392L 0.998 81 0% 99 21.2% 2 50% benign(0.002) tolerated(0.41) neutral(0.015) HMMPfam_SNF2_N,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases HHEX 3087 genome.wustl.edu 37 10 94452173 94452173 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002729.4 +1 reviewed p.R137M 1.000 43 0% 75 24% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00389,superfamily_Homeodomain-like HHEX 3087 genome.wustl.edu 37 10 94454304 94454304 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002729.4 +1 reviewed p.E198* 1.000 92 0% 136 26.5% 7 0% - - - HMMSmart_SM00389 HHEX 3087 genome.wustl.edu 37 10 94454498 94454498 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002729.4 +1 reviewed p.G262 0.002 101 0% 182 26.9% 2 50% - - - NULL CYP26A1 1592 genome.wustl.edu 37 10 94835697 94835697 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000783.3 +1 reviewed p.R327* 0.949 117 0% 184 33.2% 0 - - - - HMMPfam_p450,superfamily_Cytochrome_P450 CYP26A1 1592 genome.wustl.edu 37 10 94836454 94836454 + Splice_Site SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000783.3 +1 reviewed e6+1 1.000 144 0% 188 24.5% 0 - - - - - CYP26A1 1592 genome.wustl.edu 37 10 94836752 94836752 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000783.3 +1 reviewed p.I395 1.000 83 0% 98 23.5% 0 - - - - HMMPfam_p450,superfamily_Cytochrome_P450 CYP26A1 1592 genome.wustl.edu 37 10 94836819 94836819 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000783.3 +1 reviewed p.R418* 1.000 109 0% 146 39.7% 0 - - - - HMMPfam_p450,superfamily_Cytochrome_P450 MYOF 26509 genome.wustl.edu 37 10 95159233 95159233 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013451.3 -1 reviewed p.Q379 1.000 119 0% 152 34.2% 4 0% - - - HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) CEP55 55165 genome.wustl.edu 37 10 95276727 95276727 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001127182.1 +1 validated p.D239N 0.574 94 0% 179 34.1% 19 57.8% benign(0.012) tolerated(0.12) neutral(0.261) NULL LGI1 9211 genome.wustl.edu 37 10 95517968 95517968 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005097.2 +1 reviewed p.L23I 1.000 183 0% 229 33.6% 0 - benign(0.001) tolerated(0.36) neutral(0.020) NULL LGI1 9211 genome.wustl.edu 37 10 95518525 95518525 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005097.2 +1 reviewed p.V75A 1.000 188 0% 191 27.7% 0 - benign(0.079) tolerated(0.07) neutral(0.325) superfamily_L domain-like LGI1 9211 genome.wustl.edu 37 10 95553033 95553033 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005097.2 +1 reviewed p.P255H 1.000 236 0% 227 32.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_EPTP PLCE1 51196 genome.wustl.edu 37 10 96076352 96076352 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016341.3 +1 reviewed p.L2061V 1.000 102 0% 128 35.9% 7 57.1% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL PLCE1 51196 genome.wustl.edu 37 10 96081669 96081669 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016341.3 +1 reviewed p.E2118D 1.000 140 0% 270 37% 15 46.6% benign(0.01) tolerated(0.1) neutral(0.287) NULL HELLS 3070 genome.wustl.edu 37 10 96333775 96333775 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018063.3 +1 reviewed p.S179L 1.000 93 0% 150 45.3% 2 50% possibly_damaging(0.761) deleterious(0.03) deleterious(0.646) superfamily_P-loop containing nucleoside triphosphate hydrolases HELLS 3070 genome.wustl.edu 37 10 96356659 96356659 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018063.3 +1 reviewed p.N764T 0.598 76 0% 51 35.3% 8 75% benign(0) tolerated(0.75) neutral(0.002) NULL HELLS 3070 genome.wustl.edu 37 10 96361316 96361316 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018063.3 +1 reviewed p.E818D 1.000 130 0% 141 23.4% 13 30.7% benign(0.016) tolerated(0.43) neutral(0.014) NULL CYP2C9 1559 genome.wustl.edu 37 10 96748691 96748691 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000771.3 +1 reviewed p.S460Y 0.005 265 0% 217 30.4% 1 0% benign(0.097) deleterious(0.01) neutral(0.413) HMMPfam_p450,superfamily_Cytochrome P450 CYP2C8 1558 genome.wustl.edu 37 10 96798783 96798783 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000770.3 -1 reviewed p.M388L 0.129 241 0.4% 246 35.4% 0 - benign(0) tolerated(0.46) neutral(0.012) HMMPfam_p450,superfamily_Cytochrome_P450 CYP2C8 1558 genome.wustl.edu 37 10 96802834 96802834 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000770.3 -1 reviewed p.A321D 0.924 237 0% 288 36.5% 2 0% benign(0.007) tolerated(0.14) neutral(0.249) HMMPfam_p450,superfamily_Cytochrome_P450 CYP2C8 1558 genome.wustl.edu 37 10 96818110 96818110 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000770.3 -1 reviewed p.F267 1.000 269 0% 239 33.1% 0 - - - - HMMPfam_p450,superfamily_Cytochrome_P450 C10orf129 142827 genome.wustl.edu 37 10 96988429 96988429 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_207321.2 +1 validated p.R444I 0.957 284 0% 578 33% 0 - benign(0.023) tolerated(0.39) neutral(0.017) superfamily_Acetyl-CoA synthetase-like SORBS1 10580 genome.wustl.edu 37 10 97197274 97197274 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001034954.1 -1 validated p.A17T 1.000 307 0% 436 31% 1 0% benign(0.094) deleterious(0.01) neutral(0.413) NULL CC2D2B 387707 genome.wustl.edu 37 10 97787034 97787034 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000451649 +1 known p.R302Q 1.000 302 0% 311 30.2% 0 - probably_damaging(0.975) tolerated(0.07) deleterious(0.736) NULL ZNF518A 9849 genome.wustl.edu 37 10 97917720 97917720 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000371192 +1 known p.E547D 0.043 89 0% 97 39.2% 2 50% - - - NULL BLNK 29760 genome.wustl.edu 37 10 97966775 97966775 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013314.3 -1 reviewed p.V270A 0.627 231 0% 234 27.4% 4 25% benign(0.21) tolerated(0.28) neutral(0.052) NULL TLL2 7093 genome.wustl.edu 37 10 98146741 98146741 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012465.3 -1 validated p.Y607 0.756 88 0% 91 30.8% 0 - - - - HMMSmart_EGF_CA,PatternScan_EGF_2,HMMPfam_EGF_CA,superfamily_SSF57196 TLL2 7093 genome.wustl.edu 37 10 98192690 98192690 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012465.3 -1 validated p.S132R 0.003 145 0% 182 28.6% 0 - benign(0.011) tolerated(0.73) neutral(0.002) NULL PIK3AP1 118788 genome.wustl.edu 37 10 98386470 98386470 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152309.2 -1 validated p.F555C 1.000 120 0% 195 32.3% 0 - benign(0) tolerated(0.17) neutral(0.059) NULL PIK3AP1 118788 genome.wustl.edu 37 10 98386618 98386618 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152309.2 -1 validated p.L506I 0.000 127 0% 180 38.3% 2 0% benign(0.024) tolerated(0.49) neutral(0.011) NULL PIK3AP1 118788 genome.wustl.edu 37 10 98416630 98416630 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152309.2 -1 validated p.S164 0.025 78 0% 109 33% 0 - - - - NULL SLIT1 6585 genome.wustl.edu 37 10 98807748 98807748 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003061.2 -1 validated p.E491* 1.000 112 0% 142 25.4% 0 - - - - superfamily_L domain-like SLIT1 6585 genome.wustl.edu 37 10 98808794 98808794 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003061.2 -1 validated p.T461 0.114 54 0% 51 25.5% 0 - - - - HMMSmart_SM00082,superfamily_L domain-like EXOSC1 51013 genome.wustl.edu 37 10 99196982 99196982 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016046.3 -1 validated p.N149 0.892 82 0% 165 34.5% 105 41.9% - - - NULL MMS19 64210 genome.wustl.edu 37 10 99226621 99226621 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000434538 -1 known p.A20V 0.995 119 0% 190 28.9% 28 35.7% - - - superfamily_ARM repeat MORN4 118812 genome.wustl.edu 37 10 99377006 99377006 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001098831.1 -1 validated p.L47 0.945 116 0% 279 32.6% 7 42.8% - - - HMMPfam_MORN,HMMSmart_SM00698,superfamily_Histone H3 K4-specific methyltransferase SET7/9 N-terminal domain GOLGA7B 401647 genome.wustl.edu 37 10 99619229 99619229 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001010917.1 +1 provisional p.Q9H 1.000 96 0% 108 33.3% 0 - probably_damaging(0.982) deleterious(0.01) deleterious(0.832) NULL CRTAC1 55118 genome.wustl.edu 37 10 99643977 99643977 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018058.4 -1 validated p.P540T 0.035 102 0% 94 36.2% 0 - benign(0) tolerated(0.16) neutral(0.059) NULL C10orf28 27291 genome.wustl.edu 37 10 99969543 99969543 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014472.4 +1 validated p.E558K 0.118 114 0% 138 30.4% 4 25% benign(0.139) tolerated(0.07) neutral(0.331) NULL LOXL4 84171 genome.wustl.edu 37 10 100019157 100019157 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032211.6 -1 reviewed p.P231L 1.000 150 0% 212 36.3% 0 - probably_damaging(0.996) tolerated(0.09) deleterious(0.758) HMMPfam_SRCR,HMMSmart_SM00202,superfamily_SRCR-like HPSE2 60495 genome.wustl.edu 37 10 100401613 100401613 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021828.4 -1 reviewed p.K363N 1.000 250 0% 284 32.7% 0 - probably_damaging(0.99) tolerated(0.25) deleterious(0.478) HMMPfam_Glyco_hydro_79n CNNM1 26507 genome.wustl.edu 37 10 101120664 101120664 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020348.2 +1 validated p.S597L 0.999 109 0% 139 31.7% 0 - probably_damaging(0.991) tolerated(0.17) deleterious(0.503) NULL CUTC 51076 genome.wustl.edu 37 10 101492143 101492143 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015960.2 +1 validated p.A13V 0.320 21 0% 32 37.5% 8 37.5% benign(0.013) deleterious(0) neutral(0.445) NULL CUTC 51076 genome.wustl.edu 37 10 101507134 101507134 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015960.2 +1 validated p.R187Q 0.997 235 0% 336 34.5% 7 57.1% benign(0.002) tolerated(0.3) neutral(0.029) HMMPfam_CutC,superfamily_CutC-like (Pfam 03932) ABCC2 1244 genome.wustl.edu 37 10 101578906 101578906 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000392.3 +1 reviewed p.L834M 0.264 139 0% 191 31.9% 0 - benign(0.031) tolerated(0.38) neutral(0.019) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCC2 1244 genome.wustl.edu 37 10 101578977 101578977 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000392.3 +1 reviewed p.K857N 1.000 111 0% 153 34% 0 - benign(0.11) deleterious(0.01) neutral(0.414) NULL ABCC2 1244 genome.wustl.edu 37 10 101594172 101594172 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000392.3 +1 reviewed p.S1098 0.879 265 0% 385 24.7% 0 - - - - HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain CPN1 1369 genome.wustl.edu 37 10 101816879 101816879 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001308.2 -1 reviewed p.N301S 1.000 47 0% 87 31% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Peptidase_M14,HMMSmart_SM00631,superfamily_Zn-dependent exopeptidases CHUK 1147 genome.wustl.edu 37 10 101982694 101982694 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001278.3 -1 reviewed p.E82K 1.000 168 0% 268 31% 3 66.6% benign(0.045) tolerated(0.19) neutral(0.052) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase BLOC1S2 282991 genome.wustl.edu 37 10 102039907 102039907 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173809.2 -1 validated p.K124T 1.000 91 0% 145 26.2% 33 36.3% probably_damaging(0.955) deleterious(0.03) deleterious(0.763) HMMPfam_BLOC1_2 PAX2 5076 genome.wustl.edu 37 10 102541073 102541073 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003988.3 +1 reviewed p.G189 1.000 293 0% 465 35.1% 0 - unknown(0) - - NULL FAM178A 55719 genome.wustl.edu 37 10 102676961 102676961 + Silent SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001136123.1 +1 validated p.L273 0.993 60 0% 108 35.2% 3 33.3% - - - NULL FAM178A 55719 genome.wustl.edu 37 10 102676969 102676969 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001136123.1 +1 validated p.K276T 0.925 55 0% 102 31.4% 2 0% probably_damaging(0.971) deleterious(0.01) deleterious(0.819) NULL FAM178A 55719 genome.wustl.edu 37 10 102678181 102678181 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001136123.1 +1 validated p.S319* 1.000 135 0% 119 29.4% 1 100% - - - NULL FAM178A 55719 genome.wustl.edu 37 10 102684373 102684373 + Nonsense_Mutation SNP A A T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001136123.1 +1 validated p.K539* 0.971 71 1.4% 122 32% 1 0% - - - NULL SEMA4G 57715 genome.wustl.edu 37 10 102737461 102737461 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017893.2 +1 reviewed p.A137T 1.000 253 0% 285 33.3% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema C10orf2 56652 genome.wustl.edu 37 10 102749105 102749105 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021830.4 +1 reviewed p.E380* 1.000 42 0% 73 31.5% 7 28.5% - - - NULL SFXN3 81855 genome.wustl.edu 37 10 102795738 102795738 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000436746 +1 known p.S112I 0.001 121 0% 177 44.1% 0 - - - - HMMPfam_Mtc BTRC 8945 genome.wustl.edu 37 10 103296370 103296370 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033637.2 +1 reviewed p.R513* 1.000 301 0% 635 32.1% 4 0% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 NPM3 10360 genome.wustl.edu 37 10 103542277 103542277 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006993.2 -1 reviewed p.I94 0.984 216 0% 315 33.7% 120 37.5% - - - HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin MGEA5 10724 genome.wustl.edu 37 10 103551148 103551148 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012215.3 -1 validated p.L742V 1.000 122 0% 263 37.3% 36 58.3% benign(0.001) tolerated(0.54) neutral(0.007) superfamily_Acyl-CoA N-acyltransferases (Nat) HPS6 79803 genome.wustl.edu 37 10 103826015 103826015 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024747.4 +1 reviewed p.L262 0.686 23 0% 24 33.3% 22 31.8% - - - NULL PPRC1 23082 genome.wustl.edu 37 10 103908961 103908961 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015062.3 +1 reviewed p.R1589H 1.000 116 0% 177 24.9% 59 22% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD ELOVL3 83401 genome.wustl.edu 37 10 103988684 103988684 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152310.1 +1 provisional p.K163T 0.007 96 0% 175 36% 0 - benign(0) tolerated(0.17) neutral(0.059) HMMPfam_ELO GBF1 8729 genome.wustl.edu 37 10 104130495 104130495 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004193.1 +1 provisional p.R1179* 1.000 252 0% 412 31.8% 33 6% - - - NULL NFKB2 4791 genome.wustl.edu 37 10 104161211 104161211 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001077494.1 +1 validated p.K743N 1.000 86 0% 111 36% 71 33.8% probably_damaging(0.978) tolerated(0.2) deleterious(0.469) NULL PSD 5662 genome.wustl.edu 37 10 104164802 104164802 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002779.3 -1 provisional p.K803T 1.000 68 0% 93 36.6% 20 0% benign(0.004) tolerated(0.07) neutral(0.319) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like PSD 5662 genome.wustl.edu 37 10 104173861 104173861 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002779.3 -1 provisional p.F406 1.000 39 0% 88 36.4% 0 - - - - NULL SUFU 51684 genome.wustl.edu 37 10 104356918 104356918 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016169.3 +1 reviewed p.E260K 1.000 99 0% 140 37.9% 6 66.6% benign(0.016) tolerated(0.17) neutral(0.059) HMMPfam_SUFU,superfamily_Suppressor of Fused N-terminal domain AS3MT 57412 genome.wustl.edu 37 10 104650348 104650348 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000369880 +1 known p.K311N 1.000 101 0% 212 35.8% 3 0% benign(0.019) tolerated(0.16) neutral(0.060) NULL CNNM2 54805 genome.wustl.edu 37 10 104678990 104678990 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017649.3 +1 validated p.F251L 1.000 13 0% 20 25% 8 50% benign(0.009) tolerated(0.57) neutral(0.007) NULL CNNM2 54805 genome.wustl.edu 37 10 104679654 104679654 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017649.3 +1 validated p.I473L 1.000 90 0% 232 31% 10 10% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) HMMPfam_CBS CNNM2 54805 genome.wustl.edu 37 10 104835948 104835948 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017649.3 +1 validated p.N780T 1.000 112 0% 180 36.7% 14 21.4% benign(0.008) tolerated(0.58) neutral(0.005) NULL NT5C2 22978 genome.wustl.edu 37 10 104849642 104849642 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001134373.1 -1 validated p.E491 0.996 158 0.6% 262 35.1% 47 42.5% - - - HMMPfam_5_nucleotid LOC729020 729020 genome.wustl.edu 37 10 105005926 105005926 + Missense_Mutation SNP G G T rs61746133 byFrequency;by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001143909.1 +1 provisional p.R58L 0.104 184 0% 412 32.8% 3 0% - - - HMMPfam_Ribul_P_3_epim,superfamily_RibP_bind_barrel SLK 9748 genome.wustl.edu 37 10 105762247 105762247 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014720.2 +1 provisional p.E437D 0.981 114 0% 162 31.5% 3 66.6% benign(0.139) tolerated(0.34) neutral(0.035) superfamily_Protein kinase-like (PK-like) COL17A1 1308 genome.wustl.edu 37 10 105803329 105803329 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000494.3 -1 reviewed p.S815 0.009 54 0% 70 40% 1 100% - - - NULL COL17A1 1308 genome.wustl.edu 37 10 105815739 105815739 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000494.3 -1 reviewed p.K496N 0.023 83 0% 129 36.4% 1 0% unknown(0) deleterious(0) - NULL COL17A1 1308 genome.wustl.edu 37 10 105831820 105831820 + Nonsense_Mutation SNP G G A rs121912774 TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000494.3 -1 reviewed p.R145* 1.000 192 0% 253 31.6% 1 0% - - - NULL WDR96 80217 genome.wustl.edu 37 10 105920909 105920909 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000434629 -1 known p.N503S 0.595 310 0% 321 31.5% 0 - - - - NULL WDR96 80217 genome.wustl.edu 37 10 105926473 105926473 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025145.5 -1 provisional p.R938W 0.609 98 0% 124 33.9% 0 - probably_damaging(0.989) deleterious(0.01) deleterious(0.845) superfamily_WD40 repeat-like CCDC147 159686 genome.wustl.edu 37 10 106118141 106118141 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001008723.1 +1 validated p.E18* 1.000 91 0% 84 31% 0 - - - - NULL CCDC147 159686 genome.wustl.edu 37 10 106153215 106153215 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001008723.1 +1 validated p.K552N 1.000 86 0% 119 28.6% 0 - benign(0.171) tolerated(0.05) neutral(0.361) NULL CCDC147 159686 genome.wustl.edu 37 10 106166535 106166535 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001008723.1 +1 validated p.K747T 1.000 136 0% 171 16.4% 1 0% probably_damaging(0.988) tolerated(0.14) deleterious(0.687) NULL CCDC147 159686 genome.wustl.edu 37 10 106209949 106209949 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001008723.1 +1 validated p.E833* 1.000 70 0% 100 41% 0 - - - - NULL SORCS3 22986 genome.wustl.edu 37 10 106959780 106959780 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014978.1 +1 reviewed p.R678H 1.000 122 0% 125 35.2% 0 - possibly_damaging(0.895) tolerated(0.08) deleterious(0.653) HMMSmart_VPS10,superfamily_SSF110296 SORCS3 22986 genome.wustl.edu 37 10 106960988 106960988 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014978.1 +1 reviewed p.V746 0.999 123 0% 132 31.8% 0 - - - - HMMSmart_VPS10 SORCS1 114815 genome.wustl.edu 37 10 108434809 108434809 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001013031.1 -1 reviewed p.M646I 1.000 165 0% 194 34% 0 - benign(0.078) tolerated(0.14) neutral(0.255) HMMSmart_VPS10,superfamily_SSF110296 ADD3 120 genome.wustl.edu 37 10 111860477 111860477 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016824.3 +1 reviewed p.E22D 1.000 105 1% 137 38% 3 33.3% probably_damaging(0.987) deleterious(0.02) deleterious(0.820) NULL ADD3 120 genome.wustl.edu 37 10 111890220 111890220 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016824.3 +1 reviewed p.E570K 1.000 119 0% 248 32.3% 6 50% possibly_damaging(0.749) deleterious(0) deleterious(0.720) NULL DUSP5 1847 genome.wustl.edu 37 10 112269830 112269830 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004419.3 +1 reviewed p.I267 1.000 26 0% 46 39.1% 10 0% - - - HMMPfam_DSPc,PatternScan_TYR_PHOSPHATASE_1,HMMSmart_DSPc,superfamily_SSF52799 SMC3 9126 genome.wustl.edu 37 10 112338427 112338427 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005445.3 +1 reviewed p.S131Y 1.000 276 0% 369 33.3% 7 28.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases SMC3 9126 genome.wustl.edu 37 10 112361730 112361730 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005445.3 +1 reviewed p.R967* 1.000 59 0% 74 36.5% 25 16% - - - HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases SHOC2 8036 genome.wustl.edu 37 10 112769582 112769582 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007373.3 +1 reviewed p.E512* 1.000 96 0% 116 25.9% 13 23% - - - HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00364,HMMSmart_SM00365,superfamily_L domain-like ADRA2A 150 genome.wustl.edu 37 10 112838248 112838248 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000681.3 +1 reviewed p.I165T 1.000 78 0% 86 32.6% 2 0% probably_damaging(0.976) deleterious(0.01) deleterious(0.824) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like GPAM 57678 genome.wustl.edu 37 10 113913340 113913340 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020918.4 -1 validated p.L819I 1.000 200 0% 210 35.2% 2 50% probably_damaging(0.995) tolerated(0.42) deleterious(0.472) NULL TECTB 6975 genome.wustl.edu 37 10 114044301 114044301 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_058222.1 +1 provisional p.L29I 1.000 100 0% 139 30.9% 0 - benign(0.008) tolerated(0.4) neutral(0.016) HMMPfam_Zona_pellucida TECTB 6975 genome.wustl.edu 37 10 114061878 114061878 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_058222.1 +1 provisional p.L309 0.456 435 0% 481 34.3% 0 - - - - NULL TCF7L2 6934 genome.wustl.edu 37 10 114910865 114910865 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030756.4 +1 reviewed p.V305 0.998 185 0% 275 34.9% 16 50% - - - NULL TCF7L2 6934 genome.wustl.edu 37 10 114910882 114910882 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030756.4 +1 reviewed p.S311L 1.000 172 0% 233 36.9% 13 46.1% benign(0.002) tolerated(0.18) neutral(0.056) NULL NRAP 4892 genome.wustl.edu 37 10 115401232 115401232 + Splice_Site SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198060.2 -1 validated e13-1 1.000 246 0% 250 36% 0 - - - - - ADRB1 153 genome.wustl.edu 37 10 115804449 115804449 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000684.2 +1 reviewed p.S186 0.342 37 0% 37 51.4% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like C10orf118 55088 genome.wustl.edu 37 10 115895996 115895996 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018017.2 -1 validated p.E446* 1.000 324 0% 352 33.2% 1 0% - - - NULL TDRD1 56165 genome.wustl.edu 37 10 115970722 115970722 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198795.1 +1 reviewed p.F552 1.000 233 0% 255 36.5% 0 - - - - HMMSmart_TUDOR,HMMPfam_TUDOR,superfamily_SSF63748 TDRD1 56165 genome.wustl.edu 37 10 115986970 115986970 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198795.1 +1 reviewed p.E1105D 0.970 125 0.8% 199 34.7% 0 - benign(0.183) tolerated(0.18) neutral(0.073) NULL VWA2 340706 genome.wustl.edu 37 10 116049087 116049087 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198496.1 +1 provisional p.K654T 1.000 111 0% 155 28.4% 23 47.8% probably_damaging(0.998) tolerated(0.06) deleterious(0.797) HMMPfam_VWA,HMMSmart_VWA,superfamily_SSF53300 FAM160B1 57700 genome.wustl.edu 37 10 116606013 116606013 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020940.3 +1 validated p.E429* 1.000 167 0% 312 36.2% 6 16.6% - - - HMMPfam_RAI16-like TRUB1 142940 genome.wustl.edu 37 10 116731930 116731930 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_139169.4 +1 validated p.S211 0.965 183 0% 194 31.4% 5 20% - - - HMMPfam_TruB_N,superfamily_PsdUridine_synth_cat_dom ATRNL1 26033 genome.wustl.edu 37 10 116879956 116879956 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_207303.2 +1 validated p.E101* 1.000 62 0% 44 36.4% 2 0% - - - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain ATRNL1 26033 genome.wustl.edu 37 10 117704253 117704253 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_207303.2 +1 validated p.R1368Q 1.000 163 0% 108 23.1% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL PNLIPRP3 119548 genome.wustl.edu 37 10 118220538 118220538 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001011709.2 +1 validated p.S209L 0.101 217 0% 315 29.5% 0 - possibly_damaging(0.907) deleterious(0) deleterious(0.805) HMMPfam_Lipase,superfamily_alpha/beta-Hydrolases PNLIPRP2 5408 genome.wustl.edu 37 10 118401676 118401676 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005396.4 +1 validated p.L411V 0.002 145 0% 166 34.3% 0 - possibly_damaging(0.436) tolerated(0.16) neutral(0.201) NULL KIAA1598 57698 genome.wustl.edu 37 10 118708485 118708485 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001127211.1 -1 validated p.K186N 0.996 166 0% 141 34.8% 1 100% benign(0.003) tolerated(0.5) neutral(0.010) NULL VAX1 11023 genome.wustl.edu 37 10 118893611 118893611 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001112704.1 -1 reviewed p.E305* 1.000 50 0% 41 36.6% 0 - - - - NULL VAX1 11023 genome.wustl.edu 37 10 118896116 118896116 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001112704.1 -1 reviewed p.R99Q 1.000 26 0% 25 36% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Homeodomain-like SLC18A2 6571 genome.wustl.edu 37 10 119015156 119015156 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003054.4 +1 reviewed p.L295I 1.000 88 0% 98 28.6% 0 - benign(0.09) tolerated(0.38) neutral(0.024) HMMPfam_MFS_1,superfamily_MFS general substrate transporter PDZD8 118987 genome.wustl.edu 37 10 119043231 119043231 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173791.3 -1 provisional p.E1005* 1.000 218 0% 277 34.7% 41 46.3% - - - NULL RAB11FIP2 22841 genome.wustl.edu 37 10 119805441 119805441 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014904.2 -1 validated p.E78D 1.000 231 0% 300 32.7% 0 - benign(0.009) tolerated(0.26) neutral(0.035) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB LOC100287264 100287264 genome.wustl.edu 37 10 120354412 120354412 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002343034.1 +1 model p.R221W 0.678 18 0% 19 36.8% 0 - - - - NULL EIF3A 8661 genome.wustl.edu 37 10 120795664 120795664 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003750.2 -1 validated p.E1346* 1.000 160 0% 337 30% 135 45.9% - - - NULL EIF3A 8661 genome.wustl.edu 37 10 120802033 120802033 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003750.2 -1 validated p.R1000Q 0.996 186 0% 267 34.1% 164 51.8% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL GRK5 2869 genome.wustl.edu 37 10 121140377 121140377 + Missense_Mutation SNP T T A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005308.2 +1 reviewed p.F67I 1.000 166 0% 313 37.7% 8 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_RGS,HMMSmart_RGS,superfamily_Regulat_G_prot_signal_superfam RGS10 6001 genome.wustl.edu 37 10 121286825 121286825 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005339.1 -1 reviewed p.R54I 1.000 82 0% 189 33.9% 27 33.3% benign(0.041) tolerated(0.35) neutral(0.023) HMMPfam_RGS,HMMSmart_RGS,superfamily_Regulat_G_prot_signal_superfam TIAL1 7073 genome.wustl.edu 37 10 121336538 121336538 + Nonstop_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000369092 -1 known p.*266Y 0.000 59 0% 116 30.2% 6 16.6% - - - NULL SEC23IP 11196 genome.wustl.edu 37 10 121658165 121658165 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007190.2 +1 reviewed p.S130 0.000 125 0% 216 38.9% 11 36.3% - - - NULL FGFR2 2263 genome.wustl.edu 37 10 123245037 123245037 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022970.3 -1 reviewed p.F690 0.986 115 0% 151 37.1% 4 25% - - - HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like TACC2 10579 genome.wustl.edu 37 10 123842206 123842206 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_206862.2 +1 reviewed p.S64I 0.003 90 0% 76 28.9% 2 0% possibly_damaging(0.922) deleterious(0) deleterious(0.816) NULL TACC2 10579 genome.wustl.edu 37 10 123842909 123842909 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_206862.2 +1 reviewed p.Q298H 0.001 30 0% 72 31.9% 0 - possibly_damaging(0.855) deleterious(0.01) deleterious(0.736) NULL TACC2 10579 genome.wustl.edu 37 10 123843390 123843390 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_206862.2 +1 reviewed p.E459* 0.001 84 0% 170 38.8% 1 0% - - - NULL TACC2 10579 genome.wustl.edu 37 10 123844856 123844856 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_206862.2 +1 reviewed p.K947 0.000 70 0% 144 35.4% 3 66.6% - - - NULL TACC2 10579 genome.wustl.edu 37 10 123844926 123844926 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_206862.2 +1 reviewed p.D971Y 0.002 37 0% 90 43.3% 3 100% possibly_damaging(0.926) deleterious(0) deleterious(0.819) NULL DMBT1 1755 genome.wustl.edu 37 10 124339169 124339169 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007329.2 +1 reviewed p.R252Q 0.004 371 0.3% 541 36.8% 0 - benign(0.056) tolerated(1) neutral(0.004) HMMPfam_SRCR,PatternScan_SRCR_1,HMMSmart_SM00202,superfamily_SRCR-like DMBT1 1755 genome.wustl.edu 37 10 124341319 124341319 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007329.2 +1 reviewed p.P348 0.000 1013 0.1% 1554 17.7% 0 - - - - NULL DMBT1 1755 genome.wustl.edu 37 10 124377590 124377590 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007329.2 +1 reviewed p.R1521Q 0.986 376 0% 537 31.5% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_SRCR,PatternScan_SRCR_1,HMMSmart_SM00202,superfamily_SRCR-like DMBT1 1755 genome.wustl.edu 37 10 124380872 124380872 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007329.2 +1 reviewed p.E1733K 0.973 232 0% 262 32.4% 0 - probably_damaging(0.999) tolerated(0.06) deleterious(0.813) HMMPfam_SRCR,HMMSmart_SM00202,superfamily_SRCR-like DMBT1 1755 genome.wustl.edu 37 10 124390636 124390636 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007329.2 +1 reviewed p.V1933A 0.151 215 0% 318 36.8% 0 - possibly_damaging(0.476) tolerated(0.09) neutral(0.454) HMMPfam_SRCR,HMMSmart_SM00202,superfamily_SRCR-like C10orf88 80007 genome.wustl.edu 37 10 124708295 124708295 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024942.3 -1 validated p.S173Y 0.017 139 0% 150 39.3% 4 0% benign(0.004) tolerated(0.18) neutral(0.056) NULL PSTK 118672 genome.wustl.edu 37 10 124742896 124742896 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153336.2 +1 validated p.G206E 0.000 143 0% 201 37.8% 4 50% benign(0) tolerated(1) - HMMPfam_KTI12,superfamily_P-loop containing nucleoside triphosphate hydrolases IKZF5 64376 genome.wustl.edu 37 10 124753794 124753794 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022466.5 -1 provisional p.Q254H 1.000 172 0% 323 35.3% 5 20% probably_damaging(0.996) tolerated(0.11) deleterious(0.733) NULL ACADSB 36 genome.wustl.edu 37 10 124802675 124802675 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001609.3 +1 reviewed p.F265 1.000 173 0% 223 30.5% 2 0% - - - superfamily_Acyl-CoA dehydrogenase NM domain-like CPXM2 119587 genome.wustl.edu 37 10 125528214 125528214 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198148.2 -1 validated p.A376V 0.999 39 0% 53 35.8% 7 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Peptidase_M14,PatternScan_CARBOXYPEPT_ZN_1,superfamily_Zn-dependent exopeptidases CHST15 51363 genome.wustl.edu 37 10 125780868 125780868 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015892.2 -1 validated p.E417 0.586 101 0% 140 32.9% 2 100% - - - HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases CHST15 51363 genome.wustl.edu 37 10 125804295 125804295 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015892.2 -1 validated p.F229 0.910 148 0% 314 34.1% 3 0% - - - NULL ZRANB1 54764 genome.wustl.edu 37 10 126673439 126673439 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017580.2 +1 validated p.R669W 0.992 80 0% 86 32.6% 30 40% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL BCCIP 56647 genome.wustl.edu 37 10 127522501 127522501 + Nonsense_Mutation SNP G G T rs17153610 TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016567.3 +1 reviewed p.E254* 1.000 125 0% 176 33% 54 40.7% - - - NULL DHX32 55760 genome.wustl.edu 37 10 127527585 127527585 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018180.2 -1 reviewed p.S622 0.010 124 0% 209 29.7% 41 43.9% - - - HMMPfam_DUF1605 ADAM12 8038 genome.wustl.edu 37 10 127967504 127967504 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003474.4 -1 reviewed p.I80 0.839 422 0% 364 31.3% 1 0% - - - HMMPfam_Pep_M12B_propep NPS 594857 genome.wustl.edu 37 10 129350776 129350776 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001030013.1 +1 provisional p.R48I 0.197 276 0% 286 26.9% 0 - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL CLRN3 119467 genome.wustl.edu 37 10 129676611 129676611 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152311.3 -1 validated p.F161 0.000 134 0% 227 35.7% 0 - - - - NULL CLRN3 119467 genome.wustl.edu 37 10 129676676 129676676 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152311.3 -1 validated p.V140I 0.000 84 0% 169 37.9% 0 - benign(0.001) tolerated(0.2) neutral(0.049) NULL PTPRE 5791 genome.wustl.edu 37 10 129845728 129845728 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000439034 +1 known p.C74* 0.019 59 0% 38 31.6% 0 - - - - NULL PTPRE 5791 genome.wustl.edu 37 10 129866455 129866455 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006504.4 +1 reviewed p.F304 0.875 35 0% 61 37.7% 3 0% - - - HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II PTPRE 5791 genome.wustl.edu 37 10 129874922 129874922 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006504.4 +1 reviewed p.T552M 0.001 134 0% 187 25.1% 1 0% probably_damaging(0.982) tolerated(0.13) deleterious(0.679) HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II MKI67 4288 genome.wustl.edu 37 10 129907384 129907384 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002417.4 -1 reviewed p.R907I 0.002 304 0% 435 33.8% 5 40% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL EBF3 253738 genome.wustl.edu 37 10 131755558 131755558 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005463.1 -1 validated p.R173I 1.000 307 0.3% 398 30.9% 2 0% probably_damaging(0.977) deleterious(0) deleterious(0.863) NULL TCERG1L 256536 genome.wustl.edu 37 10 133107448 133107448 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_174937.3 -1 validated p.S153R 0.982 145 0% 222 30.6% 0 - benign(0.002) tolerated(0.37) neutral(0.019) NULL PPP2R2D 55844 genome.wustl.edu 37 10 133761289 133761289 + Missense_Mutation SNP C C T rs142846802 TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000455566 +1 known p.S328L 0.025 60 0% 58 25.9% 41 36.5% benign(0.254) deleterious(0) deleterious(0.471) HMMSmart_SM00320,superfamily_WD40 repeat-like JAKMIP3 282973 genome.wustl.edu 37 10 133978172 133978172 + Splice_Site SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001105521.2 +1 provisional e20-2 1.000 177 0% 310 24.5% 0 - - - - - DPYSL4 10570 genome.wustl.edu 37 10 134014421 134014421 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006426.2 +1 validated p.F348 1.000 89 0% 83 41% 2 50% - - - HMMPfam_Amidohydro_1,superfamily_Composite domain of metallo-dependent hydrolases,superfamily_Metallo-dependent hydrolases INPP5A 3632 genome.wustl.edu 37 10 134563295 134563295 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005539.3 +1 reviewed p.K283N 1.000 51 0% 94 26.6% 13 15.3% probably_damaging(0.998) tolerated(0.09) deleterious(0.771) HMMSmart_IPPc,HMMPfam_Exo_endo_phos,superfamily_Exo_endo_phos KNDC1 85442 genome.wustl.edu 37 10 135025185 135025185 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152643.6 +1 validated p.I1353 0.943 72 0% 69 26.1% 2 0% - - - HMMSmart_SM00229,superfamily_Ras GEF PRAP1 118471 genome.wustl.edu 37 10 135164935 135164935 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145202.4 +1 validated p.E42D 0.931 139 0% 191 28.8% 0 - probably_damaging(0.974) deleterious(0) deleterious(0.861) NULL PRAP1 118471 genome.wustl.edu 37 10 135165804 135165804 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145202.4 +1 validated p.E106K 0.979 60 0% 77 36.4% 2 0% possibly_damaging(0.922) deleterious(0) deleterious(0.816) NULL ECHS1 1892 genome.wustl.edu 37 10 135178183 135178183 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004092.3 -1 reviewed p.L262 0.997 215 0% 347 27.1% 268 35% - - - superfamily_SSF52096 ECHS1 1892 genome.wustl.edu 37 10 135183499 135183499 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004092.3 -1 reviewed p.F108C 1.000 175 0% 285 37.5% 166 39.7% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_ECH,superfamily_SSF52096 PAOX 196743 genome.wustl.edu 37 10 135197516 135197516 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152911.2 +1 validated p.E307D 0.905 96 0% 174 31.6% 2 50% benign(0.002) tolerated(0.44) neutral(0.013) HMMPfam_Amino_oxidase,superfamily_FAD/NAD(P)-binding domain MTG1 92170 genome.wustl.edu 37 10 135212723 135212723 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138384.2 +1 validated p.R138Q 1.000 78 0% 117 33.3% 52 51.9% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_P-loop containing nucleoside triphosphate hydrolases MTG1 92170 genome.wustl.edu 37 10 135233611 135233611 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138384.2 +1 validated p.S316F 0.508 72 0% 76 32.9% 104 47.1% benign(0.258) tolerated(0.1) neutral(0.314) NULL RIC8A 60626 genome.wustl.edu 37 11 209842 209842 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021932.4 +1 provisional p.R190C 0.043 51 0% 65 38.5% 42 40.4% possibly_damaging(0.739) deleterious(0.04) deleterious(0.619) HMMPfam_Ric8 PSMD13 5719 genome.wustl.edu 37 11 244732 244732 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_175932.2 +1 validated p.L125V 0.640 117 0% 284 35.6% 68 64.7% possibly_damaging(0.925) deleterious(0) deleterious(0.818) NULL PSMD13 5719 genome.wustl.edu 37 11 248825 248825 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_175932.2 +1 validated p.L208 0.989 117 0% 229 38.4% 130 10.7% - - - NULL NLRP6 171389 genome.wustl.edu 37 11 279849 279849 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138329.1 +1 provisional p.S109F 0.002 17 0% 28 32.1% 0 - possibly_damaging(0.509) tolerated(0.38) neutral(0.188) NULL IFITM3 10410 genome.wustl.edu 37 11 320720 320720 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021034.2 -1 validated p.L32M 0.000 75 0% 119 36.1% 797 0.5% benign(0.007) tolerated(0.14) neutral(0.249) NULL B4GALNT4 338707 genome.wustl.edu 37 11 379966 379966 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178537.4 +1 validated p.F863 0.968 39 0% 31 45.2% 5 0% - - - HMMPfam_CHGN,superfamily_SSF53448 B4GALNT4 338707 genome.wustl.edu 37 11 380313 380313 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178537.4 +1 validated p.L913I 1.000 40 2.5% 32 25% 5 20% possibly_damaging(0.943) deleterious(0.04) deleterious(0.736) HMMPfam_CHGN,superfamily_SSF53448 SIGIRR 59307 genome.wustl.edu 37 11 407872 407872 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001135053.1 -1 validated p.C142 0.911 32 0% 33 36.4% 53 35.8% unknown(0) deleterious(0.02) - NULL ANO9 338440 genome.wustl.edu 37 11 419588 419588 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001012302.2 -1 validated p.T643I 0.000 57 0% 94 36.2% 6 0% benign(0.246) tolerated(0.12) neutral(0.286) HMMPfam_DUF590 PHRF1 57661 genome.wustl.edu 37 11 591409 591409 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020901.2 +1 validated p.R149Q 0.999 264 0% 460 30.9% 16 50% benign(0.142) deleterious(0) neutral(0.457) superfamily_SSF57850 PHRF1 57661 genome.wustl.edu 37 11 607787 607787 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020901.2 +1 validated p.F776 0.483 18 0% 35 42.9% 22 40.9% - - - NULL DEAF1 10522 genome.wustl.edu 37 11 691531 691531 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021008.2 -1 validated p.A119 0.010 56 0% 80 35% 14 35.7% - - - NULL CHID1 66005 genome.wustl.edu 37 11 899390 899390 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142676.1 -1 validated p.F211 0.999 74 0% 127 33.1% 234 40.1% - - - HMMSmart_Glyco_18,superfamily_Glyco_hydro_cat MUC6 4588 genome.wustl.edu 37 11 1031685 1031685 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005961.2 -1 validated p.F135 0.892 56 0% 67 40.3% 1 100% - - - HMMPfam_VWD,HMMSmart_SM00216 MUC2 4583 genome.wustl.edu 37 11 1079701 1079701 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002457.2 +1 reviewed p.S306 0.187 17 0% 17 35.3% 0 - - - - superfamily_Serine proterase inhibitors MUC5B 727897 genome.wustl.edu 37 11 1267410 1267410 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002458.1 +1 validated p.P3103 0.000 277 0.4% 527 36.8% 0 - - - - NULL MUC5B 727897 genome.wustl.edu 37 11 1268763 1268763 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002458.1 +1 validated p.S3554 0.000 288 0% 413 31.2% 0 - - - - NULL MUC5B 727897 genome.wustl.edu 37 11 1270290 1270290 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002458.1 +1 validated p.Q4063 0.001 524 0% 937 19.2% 3 33.3% - - - NULL MUC5B 727897 genome.wustl.edu 37 11 1270556 1270556 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002458.1 +1 validated p.G4152D 0.016 269 0% 248 24.6% 1 0% unknown(0) - - NULL MUC5B 727897 genome.wustl.edu 37 11 1270585 1270585 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002458.1 +1 validated p.R4162S 0.008 234 0% 258 22.9% 0 - unknown(0) - - NULL MUC5B 727897 genome.wustl.edu 37 11 1274083 1274083 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002458.1 +1 validated p.C5033 0.058 53 0% 79 36.7% 1 0% - - - NULL KRTAP5-1 387264 genome.wustl.edu 37 11 1605952 1605952 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005922.1 -1 validated p.G176 1.000 86 0% 131 14.5% 1 0% - - - NULL TNNT3 7140 genome.wustl.edu 37 11 1944119 1944119 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006757.3 +1 reviewed p.E5D 1.000 132 0% 218 29.8% 0 - unknown(0) deleterious(0) - NULL TNNT3 7140 genome.wustl.edu 37 11 1955025 1955025 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006757.3 +1 reviewed p.R82 0.990 63 0% 133 42.1% 0 - - - - HMMPfam_Troponin MRPL23 6150 genome.wustl.edu 37 11 1977578 1977578 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021134.3 +1 reviewed p.L130 0.036 27 0% 43 37.2% 232 37.9% - - - NULL SLC22A18 5002 genome.wustl.edu 37 11 2943415 2943415 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000441077 +1 known p.S152L 0.000 60 0% 69 31.9% 9 0% - - - NULL NAP1L4 4676 genome.wustl.edu 37 11 2993398 2993398 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005969.3 -1 reviewed p.K83N 1.000 229 0% 336 37.2% 49 42.8% possibly_damaging(0.691) deleterious(0.04) deleterious(0.597) HMMPfam_NAP ZNF195 7748 genome.wustl.edu 37 11 3380849 3380849 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001130520.1 -1 validated p.E463D 0.973 154 0% 226 40.3% 25 52% benign(0.379) deleterious(0.01) deleterious(0.526) superfamily_C2H2 and C2HC zinc fingers ART5 116969 genome.wustl.edu 37 11 3661226 3661226 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001079536.1 -1 reviewed p.R145* 0.028 50 0% 92 35.9% 0 - - - - HMMPfam_ART,superfamily_ADP-ribosylation CHRNA10 57053 genome.wustl.edu 37 11 3691031 3691031 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020402.2 -1 provisional p.D68N 1.000 124 0% 197 34% 0 - possibly_damaging(0.93) deleterious(0) deleterious(0.821) HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD NUP98 4928 genome.wustl.edu 37 11 3744669 3744669 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016320.4 -1 reviewed p.K622E 1.000 125 0% 231 37.7% 11 18.1% benign(0.023) tolerated(0.51) neutral(0.010) NULL TRIM21 6737 genome.wustl.edu 37 11 4411571 4411571 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003141.3 -1 reviewed p.F23 0.021 46 0% 55 36.4% 14 28.5% - - - HMMSmart_RING,HMMPfam_zf-C3HC4,superfamily_SSF57850 OR52K2 119774 genome.wustl.edu 37 11 4471491 4471491 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005172.2 +1 validated p.V308L 0.054 200 0% 266 32% 0 - benign(0) tolerated(0.96) - superfamily_Family A G protein-coupled receptor-like ENSG00000225101 0 genome.wustl.edu 37 11 4496741 4496741 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000416879 +1 known p.R18H 0.031 157 0% 182 31.3% 1 0% - - - superfamily_Family A G protein-coupled receptor-like OR51E1 143503 genome.wustl.edu 37 11 4674429 4674429 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152430.3 +1 validated p.L225I 1.000 396 0% 537 33.5% 0 - possibly_damaging(0.584) tolerated(0.19) neutral(0.251) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR51F2 119694 genome.wustl.edu 37 11 4843076 4843076 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004753.1 +1 provisional p.R154Q 0.002 217 0% 192 31.2% 0 - probably_damaging(0.997) tolerated(0.24) deleterious(0.504) HMMPfam_7tm_1,superfamily_SSF81321 OR51F2 119694 genome.wustl.edu 37 11 4843089 4843089 + Silent SNP T T A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004753.1 +1 provisional p.I158 0.039 208 0% 181 33.1% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR51T1 401665 genome.wustl.edu 37 11 4903446 4903446 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004759.1 +1 provisional p.V133G 0.013 392 0% 348 33% 0 - possibly_damaging(0.861) deleterious(0) deleterious(0.778) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR51T1 401665 genome.wustl.edu 37 11 4903992 4903992 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004759.1 +1 provisional p.V315A 0.981 235 0% 156 28.2% 0 - probably_damaging(0.974) tolerated(0.07) deleterious(0.735) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR51G2 81282 genome.wustl.edu 37 11 4936359 4936359 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005238.1 -1 provisional p.L179I 0.974 132 0% 201 32.8% 0 - possibly_damaging(0.896) tolerated(0.12) deleterious(0.614) HMMPfam_7tm_1,superfamily_SSF81321 OR51A2 401667 genome.wustl.edu 37 11 4976291 4976291 + Missense_Mutation SNP G G T rs55889636 byCluster;by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004748.1 -1 provisional p.S218Y 0.881 322 0% 344 28.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 OR51A2 401667 genome.wustl.edu 37 11 4976494 4976494 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004748.1 -1 provisional p.F150 0.000 205 0% 252 32.5% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR51A2 401667 genome.wustl.edu 37 11 4976610 4976610 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004748.1 -1 provisional p.L112M 0.005 200 0% 227 33.9% 0 - benign(0) tolerated(1) - HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 OR51V1 283111 genome.wustl.edu 37 11 5221893 5221893 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004760.2 -1 validated p.P13H 0.002 103 0% 137 23.4% 0 - unknown(0) tolerated(0.06) - NULL HBG1 3047 genome.wustl.edu 37 11 5270968 5270968 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000559.2 -1 reviewed p.D23Y 0.039 585 0% 730 18.9% 0 - possibly_damaging(0.459) deleterious(0) deleterious(0.595) HMMPfam_Globin,superfamily_Globin-like OR51B6 390058 genome.wustl.edu 37 11 5373264 5373264 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004750.1 +1 provisional p.F176S 0.986 362 0% 341 31.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_7tm_1,superfamily_SSF81321 OR51B6 390058 genome.wustl.edu 37 11 5373395 5373395 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004750.1 +1 provisional p.L220I 0.996 401 0.2% 468 33.1% 0 - possibly_damaging(0.54) tolerated(0.18) neutral(0.239) HMMPfam_7tm_1,superfamily_SSF81321 OR51M1 390059 genome.wustl.edu 37 11 5410760 5410760 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004756.2 +1 validated p.F44L 0.000 280 0% 372 30.6% 0 - probably_damaging(0.955) tolerated(0.16) neutral(0.458) superfamily_Family A G protein-coupled receptor-like OR51M1 390059 genome.wustl.edu 37 11 5410940 5410940 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004756.2 +1 validated p.I104 0.305 228 0% 282 32.3% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR51Q1 390061 genome.wustl.edu 37 11 5444111 5444111 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004757.2 +1 validated p.I227 0.000 161 0% 179 34.1% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR51Q1 390061 genome.wustl.edu 37 11 5444261 5444261 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004757.2 +1 validated p.I277 0.129 102 0% 109 25.7% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR51I2 390064 genome.wustl.edu 37 11 5474918 5474918 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004754.2 +1 validated p.S67F 0.995 165 0% 172 34.3% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_7tm_1,superfamily_SSF81321 UBQLN3 50613 genome.wustl.edu 37 11 5529304 5529304 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017481.2 -1 reviewed p.P495 0.044 61 0% 62 25.8% 0 - - - - NULL UBQLNL 143630 genome.wustl.edu 37 11 5536513 5536513 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145053.4 -1 validated p.E387K 0.000 449 0% 641 34.6% 0 - probably_damaging(0.957) tolerated(0.12) deleterious(0.661) NULL UBQLNL 143630 genome.wustl.edu 37 11 5536528 5536528 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145053.4 -1 validated p.A382T 0.001 494 0% 651 33% 0 - possibly_damaging(0.689) deleterious(0.05) deleterious(0.592) NULL TRIM6-TRIM34 445372 genome.wustl.edu 37 11 5626762 5626762 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001003819.2 +1 reviewed p.R267C 0.331 104 0% 194 34% 0 - possibly_damaging(0.838) tolerated(0.05) deleterious(0.665) NULL TRIM34 53840 genome.wustl.edu 37 11 5662429 5662429 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_130390.2 +1 reviewed p.W261* 0.586 434 0% 748 35.7% 0 - - - - NULL TRIM6-TRIM34 445372 genome.wustl.edu 37 11 5664631 5664631 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001003819.2 +1 reviewed p.L741I 0.013 152 0% 226 32.7% 2 0% benign(0.001) tolerated(0.31) neutral(0.027) HMMPfam_SPRY,HMMSmart_SPRY OR56B1 387748 genome.wustl.edu 37 11 5758225 5758225 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005180.1 +1 provisional p.R160I 0.994 266 0% 299 29.8% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_7tm_1,superfamily_SSF81321 OR52N4 390072 genome.wustl.edu 37 11 5776816 5776816 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005175.2 +1 validated p.I282 0.033 302 0% 281 30.6% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR52L1 338751 genome.wustl.edu 37 11 6007469 6007469 + Missense_Mutation SNP G G A rs141030184 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005173.2 -1 validated p.A231V 0.383 164 0% 234 40.2% 0 - benign(0) tolerated(0.21) neutral(0.044) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR52L2P 79274 genome.wustl.edu 37 11 6078955 6078955 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000316540 -1 known p.L184R 0.267 108 0% 119 38.7% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR56B4 196335 genome.wustl.edu 37 11 6129055 6129055 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005181.1 +1 provisional p.S16F 0.000 91 0% 148 27.7% 0 - probably_damaging(0.99) deleterious(0.02) deleterious(0.825) superfamily_SSF81321 OR52W1 120787 genome.wustl.edu 37 11 6220604 6220605 + Frame_Shift_Ins INS - - A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005178.1 +1 provisional p.P51fs 0.000:0.000 - - - - - - - - - HMMPfam_7tm_1,superfamily_SSF81321 C11orf42 160298 genome.wustl.edu 37 11 6232257 6232257 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173525.2 +1 validated p.F329 1.000 38 0% 23 26.1% 1 0% - - - NULL FAM160A2 84067 genome.wustl.edu 37 11 6238727 6238727 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032127.3 -1 validated p.E711* 0.997 78 0% 105 30.5% 22 27.2% - - - NULL FAM160A2 84067 genome.wustl.edu 37 11 6243764 6243764 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032127.3 -1 validated p.L367F 1.000 190 0% 361 32.7% 19 10.5% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_RAI16-like FAM160A2 84067 genome.wustl.edu 37 11 6245214 6245214 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032127.3 -1 validated p.E135* 1.000 44 0% 27 33.3% 14 50% - - - HMMPfam_RAI16-like CNGA4 1262 genome.wustl.edu 37 11 6265271 6265271 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001037329.2 +1 validated p.L454 1.000 78 0% 103 33% 0 - - - - HMMPfam_cNMP_binding,HMMSmart_SM00100,superfamily_cAMP-binding domain-like SMPD1 6609 genome.wustl.edu 37 11 6415691 6415691 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000543.3 +1 reviewed p.E584K 0.964 75 0% 77 36.4% 53 22.6% benign(0.159) tolerated(0.36) neutral(0.034) NULL DNHD1 144132 genome.wustl.edu 37 11 6579361 6579361 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144666.2 +1 provisional p.P2946S 0.966 88 0% 114 30.7% 0 - probably_damaging(0.999) tolerated(0.32) deleterious(0.514) NULL DNHD1 144132 genome.wustl.edu 37 11 6585118 6585118 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144666.2 +1 provisional p.L3350 0.994 35 0% 30 36.7% 0 - - - - NULL TPP1 1200 genome.wustl.edu 37 11 6636774 6636774 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000391.3 -1 reviewed p.G389R 1.000 161 0% 281 32.7% 55 45.4% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Subtilisin-like DCHS1 8642 genome.wustl.edu 37 11 6651021 6651021 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003737.2 -1 reviewed p.V1639 0.242 23 0% 29 37.9% 1 0% - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin DCHS1 8642 genome.wustl.edu 37 11 6655525 6655525 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003737.2 -1 reviewed p.D604N 1.000 72 0% 99 32.3% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin DCHS1 8642 genome.wustl.edu 37 11 6662628 6662628 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003737.2 -1 reviewed p.A73S 0.529 16 0% 19 31.6% 1 0% benign(0.007) tolerated(0.84) neutral(0.001) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin OR2AG2 338755 genome.wustl.edu 37 11 6789367 6789367 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004490.1 -1 provisional p.I274 0.997 300 0% 531 33.7% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR6A2 8590 genome.wustl.edu 37 11 6816425 6816425 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003696.2 -1 provisional p.S172Y 0.173 125 0% 158 23.4% 0 - possibly_damaging(0.86) deleterious(0.05) deleterious(0.678) HMMPfam_7tm_1,superfamily_SSF81321 OR10A5 144124 genome.wustl.edu 37 11 6867597 6867597 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178168.1 +1 provisional p.K228N 0.998 331 0% 446 31.2% 0 - benign(0.001) deleterious(0.01) neutral(0.406) HMMPfam_7tm_1,superfamily_SSF81321 OR10A4 283297 genome.wustl.edu 37 11 6898503 6898503 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_207186.2 +1 validated p.L209I 1.000 245 0% 291 36.1% 0 - benign(0.018) tolerated(0.16) neutral(0.060) HMMPfam_7tm_1,superfamily_SSF81321 OR2D2 120776 genome.wustl.edu 37 11 6913545 6913545 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003700.1 -1 provisional p.L63I 0.996 160 0% 199 31.7% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_7tm_1,superfamily_SSF81321 ZNF215 7762 genome.wustl.edu 37 11 6977395 6977395 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013250.2 +1 validated p.R396Q 0.004 125 0% 123 37.4% 0 - probably_damaging(0.999) tolerated(0.59) deleterious(0.495) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers NLRP14 338323 genome.wustl.edu 37 11 7064670 7064670 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_176822.3 +1 reviewed p.E471 0.004 130 0% 140 38.6% 0 - - - - NULL OLFML1 283298 genome.wustl.edu 37 11 7507122 7507122 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198474.3 +1 validated p.R6* 0.000 234 0% 231 34.6% 5 0% - - - NULL OLFML1 283298 genome.wustl.edu 37 11 7509417 7509417 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198474.3 +1 validated p.F63L 1.000 80 0% 106 31.1% 3 0% unknown(0) - - NULL PPFIBP2 8495 genome.wustl.edu 37 11 7631561 7631561 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003621.2 +1 validated p.D176N 0.999 329 0% 609 34.3% 7 14.2% benign(0.037) deleterious(0.01) neutral(0.408) NULL OVCH2 341277 genome.wustl.edu 37 11 7716874 7716874 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198185.2 -1 validated p.F403 0.982 172 0% 198 26.8% 0 - - - - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain OVCH2 341277 genome.wustl.edu 37 11 7718062 7718062 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198185.2 -1 validated p.S364Y 0.830 186 0% 246 31.3% 0 - possibly_damaging(0.691) deleterious(0.01) deleterious(0.653) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain OR5P2 120065 genome.wustl.edu 37 11 7818426 7818426 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153444.1 -1 provisional p.D22Y 0.001 79 0% 73 31.5% 0 - probably_damaging(0.981) deleterious(0.03) deleterious(0.790) superfamily_SSF81321 OR10A6 390093 genome.wustl.edu 37 11 7949338 7949338 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004461.1 -1 provisional p.S291I 0.533 223 0% 234 35.5% 0 - possibly_damaging(0.691) deleterious(0) deleterious(0.692) superfamily_SSF81321 OR10A6 390093 genome.wustl.edu 37 11 7949397 7949397 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004461.1 -1 provisional p.K271N 0.746 245 0.4% 272 28.3% 0 - probably_damaging(0.999) tolerated(0.22) deleterious(0.532) HMMPfam_7tm_1,superfamily_SSF81321 OR10A3 26496 genome.wustl.edu 37 11 7960881 7960881 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001003745.1 -1 provisional p.L63I 0.998 144 0% 207 24.6% 0 - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like NLRP10 338322 genome.wustl.edu 37 11 7981377 7981377 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_176821.3 -1 reviewed p.K594N 0.001 208 0% 282 35.5% 0 - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) NULL STK33 65975 genome.wustl.edu 37 11 8414133 8414133 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030906.2 -1 validated p.V490A 0.000 303 0% 426 27.7% 6 50% benign(0.067) tolerated(0.47) neutral(0.015) NULL STK33 65975 genome.wustl.edu 37 11 8435232 8435232 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030906.2 -1 validated p.K385T 0.001 284 0% 299 34.8% 5 60% benign(0) tolerated(1) - superfamily_Protein kinase-like (PK-like) STK33 65975 genome.wustl.edu 37 11 8462292 8462292 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030906.2 -1 validated p.V294I 1.000 93 0% 80 27.5% 4 50% possibly_damaging(0.553) tolerated(0.16) neutral(0.248) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase TRIM66 9866 genome.wustl.edu 37 11 8639495 8639495 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014818.1 -1 validated p.V1216A 1.000 188 0% 306 29.4% 2 0% possibly_damaging(0.942) deleterious(0) deleterious(0.832) NULL NRIP3 56675 genome.wustl.edu 37 11 9005437 9005437 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020645.2 -1 validated p.S232Y 0.845 278 0% 456 34.2% 1 100% possibly_damaging(0.528) deleterious(0) deleterious(0.623) NULL NRIP3 56675 genome.wustl.edu 37 11 9005463 9005463 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020645.2 -1 validated p.E223D 1.000 307 0% 526 35.2% 1 0% benign(0.137) tolerated(0.38) neutral(0.029) NULL NRIP3 56675 genome.wustl.edu 37 11 9005629 9005629 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020645.2 -1 validated p.R202Q 1.000 188 0% 356 38.5% 1 100% benign(0.036) deleterious(0.04) neutral(0.351) superfamily_Pept_Aspartic,HMMPfam_Asp_protease NRIP3 56675 genome.wustl.edu 37 11 9007398 9007398 + Splice_Site SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020645.2 -1 validated e4-1 1.000 125 0% 208 29.8% 0 - - - - - SCUBE2 57758 genome.wustl.edu 37 11 9049077 9049077 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020974.2 -1 validated p.F816L 1.000 244 0% 331 34.1% 3 0% possibly_damaging(0.829) deleterious(0) deleterious(0.759) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain SCUBE2 57758 genome.wustl.edu 37 11 9069079 9069079 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020974.2 -1 validated p.R580Q 0.997 108 0% 122 27.9% 1 0% probably_damaging(0.96) deleterious(0) deleterious(0.848) NULL TMEM41B 440026 genome.wustl.edu 37 11 9316856 9316856 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015012.2 -1 validated p.K106 1.000 123 0% 246 28.9% 21 52.3% - - - NULL SWAP70 23075 genome.wustl.edu 37 11 9754216 9754216 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015055.2 +1 validated p.A347T 1.000 79 0% 114 41.2% 6 33.3% probably_damaging(0.999) tolerated(0.28) deleterious(0.522) NULL SBF2 81846 genome.wustl.edu 37 11 9834095 9834095 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030962.3 -1 reviewed p.S1380Y 1.000 114 0% 164 33.5% 2 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_(Phosphotyrosine protein) phosphatases II SBF2 81846 genome.wustl.edu 37 11 9874255 9874255 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030962.3 -1 reviewed p.R860* 1.000 157 0% 191 26.7% 3 0% - - - NULL AMPD3 272 genome.wustl.edu 37 11 10526104 10526104 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000480.2 +1 reviewed p.L684 0.874 121 0.8% 189 31.2% 1 0% - - - HMMPfam_A_deaminase,superfamily_SSF51556 RNF141 50862 genome.wustl.edu 37 11 10555654 10555654 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016422.3 -1 reviewed p.E18* 1.000 251 0% 418 32.5% 4 0% - - - NULL MRVI1 10335 genome.wustl.edu 37 11 10603531 10603531 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001098579.1 -1 reviewed p.G739V 1.000 198 0% 231 23.8% 2 0% probably_damaging(0.995) deleterious(0.03) deleterious(0.822) HMMPfam_MRVI1 EIF4G2 1982 genome.wustl.edu 37 11 10828867 10828867 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000429377 -1 known p.K65 1.000 72 0% 116 32.8% 120 45% - - - NULL ZBED5 58486 genome.wustl.edu 37 11 10876045 10876045 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001143667.1 -1 reviewed p.R150* 1.000 224 0% 323 33.1% 19 57.8% - - - NULL USP47 55031 genome.wustl.edu 37 11 11964232 11964232 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017944.3 +1 validated p.I820 0.950 89 0% 89 41.6% 15 46.6% - - - NULL MICAL2 9645 genome.wustl.edu 37 11 12281375 12281375 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014632.2 +1 provisional p.R1089W 0.002 61 0% 103 27.2% 11 9% possibly_damaging(0.862) deleterious(0.04) deleterious(0.682) NULL MICALCL 84953 genome.wustl.edu 37 11 12315302 12315302 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032867.2 +1 validated p.E108D 0.004 77 0% 135 35.6% 0 - benign(0.015) deleterious(0) neutral(0.445) NULL MICALCL 84953 genome.wustl.edu 37 11 12315811 12315811 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032867.2 +1 validated p.R278Q 0.418 36 0% 39 43.6% 0 - possibly_damaging(0.938) deleterious(0.04) deleterious(0.732) NULL MICALCL 84953 genome.wustl.edu 37 11 12376376 12376376 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032867.2 +1 validated p.Q625H 1.000 175 0% 277 34.3% 0 - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) NULL MICALCL 84953 genome.wustl.edu 37 11 12379958 12379958 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032867.2 +1 validated p.E674* 0.998 102 0% 209 36.8% 1 0% - - - NULL PARVA 55742 genome.wustl.edu 37 11 12525924 12525924 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018222.3 +1 provisional p.R202H 1.000 214 0% 279 38.7% 44 18.1% benign(0.228) deleterious(0.01) neutral(0.428) HMMPfam_CH,superfamily_Calponin-homology domain CH-domain ARNTL 406 genome.wustl.edu 37 11 13388320 13388320 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001030272.1 +1 reviewed p.D221Y 1.000 107 0% 133 28.6% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PAS ARNTL 406 genome.wustl.edu 37 11 13400046 13400046 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000396441 +1 known p.K103T 0.000 90 0% 104 29.8% 0 - - - - NULL BTBD10 84280 genome.wustl.edu 37 11 13410443 13410443 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032320.5 -1 validated p.L455I 1.000 109 0% 113 26.5% 25 44% probably_damaging(0.967) tolerated(0.09) deleterious(0.706) NULL FAR1 84188 genome.wustl.edu 37 11 13716436 13716436 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032228.5 +1 validated p.V42F 1.000 190 0% 290 28.3% 10 70% possibly_damaging(0.789) deleterious(0.01) deleterious(0.702) HMMPfam_NAD_binding_4,superfamily_NAD(P)-bd SPON1 10418 genome.wustl.edu 37 11 14157106 14157106 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000310358 +1 known p.R272* 1.000 79 0% 192 34.9% 7 0% - - - HMMPfam_Spond_N SPON1 10418 genome.wustl.edu 37 11 14278226 14278226 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000310358 +1 known p.E432* 1.000 198 0% 373 21.4% 12 0% - - - NULL COPB1 1315 genome.wustl.edu 37 11 14502640 14502640 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001144061.1 -1 reviewed p.L321M 1.000 125 0% 143 35.7% 40 65% benign(0.093) tolerated(0.21) neutral(0.051) HMMPfam_Adaptin_N,superfamily_ARM-type_fold PDE3B 5140 genome.wustl.edu 37 11 14808123 14808123 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000922.3 +1 validated p.F390 1.000 238 0% 142 28.9% 0 - - - - NULL PDE3B 5140 genome.wustl.edu 37 11 14889224 14889224 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000922.3 +1 validated p.N1020T 0.974 283 0% 446 34.3% 1 0% benign(0) tolerated(0.05) neutral(0.345) HMMPfam_PDEase_I,superfamily_HD-domain/PDEase-like CYP2R1 120227 genome.wustl.edu 37 11 14899829 14899829 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024514.4 -1 reviewed p.L449I 1.000 186 0% 117 35.9% 29 51.7% probably_damaging(0.976) tolerated(0.12) deleterious(0.678) HMMPfam_p450,superfamily_Cytochrome_P450,PatternScan_CYTOCHROME_P450 INSC 387755 genome.wustl.edu 37 11 15262015 15262015 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001031853.3 +1 provisional p.L519 1.000 167 0% 132 40.9% 0 - - - - HMMSmart_SM00185,superfamily_ARM repeat SOX6 55553 genome.wustl.edu 37 11 16010674 16010674 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033326.3 -1 reviewed p.R592H 1.000 169 0% 152 35.5% 0 - probably_damaging(0.961) deleterious(0) deleterious(0.849) superfamily_HMG-box C11orf58 10944 genome.wustl.edu 37 11 16774348 16774348 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014267.5 +1 validated p.K75N 1.000 154 0% 272 34.6% 195 47.6% probably_damaging(0.991) tolerated(0.1) deleterious(0.730) NULL PIK3C2A 5286 genome.wustl.edu 37 11 17132027 17132027 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002645.2 -1 validated p.D1166Y 1.000 222 0% 412 28.4% 7 42.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,superfamily_Protein kinase-like (PK-like) PIK3C2A 5286 genome.wustl.edu 37 11 17172170 17172170 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002645.2 -1 validated p.R401H 0.000 294 0% 431 24.6% 3 33.3% benign(0.005) tolerated(0.21) neutral(0.044) superfamily_Ubiquitin-like PIK3C2A 5286 genome.wustl.edu 37 11 17191191 17191191 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002645.2 -1 validated p.Q33P 1.000 207 0% 433 30.9% 2 50% possibly_damaging(0.951) deleterious(0.01) deleterious(0.800) NULL KCNC1 3746 genome.wustl.edu 37 11 17793324 17793324 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001112741.1 +1 reviewed p.R228H 0.988 253 0% 386 36.3% 0 - benign(0.222) tolerated(0.27) neutral(0.056) superfamily_Voltage-gated potassium channels KCNC1 3746 genome.wustl.edu 37 11 17793473 17793473 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001112741.1 +1 reviewed p.L278I 0.927 212 0% 306 35.9% 0 - probably_damaging(0.99) tolerated(0.09) deleterious(0.738) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels KCNC1 3746 genome.wustl.edu 37 11 17801027 17801027 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001112741.1 +1 reviewed p.A510V 1.000 74 0% 90 22.2% 0 - benign(0.001) deleterious(0.02) neutral(0.383) NULL TPH1 7166 genome.wustl.edu 37 11 18042711 18042711 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004179.2 -1 reviewed p.E388* 1.000 201 0% 232 31% 0 - - - - HMMPfam_Biopterin_H,superfamily_Aromatic aminoacid monoxygenases catalytic and oligomerization domains MRGPRX4 117196 genome.wustl.edu 37 11 18194805 18194805 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_054032.3 +1 validated p.M1T 0.008 96 0% 170 30.6% 0 - benign(0.296) deleterious(0) deleterious(0.536) NULL MRGPRX4 117196 genome.wustl.edu 37 11 18194853 18194853 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_054032.3 +1 validated p.G17V 0.000 120 0% 240 28.7% 0 - benign(0.003) tolerated(0.37) neutral(0.019) NULL ENSG00000189332 0 genome.wustl.edu 37 11 18231290 18231290 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000340135 +1 known p.E26K 0.009 51 0% 74 23% 0 - benign(0.017) tolerated(0.33) neutral(0.025) NULL ENSG00000189332 0 genome.wustl.edu 37 11 18231482 18231482 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000340135 +1 known p.R90W 0.999 69 0% 141 31.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Mitochondrial carrier HPS5 11234 genome.wustl.edu 37 11 18318408 18318408 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_181507.1 -1 reviewed p.E483* 1.000 73 0% 130 36.9% 2 50% - - - NULL LDHAL6A 160287 genome.wustl.edu 37 11 18487239 18487239 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001144071.1 +1 validated p.Q100H 0.858 168 0% 303 30.7% 2 100% probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_Ldh_1_N,superfamily_NAD(P)-bd TSG101 7251 genome.wustl.edu 37 11 18541149 18541149 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006292.2 -1 reviewed p.Y15C 1.000 122 0% 188 39.9% 27 48.1% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_UBC-like UEVLD 55293 genome.wustl.edu 37 11 18568443 18568443 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001040697.1 -1 validated p.L290 0.518 125 0% 243 31.7% 6 33.3% - - - HMMPfam_Ldh_1_N,superfamily_NAD(P)-binding Rossmann-fold domains SPTY2D1 144108 genome.wustl.edu 37 11 18636920 18636920 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_194285.2 -1 validated p.R301S 0.009 73 0% 156 35.3% 11 72.7% benign(0.325) tolerated(0.58) neutral(0.107) NULL IGSF22 283284 genome.wustl.edu 37 11 18740216 18740216 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173588.3 -1 validated p.V252 0.023 191 0.5% 333 34.8% 0 - - - - HMMSmart_IG,HMMPfam_I-set,superfamily_SSF48726 PTPN5 84867 genome.wustl.edu 37 11 18763930 18763930 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006906.1 -1 validated p.E202K 0.979 107 0% 83 38.6% 0 - possibly_damaging(0.8) deleterious(0.05) deleterious(0.646) NULL MRGPRX1 259249 genome.wustl.edu 37 11 18956062 18956062 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_147199.3 -1 provisional p.I90 0.000 159 0% 303 18.8% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 MRGPRX1 259249 genome.wustl.edu 37 11 18956211 18956211 + Splice_Site SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000433222 -1 known e2-1 0.179 216 0% 330 28.2% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) - MRGPRX2 117194 genome.wustl.edu 37 11 19077883 19077883 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_054030.2 -1 provisional p.L23I 0.000 52 0% 68 27.9% 0 - benign(0) tolerated(0.4) neutral(0.016) superfamily_SSF81321 E2F8 79733 genome.wustl.edu 37 11 19259673 19259673 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024680.2 -1 validated p.L8I 1.000 119 0% 141 28.4% 0 - benign(0.288) tolerated(1) neutral(0.088) NULL NAV2 89797 genome.wustl.edu 37 11 19914112 19914112 + Silent SNP A A G rs140502141 TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182964.5 +1 validated p.P301 0.631 134 0% 174 29.3% 1 0% - - - NULL NAV2 89797 genome.wustl.edu 37 11 19955393 19955393 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182964.5 +1 validated p.K535Q 1.000 77 0% 157 41.4% 0 - probably_damaging(0.983) deleterious(0) deleterious(0.873) NULL NAV2 89797 genome.wustl.edu 37 11 20066886 20066886 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182964.5 +1 validated p.R1191Q 1.000 84 0% 112 33.9% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL NAV2 89797 genome.wustl.edu 37 11 20119198 20119198 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182964.5 +1 validated p.E2033* 1.000 121 0% 168 29.8% 8 25% - - - NULL HTATIP2 10553 genome.wustl.edu 37 11 20404712 20404712 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001098520.1 +1 validated p.I264 0.468 111 0% 169 32.5% 107 42% - - - NULL SLC6A5 9152 genome.wustl.edu 37 11 20636242 20636242 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004211.3 +1 reviewed p.D335Y 1.000 163 0% 237 34.6% 0 - benign(0.002) deleterious(0.03) neutral(0.364) HMMPfam_SNF SLC6A5 9152 genome.wustl.edu 37 11 20639313 20639313 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004211.3 +1 reviewed p.K381N 1.000 281 0% 357 22.4% 0 - benign(0.001) tolerated(0.22) neutral(0.042) HMMPfam_SNF SLC6A5 9152 genome.wustl.edu 37 11 20648305 20648305 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004211.3 +1 reviewed p.I438V 1.000 155 0% 167 33.5% 0 - benign(0.006) tolerated(0.56) neutral(0.006) HMMPfam_SNF NELL1 4745 genome.wustl.edu 37 11 20949977 20949977 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006157.3 +1 reviewed p.D317Y 1.000 270 0% 293 31.7% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1,HMMSmart_SM00215 NELL1 4745 genome.wustl.edu 37 11 21592479 21592479 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006157.3 +1 reviewed p.R717Q 0.998 209 0% 113 36.3% 0 - benign(0.419) tolerated(0.42) neutral(0.150) HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1,HMMSmart_SM00215 ANO5 203859 genome.wustl.edu 37 11 22257748 22257748 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_213599.2 +1 reviewed p.D230Y 1.000 351 0% 292 33.2% 0 - possibly_damaging(0.921) deleterious(0.01) deleterious(0.776) NULL ANO5 203859 genome.wustl.edu 37 11 22257756 22257756 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_213599.2 +1 reviewed p.K232N 1.000 355 0% 272 32% 0 - probably_damaging(0.986) tolerated(0.45) neutral(0.447) NULL ANO5 203859 genome.wustl.edu 37 11 22294372 22294372 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_213599.2 +1 reviewed p.P691H 1.000 358 0% 419 32.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF590 SVIP 258010 genome.wustl.edu 37 11 22848789 22848789 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_148893.1 -1 provisional p.I61 0.028 86 0% 68 19.1% 54 42.5% - - - NULL ANO3 63982 genome.wustl.edu 37 11 26529757 26529757 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031418.2 +1 validated p.R180I 1.000 158 0% 171 34.5% 0 - possibly_damaging(0.887) deleterious(0) deleterious(0.791) NULL ANO3 63982 genome.wustl.edu 37 11 26621235 26621235 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031418.2 +1 validated p.F604V 1.000 417 0.2% 459 32.5% 0 - probably_damaging(0.986) tolerated(0.07) deleterious(0.754) NULL ANO3 63982 genome.wustl.edu 37 11 26681908 26681908 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031418.2 +1 validated p.E955* 1.000 127 0% 108 50% 0 - - - - NULL SLC5A12 159963 genome.wustl.edu 37 11 26725356 26725356 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178498.3 -1 validated p.R222* 1.000 222 0% 172 33.7% 4 0% - - - NULL CCDC34 91057 genome.wustl.edu 37 11 27360432 27360432 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030771.1 -1 validated p.S353Y 0.054 240 0.4% 331 31.7% 24 54.1% possibly_damaging(0.745) deleterious(0.04) deleterious(0.623) NULL CCDC34 91057 genome.wustl.edu 37 11 27371811 27371811 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_080654.2 -1 validated p.S225* 0.000 378 0% 424 23.1% 1 0% - - - NULL KIF18A 81930 genome.wustl.edu 37 11 28058076 28058076 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031217.3 -1 validated p.S695Y 1.000 159 0% 96 44.8% 8 50% probably_damaging(0.989) deleterious(0) deleterious(0.884) NULL MPPED2 744 genome.wustl.edu 37 11 30557586 30557586 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001584.2 -1 reviewed p.E89K 1.000 144 0% 131 35.9% 4 75% possibly_damaging(0.952) tolerated(0.87) neutral(0.396) HMMPfam_Metallophos,superfamily_Metallo-dependent phosphatases ENSG00000226746 0 genome.wustl.edu 37 11 30974051 30974051 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000399333 -1 known p.P505S 1.000 403 0% 409 29.8% 0 - - - - NULL ENSG00000226746 0 genome.wustl.edu 37 11 31115678 31115678 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000399333 -1 known p.F298L 0.011 121 0% 117 35.9% 0 - - - - NULL EIF3M 10480 genome.wustl.edu 37 11 32622377 32622377 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006360.3 +1 provisional p.D314 1.000 174 0% 218 32.1% 376 38.8% - - - "HMMPfam_PCI,HMMSmart_SM00088,superfamily_""Winged helix"" DNA-binding domain" CCDC73 493860 genome.wustl.edu 37 11 32675584 32675584 + Splice_Site SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001008391.2 -1 validated e10-1 1.000 172 0% 144 33.3% 0 - - - - - CCDC73 493860 genome.wustl.edu 37 11 32697145 32697145 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001008391.2 -1 validated p.K204T 1.000 114 0% 92 31.5% 0 - possibly_damaging(0.527) tolerated(0.13) neutral(0.430) NULL CCDC73 493860 genome.wustl.edu 37 11 32697466 32697466 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001008391.2 -1 validated p.L177 0.997 373 0% 420 37.9% 0 - - - - NULL CCDC73 493860 genome.wustl.edu 37 11 32720808 32720808 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001008391.2 -1 validated p.K127Q 1.000 464 0% 617 24.8% 0 - probably_damaging(1) tolerated(0.3) deleterious(0.528) NULL QSER1 79832 genome.wustl.edu 37 11 32955694 32955694 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001076786.1 +1 provisional p.F835V 1.000 67 0% 97 41.2% 3 33.3% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL QSER1 79832 genome.wustl.edu 37 11 32956714 32956714 + Silent SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001076786.1 +1 provisional p.R1175 1.000 129 0% 102 25.5% 4 100% - - - NULL CSTF3 1479 genome.wustl.edu 37 11 33123747 33123747 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001326.2 -1 reviewed p.D268N 1.000 305 0% 318 25.8% 9 33.3% probably_damaging(0.978) deleterious(0) deleterious(0.865) superfamily_TPR-like C11orf41 25758 genome.wustl.edu 37 11 33566801 33566801 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012194.1 +1 validated p.P797T 0.789 99 0% 139 43.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CD59 966 genome.wustl.edu 37 11 33731685 33731685 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000611.5 -1 reviewed p.S125N 0.000 135 0% 156 29.5% 300 30.6% benign(0.189) tolerated(0.25) neutral(0.054) NULL CD59 966 genome.wustl.edu 37 11 33731839 33731839 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000611.5 -1 reviewed p.D74N 0.000 171 0% 244 30.7% 288 27.4% benign(0.002) tolerated(0.35) neutral(0.021) HMMPfam_UPAR_LY6,HMMSmart_SM00134,superfamily_Snake toxin-like FBXO3 26273 genome.wustl.edu 37 11 33777332 33777332 + Silent SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012175.3 -1 reviewed p.V221 1.000 129 0% 181 29.8% 19 52.6% - - - HMMPfam_SMI1_KNR4 FBXO3 26273 genome.wustl.edu 37 11 33790506 33790506 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012175.3 -1 reviewed p.Y83 0.994 255 0% 360 33.3% 10 30% - - - superfamily_F-box domain NAT10 55226 genome.wustl.edu 37 11 34154639 34154639 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024662.2 +1 validated p.P562S 1.000 267 0% 567 31.6% 23 34.7% possibly_damaging(0.893) deleterious(0.04) deleterious(0.701) NULL ABTB2 25841 genome.wustl.edu 37 11 34184250 34184250 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145804.1 -1 provisional p.S511 0.208 30 0% 35 42.9% 3 33.3% - - - superfamily_ANK ABTB2 25841 genome.wustl.edu 37 11 34378308 34378308 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145804.1 -1 provisional p.A89T 1.000 33 0% 49 40.8% 6 16.6% possibly_damaging(0.804) deleterious(0.01) deleterious(0.708) superfamily_Histone-fold ELF5 2001 genome.wustl.edu 37 11 34502381 34502381 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198381.1 -1 reviewed p.K213N 1.000 372 0% 446 37% 0 - possibly_damaging(0.913) tolerated(0.07) deleterious(0.683) "HMMPfam_Ets,HMMSmart_SM00413,superfamily_""Winged helix"" DNA-binding domain" PDHX 8050 genome.wustl.edu 37 11 34991821 34991821 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003477.2 +1 reviewed p.D318Y 0.998 178 0% 192 29.2% 16 50% benign(0.072) tolerated(0.09) neutral(0.301) HMMPfam_2-oxoacid_dh,superfamily_SSF52777 PDHX 8050 genome.wustl.edu 37 11 35006231 35006231 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003477.2 +1 reviewed p.D380Y 1.000 175 0% 186 28.5% 26 30.7% possibly_damaging(0.822) deleterious(0) deleterious(0.756) HMMPfam_2-oxoacid_dh,superfamily_SSF52777 CD44 960 genome.wustl.edu 37 11 35198121 35198121 + Splice_Site SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000610.3 +1 reviewed e2-1 0.977 61 0% 62 25.8% 0 - - - - - PAMR1 25891 genome.wustl.edu 37 11 35454063 35454063 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015430.2 -1 validated p.I685 0.971 69 0% 101 36.6% 28 0% - - - HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys LDLRAD3 143458 genome.wustl.edu 37 11 36057774 36057774 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_174902.2 +1 provisional p.F56 0.994 126 0% 159 34% 8 37.5% - - - HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,superfamily_LDL_rcpt_classA_cys-rich RAG1 5896 genome.wustl.edu 37 11 36597696 36597696 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000448.2 +1 reviewed p.E948* 1.000 156 0% 234 34.2% 0 - - - - NULL RAG2 5897 genome.wustl.edu 37 11 36614907 36614907 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000536.3 -1 reviewed p.F271C 1.000 126 0% 153 35.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RAG2 LRRC4C 57689 genome.wustl.edu 37 11 40136642 40136642 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020929.1 -1 validated p.V401M 1.000 127 0% 169 34.9% 0 - benign(0.054) tolerated(0.1) neutral(0.290) HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin LRRC4C 57689 genome.wustl.edu 37 11 40137423 40137423 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020929.1 -1 validated p.P140 0.001 101 1% 128 33.6% 2 100% - - - HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like API5 8539 genome.wustl.edu 37 11 43342374 43342374 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142930.1 +1 validated p.R79* 1.000 196 0% 298 35.6% 12 16.6% - - - HMMPfam_API5,superfamily_ARM-type_fold ENSG00000246250 0 genome.wustl.edu 37 11 43852284 43852284 + RNA SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000499066 -1 known NULL 0.985 14 0% 30 40% 0 - - - - - ACCSL 390110 genome.wustl.edu 37 11 44070018 44070018 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001031854.2 +1 validated p.V144 0.000 77 0% 90 23.3% 0 - - - - superfamily_PLP-dependent transferases EXT2 2132 genome.wustl.edu 37 11 44130751 44130751 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000401.3 +1 reviewed p.R195* 1.000 138 0% 152 31.6% 34 2.9% - - - HMMPfam_Exostosin GYLTL1B 120071 genome.wustl.edu 37 11 45948049 45948049 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152312.3 +1 validated p.F355L 1.000 144 0% 281 37.4% 95 53.6% benign(0.001) tolerated(0.26) neutral(0.034) superfamily_Nucleotide-diphospho-sugar transferases PHF21A 51317 genome.wustl.edu 37 11 45987025 45987025 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001101802.1 -1 validated p.Q278H 1.000 152 0% 284 37.3% 21 23.8% probably_damaging(0.97) deleterious(0.03) deleterious(0.777) NULL ARHGAP1 392 genome.wustl.edu 37 11 46700685 46700685 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004308.2 -1 provisional p.I408V 1.000 148 0% 360 30% 77 36.3% benign(0.001) tolerated(1) - HMMPfam_RhoGAP,HMMSmart_RhoGAP,superfamily_Rho_GAP ARHGAP1 392 genome.wustl.edu 37 11 46702650 46702650 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004308.2 -1 provisional p.F182 1.000 175 0% 299 31.1% 30 26.6% - - - HMMSmart_SEC14,superfamily_CRAL_TRIO_C CKAP5 9793 genome.wustl.edu 37 11 46771888 46771888 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001008938.1 -1 validated p.V1880 0.999 177 0% 365 31.2% 73 32.8% - - - NULL CKAP5 9793 genome.wustl.edu 37 11 46774960 46774960 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001008938.1 -1 validated p.S1653A 0.992 121 0% 220 31.4% 60 48.3% benign(0.003) tolerated(0.74) neutral(0.002) NULL CKAP5 9793 genome.wustl.edu 37 11 46776498 46776498 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001008938.1 -1 validated p.E1603D 1.000 185 0.5% 405 30.9% 70 45.7% benign(0.001) tolerated(0.48) neutral(0.011) NULL LRP4 4038 genome.wustl.edu 37 11 46911963 46911963 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002334.3 -1 reviewed p.D594N 1.000 48 0% 64 34.4% 9 11.1% benign(0.043) tolerated(0.23) neutral(0.044) HMMPfam_Ldl_recept_b,HMMSmart_SM00135,superfamily_YWTD domain MADD 8567 genome.wustl.edu 37 11 47331089 47331089 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003682.3 +1 reviewed p.R1362C 1.000 127 0% 301 38.5% 22 22.7% probably_damaging(1) deleterious(0) deleterious(0.945) NULL MADD 8567 genome.wustl.edu 37 11 47345343 47345343 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003682.3 +1 reviewed p.R1500I 1.000 112 0% 277 37.9% 33 45.4% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SLC39A13 91252 genome.wustl.edu 37 11 47436905 47436905 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001128225.2 +1 reviewed p.F369 0.000 131 0% 244 33.2% 55 23.6% - - - NULL RAPSN 5913 genome.wustl.edu 37 11 47464266 47464266 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005055.3 -1 reviewed p.H211R 1.000 59 0% 83 39.8% 1 0% possibly_damaging(0.733) tolerated(0.59) neutral(0.273) HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like LOC100289572 100289572 genome.wustl.edu 37 11 47470718 47470718 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002343082.1 +1 model p.A275T 1.000 7 0.000 19 0.526 1 100% - - - NULL CELF1 10658 genome.wustl.edu 37 11 47494692 47494692 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001025596.2 -1 reviewed p.V427 0.998 77 0% 182 38.5% 29 24.1% - - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD AGBL2 79841 genome.wustl.edu 37 11 47707579 47707579 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024783.2 -1 validated p.L552M 0.991 145 0.7% 250 30.4% 0 - benign(0.429) tolerated(0.1) neutral(0.426) HMMPfam_Peptidase_M14,superfamily_Zn-dependent exopeptidases FNBP4 23360 genome.wustl.edu 37 11 47765580 47765580 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015308.2 -1 validated p.R461* 1.000 175 0% 369 11.7% 20 15% - - - NULL NUP160 23279 genome.wustl.edu 37 11 47833884 47833884 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015231.1 -1 validated p.E684* 0.992 333 0% 658 30.5% 5 0% - - - NULL NUP160 23279 genome.wustl.edu 37 11 47861855 47861855 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000458312 -1 known p.C166 0.000 62 0% 127 30.7% 0 - - - - NULL PTPRJ 5795 genome.wustl.edu 37 11 48177584 48177584 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002843.3 +1 reviewed p.P1117 0.996 128 0% 230 27.4% 7 28.5% - - - HMMPfam_Y_phosphatase,HMMSmart_PTPc,superfamily_SSF52799 OR4X2 119764 genome.wustl.edu 37 11 48267317 48267317 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004727.1 +1 provisional p.S221I 0.000 177 0% 244 41% 0 - possibly_damaging(0.882) deleterious(0.03) deleterious(0.709) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR4C45 403257 genome.wustl.edu 37 11 48373937 48373937 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000415304 -1 known p.F21L 0.605 365 0% 552 15.4% 0 - - - - superfamily_Family A G protein-coupled receptor-like LOC283116 283116 genome.wustl.edu 37 11 49053375 49053375 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_208043.4 +1 model p.S75Y 0.024 175 0% 225 32.4% 0 - possibly_damaging(0.839) tolerated(0.12) deleterious(0.581) superfamily_SSF57850 LOC283116 283116 genome.wustl.edu 37 11 49056656 49056656 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_208043.4 +1 model p.D250Y 0.026 199 0% 198 24.2% 0 - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) NULL LOC283116 283116 genome.wustl.edu 37 11 49059070 49059070 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_208043.4 +1 model p.I300 0.000 97 0% 117 36.8% 0 - - - - NULL LOC646754 646754 genome.wustl.edu 37 11 49078870 49078870 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_929704.3 -1 model p.L190F 0.005 194 0% 247 27.5% 0 - probably_damaging(0.999) tolerated(0.05) deleterious(0.836) NULL FOLH1 2346 genome.wustl.edu 37 11 49192803 49192803 + Missense_Mutation SNP A A T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004476.1 -1 reviewed p.F418I 1.000 382 0% 370 23% 4 25% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Peptidase_M28,superfamily_Zn-dependent exopeptidases OR4C13 283092 genome.wustl.edu 37 11 49974330 49974330 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001001955.2 +1 validated p.D119G 1.000 202 0% 192 24% 0 - probably_damaging(0.987) deleterious(0) deleterious(0.881) HMMPfam_7tm_1,superfamily_SSF81321 OR4C12 283093 genome.wustl.edu 37 11 50003294 50003294 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005270.2 -1 validated p.F248L 0.000 161 1.2% 154 32.5% 0 - benign(0.008) deleterious(0) neutral(0.445) HMMPfam_7tm_1,superfamily_SSF81321 OR4C12 283093 genome.wustl.edu 37 11 50003836 50003836 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005270.2 -1 validated p.D68Y 0.992 130 0% 170 28.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 OR4C46 119749 genome.wustl.edu 37 11 51515359 51515359 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004703.1 +1 provisional p.F26 0.459 356 0% 413 28.3% 0 - - - - superfamily_SSF81321 LOC440041 440041 genome.wustl.edu 37 11 55062219 55062219 + RNA SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XR_016142.3 -1 model NULL 0.016 58 0% 18 50% 0 - - - - - ENSG00000166007 0 genome.wustl.edu 37 11 55062991 55062991 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000309470 -1 known p.G217E 0.202 127 0% 48 16.7% 0 - - - - NULL ENSG00000166007 0 genome.wustl.edu 37 11 55065531 55065531 + Missense_Mutation SNP T T A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000309470 -1 known p.N72I 0.065 57 0% 22 27.3% 0 - - - - superfamily_SSF57850 OR4A15 81328 genome.wustl.edu 37 11 55136168 55136168 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005275.1 +1 provisional p.S270Y 0.960 402 0% 302 29.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 ENSG00000181943 0 genome.wustl.edu 37 11 55259401 55259401 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000314657 +1 known p.H228R 0.925 96 0% 60 21.7% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR4C15 81309 genome.wustl.edu 37 11 55322463 55322463 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001001920.1 +1 provisional p.I227 0.001 203 0% 218 18.3% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR4C11 219429 genome.wustl.edu 37 11 55371310 55371310 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004700.1 -1 provisional p.Q180 0.996 71 0% 55 32.7% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR4C11 219429 genome.wustl.edu 37 11 55371648 55371648 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004700.1 -1 provisional p.D68N 0.528 108 0% 99 29.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 OR4P4 81300 genome.wustl.edu 37 11 55405844 55405844 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004124.1 +1 provisional p.S4I 0.000 149 0% 137 28.5% 0 - benign(0.002) tolerated(0.23) neutral(0.042) superfamily_SSF81321 OR4P4 81300 genome.wustl.edu 37 11 55406480 55406480 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004124.1 +1 provisional p.Y216S 0.682 240 0.4% 299 41.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_7tm_1,superfamily_SSF81321 OR4P4 81300 genome.wustl.edu 37 11 55406513 55406513 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004124.1 +1 provisional p.S227Y 0.040 260 0% 345 27.5% 0 - benign(0.003) deleterious(0) neutral(0.445) HMMPfam_7tm_1,superfamily_SSF81321 OR4S2 219431 genome.wustl.edu 37 11 55419140 55419140 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004059.2 +1 validated p.F254C 0.972 213 0% 153 31.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR4S2 219431 genome.wustl.edu 37 11 55419308 55419308 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004059.2 +1 validated p.G310V 0.000 47 0% 27 51.9% 0 - benign(0.009) deleterious(0.04) neutral(0.349) NULL OR4C6 219432 genome.wustl.edu 37 11 55433159 55433159 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004704.1 +1 provisional p.D173Y 0.200 118 0% 141 25.5% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR5D14 219436 genome.wustl.edu 37 11 55563568 55563568 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004735.1 +1 provisional p.F179L 0.373 285 0% 307 27% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 OR5D14 219436 genome.wustl.edu 37 11 55563701 55563701 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004735.1 +1 provisional p.F224V 0.023 242 0% 281 32.4% 0 - benign(0) tolerated(0.67) neutral(0.003) HMMPfam_7tm_1,superfamily_SSF81321 OR5D18 219438 genome.wustl.edu 37 11 55587411 55587411 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001001952.1 +1 provisional p.F102L 0.114 263 0% 435 39.5% 0 - benign(0.085) tolerated(0.46) neutral(0.018) HMMPfam_7tm_1,superfamily_SSF81321 OR5D18 219438 genome.wustl.edu 37 11 55587651 55587651 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001001952.1 +1 provisional p.F182L 0.025 273 0% 346 32.7% 0 - benign(0) tolerated(1) - HMMPfam_7tm_1,superfamily_SSF81321 OR5D16 390144 genome.wustl.edu 37 11 55606553 55606553 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005496.1 +1 provisional p.F109C 0.506 194 0% 204 40.2% 0 - benign(0.111) tolerated(0.08) neutral(0.308) HMMPfam_7tm_1,superfamily_SSF81321 OR5I1 10798 genome.wustl.edu 37 11 55703649 55703649 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006637.1 -1 reviewed p.F76L 0.012 76 0% 37 45.9% 0 - benign(0) deleterious(0) neutral(0.445) HMMPfam_7tm_1,superfamily_SSF81321 OR10AG1 282770 genome.wustl.edu 37 11 55735481 55735481 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005491.1 -1 provisional p.Q153 0.001 168 0% 174 28.2% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR5F1 338674 genome.wustl.edu 37 11 55761422 55761422 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003697.1 -1 provisional p.S227Y 0.000 69 0% 66 28.8% 0 - benign(0.082) deleterious(0) neutral(0.451) HMMPfam_7tm_1,superfamily_SSF81321 OR8H2 390151 genome.wustl.edu 37 11 55873329 55873329 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005200.1 +1 provisional p.D271N 0.002 208 0% 151 23.8% 0 - benign(0.029) tolerated(0.14) neutral(0.251) HMMPfam_7tm_1,superfamily_SSF81321 OR8H3 390152 genome.wustl.edu 37 11 55890562 55890562 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005201.1 +1 provisional p.F238L 0.996 311 0% 307 34.9% 0 - benign(0.012) tolerated(0.08) neutral(0.300) HMMPfam_7tm_1,superfamily_SSF81321 OR5J2 282775 genome.wustl.edu 37 11 55945009 55945009 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005492.1 +1 provisional p.E306* 0.845 118 0% 141 35.5% 0 - - - - superfamily_SSF81321 OR5T3 390154 genome.wustl.edu 37 11 56019826 56019826 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004747.1 +1 provisional p.F51V 0.000 260 0% 216 37% 0 - benign(0.001) tolerated(0.09) neutral(0.296) superfamily_SSF81321 OR5T3 390154 genome.wustl.edu 37 11 56019988 56019988 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004747.1 +1 provisional p.T105A 0.011 225 0% 198 32.8% 0 - possibly_damaging(0.573) deleterious(0) deleterious(0.641) HMMPfam_7tm_1,superfamily_SSF81321 OR5T1 390155 genome.wustl.edu 37 11 56043510 56043510 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004745.1 +1 provisional p.Y132 0.980 283 0% 326 29.4% 0 - - - - HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like OR8K3 219473 genome.wustl.edu 37 11 56086458 56086458 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005202.1 +1 provisional p.L226I 0.020 251 0% 250 30.4% 0 - benign(0.041) tolerated(0.05) neutral(0.348) HMMPfam_7tm_1,superfamily_SSF81321 OR8K1 390157 genome.wustl.edu 37 11 56113810 56113810 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001002907.1 +1 provisional p.S99Y 0.996 182 0% 225 33.3% 0 - probably_damaging(0.987) deleterious(0) deleterious(0.881) HMMPfam_7tm_1,superfamily_SSF81321 OR8K1 390157 genome.wustl.edu 37 11 56113962 56113962 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001002907.1 +1 provisional p.L150M 0.051 289 0% 401 32.7% 0 - probably_damaging(0.999) tolerated(0.12) deleterious(0.751) HMMPfam_7tm_1,superfamily_SSF81321 OR8J1 219477 genome.wustl.edu 37 11 56128034 56128034 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005205.1 +1 provisional p.F104L 0.970 393 0% 429 33.1% 0 - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR8U1 219417 genome.wustl.edu 37 11 56143825 56143825 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005204.1 +1 provisional p.G242 0.021 212 0% 155 26.5% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR8U1 219417 genome.wustl.edu 37 11 56143844 56143844 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005204.1 +1 provisional p.T249A 0.001 189 0% 132 28.8% 0 - benign(0.318) tolerated(0.25) neutral(0.137) HMMPfam_7tm_1,superfamily_SSF81321 OR5M3 219482 genome.wustl.edu 37 11 56237799 56237799 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004742.1 -1 provisional p.F59V 1.000 152 0% 141 33.3% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR5M11 219487 genome.wustl.edu 37 11 56310243 56310243 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005245.1 -1 provisional p.R164H 0.000 55 0% 42 40.5% 1 100% benign(0.012) tolerated(0.19) neutral(0.050) HMMPfam_7tm_1,superfamily_SSF81321 OR5M1 390168 genome.wustl.edu 37 11 56380184 56380184 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004740.1 -1 provisional p.E265D 0.001 245 0% 234 29.5% 0 - benign(0) tolerated(0.18) neutral(0.056) HMMPfam_7tm_1,superfamily_SSF81321 OR5M1 390168 genome.wustl.edu 37 11 56380880 56380880 + Silent SNP C C T rs186105577 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004740.1 -1 provisional p.A33 0.028 302 0% 336 29.8% 0 - - - - superfamily_SSF81321 OR5AP2 338675 genome.wustl.edu 37 11 56409867 56409867 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001002925.1 -1 provisional p.E17* 0.318 149 0% 175 30.3% 0 - - - - superfamily_Family A G protein-coupled receptor-like OR5AR1 219493 genome.wustl.edu 37 11 56431251 56431251 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004730.1 +1 provisional p.V30 0.084 210 0% 256 33.6% 0 - - - - superfamily_SSF81321 OR5AR1 219493 genome.wustl.edu 37 11 56431324 56431324 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004730.1 +1 provisional p.L55F 0.959 282 0.4% 342 29.8% 0 - possibly_damaging(0.743) deleterious(0) deleterious(0.717) HMMPfam_7tm_1,superfamily_SSF81321 OR5AR1 219493 genome.wustl.edu 37 11 56431692 56431692 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004730.1 +1 provisional p.F177L 0.998 312 0% 325 30.5% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_7tm_1,superfamily_SSF81321 OR9G1 390174 genome.wustl.edu 37 11 56467903 56467903 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005213.1 +1 provisional p.L14 0.010 328 0% 364 19% 0 - - - - superfamily_SSF81321 OR9G1 390174 genome.wustl.edu 37 11 56468163 56468163 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005213.1 +1 provisional p.F100L 0.999 362 0% 383 17.5% 0 - probably_damaging(0.998) tolerated(0.72) deleterious(0.476) HMMPfam_7tm_1,superfamily_SSF81321 OR9G1 390174 genome.wustl.edu 37 11 56468719 56468719 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005213.1 +1 provisional p.L286I 0.992 278 0% 365 21.1% 0 - benign(0) deleterious(0) neutral(0.445) HMMPfam_7tm_1,superfamily_SSF81321 OR9G4 283189 genome.wustl.edu 37 11 56510749 56510749 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005284.1 -1 provisional p.R180H 0.010 96 0% 126 30.2% 0 - probably_damaging(0.993) tolerated(0.17) deleterious(0.509) HMMPfam_7tm_1,superfamily_SSF81321 LRRC55 219527 genome.wustl.edu 37 11 56949617 56949617 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005210.2 +1 validated p.L84I 1.000 77 0% 92 26.1% 0 - benign(0.195) tolerated(0.22) neutral(0.060) HMMPfam_LRRNT,HMMSmart_SM00013,superfamily_L domain-like TNKS1BP1 85456 genome.wustl.edu 37 11 57077549 57077549 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033396.2 -1 validated p.R879Q 0.000 170 0% 249 36.5% 41 29.2% benign(0.034) tolerated(0.17) neutral(0.061) NULL TNKS1BP1 85456 genome.wustl.edu 37 11 57087724 57087724 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033396.2 -1 validated p.R186H 1.000 79 0% 73 28.8% 25 36% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL SSRP1 6749 genome.wustl.edu 37 11 57099737 57099737 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003146.2 -1 reviewed p.R297H 1.000 98 0% 193 37.8% 128 35.9% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_SSrecog P2RX3 5024 genome.wustl.edu 37 11 57114597 57114597 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002559.2 +1 reviewed p.S88L 0.999 151 0% 250 28.4% 0 - possibly_damaging(0.909) deleterious(0.01) deleterious(0.768) HMMPfam_P2X_receptor P2RX3 5024 genome.wustl.edu 37 11 57116176 57116176 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002559.2 +1 reviewed p.E187 0.999 93 0% 138 34.8% 0 - - - - HMMPfam_P2X_receptor PRG3 10394 genome.wustl.edu 37 11 57147249 57147249 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006093.3 -1 validated p.E31 0.012 121 0% 168 28.6% 0 - - - - NULL PRG2 5553 genome.wustl.edu 37 11 57157369 57157369 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002728.4 -1 reviewed p.L17I 0.708 137 0% 302 33.8% 1 0% unknown(0) tolerated(0.21) - NULL SLC43A3 29015 genome.wustl.edu 37 11 57184110 57184110 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014096.2 -1 validated p.E235D 0.001 292 0% 465 32.5% 3 0% unknown(0) tolerated(0.18) - superfamily_MFS_gen_substrate_transporter UBE2L6 9246 genome.wustl.edu 37 11 57319963 57319963 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004223.3 -1 reviewed p.V110 0.048 93 0% 142 35.2% 37 5.4% - - - HMMPfam_UQ_con,HMMSmart_SM00212,superfamily_UBC-like ZDHHC5 25921 genome.wustl.edu 37 11 57466162 57466162 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015457.2 +1 validated p.F418 0.504 72 0% 82 32.9% 77 54.5% - - - NULL TMX2 51075 genome.wustl.edu 37 11 57506465 57506465 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015959.2 +1 validated p.N190H 1.000 242 0% 382 31.9% 75 46.6% benign(0.001) deleterious(0.04) neutral(0.349) superfamily_Thioredoxin-like,HMMPfam_Thioredoxin CTNND1 1500 genome.wustl.edu 37 11 57559067 57559067 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001085458.1 +1 validated p.A39 1.000 53 0% 63 28.6% 8 62.5% - - - NULL CTNND1 1500 genome.wustl.edu 37 11 57569309 57569309 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001085458.1 +1 validated p.R354H 1.000 52 0% 92 30.4% 56 42.8% possibly_damaging(0.836) tolerated(0.19) neutral(0.369) NULL CTNND1 1500 genome.wustl.edu 37 11 57569590 57569590 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001085458.1 +1 validated p.K448Q 1.000 96 0% 170 41.8% 62 51.6% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat OR6Q1 219952 genome.wustl.edu 37 11 57798568 57798568 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005186.2 +1 validated p.I48 0.005 280 0% 487 20.1% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR6Q1 219952 genome.wustl.edu 37 11 57798905 57798905 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005186.2 +1 validated p.I161V 0.000 289 0% 410 32.2% 0 - benign(0) tolerated(1) - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR9Q1 219956 genome.wustl.edu 37 11 57947826 57947826 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005212.3 +1 validated p.L304I 0.215 55 0% 67 35.8% 0 - benign(0.344) tolerated(0.75) neutral(0.110) superfamily_SSF81321 OR10Q1 219960 genome.wustl.edu 37 11 57996230 57996230 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004471.2 -1 validated p.L40V 0.000 199 0% 411 33.1% 0 - benign(0.001) tolerated(0.06) neutral(0.323) superfamily_SSF81321 OR10W1 81341 genome.wustl.edu 37 11 58035078 58035078 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_207374.3 -1 validated p.L85F 0.000 83 0% 142 27.5% 0 - benign(0.046) tolerated(0.61) neutral(0.007) HMMPfam_7tm_1,superfamily_SSF81321 ZFP91 80829 genome.wustl.edu 37 11 58377446 58377446 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_053023.3 +1 reviewed p.R172W 0.915 89 0% 145 39.3% 8 75% probably_damaging(1) deleterious(0) deleterious(0.945) NULL GLYATL1 92292 genome.wustl.edu 37 11 58711117 58711117 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_080661.2 +1 provisional p.L42 0.032 111 0% 113 38.1% 0 - - - - HMMPfam_Gly_acyl_tr_N LOC643637 643637 genome.wustl.edu 37 11 58817685 58817685 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002343101.1 +1 model p.T166M 0.000 25 0% 27 40.7% 0 - - - - HMMPfam_Gly_acyl_tr_N,superfamily_Acyl-CoA N-acyltransferases (Nat) FAM111B 374393 genome.wustl.edu 37 11 58892543 58892543 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198947.3 +1 validated p.L325I 0.000 51 0% 68 33.8% 2 50% benign(0.033) tolerated(0.54) neutral(0.009) NULL FAM111A 63901 genome.wustl.edu 37 11 58919492 58919492 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142519.1 +1 validated p.E117D 0.000 126 0% 147 25.2% 9 55.5% probably_damaging(0.996) tolerated(0.07) deleterious(0.780) NULL OSBP 5007 genome.wustl.edu 37 11 59344432 59344432 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002556.2 -1 reviewed p.G709 0.997 96 0% 198 40.9% 41 43.9% - - - HMMPfam_Oxysterol_BP OR10V1 390201 genome.wustl.edu 37 11 59480844 59480844 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005324.1 -1 provisional p.P159S 0.969 66 0% 96 22.9% 0 - possibly_damaging(0.72) tolerated(0.07) deleterious(0.580) HMMPfam_7tm_1,superfamily_SSF81321 GIF 2694 genome.wustl.edu 37 11 59599249 59599249 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005142.2 -1 reviewed p.S365Y 1.000 139 0% 173 32.4% 0 - probably_damaging(1) tolerated(0.07) deleterious(0.819) NULL TCN1 6947 genome.wustl.edu 37 11 59620489 59620489 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001062.3 -1 reviewed p.R421C 0.002 148 0% 195 25.6% 0 - benign(0.043) deleterious(0.04) neutral(0.351) NULL TCN1 6947 genome.wustl.edu 37 11 59630180 59630180 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001062.3 -1 reviewed p.S92L 0.651 167 0% 139 34.5% 0 - probably_damaging(0.998) tolerated(0.09) deleterious(0.771) HMMPfam_Cobalamin_bind,PatternScan_ABC_TRANSPORTER_1 MS4A4A 51338 genome.wustl.edu 37 11 60064693 60064693 + Silent SNP G G T rs192805854 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_148975.1 +1 reviewed p.L75 0.061 160 0% 203 31% 5 0% - - - HMMPfam_CD20 MS4A6E 245802 genome.wustl.edu 37 11 60102487 60102487 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_139249.2 +1 reviewed p.R40H 0.000 353 0% 537 38.2% 0 - benign(0.001) tolerated(0.38) neutral(0.018) HMMPfam_CD20 MS4A6E 245802 genome.wustl.edu 37 11 60107343 60107343 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_139249.2 +1 reviewed p.T120I 0.005 294 0% 390 32.1% 0 - probably_damaging(0.983) tolerated(0.21) deleterious(0.473) HMMPfam_CD20 MS4A14 84689 genome.wustl.edu 37 11 60183171 60183171 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032597.3 +1 validated p.S244P 0.000 104 0% 76 38.2% 0 - possibly_damaging(0.526) tolerated(0.22) neutral(0.220) NULL MS4A14 84689 genome.wustl.edu 37 11 60184032 60184032 + Frame_Shift_Del DEL A A - novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032597.3 +1 validated p.K531fs 0.001 - - - - - - - - - NULL MS4A12 54860 genome.wustl.edu 37 11 60268654 60268654 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017716.2 +1 reviewed p.S138Y 0.351 233 0% 296 33.8% 0 - possibly_damaging(0.929) tolerated(1) neutral(0.376) HMMPfam_CD20 MS4A13 503497 genome.wustl.edu 37 11 60285568 60285568 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001012417.2 +1 validated p.I4 0.733 285 0% 340 35.6% 0 - - - - HMMPfam_CD20 MS4A13 503497 genome.wustl.edu 37 11 60285684 60285684 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001012417.2 +1 validated p.F43C 0.030 253 0% 328 34.5% 0 - possibly_damaging(0.523) tolerated(0.15) neutral(0.417) HMMPfam_CD20 MS4A13 503497 genome.wustl.edu 37 11 60292771 60292771 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001012417.2 +1 validated p.S93Y 0.041 76 0% 91 29.7% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_CD20 MS4A13 503497 genome.wustl.edu 37 11 60296837 60296837 + Splice_Site SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001012417.2 +1 validated e4-1 1.000 301 0.3% 350 36.9% 0 - - - - - MS4A10 341116 genome.wustl.edu 37 11 60558482 60558482 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_206893.3 +1 validated p.V73 0.000 174 0% 268 31.7% 0 - - - - HMMPfam_CD20 CCDC86 79080 genome.wustl.edu 37 11 60609796 60609796 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024098.3 +1 validated p.P67S 0.036 23 0% 25 44% 26 57.6% probably_damaging(0.98) deleterious(0) deleterious(0.869) NULL TMEM109 79073 genome.wustl.edu 37 11 60689269 60689269 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024092.2 +1 validated p.K122Q 1.000 122 0% 203 30.5% 91 37.3% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL PGA5 5222 genome.wustl.edu 37 11 61017450 61017450 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014224.2 +1 validated p.V327 0.000 214 0% 298 34.2% 0 - - - - HMMPfam_Asp,superfamily_Pept_Aspartic DDB1 1642 genome.wustl.edu 37 11 61094320 61094320 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001923.3 -1 validated p.E199* 1.000 158 0% 272 33.1% 26 0% - - - NULL DAK 26007 genome.wustl.edu 37 11 61111618 61111618 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015533.3 +1 reviewed p.S371 0.000 28 0% 57 38.6% 38 52.6% - - - superfamily_Citrobacter dihydroxyacetone kinase extra ATP-binding domain FADS2 9415 genome.wustl.edu 37 11 61624518 61624518 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004265.2 +1 reviewed p.N260 1.000 130 0% 210 35.7% 264 51.5% - - - HMMPfam_FA_desaturase SCGB2A2 4250 genome.wustl.edu 37 11 62038354 62038354 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002411.2 +1 provisional p.G19 0.894 130 0% 203 30% 154 41.5% - - - HMMPfam_Uteroglobin SCGB1A1 7356 genome.wustl.edu 37 11 62189860 62189860 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003357.4 +1 reviewed p.E75* 0.000 119 0.8% 299 24.1% 1 100% - - - HMMPfam_Uteroglobin,HMMSmart_SM00096,superfamily_Uteroglobin-like AHNAK 79026 genome.wustl.edu 37 11 62286994 62286994 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001620.1 -1 validated p.I4965 0.003 74 0% 148 35.1% 36 11.1% - - - NULL AHNAK 79026 genome.wustl.edu 37 11 62291517 62291517 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001620.1 -1 validated p.L3458I 0.076 144 0% 249 32.1% 7 14.2% possibly_damaging(0.882) tolerated(1) neutral(0.344) NULL AHNAK 79026 genome.wustl.edu 37 11 62292230 62292230 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001620.1 -1 validated p.S3220* 0.998 226 0% 383 23.5% 8 0% - - - NULL AHNAK 79026 genome.wustl.edu 37 11 62292693 62292693 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001620.1 -1 validated p.N3066D 0.006 253 0% 383 24% 6 16.6% benign(0.362) tolerated(0.36) neutral(0.135) HMMPfam_CheC AHNAK 79026 genome.wustl.edu 37 11 62294255 62294255 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001620.1 -1 validated p.K2545R 0.142 240 0% 466 33.5% 5 20% possibly_damaging(0.646) tolerated(0.17) neutral(0.285) HMMPfam_CheC AHNAK 79026 genome.wustl.edu 37 11 62298628 62298628 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001620.1 -1 validated p.I1087 0.334 78 0% 108 36.1% 5 60% - - - NULL EEF1G 1937 genome.wustl.edu 37 11 62338515 62338515 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001404.4 -1 reviewed p.T148 0.777 230 0% 444 32.4% 3957 41.6% - - - HMMPfam_GST_C,superfamily_Glutathione S-transferase (GST) C-terminal domain GANAB 23193 genome.wustl.edu 37 11 62397065 62397065 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198335.2 -1 validated p.R632H 1.000 52 0% 76 32.9% 206 43.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glyco_hydro_31 GANAB 23193 genome.wustl.edu 37 11 62406541 62406541 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198335.2 -1 validated p.M98I 1.000 60 0% 128 28.9% 118 32.2% benign(0.004) tolerated(0.84) neutral(0.001) NULL TAF6L 10629 genome.wustl.edu 37 11 62549398 62549398 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006473.2 +1 reviewed p.K188N 1.000 119 0% 274 36.9% 19 31.5% probably_damaging(0.996) deleterious(0.02) deleterious(0.845) NULL SLC22A8 9376 genome.wustl.edu 37 11 62760744 62760744 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004254.3 -1 reviewed p.L532I 1.000 129 0% 152 32.2% 0 - possibly_damaging(0.949) deleterious(0) deleterious(0.838) NULL SLC22A8 9376 genome.wustl.edu 37 11 62760866 62760866 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000311438 -1 known p.L516F 0.004 115 0% 155 33.5% 0 - benign(0.002) tolerated(0.23) neutral(0.042) NULL SLC22A24 283238 genome.wustl.edu 37 11 62863494 62863494 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001136506.1 -1 validated p.R347* 0.000 111 0% 182 36.8% 0 - - - - HMMPfam_MFS_1,superfamily_MFS general substrate transporter SLC22A25 387601 genome.wustl.edu 37 11 62951230 62951230 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_199352.3 -1 validated p.K297T 0.594 456 0% 457 35% 0 - unknown(0) - - HMMPfam_MFS_1,superfamily_MFS general substrate transporter LGALS12 85329 genome.wustl.edu 37 11 63276445 63276445 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142535.1 +1 reviewed p.F141 0.986 60 0% 123 30.9% 0 - - - - HMMPfam_Gal-bind_lectin,HMMSmart_SM00276,superfamily_Concanavalin A-like lectins/glucanases RTN3 10313 genome.wustl.edu 37 11 63487976 63487976 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_201428.1 +1 validated p.D649Y 0.000 46 0% 103 25.2% 3 100% possibly_damaging(0.509) deleterious(0) deleterious(0.615) NULL PYGM 5837 genome.wustl.edu 37 11 64519106 64519106 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005609.2 -1 reviewed p.K597T 0.980 117 0% 161 34.8% 2 0% benign(0) tolerated(0.51) neutral(0.009) HMMPfam_Phosphorylase,superfamily_SSF53756 MAP4K2 5871 genome.wustl.edu 37 11 64570097 64570097 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000444560 -1 known p.N54D 1.000 46 0% 60 31.7% 2 50% unknown(0) tolerated(0.29) - NULL MEN1 4221 genome.wustl.edu 37 11 64572592 64572592 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000244.3 -1 reviewed p.K427E 1.000 66 0% 132 33.3% 25 60% possibly_damaging(0.892) tolerated(0.35) neutral(0.372) HMMPfam_Menin CDC42BPG 55561 genome.wustl.edu 37 11 64595211 64595211 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017525.2 -1 validated p.D1338Y 1.000 53 0% 87 33.3% 25 40% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_CNH,HMMSmart_SM00036 ZNHIT2 741 genome.wustl.edu 37 11 64884276 64884276 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014205.2 -1 validated p.R284* 0.941 15 0% 31 38.7% 49 48.9% - - - NULL EHBP1L1 254102 genome.wustl.edu 37 11 65349715 65349715 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001099409.1 +1 validated p.E524 1.000 36 0% 71 42.3% 3 0% - - - NULL RELA 5970 genome.wustl.edu 37 11 65429196 65429196 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021975.3 -1 validated p.F99L 1.000 49 0% 100 23% 66 22.7% benign(0.3) tolerated(0.08) neutral(0.393) superfamily_p53-like transcription factors,HMMPfam_RHD OVOL1 5017 genome.wustl.edu 37 11 65562187 65562187 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004561.2 +1 reviewed p.R166Q 1.000 34 0% 51 29.4% 10 80% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 SNX32 254122 genome.wustl.edu 37 11 65620387 65620387 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152760.2 +1 validated p.K372N 1.000 107 0% 172 34.3% 1 0% probably_damaging(0.979) deleterious(0) deleterious(0.867) HMMPfam_Vps5 MUS81 80198 genome.wustl.edu 37 11 65628880 65628880 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025128.4 +1 validated p.A109S 0.104 75 0% 108 35.2% 24 37.5% benign(0.001) tolerated(0.66) neutral(0.003) NULL EFEMP2 30008 genome.wustl.edu 37 11 65637603 65637603 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016938.3 -1 reviewed p.R199H 1.000 31 0% 34 41.2% 74 1.3% benign(0.123) tolerated(0.14) neutral(0.260) HMMSmart_EGF_CA,PatternScan_EGF_2,HMMPfam_EGF_CA,superfamily_SSF57196 FIBP 9158 genome.wustl.edu 37 11 65655500 65655500 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198897.1 -1 reviewed p.F63L 1.000 33 0% 56 25% 111 28.8% probably_damaging(0.998) tolerated(0.1) deleterious(0.761) HMMPfam_FIBP CATSPER1 117144 genome.wustl.edu 37 11 65790437 65790437 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_053054.3 -1 reviewed p.E438K 0.000 93 0% 168 32.1% 0 - benign(0.104) tolerated(0.61) neutral(0.012) superfamily_Voltage-gated potassium channels CATSPER1 117144 genome.wustl.edu 37 11 65792876 65792876 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_053054.3 -1 reviewed p.L325 0.001 303 0% 748 29.8% 0 - - - - superfamily_Voltage-gated potassium channels SF3B2 10992 genome.wustl.edu 37 11 65823051 65823051 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006842.2 +1 reviewed p.K182E 1.000 157 0% 363 31.7% 83 22.8% unknown(0) deleterious(0.04) - NULL SF3B2 10992 genome.wustl.edu 37 11 65825812 65825812 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006842.2 +1 reviewed p.R301H 1.000 44 0% 67 29.9% 84 46.4% possibly_damaging(0.945) deleterious(0.03) deleterious(0.754) NULL PACS1 55690 genome.wustl.edu 37 11 66010673 66010673 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018026.2 +1 reviewed p.F938L 1.000 97 0% 104 26% 36 13.8% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_Pacs-1 TMEM151A 256472 genome.wustl.edu 37 11 66061917 66061917 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153266.3 +1 validated p.V67A 0.999 47 0% 56 33.9% 0 - probably_damaging(0.999) tolerated(0.16) deleterious(0.550) NULL SLC29A2 3177 genome.wustl.edu 37 11 66130916 66130916 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001532.2 -1 validated p.A454 0.003 74 0% 157 35% 56 48.2% - - - HMMPfam_Nucleoside_tran NPAS4 266743 genome.wustl.edu 37 11 66189940 66189940 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178864.3 +1 validated p.G116C 1.000 167 0% 261 30.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_PAS,superfamily_SSF55785 NPAS4 266743 genome.wustl.edu 37 11 66192014 66192014 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178864.3 +1 validated p.E551 0.724 86 0% 178 32.6% 0 - - - - NULL CTSF 8722 genome.wustl.edu 37 11 66335464 66335464 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003793.3 -1 reviewed p.K101N 0.090 49 0% 68 36.8% 23 21.7% possibly_damaging(0.45) deleterious(0.02) deleterious(0.530) NULL SPTBN2 6712 genome.wustl.edu 37 11 66468401 66468401 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006946.2 -1 reviewed p.R1057* 0.837 16 0.000 9 0.556 2 50% - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SPTBN2 6712 genome.wustl.edu 37 11 66482700 66482700 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006946.2 -1 reviewed p.R159Q 0.994 113 0% 171 29.2% 5 60% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain C11orf80 79703 genome.wustl.edu 37 11 66581405 66581405 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024650.3 +1 validated p.F370V 0.999 152 0% 307 34.2% 16 37.5% benign(0.429) deleterious(0.01) deleterious(0.545) NULL PC 5091 genome.wustl.edu 37 11 66619979 66619979 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000920.3 -1 reviewed p.D586N 1.000 67 0% 76 35.5% 9 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HMGL-like,superfamily_SSF51569 PC 5091 genome.wustl.edu 37 11 66631257 66631257 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000920.3 -1 reviewed p.V452 0.998 82 0% 110 30.9% 11 45.4% - - - HMMPfam_Biotin_carb_C,superfamily_Rudmnt_hyb_motif KDM2A 22992 genome.wustl.edu 37 11 67012811 67012811 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012308.2 +1 reviewed p.R572Q 0.997 93 0% 159 37.7% 30 50% probably_damaging(0.975) deleterious(0.01) deleterious(0.823) HMMPfam_zf-CXXC RPS6KB2 6199 genome.wustl.edu 37 11 67200130 67200130 + Splice_Site SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003952.2 +1 reviewed e6+2 1.000 204 0% 298 28.5% 1 100% - - - - PTPRCAP 5790 genome.wustl.edu 37 11 67203434 67203434 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005608.2 -1 reviewed p.E131K 0.001 44 0% 42 33.3% 44 0% benign(0) tolerated(0.19) neutral(0.050) NULL ALDH3B2 222 genome.wustl.edu 37 11 67430779 67430779 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000695.3 -1 reviewed p.E355D 1.000 113 0% 191 34% 24 41.6% - - - NULL ENSG00000221553 0 genome.wustl.edu 37 11 67700767 67700767 + RNA SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000408626 +1 novel NULL 0.130 65 0% 112 30.4% 0 - - - - - ORAOV1 220064 genome.wustl.edu 37 11 69482348 69482348 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153451.2 -1 validated p.S118L 0.998 158 0% 305 29.2% 6 16.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF1715 ANO1 55107 genome.wustl.edu 37 11 69951839 69951839 + Splice_Site SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018043.5 +1 validated e5-1 1.000 212 0.5% 276 34.4% 0 - - - - - SHANK2 22941 genome.wustl.edu 37 11 70336327 70336327 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_133266.3 -1 reviewed p.P281S 0.007 91 0% 133 33.1% 0 - unknown(0) deleterious(0) - NULL SHANK2 22941 genome.wustl.edu 37 11 70507713 70507713 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012309.3 -1 reviewed p.R54* 1.000 112 0.9% 145 39.3% 1 0% - - - HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ KRTAP5-7 440050 genome.wustl.edu 37 11 71238695 71238695 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001012503.1 +1 validated p.C117R 1.000 299 0% 301 21.9% 0 - unknown(0) deleterious(0) - PatternScan_VWFC_1 KRTAP5-11 440051 genome.wustl.edu 37 11 71293666 71293666 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005405.2 -1 validated p.S73Y 0.502 290 0% 301 31.2% 0 - unknown(0) deleterious(0.05) - NULL FAM86C1 55199 genome.wustl.edu 37 11 71500891 71500891 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018172.2 +1 validated p.K53N 1.000 47 0% 107 36.4% 3 66.6% possibly_damaging(0.605) deleterious(0.01) deleterious(0.615) NULL DEFB108B 245911 genome.wustl.edu 37 11 71548577 71548577 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001002035.1 +1 provisional p.R64I 0.000 73 0% 95 43.2% 0 - possibly_damaging(0.922) tolerated(0.61) neutral(0.376) NULL LRTOMT 220074 genome.wustl.edu 37 11 71807683 71807683 + RNA SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NR_026886.1 +1 validated NULL 0.000 48 0% 54 40.7% 5 40% - - - - LRTOMT 220074 genome.wustl.edu 37 11 71807924 71807924 + RNA SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NR_026886.1 +1 validated NULL 0.027 24 0% 22 31.8% 1 0% - - - - C11orf51 25906 genome.wustl.edu 37 11 71820956 71820956 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014042.2 -1 validated p.E113K 1.000 152 0% 207 28.5% 83 25.3% benign(0.019) tolerated(0.1) neutral(0.287) NULL INPPL1 3636 genome.wustl.edu 37 11 71939864 71939864 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001567.3 +1 reviewed p.E164A 0.996 32 0% 26 30.8% 50 54% benign(0.003) tolerated(0.26) neutral(0.034) NULL LOC220077 220077 genome.wustl.edu 37 11 71961553 71961553 + RNA SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XR_017002.2 -1 model NULL 0.007 19 0% 24 37.5% 0 - - - - - LOC220077 220077 genome.wustl.edu 37 11 71961766 71961766 + RNA SNP C C T rs137932387 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XR_017002.2 -1 model NULL 0.989 32 0% 33 18.2% 0 - - - - - PDE2A 5138 genome.wustl.edu 37 11 72292005 72292005 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002599.3 -1 validated p.I686 1.000 112 0% 217 30.9% 1 0% - - - HMMPfam_PDEase_I,HMMSmart_SM00471,superfamily_HD-domain/PDEase-like PDE2A 5138 genome.wustl.edu 37 11 72296617 72296617 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002599.3 -1 validated p.K401N 1.000 140 0% 251 29.9% 0 - probably_damaging(0.959) tolerated(0.34) neutral(0.426) superfamily_GAF domain-like STARD10 10809 genome.wustl.edu 37 11 72466148 72466148 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006645.2 -1 validated p.E224K 1.000 77 0% 106 34% 457 47.9% benign(0.019) tolerated(0.31) neutral(0.028) HMMPfam_START,HMMSmart_START,superfamily_SSF55961 STARD10 10809 genome.wustl.edu 37 11 72466771 72466771 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006645.2 -1 validated p.K202T 1.000 85 0% 115 38.3% 401 45.3% benign(0.008) tolerated(0.17) neutral(0.059) HMMPfam_START,HMMSmart_START,superfamily_SSF55961 FCHSD2 9873 genome.wustl.edu 37 11 72553855 72553855 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014824.2 -1 validated p.E579D 0.999 158 0% 275 31.6% 4 50% benign(0.003) tolerated(0.9) - HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain FCHSD2 9873 genome.wustl.edu 37 11 72560875 72560875 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014824.2 -1 validated p.F456 1.000 228 0% 415 31.6% 11 27.2% unknown(0) deleterious(0) - superfamily_SH3-domain FCHSD2 9873 genome.wustl.edu 37 11 72613641 72613641 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014824.2 -1 validated p.A291T 1.000 104 0% 245 38.8% 6 50% benign(0) tolerated(0.38) neutral(0.018) NULL FCHSD2 9873 genome.wustl.edu 37 11 72700091 72700091 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014824.2 -1 validated p.D147Y 1.000 360 0% 475 31.6% 6 33.3% probably_damaging(0.988) deleterious(0) deleterious(0.882) NULL PAAF1 80227 genome.wustl.edu 37 11 73611329 73611329 + Silent SNP A A T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025155.1 +1 provisional p.G132 1.000 347 0% 704 35.7% 7 0% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 DNAJB13 374407 genome.wustl.edu 37 11 73679425 73679425 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153614.2 +1 provisional p.I214 0.235 133 0.8% 256 30.5% 2 50% - - - HMMPfam_DnaJ_C,superfamily_HSP40/DnaJ peptide-binding domain C2CD3 26005 genome.wustl.edu 37 11 73809064 73809064 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015531.4 -1 validated p.S990Y 1.000 90 0% 152 32.2% 3 66.6% probably_damaging(0.984) deleterious(0.01) deleterious(0.836) NULL P4HA3 283208 genome.wustl.edu 37 11 73979256 73979256 + Silent SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182904.3 -1 reviewed p.R500 0.999 106 0% 180 38.9% 4 0% - - - HMMPfam_2OG-FeII_Oxy,HMMSmart_SM00702 POLD3 10714 genome.wustl.edu 37 11 74329805 74329805 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006591.1 +1 validated p.E206* 1.000 124 0% 299 27.4% 7 0% - - - HMMPfam_CDC27 RNF169 254225 genome.wustl.edu 37 11 74521325 74521325 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001098638.1 +1 validated p.E225* 1.000 141 0% 269 24.5% 1 0% - - - NULL XRRA1 143570 genome.wustl.edu 37 11 74562192 74562192 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182969.1 -1 validated p.R433* 1.000 130 0% 156 23.1% 4 75% - - - superfamily_L domain-like SLCO2B1 11309 genome.wustl.edu 37 11 74875147 74875147 + Splice_Site SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007256.3 +1 validated e3+2 1.000 15 0% 16 43.8% 0 - - - - - GDPD5 81544 genome.wustl.edu 37 11 75155480 75155480 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030792.6 -1 validated p.L259F 0.149 74 0% 101 38.6% 4 0% benign(0.071) tolerated(0.35) neutral(0.026) HMMPfam_GDPD,superfamily_PLC-like phosphodiesterases DGAT2 84649 genome.wustl.edu 37 11 75508249 75508249 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032564.3 +1 validated p.K227N 1.000 130 0% 168 25.6% 1 0% possibly_damaging(0.49) tolerated(0.13) neutral(0.415) HMMPfam_DAGAT LRRC32 2615 genome.wustl.edu 37 11 76370908 76370908 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001128922.1 -1 reviewed p.G577S 0.974 41 0% 63 39.7% 6 0% probably_damaging(0.988) tolerated(0.31) neutral(0.465) superfamily_SSF52058 LRRC32 2615 genome.wustl.edu 37 11 76371068 76371068 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001128922.1 -1 reviewed p.E523D 0.976 22 0% 35 40% 7 0% benign(0.218) tolerated(0.62) neutral(0.025) superfamily_SSF52058 CAPN5 726 genome.wustl.edu 37 11 76834762 76834762 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004055.4 +1 reviewed p.E590G 1.000 90 0% 72 37.5% 11 9% benign(0.003) tolerated(0.29) neutral(0.029) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB MYO7A 4647 genome.wustl.edu 37 11 76868005 76868005 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000260.3 +1 reviewed p.A230 1.000 42 0% 63 34.9% 0 - - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO7A 4647 genome.wustl.edu 37 11 76873970 76873970 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000260.3 +1 reviewed p.K542N 1.000 331 0% 524 26% 1 0% probably_damaging(0.97) deleterious(0) deleterious(0.857) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases RSF1 51773 genome.wustl.edu 37 11 77378145 77378145 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016578.3 -1 validated p.E1381 1.000 120 0% 145 37.2% 23 39.1% - - - NULL RSF1 51773 genome.wustl.edu 37 11 77409662 77409662 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016578.3 -1 validated p.S862N 1.000 189 0% 261 36.4% 12 41.6% possibly_damaging(0.81) tolerated(0.34) neutral(0.328) NULL RSF1 51773 genome.wustl.edu 37 11 77412666 77412666 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016578.3 -1 validated p.E536D 0.982 173 0% 278 34.9% 9 44.4% benign(0.098) tolerated(0.31) neutral(0.035) NULL INTS4 92105 genome.wustl.edu 37 11 77602451 77602451 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033547.3 -1 validated p.R836W 0.997 71 0% 136 34.6% 37 45.9% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL KCTD14 65987 genome.wustl.edu 37 11 77728067 77728067 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_023930.3 -1 validated p.E114K 0.953 79 0% 131 37.4% 34 44.1% possibly_damaging(0.513) tolerated(0.58) neutral(0.177) HMMSmart_BTB,HMMPfam_K_tetra,superfamily_BTB/POZ_fold USP35 57558 genome.wustl.edu 37 11 77907300 77907300 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020798.2 +1 provisional p.K3N 1.000 33 0% 48 45.8% 0 - unknown(0) deleterious(0.01) - NULL GAB2 9846 genome.wustl.edu 37 11 77991678 77991678 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_080491.2 -1 reviewed p.I115 1.000 211 0% 304 35.2% 9 55.5% - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like GAB2 9846 genome.wustl.edu 37 11 77991828 77991828 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_080491.2 -1 reviewed p.F65L 1.000 158 0% 199 33.7% 6 0% benign(0) tolerated(1) - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like NARS2 79731 genome.wustl.edu 37 11 78152161 78152161 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024678.4 -1 validated p.S422L 0.680 102 0% 179 34.6% 21 66.6% benign(0) tolerated(1) - HMMPfam_tRNA-synt_2,superfamily_Class II aaRS and biotin synthetases NARS2 79731 genome.wustl.edu 37 11 78282480 78282480 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024678.4 -1 validated p.R51S 1.000 123 0% 222 26.6% 8 12.5% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_tRNA_anti,superfamily_Nucleic acid-binding proteins ODZ4 26011 genome.wustl.edu 37 11 78600873 78600873 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001098816.2 -1 validated p.I347 0.997 187 0% 209 28.7% 0 - - - - NULL PCF11 51585 genome.wustl.edu 37 11 82888854 82888854 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015885.3 +1 validated p.L1326 0.999 88 0% 132 29.5% 18 38.8% - - - NULL DLG2 1740 genome.wustl.edu 37 11 83173057 83173057 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142699.1 -1 reviewed p.E937* 1.000 394 0% 394 25.6% 0 - - - - HMMSmart_SM00072,HMMPfam_Gua_kin_assoc_C,superfamily_P-loop containing nucleoside triphosphate hydrolases DLG2 1740 genome.wustl.edu 37 11 83180409 83180409 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142699.1 -1 reviewed p.T818 0.413 311 0% 226 35% 0 - - - - HMMPfam_Guanylate_kin,HMMSmart_SM00072,PatternScan_GUANYLATE_KINASE_1,superfamily_P-loop containing nucleoside triphosphate hydrolases DLG2 1740 genome.wustl.edu 37 11 83344359 83344359 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142699.1 -1 reviewed p.R612Q 1.000 217 0% 198 32.8% 2 50% probably_damaging(0.999) tolerated(0.09) deleterious(0.787) superfamily_PDZ domain-like DLG2 1740 genome.wustl.edu 37 11 84865682 84865682 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142699.1 -1 reviewed p.S67N 0.908 363 0% 299 33.4% 0 - benign(0.378) tolerated(0.59) neutral(0.125) NULL TMEM126B 55863 genome.wustl.edu 37 11 85342821 85342821 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018480.2 +1 provisional p.E28* 1.000 68 0% 73 42.5% 19 26.3% - - - HMMPfam_DUF1370 SYTL2 54843 genome.wustl.edu 37 11 85407243 85407243 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_206927.2 -1 reviewed p.R1219H 1.000 147 0% 154 41.6% 7 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) SYTL2 54843 genome.wustl.edu 37 11 85407400 85407400 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_206927.2 -1 reviewed p.R1167C 1.000 247 0% 331 29% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) SYTL2 54843 genome.wustl.edu 37 11 85418483 85418483 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_206927.2 -1 reviewed p.E1036K 1.000 473 0% 522 28.4% 3 0% possibly_damaging(0.704) deleterious(0) deleterious(0.698) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) SYTL2 54843 genome.wustl.edu 37 11 85436163 85436163 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_206927.2 -1 reviewed p.P446H 0.025 64 0% 103 38.8% 0 - possibly_damaging(0.891) deleterious(0) deleterious(0.795) NULL SYTL2 54843 genome.wustl.edu 37 11 85437427 85437427 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_206927.2 -1 reviewed p.E25* 0.739 190 0% 183 29% 0 - - - - NULL SYTL2 54843 genome.wustl.edu 37 11 85447595 85447595 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032943.3 -1 reviewed p.N178H 0.986 557 0% 648 36.9% 0 - benign(0.133) tolerated(0.09) neutral(0.307) NULL CCDC83 220047 genome.wustl.edu 37 11 85623769 85623769 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173556.3 +1 provisional p.S291Y 0.872 367 0% 556 30% 0 - possibly_damaging(0.604) deleterious(0.02) deleterious(0.593) NULL PICALM 8301 genome.wustl.edu 37 11 85707892 85707892 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007166.2 -1 validated p.S412Y 1.000 148 0% 249 32.9% 40 62.5% benign(0.009) tolerated(0.12) neutral(0.261) NULL PICALM 8301 genome.wustl.edu 37 11 85723423 85723423 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007166.2 -1 validated p.E187* 1.000 228 0% 361 27.4% 17 5.8% - - - HMMPfam_ANTH,superfamily_GAT-like domain PICALM 8301 genome.wustl.edu 37 11 85737348 85737348 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007166.2 -1 validated p.K112R 1.000 257 0% 281 33.1% 20 5% benign(0.003) tolerated(0.31) neutral(0.027) superfamily_ENTH/VHS domain,HMMPfam_ANTH,HMMSmart_SM00273 ME3 10873 genome.wustl.edu 37 11 86159236 86159236 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001014811.1 -1 reviewed p.S398F 0.994 136 0% 149 28.9% 2 0% benign(0.296) deleterious(0.05) neutral(0.437) HMMPfam_Malic_M,superfamily_NAD(P)-bd ME3 10873 genome.wustl.edu 37 11 86176191 86176191 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001014811.1 -1 reviewed p.A287 1.000 282 0% 415 31.8% 0 - - - - HMMPfam_malic,superfamily_SSF53223 PRSS23 11098 genome.wustl.edu 37 11 86518704 86518704 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007173.4 +1 validated p.L7F 0.999 264 0% 258 29.8% 31 25.8% benign(0.001) tolerated(0.13) neutral(0.253) NULL GRM5 2915 genome.wustl.edu 37 11 88301131 88301131 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001143831.2 -1 reviewed p.R574* 0.973 116 0% 159 34% 0 - - - - NULL GRM5 2915 genome.wustl.edu 37 11 88330482 88330482 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001143831.2 -1 reviewed p.Y478C 1.000 283 0% 324 26.9% 0 - possibly_damaging(0.794) tolerated(0.1) deleterious(0.585) superfamily_Periplasmic binding protein-like I GRM5 2915 genome.wustl.edu 37 11 88337960 88337960 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001143831.2 -1 reviewed p.S440 0.998 165 0% 145 26.9% 0 - - - - HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I GRM5 2915 genome.wustl.edu 37 11 88338129 88338129 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001143831.2 -1 reviewed p.S384Y 0.998 105 0% 98 26.5% 0 - benign(0) tolerated(0.19) neutral(0.050) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I GRM5 2915 genome.wustl.edu 37 11 88583092 88583092 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001143831.2 -1 reviewed p.E298A 1.000 111 0% 135 30.4% 0 - possibly_damaging(0.853) tolerated(0.2) neutral(0.378) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I NOX4 50507 genome.wustl.edu 37 11 89088167 89088167 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016931.3 -1 reviewed p.E394K 0.997 307 0.3% 311 27% 10 10% benign(0.021) tolerated(0.39) neutral(0.017) HMMPfam_FAD_binding_8,superfamily_Riboflavin synthase domain-like TRIM77P 390231 genome.wustl.edu 37 11 89447447 89447447 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002343107.1 +1 model p.E199* 0.024 139 0% 201 31.3% 0 - - - - NULL TRIM77P 390231 genome.wustl.edu 37 11 89450739 89450739 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002343107.1 +1 model p.C351F 0.000 271 0.4% 280 21.1% 0 - - - - HMMPfam_SPRY TRIM49 57093 genome.wustl.edu 37 11 89531486 89531486 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020358.2 -1 reviewed p.L391I 0.002 164 0% 298 24.2% 0 - probably_damaging(0.966) deleterious(0) deleterious(0.853) HMMPfam_SPRY ENSG00000204455 0 genome.wustl.edu 37 11 89595809 89595809 + Missense_Mutation SNP C C G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000311917 +1 known p.D380E 0.000 256 0% 430 16.7% 0 - - - - HMMPfam_SPRY TRIM64B 642446 genome.wustl.edu 37 11 89604018 89604018 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000329862 -1 known p.R374I 0.002 492 0% 532 19.4% 0 - benign(0) tolerated(0.27) neutral(0.034) HMMPfam_SPRY TRIM64B 642446 genome.wustl.edu 37 11 89604038 89604038 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000329862 -1 known p.F367 0.000 420 0% 421 20% 0 - - - - HMMPfam_SPRY ENSG00000223709 0 genome.wustl.edu 37 11 89790999 89790999 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000436580 -1 known p.R373I 0.001 169 0% 242 48.3% 0 - - - - HMMPfam_SPRY,HMMSmart_SM00449 ENSG00000204449 0 genome.wustl.edu 37 11 89806361 89806361 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000432771 +1 known p.H382N 0.000 118 0% 113 19.5% 0 - possibly_damaging(0.85) deleterious(0.02) deleterious(0.710) HMMPfam_SPRY NAALAD2 10003 genome.wustl.edu 37 11 89896718 89896718 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005467.3 +1 reviewed p.R404I 1.000 196 0% 191 29.3% 2 0% unknown(0) deleterious(0) - HMMPfam_Peptidase_M28,superfamily_Zn-dependent exopeptidases ENSG00000214391 0 genome.wustl.edu 37 11 90016441 90016441 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000318973 +1 known p.E206K 1.000 261 0% 402 34.1% 164 0% - - - HMMPfam_Tubulin,superfamily_Tubulin_FtsZ FAT3 120114 genome.wustl.edu 37 11 92087768 92087768 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001008781.2 +1 validated p.V830 0.510 149 0% 141 34% 0 - - - - superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT3 120114 genome.wustl.edu 37 11 92087884 92087884 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001008781.2 +1 validated p.S869L 1.000 175 0% 151 39.1% 0 - possibly_damaging(0.943) deleterious(0.01) deleterious(0.793) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT3 120114 genome.wustl.edu 37 11 92525939 92525939 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001008781.2 +1 validated p.D1540N 1.000 238 0% 204 34.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT3 120114 genome.wustl.edu 37 11 92532184 92532184 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001008781.2 +1 validated p.A2002D 1.000 91 0% 137 29.9% 0 - probably_damaging(0.988) deleterious(0.01) deleterious(0.843) HMMPfam_Cadherin,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT3 120114 genome.wustl.edu 37 11 92532333 92532333 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001008781.2 +1 validated p.L2052 1.000 126 0% 112 33.9% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT3 120114 genome.wustl.edu 37 11 92532848 92532848 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001008781.2 +1 validated p.I2223 0.038 111 0% 133 33.1% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT3 120114 genome.wustl.edu 37 11 92533638 92533638 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001008781.2 +1 validated p.L2487F 0.687 195 0% 239 30.1% 0 - possibly_damaging(0.631) tolerated(0.08) deleterious(0.520) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT3 120114 genome.wustl.edu 37 11 92534397 92534397 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001008781.2 +1 validated p.F2740L 0.999 137 0% 177 33.9% 0 - benign(0.246) deleterious(0.02) neutral(0.408) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT3 120114 genome.wustl.edu 37 11 92592329 92592329 + Splice_Site SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001008781.2 +1 validated e20-2 1.000 234 0% 234 33.8% 0 - - - - - FAT3 120114 genome.wustl.edu 37 11 92592375 92592375 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001008781.2 +1 validated p.R3849W 1.000 309 0% 292 29.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Concanavalin A-like lectins/glucanases FAT3 120114 genome.wustl.edu 37 11 92615943 92615943 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001008781.2 +1 validated p.C4107 0.948 169 0% 130 30% 0 - - - - HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_CA,superfamily_EGF/Laminin SLC36A4 120103 genome.wustl.edu 37 11 92881895 92881895 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152313.2 -1 provisional p.S441 0.971 96 0% 41 41.5% 15 6.6% - - - HMMPfam_Aa_trans SLC36A4 120103 genome.wustl.edu 37 11 92896014 92896014 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152313.2 -1 provisional p.E299* 1.000 176 0% 183 37.2% 8 0% - - - HMMPfam_Aa_trans CCDC67 159989 genome.wustl.edu 37 11 93127778 93127778 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_181645.3 +1 validated p.K399Q 1.000 94 0% 108 31.5% 0 - possibly_damaging(0.633) deleterious(0.01) deleterious(0.627) NULL KIAA1731 85459 genome.wustl.edu 37 11 93430970 93430970 + Silent SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033395.1 +1 validated p.L964 0.955 65 0% 102 25.5% 1 0% - - - NULL KIAA1731 85459 genome.wustl.edu 37 11 93433231 93433231 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033395.1 +1 validated p.R1718I 0.384 116 0% 156 34.6% 2 100% possibly_damaging(0.951) deleterious(0) deleterious(0.839) NULL KIAA1731 85459 genome.wustl.edu 37 11 93458827 93458827 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033395.1 +1 validated p.S2110Y 0.008 171 0% 259 32% 4 75% probably_damaging(0.982) tolerated(0.21) deleterious(0.470) NULL TAF1D 79101 genome.wustl.edu 37 11 93471465 93471465 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024116.3 -1 validated p.R90I 0.696 114 0% 133 25.6% 42 35.7% benign(0.007) deleterious(0.01) neutral(0.406) NULL HEPHL1 341208 genome.wustl.edu 37 11 93796828 93796828 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001098672.1 +1 validated p.I190 0.794 109 0% 93 39.8% 0 - - - - superfamily_Cupredoxin HEPHL1 341208 genome.wustl.edu 37 11 93806546 93806546 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001098672.1 +1 validated p.S482I 1.000 152 0% 151 33.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Cupredoxin HEPHL1 341208 genome.wustl.edu 37 11 93815698 93815698 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001098672.1 +1 validated p.E611* 1.000 145 0% 127 33.9% 0 - - - - superfamily_Cupredoxin HEPHL1 341208 genome.wustl.edu 37 11 93839168 93839168 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001098672.1 +1 validated p.K973Q 0.995 224 0% 253 33.6% 0 - probably_damaging(0.999) tolerated(0.32) deleterious(0.514) superfamily_Cupredoxin,HMMPfam_Cu-oxidase_2 HEPHL1 341208 genome.wustl.edu 37 11 93844085 93844085 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001098672.1 +1 validated p.R1021Q 1.000 252 0% 226 29.6% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_Cupredoxin,HMMPfam_Cu-oxidase_2 PANX1 24145 genome.wustl.edu 37 11 93914016 93914016 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015368.3 +1 reviewed p.L421R 0.997 346 0% 351 39% 7 57.1% probably_damaging(1) deleterious(0) deleterious(0.945) NULL MRE11A 4361 genome.wustl.edu 37 11 94192696 94192696 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005591.3 -1 reviewed p.E460* 1.000 339 0% 441 32.2% 6 0% - - - HMMPfam_Mre11_DNA_bind PIWIL4 143689 genome.wustl.edu 37 11 94340634 94340634 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152431.2 +1 validated p.K556N 1.000 253 0.4% 277 28.9% 1 0% probably_damaging(0.994) deleterious(0.03) deleterious(0.817) HMMPfam_Piwi,superfamily_Ribonuclease H-like AMOTL1 154810 genome.wustl.edu 37 11 94501681 94501681 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_130847.2 +1 reviewed p.W2R 0.998 54 0% 66 40.9% 2 50% benign(0) tolerated(0.68) neutral(0.002) NULL AMOTL1 154810 genome.wustl.edu 37 11 94528264 94528264 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_130847.2 +1 reviewed p.S46Y 0.995 165 0% 262 32.1% 2 0% possibly_damaging(0.926) deleterious(0) deleterious(0.819) NULL AMOTL1 154810 genome.wustl.edu 37 11 94564656 94564656 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_130847.2 +1 reviewed p.E533K 1.000 168 0% 230 31.3% 5 40% possibly_damaging(0.902) tolerated(0.07) deleterious(0.676) NULL KDM4DL 390245 genome.wustl.edu 37 11 94759472 94759472 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000450979 +1 known p.L251I 0.925 101 0% 131 42.7% 0 - probably_damaging(0.988) deleterious(0.02) deleterious(0.821) HMMSmart_JmjC,HMMPfam_JmjC KDM4DL 390245 genome.wustl.edu 37 11 94760160 94760160 + Nonsense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000450979 +1 known p.L480* 0.000 107 0% 201 33.3% 0 - - - - NULL CEP57 9702 genome.wustl.edu 37 11 95555087 95555087 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014679.3 +1 validated p.P251L 0.009 140 0% 138 39.1% 13 38.4% benign(0.002) deleterious(0.01) neutral(0.406) HMMPfam_DUF1167 MTMR2 8898 genome.wustl.edu 37 11 95568575 95568575 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016156.5 -1 reviewed p.R604Q 1.000 263 0% 151 31.8% 25 36% possibly_damaging(0.513) tolerated(0.3) neutral(0.201) NULL JRKL 8690 genome.wustl.edu 37 11 96124636 96124636 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003772.3 +1 reviewed p.R275* 0.953 70 0% 139 26.6% 8 62.5% - - - HMMPfam_DDE CNTN5 53942 genome.wustl.edu 37 11 99690268 99690268 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000279463 +1 known p.L1I 0.945 82 0% 93 36.6% 0 - - - - NULL CNTN5 53942 genome.wustl.edu 37 11 100126538 100126538 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014361.2 +1 reviewed p.E684 0.872 162 0% 282 31.6% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,superfamily_Immunoglobulin CNTN5 53942 genome.wustl.edu 37 11 100169929 100169929 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014361.2 +1 reviewed p.F807 1.000 113 0% 45 33.3% 1 100% - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III ARHGAP42 143872 genome.wustl.edu 37 11 100792260 100792260 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152432.2 +1 provisional p.F174L 1.000 131 0% 97 28.9% 1 0% probably_damaging(0.994) deleterious(0.04) deleterious(0.801) NULL ARHGAP42 143872 genome.wustl.edu 37 11 100819223 100819223 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152432.2 +1 provisional p.A360D 1.000 135 0% 73 32.9% 0 - benign(0.226) tolerated(0.53) neutral(0.030) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like ARHGAP42 143872 genome.wustl.edu 37 11 100843949 100843949 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152432.2 +1 provisional p.L532I 1.000 105 0% 105 34.3% 3 66.6% probably_damaging(0.974) deleterious(0.01) deleterious(0.822) HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP TRPC6 7225 genome.wustl.edu 37 11 101359799 101359799 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004621.5 -1 reviewed p.L388I 0.997 91 0% 146 36.3% 0 - possibly_damaging(0.951) tolerated(0.1) deleterious(0.680) NULL KIAA1377 57562 genome.wustl.edu 37 11 101793446 101793446 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020802.2 +1 validated p.R68Q 1.000 161 0% 218 29.8% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL KIAA1377 57562 genome.wustl.edu 37 11 101832972 101832972 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020802.2 +1 validated p.F402L 0.003 32 0% 52 26.9% 1 100% benign(0.004) tolerated(1) - NULL KIAA1377 57562 genome.wustl.edu 37 11 101833221 101833221 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020802.2 +1 validated p.I485M 0.046 96 0% 137 38% 1 100% benign(0.028) deleterious(0.02) neutral(0.385) NULL KIAA1377 57562 genome.wustl.edu 37 11 101834276 101834276 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020802.2 +1 validated p.S837Y 0.000 175 0% 193 31.1% 1 100% benign(0) tolerated(1) - NULL C11orf70 85016 genome.wustl.edu 37 11 101951950 101951950 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032930.1 +1 predicted p.R167* 1.000 151 0% 238 38.7% 12 25% - - - NULL BIRC3 330 genome.wustl.edu 37 11 102199655 102199655 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001165.3 +1 reviewed p.D354Y 1.000 42 0% 65 10.8% 2 0% probably_damaging(0.974) deleterious(0.02) deleterious(0.799) superfamily_SSF57924 MMP8 4317 genome.wustl.edu 37 11 102584157 102584157 + Nonsense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002424.2 -1 reviewed p.Y442* 0.206 234 0% 214 37.9% 0 - - - - superfamily_Hemopexin,HMMPfam_Hemopexin,HMMSmart_HX MMP1 4312 genome.wustl.edu 37 11 102665952 102665952 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002421.3 -1 reviewed p.F284 0.954 251 0% 300 29.3% 1 0% - - - superfamily_Hemopexin,HMMPfam_Hemopexin,HMMSmart_HX MMP12 4321 genome.wustl.edu 37 11 102745643 102745643 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000326227 -1 known p.L9 0.002 191 0% 208 36.1% 0 - - - - NULL MMP13 4322 genome.wustl.edu 37 11 102819780 102819780 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002427.3 -1 reviewed p.S342Y 0.001 189 0% 201 29.9% 0 - benign(0.062) deleterious(0.04) neutral(0.353) superfamily_Hemopexin,HMMPfam_Hemopexin,HMMSmart_HX DYNC2H1 79659 genome.wustl.edu 37 11 103014039 103014039 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080463.1 +1 reviewed p.E873* 1.000 323 0% 457 32.2% 0 - - - - NULL DYNC2H1 79659 genome.wustl.edu 37 11 103026059 103026059 + Splice_Site SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080463.1 +1 reviewed e25-1 1.000 159 0% 139 27.3% 0 - - - - - DYNC2H1 79659 genome.wustl.edu 37 11 103047131 103047131 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080463.1 +1 reviewed p.E1948* 1.000 187 0% 170 35.3% 0 - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases DYNC2H1 79659 genome.wustl.edu 37 11 103062276 103062276 + Missense_Mutation SNP A A T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080463.1 +1 reviewed p.S2490C 1.000 442 0% 514 34% 0 - probably_damaging(0.968) tolerated(0.09) deleterious(0.706) superfamily_P-loop containing nucleoside triphosphate hydrolases DYNC2H1 79659 genome.wustl.edu 37 11 103104762 103104762 + Splice_Site SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080463.1 +1 reviewed e61-1 1.000 105 0% 72 37.5% 0 - - - - - DYNC2H1 79659 genome.wustl.edu 37 11 103191810 103191810 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080463.1 +1 reviewed p.I3933M 1.000 223 0% 217 32.7% 9 33.3% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_Dynein_heavy CASP1 834 genome.wustl.edu 37 11 104901930 104901930 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033292.2 -1 reviewed p.E139* 0.016 302 0% 229 36.7% 5 0% - - - superfamily_Caspase-like CARD16 114769 genome.wustl.edu 37 11 104912293 104912293 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001017534.1 -1 validated p.R143I 0.038 179 0% 137 25.5% 1 0% unknown(0) - - NULL GRIA4 2893 genome.wustl.edu 37 11 105483047 105483047 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000829.3 +1 reviewed p.R45* 1.000 245 0% 236 32.2% 0 - - - - HMMPfam_ANF_receptor,superfamily_SSF53822 MSANTD4 84437 genome.wustl.edu 37 11 105881303 105881303 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032424.1 -1 validated p.K114N 1.000 247 0% 281 27% 7 57.1% probably_damaging(0.97) tolerated(0.06) deleterious(0.735) NULL AASDHPPT 60496 genome.wustl.edu 37 11 105950307 105950307 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015423.2 +1 reviewed p.S99 0.369 126 0% 188 34% 23 47.8% - - - superfamily_4-PPT_transf ELMOD1 55531 genome.wustl.edu 37 11 107501440 107501440 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018712.3 +1 validated p.D60N 0.995 250 0% 189 32.3% 0 - benign(0) tolerated(0.31) neutral(0.027) NULL RAB39A 54734 genome.wustl.edu 37 11 107833084 107833084 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017516.1 +1 provisional p.E214* 1.000 53 0% 108 38.9% 0 - - - - HMMSmart_SM00176,superfamily_P-loop containing nucleoside triphosphate hydrolases CUL5 8065 genome.wustl.edu 37 11 107966303 107966303 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003478.3 +1 validated p.T597M 1.000 131 0% 218 33% 5 80% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cullin,superfamily_Cullin homology domain CUL5 8065 genome.wustl.edu 37 11 107969240 107969240 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003478.3 +1 validated p.R711Q 1.000 69 0% 150 29.3% 6 50% probably_damaging(1) deleterious(0) deleterious(0.945) "HMMPfam_Cullin_Nedd8,superfamily_""Winged helix"" DNA-binding domain" ACAT1 38 genome.wustl.edu 37 11 108002641 108002641 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000019.3 +1 reviewed p.R27I 0.424 49 0% 51 29.4% 4 0% possibly_damaging(0.833) deleterious(0) deleterious(0.762) NULL ACAT1 38 genome.wustl.edu 37 11 108009763 108009763 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000019.3 +1 reviewed p.H192N 1.000 145 0% 318 28.6% 20 40% probably_damaging(0.998) tolerated(0.17) deleterious(0.533) HMMPfam_Thiolase_N,superfamily_Thiolase-like ATM 472 genome.wustl.edu 37 11 108115600 108115600 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000051.3 +1 reviewed p.R250* 0.997 211 0% 261 27.6% 1 0% - - - NULL ATM 472 genome.wustl.edu 37 11 108216486 108216486 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000051.3 +1 reviewed p.S2812Y 0.979 105 0% 92 35.9% 5 100% possibly_damaging(0.822) tolerated(0.28) neutral(0.343) HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,superfamily_Protein kinase-like (PK-like),superfamily_ARM repeat EXPH5 23086 genome.wustl.edu 37 11 108380473 108380473 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015065.2 -1 validated p.F1921V 1.000 147 0% 215 34.9% 6 16.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL EXPH5 23086 genome.wustl.edu 37 11 108381917 108381917 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015065.2 -1 validated p.Q1439H 0.000 155 0% 211 35.1% 1 100% benign(0.006) deleterious(0) neutral(0.445) NULL EXPH5 23086 genome.wustl.edu 37 11 108384444 108384444 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015065.2 -1 validated p.L597S 0.000 81 0% 84 23.8% 0 - benign(0.113) tolerated(0.31) neutral(0.036) NULL DDX10 1662 genome.wustl.edu 37 11 108593996 108593996 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004398.2 +1 reviewed p.E591A 0.023 210 0% 286 30.8% 20 50% benign(0.032) tolerated(0.17) neutral(0.060) NULL ZC3H12C 85463 genome.wustl.edu 37 11 110030212 110030212 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033390.1 +1 validated p.D382G 1.000 68 0% 82 31.7% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL RDX 5962 genome.wustl.edu 37 11 110108305 110108305 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002906.3 -1 reviewed p.R388Q 1.000 310 0% 475 32.8% 10 0% benign(0.105) tolerated(0.4) neutral(0.024) HMMPfam_ERM RDX 5962 genome.wustl.edu 37 11 110124752 110124752 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002906.3 -1 reviewed p.R293Q 1.000 226 0% 293 28.3% 8 0% possibly_damaging(0.564) deleterious(0) deleterious(0.637) HMMPfam_FERM_C,superfamily_PH domain-like RDX 5962 genome.wustl.edu 37 11 110134830 110134830 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002906.3 -1 reviewed p.E108* 1.000 113 0% 154 20.1% 7 0% - - - HMMPfam_FERM_M,superfamily_Second domain of FERM,HMMSmart_SM00295 ARHGAP20 57569 genome.wustl.edu 37 11 110450673 110450673 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020809.2 -1 validated p.S999 0.087 85 0% 114 28.1% 0 - - - - NULL ARHGAP20 57569 genome.wustl.edu 37 11 110457032 110457032 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020809.2 -1 validated p.I441 0.999 87 0% 57 45.6% 0 - - - - HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP BTG4 54766 genome.wustl.edu 37 11 111369461 111369461 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017589.2 -1 reviewed p.R14I 1.000 248 0% 232 28.9% 0 - probably_damaging(0.957) deleterious(0.01) deleterious(0.806) HMMPfam_BTG,HMMSmart_btg1 C11orf88 399949 genome.wustl.edu 37 11 111385664 111385664 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_207430.2 +1 validated p.S52F 0.992 66 0% 67 32.8% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL SIK2 23235 genome.wustl.edu 37 11 111574103 111574103 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015191.1 +1 validated p.R302* 1.000 120 0% 178 32% 4 25% - - - superfamily_Protein kinase-like (PK-like) SIK2 23235 genome.wustl.edu 37 11 111575755 111575755 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015191.1 +1 validated p.F331 1.000 212 0% 276 31.9% 3 33.3% - - - superfamily_Protein kinase-like (PK-like) BCO2 83875 genome.wustl.edu 37 11 112065435 112065435 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031938.4 +1 validated p.L231 0.816 202 0% 272 34.2% 0 - - - - HMMPfam_RPE65 BCO2 83875 genome.wustl.edu 37 11 112072759 112072759 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031938.4 +1 validated p.R347K 0.114 149 0% 215 32.1% 0 - benign(0) tolerated(1) - HMMPfam_RPE65 NCAM1 4684 genome.wustl.edu 37 11 113130947 113130947 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000401611 +1 known p.A585V 0.998 225 0% 294 36.7% 3 66.6% benign(0.001) tolerated(0.16) neutral(0.059) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like LOC100288346 100288346 genome.wustl.edu 37 11 113140924 113140924 + Splice_Site SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002343129.1 -1 model e2+2 0.954 168 0% 114 47.4% 5 60% benign(0.003) tolerated(0.72) neutral(0.002) - NCAM1 4684 genome.wustl.edu 37 11 113142517 113142517 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000433634 +1 known p.R247Q 1.000 108 0% 191 31.9% 3 33.3% probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL DRD2 1813 genome.wustl.edu 37 11 113288842 113288842 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000795.3 -1 reviewed p.K101T 1.000 130 0% 188 34.6% 0 - benign(0) tolerated(0.59) neutral(0.004) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like LOC390251 390251 genome.wustl.edu 37 11 113660410 113660410 + RNA SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XR_016610.3 +1 model NULL 0.491 35 0% 48 25% 2 0% - - - - LOC390251 390251 genome.wustl.edu 37 11 113660567 113660567 + RNA SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XR_016610.3 +1 model NULL 1.000 25 0% 24 33.3% 0 - - - - - USP28 57646 genome.wustl.edu 37 11 113704272 113704272 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020886.2 -1 validated p.R210I 1.000 104 0% 160 32.5% 8 37.5% probably_damaging(0.994) deleterious(0.03) deleterious(0.817) HMMPfam_UCH,superfamily_Cysteine proteinases HTR3B 9177 genome.wustl.edu 37 11 113802114 113802114 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006028.3 +1 reviewed p.E74D 1.000 207 0% 207 30.4% 0 - benign(0.202) deleterious(0.05) neutral(0.365) HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like HTR3B 9177 genome.wustl.edu 37 11 113802536 113802536 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006028.3 +1 reviewed p.E105D 1.000 160 0% 211 27.5% 0 - possibly_damaging(0.919) tolerated(0.06) deleterious(0.692) HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like ZBTB16 7704 genome.wustl.edu 37 11 113934498 113934498 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001018011.1 +1 reviewed p.S159L 1.000 35 0% 53 47.2% 0 - benign(0.429) deleterious(0.01) deleterious(0.545) NULL ZBTB16 7704 genome.wustl.edu 37 11 114057719 114057719 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001018011.1 +1 reviewed p.S471L 0.991 244 0% 362 34.8% 1 0% benign(0.235) deleterious(0.02) neutral(0.407) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers NNMT 4837 genome.wustl.edu 37 11 114183101 114183101 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006169.2 +1 reviewed p.E233K 0.000 92 0% 86 31.4% 146 0% benign(0.001) tolerated(0.11) neutral(0.272) HMMPfam_NNMT_PNMT_TEMT,superfamily_S-adenosyl-L-methionine-dependent methyltransferases RBM7 10179 genome.wustl.edu 37 11 114278296 114278296 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016090.2 +1 provisional p.R190C 1.000 152 0% 274 37.2% 22 45.4% benign(0.08) deleterious(0.01) neutral(0.411) NULL BUD13 84811 genome.wustl.edu 37 11 116640871 116640871 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032725.3 -1 validated p.E71* 1.000 276 0% 497 19.7% 6 16.6% - - - NULL ZNF259 8882 genome.wustl.edu 37 11 116654314 116654314 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003904.3 -1 provisional p.E305* 1.000 184 0% 307 31.6% 54 16.6% - - - HMMPfam_zf-ZPR1,HMMSmart_Zpr1 ZNF259 8882 genome.wustl.edu 37 11 116657731 116657731 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003904.3 -1 provisional p.R126S 1.000 191 0% 262 35.9% 25 8% benign(0.023) tolerated(0.61) neutral(0.005) HMMPfam_zf-ZPR1,HMMSmart_Zpr1 APOA4 337 genome.wustl.edu 37 11 116691607 116691607 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000482.3 -1 reviewed p.Q389H 0.002 59 0% 64 37.5% 0 - unknown(0) tolerated(0.05) - NULL SIK3 23387 genome.wustl.edu 37 11 116732935 116732935 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025164.3 -1 validated p.L632I 1.000 305 0% 584 35.6% 5 20% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) superfamily_Protein kinase-like (PK-like) SIK3 23387 genome.wustl.edu 37 11 116767013 116767013 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025164.3 -1 validated p.R216H 1.000 88 0% 155 27.7% 2 0% probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase PCSK7 9159 genome.wustl.edu 37 11 117100340 117100340 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004716.2 -1 reviewed p.A74V 0.913 30 0% 47 29.8% 19 47.3% possibly_damaging(0.643) deleterious(0) deleterious(0.670) NULL RNF214 257160 genome.wustl.edu 37 11 117110559 117110559 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001077239.1 +1 validated p.D221Y 1.000 132 0% 199 32.7% 16 31.2% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL CEP164 22897 genome.wustl.edu 37 11 117261929 117261929 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014956.4 +1 validated p.E761* 0.994 47 0% 88 29.5% 7 14.2% - - - NULL DSCAML1 57453 genome.wustl.edu 37 11 117375658 117375658 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020693.2 -1 provisional p.V781 1.000 104 0% 126 38.1% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin FXYD6 53826 genome.wustl.edu 37 11 117712733 117712733 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022003.2 -1 reviewed p.K23N 1.000 185 0% 314 36% 4 0% benign(0.034) tolerated(0.37) neutral(0.021) HMMPfam_ATP1G1_PLM_MAT8 FXYD6 53826 genome.wustl.edu 37 11 117713433 117713433 + Splice_Site SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022003.2 -1 reviewed e1+1 1.000 71 0% 52 40.4% 0 - - - - - TMPRSS4 56649 genome.wustl.edu 37 11 117985920 117985920 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019894.3 +1 reviewed p.D359 0.044 81 0% 137 29.9% 87 34.4% - - - HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases SCN4B 6330 genome.wustl.edu 37 11 118007622 118007622 + RNA SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NR_024527.1 -1 reviewed NULL 0.528 59 0% 58 48.3% 0 - - - - - SCN4B 6330 genome.wustl.edu 37 11 118015883 118015883 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_174934.3 -1 reviewed p.I41 0.999 107 0% 178 36% 0 - - - - HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin CD3E 916 genome.wustl.edu 37 11 118184528 118184528 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000733.3 +1 reviewed p.K153N 0.987 80 0% 94 45.7% 23 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CD3G 917 genome.wustl.edu 37 11 118221314 118221314 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000073.2 +1 reviewed p.L119I 0.094 208 0% 439 35.5% 1 0% benign(0) tolerated(1) - NULL UBE4A 9354 genome.wustl.edu 37 11 118245629 118245629 + Missense_Mutation SNP G G A rs34527432 TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004788.2 +1 reviewed p.E386K 1.000 75 0% 104 30.8% 9 33.3% benign(0.139) tolerated(0.06) neutral(0.335) HMMPfam_Ufd2P_core TREH 11181 genome.wustl.edu 37 11 118533511 118533511 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000450700 -1 known p.F47 0.000 34 0% 48 25% 0 - - - - NULL UPK2 7379 genome.wustl.edu 37 11 118828923 118828923 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006760.3 +1 reviewed p.A179S 1.000 49 0% 73 38.4% 0 - benign(0.397) tolerated(0.1) neutral(0.414) HMMPfam_Uroplakin_II DPAGT1 1798 genome.wustl.edu 37 11 118971797 118971797 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001382.3 -1 reviewed p.F71L 1.000 39 0% 90 37.8% 30 20% probably_damaging(0.978) deleterious(0) deleterious(0.865) NULL C2CD2L 9854 genome.wustl.edu 37 11 118981996 118981996 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014807.3 +1 validated p.M274I 0.003 156 0% 281 33.5% 38 36.8% benign(0) tolerated(0.3) neutral(0.029) superfamily_C2_CaLB MFRP 83552 genome.wustl.edu 37 11 119216175 119216175 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031433.2 -1 reviewed p.F199C 0.971 50 0% 96 29.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain MFRP 83552 genome.wustl.edu 37 11 119216629 119216629 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031433.2 -1 reviewed p.A94V 0.928 80 0% 152 36.2% 0 - probably_damaging(0.978) deleterious(0) deleterious(0.865) NULL LOC100130353 100130353 genome.wustl.edu 37 11 119274293 119274293 + RNA SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XR_078444.1 +1 model NULL 0.949 112 0% 120 32.5% 0 - - - - - PVRL1 5818 genome.wustl.edu 37 11 119510641 119510641 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_203285.1 -1 reviewed p.A362V 0.000 35 0% 55 29.1% 0 - benign(0.001) tolerated(1) - NULL TRIM29 23650 genome.wustl.edu 37 11 119986053 119986053 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012101.3 -1 reviewed p.T566N 0.766 101 0% 165 18.2% 1 0% probably_damaging(0.958) deleterious(0.01) deleterious(0.807) NULL ARHGEF12 23365 genome.wustl.edu 37 11 120319861 120319861 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015313.1 +1 reviewed p.R594Q 1.000 81 0% 123 25.2% 7 71.4% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL GRIK4 2900 genome.wustl.edu 37 11 120690559 120690559 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014619.2 +1 reviewed p.S147 1.000 153 0% 211 23.2% 0 - - - - HMMPfam_ANF_receptor,superfamily_SSF53822 TECTA 7007 genome.wustl.edu 37 11 120973417 120973417 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005422.2 +1 reviewed p.F15V 1.000 189 0% 153 29.4% 0 - benign(0) tolerated(0.77) neutral(0.001) NULL TECTA 7007 genome.wustl.edu 37 11 121028717 121028717 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005422.2 +1 reviewed p.G1491 0.788 42 0% 50 38% 0 - - - - HMMPfam_VWD,HMMSmart_SM00216 BSX 390259 genome.wustl.edu 37 11 122852141 122852141 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001098169.1 -1 validated p.H80P 1.000 78 0% 158 29.1% 1 0% benign(0.001) tolerated(0.25) neutral(0.037) NULL HSPA8 3312 genome.wustl.edu 37 11 122930609 122930609 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006597.3 -1 reviewed p.E231A 1.000 72 0% 130 35.4% 550 55.6% possibly_damaging(0.804) deleterious(0) deleterious(0.747) HMMPfam_HSP70,superfamily_Actin-like ATPase domain GRAMD1B 57476 genome.wustl.edu 37 11 123448102 123448102 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020716.1 +1 validated p.T17 0.933 24 0% 31 35.5% 0 - - - - NULL ZNF202 7753 genome.wustl.edu 37 11 123600393 123600393 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003455.2 -1 validated p.S181 0.768 159 0% 172 32.6% 1 0% - - - NULL OR6X1 390260 genome.wustl.edu 37 11 123624897 123624897 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005188.1 -1 provisional p.F110L 0.001 245 0% 434 35% 0 - possibly_damaging(0.81) deleterious(0.01) deleterious(0.711) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like OR6M1 390261 genome.wustl.edu 37 11 123676786 123676786 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005325.1 -1 provisional p.S91Y 0.162 146 0% 146 30.1% 0 - benign(0.405) deleterious(0.01) deleterious(0.536) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR6M1 390261 genome.wustl.edu 37 11 123676802 123676802 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005325.1 -1 provisional p.E86K 0.007 157 0% 179 34.1% 0 - benign(0.002) tolerated(0.18) neutral(0.056) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like TMEM225 338661 genome.wustl.edu 37 11 123754790 123754790 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001013743.1 -1 provisional p.S152Y 0.000 137 0% 99 25.3% 0 - benign(0.045) tolerated(0.51) neutral(0.011) NULL OR4D5 219875 genome.wustl.edu 37 11 123811166 123811166 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001001965.1 +1 provisional p.M281I 0.897 107 0% 202 31.7% 0 - benign(0) tolerated(0.09) neutral(0.296) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR4D5 219875 genome.wustl.edu 37 11 123811220 123811220 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001001965.1 +1 provisional p.K299N 0.995 70 0% 108 31.5% 0 - probably_damaging(0.991) deleterious(0.03) deleterious(0.808) superfamily_Family A G protein-coupled receptor-like OR10G4 390264 genome.wustl.edu 37 11 123887150 123887150 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004462.1 +1 provisional p.R290I 1.000 195 0.5% 241 29.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF81321 VWA5A 4013 genome.wustl.edu 37 11 123994475 123994475 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001130142.1 +1 validated p.I376M 0.698 126 0% 156 32.7% 12 50% probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like OR8G5 219865 genome.wustl.edu 37 11 124121033 124121033 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000341493 +1 known p.A204V 0.000 377 0% 376 33.8% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR8G5 219865 genome.wustl.edu 37 11 124135375 124135375 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005198.1 +1 provisional p.S218Y 0.001 310 0% 489 32.9% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR8G5 219865 genome.wustl.edu 37 11 124135654 124135654 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005198.1 +1 provisional p.V311A 0.326 251 0% 284 26.8% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR8D2 283160 genome.wustl.edu 37 11 124189622 124189622 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001002918.1 -1 provisional p.V158F 0.000 122 0% 109 43.1% 0 - possibly_damaging(0.819) tolerated(0.1) deleterious(0.596) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR8B8 26493 genome.wustl.edu 37 11 124310725 124310725 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012378.1 -1 provisional p.V86G 0.656 215 0% 436 33.9% 0 - possibly_damaging(0.864) deleterious(0) deleterious(0.779) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR8A1 390275 genome.wustl.edu 37 11 124440688 124440688 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005194.1 +1 provisional p.L242I 0.990 168 0% 240 30% 0 - possibly_damaging(0.758) tolerated(0.09) deleterious(0.577) HMMPfam_7tm_1,superfamily_SSF81321 PANX3 116337 genome.wustl.edu 37 11 124489589 124489589 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_052959.2 +1 reviewed p.L313I 1.000 270 0% 396 31.3% 0 - possibly_damaging(0.95) tolerated(0.54) neutral(0.401) NULL SIAE 54414 genome.wustl.edu 37 11 124509731 124509731 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_170601.3 -1 validated p.D333 0.004 131 0% 150 28.7% 7 42.8% - - - NULL SIAE 54414 genome.wustl.edu 37 11 124530643 124530643 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_170601.3 -1 validated p.E96K 0.342 129 0% 233 34.3% 5 40% benign(0) tolerated(0.74) neutral(0.002) NULL MSANTD2 79684 genome.wustl.edu 37 11 124637424 124637424 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024631.2 -1 validated p.S391F 0.003 86 0% 124 35.5% 9 22.2% benign(0.003) deleterious(0.05) neutral(0.345) NULL ROBO4 54538 genome.wustl.edu 37 11 124756589 124756589 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019055.5 -1 validated p.V855 0.000 51 0% 82 36.6% 8 0% - - - NULL CCDC15 80071 genome.wustl.edu 37 11 124824662 124824662 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025004.2 +1 validated p.N12H 0.000 141 0% 238 31.1% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL CCDC15 80071 genome.wustl.edu 37 11 124856678 124856678 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025004.2 +1 validated p.S265Y 0.016 112 0.9% 280 38.2% 1 0% probably_damaging(0.991) tolerated(0.06) deleterious(0.766) NULL SLC37A2 219855 genome.wustl.edu 37 11 124951781 124951781 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198277.2 +1 validated p.F288L 0.938 77 0% 118 31.4% 2 0% benign(0.086) tolerated(0.17) neutral(0.066) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter STT3A 3703 genome.wustl.edu 37 11 125465872 125465872 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152713.3 +1 validated p.L21P 1.000 293 0% 544 25% 95 28.4% benign(0.208) tolerated(0.11) neutral(0.292) HMMPfam_STT3 ACRV1 56 genome.wustl.edu 37 11 125548067 125548067 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001612.4 -1 reviewed p.S60A 0.835 76 0% 90 31.1% 0 - benign(0.021) tolerated(0.39) neutral(0.017) NULL PATE1 160065 genome.wustl.edu 37 11 125616252 125616252 + Splice_Site SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138294.2 +1 validated e1+1 0.902 223 0% 156 32.7% 0 - - - - - DDX25 29118 genome.wustl.edu 37 11 125780330 125780330 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013264.3 +1 reviewed p.F193L 1.000 441 0% 802 36% 0 - possibly_damaging(0.903) deleterious(0) deleterious(0.802) HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases CDON 50937 genome.wustl.edu 37 11 125891281 125891281 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016952.4 -1 validated p.N71H 0.077 188 0% 207 33.3% 1 0% probably_damaging(0.977) tolerated(0.22) neutral(0.461) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin FAM118B 79607 genome.wustl.edu 37 11 126110835 126110835 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024556.3 +1 validated p.F79V 1.000 88 0% 120 26.7% 17 52.9% probably_damaging(0.978) tolerated(0.25) neutral(0.457) NULL FOXRED1 55572 genome.wustl.edu 37 11 126146037 126146037 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017547.2 +1 provisional p.I298 0.005 20 0% 32 28.1% 29 51.7% - - - HMMPfam_DAO,superfamily_FAD/NAD(P)-binding domain KIRREL3 84623 genome.wustl.edu 37 11 126432806 126432806 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032531.3 -1 reviewed p.E19 1.000 193 0% 233 30.9% 0 - - - - NULL KCNJ5 3762 genome.wustl.edu 37 11 128781510 128781510 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000890.3 +1 reviewed p.I114 1.000 187 0% 279 35.8% 1 0% - - - HMMPfam_IRK,superfamily_SSF81324 ARHGAP32 9743 genome.wustl.edu 37 11 128850515 128850515 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142685.1 -1 validated p.E623K 1.000 184 0% 173 31.2% 1 0% benign(0.221) deleterious(0.05) neutral(0.367) NULL BARX2 8538 genome.wustl.edu 37 11 129306882 129306882 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003658.4 +1 reviewed p.E142K 1.000 54 0% 81 39.5% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like NFRKB 4798 genome.wustl.edu 37 11 129744065 129744065 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006165.3 -1 validated p.S766L 0.160 218 0% 572 31.6% 7 57.1% unknown(0) deleterious(0.04) - NULL NFRKB 4798 genome.wustl.edu 37 11 129755505 129755505 + Splice_Site SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006165.3 -1 validated e4-1 1.000 46 0% 53 41.5% 4 100% - - - - NFRKB 4798 genome.wustl.edu 37 11 129758685 129758685 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006165.3 -1 validated p.E60D 1.000 79 0% 145 30.3% 5 20% benign(0.001) tolerated(0.67) neutral(0.003) NULL PRDM10 56980 genome.wustl.edu 37 11 129784892 129784892 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020228.2 -1 reviewed p.R854* 1.000 141 0.7% 246 34.1% 0 - - - - PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZBTB44 29068 genome.wustl.edu 37 11 130131604 130131604 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014155.4 -1 validated p.F55L 1.000 161 0% 188 34.6% 4 75% possibly_damaging(0.94) tolerated(0.05) deleterious(0.730) HMMSmart_BTB,superfamily_BTB/POZ_fold,HMMPfam_BTB ADAMTS15 170689 genome.wustl.edu 37 11 130343213 130343213 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_139055.2 +1 reviewed p.L784I 1.000 22 0% 30 36.7% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_ADAM_spacer1 SNX19 399979 genome.wustl.edu 37 11 130749591 130749591 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014758.2 -1 validated p.I925S 1.000 201 0% 263 30.8% 8 25% possibly_damaging(0.914) deleterious(0) deleterious(0.810) HMMPfam_Nexin_C OPCML 4978 genome.wustl.edu 37 11 132204989 132204989 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000425719 +1 known p.A206V 1.000 103 0% 91 37.4% 3 0% - - - NULL LOC100128095 100128095 genome.wustl.edu 37 11 132813230 132813230 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002343137.1 +1 model p.S155Y 0.946 22 0% 17 29.4% 0 - - - - NULL IGSF9B 22997 genome.wustl.edu 37 11 133790997 133790997 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014987.1 -1 validated p.E875K 0.999 93 0% 91 41.8% 0 - benign(0.243) deleterious(0) deleterious(0.469) NULL IGSF9B 22997 genome.wustl.edu 37 11 133791078 133791078 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014987.1 -1 validated p.E848K 1.000 82 1.2% 86 73.3% 0 - probably_damaging(0.977) deleterious(0) deleterious(0.863) NULL IGSF9B 22997 genome.wustl.edu 37 11 133795709 133795709 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014987.1 -1 validated p.V653 0.008 68 0% 105 31.4% 0 - - - - HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like NCAPD3 23310 genome.wustl.edu 37 11 134054820 134054820 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015261.2 -1 validated p.K771 0.019 164 0% 239 28.5% 14 42.8% - - - superfamily_ARM-type_fold VPS26B 112936 genome.wustl.edu 37 11 134109908 134109908 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_052875.3 +1 validated p.S135N 1.000 130 0% 219 32.9% 27 44.4% benign(0.002) tolerated(0.56) neutral(0.006) HMMPfam_Vps26 VPS26B 112936 genome.wustl.edu 37 11 134115410 134115410 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_052875.3 +1 validated p.R313C 1.000 84 0% 106 29.2% 56 32.1% probably_damaging(0.994) tolerated(0.1) deleterious(0.738) NULL GLB1L3 112937 genome.wustl.edu 37 11 134180494 134180494 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080407.2 +1 validated p.D377N 0.994 126 0% 136 34.6% 0 - probably_damaging(0.995) tolerated(0.12) deleterious(0.718) HMMPfam_Glyco_hydro_35 GLB1L2 89944 genome.wustl.edu 37 11 134234254 134234254 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138342.3 +1 validated p.E256K 0.703 217 0% 265 33.6% 19 36.8% benign(0) tolerated(1) - HMMPfam_Glyco_hydro_35,superfamily_Glyco_hydro_cat SLC6A12 6539 genome.wustl.edu 37 12 301665 301665 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001122847.1 -1 validated p.K560N 0.869 83 0% 203 28.1% 0 - benign(0.01) tolerated(0.2) neutral(0.050) HMMPfam_SNF SLC6A13 6540 genome.wustl.edu 37 12 335629 335629 + Silent SNP G G C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016615.2 -1 provisional p.G329 0.810 74 0% 138 44.9% 0 - - - - HMMPfam_SNF SLC6A13 6540 genome.wustl.edu 37 12 369007 369007 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000436453 -1 known p.R71I 0.530 140 0% 148 42.6% 0 - benign(0) tolerated(0.09) neutral(0.296) NULL KDM5A 5927 genome.wustl.edu 37 12 422312 422312 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001042603.1 -1 reviewed p.K982N 1.000 187 0% 287 32.1% 3 33.3% benign(0.024) tolerated(0.19) neutral(0.051) HMMPfam_PLU-1 KDM5A 5927 genome.wustl.edu 37 12 431664 431664 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001042603.1 -1 reviewed p.R782Q 1.000 106 0% 150 29.3% 7 14.2% benign(0.133) tolerated(1) neutral(0.011) HMMPfam_PLU-1 KDM5A 5927 genome.wustl.edu 37 12 493224 493224 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001042603.1 -1 reviewed p.K113N 1.000 155 0% 249 35.7% 1 100% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_ARID,HMMSmart_SM00501,superfamily_ARID-like B4GALNT3 283358 genome.wustl.edu 37 12 657444 657444 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173593.3 +1 validated p.L278 0.001 146 0% 244 29.5% 31 51.6% - - - NULL B4GALNT3 283358 genome.wustl.edu 37 12 662507 662507 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173593.3 +1 validated p.R473Q 0.553 24 0% 51 35.3% 19 42.1% probably_damaging(1) deleterious(0) deleterious(0.945) NULL B4GALNT3 283358 genome.wustl.edu 37 12 666859 666859 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173593.3 +1 validated p.I822 1.000 46 2.2% 103 25.2% 30 33.3% - - - superfamily_Nucleotide-diphospho-sugar transferases WNK1 65125 genome.wustl.edu 37 12 922977 922977 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018979.3 +1 reviewed p.K310R 1.000 168 0% 271 31.7% 4 0% probably_damaging(0.999) tolerated(0.08) deleterious(0.790) superfamily_Kinase_like,HMMPfam_Pkinase WNK1 65125 genome.wustl.edu 37 12 989900 989900 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018979.3 +1 reviewed p.R949Q 1.000 75 0% 163 38.7% 6 16.6% unknown(0) tolerated(0.28) - NULL WNK1 65125 genome.wustl.edu 37 12 994397 994397 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018979.3 +1 reviewed p.S1476Y 0.976 89 0% 87 34.5% 14 35.7% unknown(0) deleterious(0.03) - NULL WNK1 65125 genome.wustl.edu 37 12 994538 994538 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018979.3 +1 reviewed p.V1523A 1.000 72 0% 107 42.1% 20 55% unknown(0) tolerated(0.16) - NULL WNK1 65125 genome.wustl.edu 37 12 1005274 1005274 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018979.3 +1 reviewed p.K1874R 0.777 146 0% 169 29.6% 16 62.5% unknown(0) tolerated(0.11) - NULL WNT5B 81029 genome.wustl.edu 37 12 1748903 1748903 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030775.2 +1 reviewed p.A128T 1.000 16 0% 25 36% 1 0% benign(0.17) tolerated(0.13) neutral(0.268) HMMPfam_wnt,HMMSmart_SM00097 CACNA2D4 93589 genome.wustl.edu 37 12 1919734 1919734 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_172364.4 -1 reviewed p.P878L 0.003 73 0% 102 32.4% 0 - benign(0) tolerated(0.25) neutral(0.037) NULL CACNA2D4 93589 genome.wustl.edu 37 12 1993438 1993438 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_172364.4 -1 reviewed p.R441H 0.789 141 0.7% 262 29.4% 0 - probably_damaging(0.987) deleterious(0.04) deleterious(0.785) HMMSmart_SM00327,superfamily_vWA-like CACNA1C 775 genome.wustl.edu 37 12 2224610 2224610 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_199460.2 +1 reviewed p.K90N 1.000 17 0% 12 58.3% 1 0% benign(0.304) deleterious(0.03) neutral(0.459) NULL CACNA1C 775 genome.wustl.edu 37 12 2692013 2692013 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_199460.2 +1 reviewed p.S710L 1.000 190 0% 297 39.4% 1 0% possibly_damaging(0.621) tolerated(0.2) neutral(0.266) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CACNA1C 775 genome.wustl.edu 37 12 2715777 2715777 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_199460.2 +1 reviewed p.G1073* 1.000 190 0% 267 33% 1 0% - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CACNA1C 775 genome.wustl.edu 37 12 2717753 2717753 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_199460.2 +1 reviewed p.F1165V 1.000 365 0.3% 522 28.5% 0 - probably_damaging(0.978) deleterious(0) deleterious(0.865) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels LOC100288472 100288472 genome.wustl.edu 37 12 2896136 2896136 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002343142.1 -1 model p.E129 1.000 37 0% 39 23.1% 0 - - - - HMMPfam_Chromo_shadow,superfamily_Chromo domain-like,HMMSmart_SM00300 PARP11 57097 genome.wustl.edu 37 12 3931047 3931047 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020367.4 -1 validated p.F180L 1.000 151 0% 158 27.2% 2 50% possibly_damaging(0.535) tolerated(0.38) neutral(0.199) HMMPfam_PARP,superfamily_ADP-ribosylation ENSG00000118976 0 genome.wustl.edu 37 12 3949254 3949254 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000237841 +1 known p.I263L 0.998 239 0% 297 30.3% 0 - - - - NULL ENSG00000118976 0 genome.wustl.edu 37 12 3949670 3949670 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000237841 +1 known p.Q401H 0.979 291 0% 542 32.8% 0 - - - - NULL C12orf4 57102 genome.wustl.edu 37 12 4626310 4626310 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020374.2 -1 predicted p.R360Q 0.030 192 0% 206 20.4% 2 0% benign(0.003) tolerated(0.71) neutral(0.002) HMMPfam_DUF2362 C12orf4 57102 genome.wustl.edu 37 12 4627253 4627253 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020374.2 -1 predicted p.R335Q 1.000 175 0% 178 29.8% 1 0% probably_damaging(0.999) tolerated(0.06) deleterious(0.813) HMMPfam_DUF2362 C12orf4 57102 genome.wustl.edu 37 12 4627349 4627349 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020374.2 -1 predicted p.R303I 1.000 144 0% 207 33.3% 3 66.6% possibly_damaging(0.918) tolerated(0.39) neutral(0.385) HMMPfam_DUF2362 DYRK4 8798 genome.wustl.edu 37 12 4705881 4705881 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003845.1 +1 provisional p.T182 1.000 355 0% 476 34.9% 0 - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase AKAP3 10566 genome.wustl.edu 37 12 4736269 4736269 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006422.2 -1 reviewed p.N600S 1.000 49 0% 63 17.5% 0 - possibly_damaging(0.896) tolerated(0.1) deleterious(0.640) HMMPfam_AKAP_110,HMMSmart_SM00807 GALNT8 26290 genome.wustl.edu 37 12 4854616 4854616 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017417.1 +1 reviewed p.R294 0.855 130 0% 162 34% 0 - - - - HMMPfam_Glycos_transf_2,superfamily_SSF53448 KCNA6 3742 genome.wustl.edu 37 12 4919885 4919885 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002235.3 +1 reviewed p.E226D 0.392 82 0% 139 20.9% 0 - benign(0.008) tolerated(0.78) neutral(0.001) superfamily_SSF81324 KCNA1 3736 genome.wustl.edu 37 12 5021267 5021267 + Silent SNP C C T rs147731985 TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000217.2 +1 reviewed p.F241 1.000 49 0% 103 27.2% 0 - - - - HMMPfam_Ion_trans,superfamily_SSF81324 LOC390282 390282 genome.wustl.edu 37 12 5141820 5141820 + Silent SNP G G A rs191378000 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_372447.5 -1 model p.F92 0.999 52 0% 86 51.2% 0 - - - - NULL LOC390282 390282 genome.wustl.edu 37 12 5141828 5141828 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_372447.5 -1 model p.D90N 0.994 46 0% 82 25.6% 0 - - - - NULL ANO2 57101 genome.wustl.edu 37 12 5685037 5685037 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020373.2 -1 validated p.E862* 0.815 159 0% 209 36.4% 0 - - - - HMMPfam_DUF590 ANO2 57101 genome.wustl.edu 37 12 5708795 5708795 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020373.2 -1 validated p.P696 1.000 212 0% 202 27.2% 0 - - - - HMMPfam_DUF590 ANO2 57101 genome.wustl.edu 37 12 6031939 6031939 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020373.2 -1 validated p.R14 1.000 45 2.2% 85 37.6% 0 - - - - NULL VWF 7450 genome.wustl.edu 37 12 6135142 6135142 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000552.3 -1 reviewed p.Q1013R 1.000 191 0% 248 34.7% 18 0% probably_damaging(0.983) deleterious(0.04) deleterious(0.778) HMMPfam_VWD VWF 7450 genome.wustl.edu 37 12 6138654 6138654 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000552.3 -1 reviewed p.V941L 1.000 92 0% 123 43.9% 10 0% possibly_damaging(0.902) deleterious(0.02) deleterious(0.740) HMMPfam_VWD,HMMSmart_SM00216 PLEKHG6 55200 genome.wustl.edu 37 12 6425463 6425463 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001144856.1 +1 validated p.R217* 0.983 100 0% 140 22.1% 2 50% - - - HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) TNFRSF1A 7132 genome.wustl.edu 37 12 6443013 6443013 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001065.2 -1 reviewed p.D71G 0.961 126 0% 170 13.5% 49 8.1% probably_damaging(0.999) tolerated(0.05) deleterious(0.836) HMMPfam_TNFR_c6,HMMSmart_SM00208,PatternScan_TNFR_NGFR_1,superfamily_TNF receptor-like LOC678655 678655 genome.wustl.edu 37 12 6559871 6559871 + RNA SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NR_015382.1 -1 predicted NULL 0.272 69 0% 105 39% 0 - - - - - TAPBPL 55080 genome.wustl.edu 37 12 6570096 6570096 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018009.4 +1 validated p.R428K 0.892 124 0% 204 34.8% 11 0% possibly_damaging(0.653) tolerated(0.12) deleterious(0.490) NULL NCAPD2 9918 genome.wustl.edu 37 12 6619852 6619852 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014865.3 +1 validated p.G107E 0.000 122 0% 208 34.1% 11 45.4% benign(0.03) tolerated(0.6) neutral(0.006) NULL CHD4 1108 genome.wustl.edu 37 12 6701981 6701981 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001273.2 -1 reviewed p.F885L 1.000 94 0% 189 32.8% 31 29% probably_damaging(0.988) tolerated(0.44) neutral(0.450) HMMPfam_SNF2_N,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases LPAR5 57121 genome.wustl.edu 37 12 6729295 6729295 + Splice_Site SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000435659 -1 known e2-2 0.006 15 0% 37 35.1% 0 - - - - - ACRBP 84519 genome.wustl.edu 37 12 6753398 6753398 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032489.2 -1 reviewed p.E283D 0.999 137 0% 307 32.2% 0 - possibly_damaging(0.891) deleterious(0.05) deleterious(0.696) NULL COPS7A 50813 genome.wustl.edu 37 12 6838453 6838453 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016319.2 +1 validated p.R123H 0.620 162 0% 329 29.5% 58 25.8% benign(0.017) tolerated(0.08) neutral(0.300) HMMPfam_PCI,HMMSmart_SM00088 LEPREL2 10536 genome.wustl.edu 37 12 6943151 6943151 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000290510 +1 known p.R465W 0.997 161 0% 218 32.1% 13 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00702 LRRC23 10233 genome.wustl.edu 37 12 7019121 7019121 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001135217.1 +1 validated p.R230Q 1.000 110 0% 206 38.3% 20 55% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00365,superfamily_L domain-like LPCAT3 10162 genome.wustl.edu 37 12 7090169 7090169 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005768.5 -1 validated p.N225S 1.000 91 0% 186 30.1% 116 44.8% benign(0.004) tolerated(0.84) neutral(0.001) HMMPfam_MBOAT C1S 716 genome.wustl.edu 37 12 7173855 7173855 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001734.3 +1 reviewed p.S302Y 0.926 257 0% 402 21.6% 89 1.1% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module C1S 716 genome.wustl.edu 37 12 7174372 7174372 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001734.3 +1 reviewed p.S339 0.860 225 0% 365 36.2% 103 1.9% - - - HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module C1S 716 genome.wustl.edu 37 12 7177895 7177895 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001734.3 +1 reviewed p.K669N 0.884 46 0% 74 28.4% 211 0.4% benign(0.119) tolerated(0.35) neutral(0.030) HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys CLSTN3 9746 genome.wustl.edu 37 12 7288849 7288849 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014718.3 +1 validated p.L264V 0.779 136 0% 165 36.4% 44 43.1% possibly_damaging(0.854) tolerated(0.08) deleterious(0.629) NULL CD163 9332 genome.wustl.edu 37 12 7633660 7633660 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000432237 -1 known p.S1147Y 0.000 50 0% 23 26.1% 0 - - - - NULL APOBEC1 339 genome.wustl.edu 37 12 7805368 7805368 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001644.3 -1 reviewed p.A36 0.991 12 0% 27 59.3% 0 - unknown(0) - - HMMPfam_APOBEC_N APOBEC1 339 genome.wustl.edu 37 12 7805379 7805379 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001644.3 -1 reviewed p.R33C 0.145 12 0% 23 21.7% 0 - benign(0.001) tolerated(0.08) neutral(0.300) HMMPfam_APOBEC_N GDF3 9573 genome.wustl.edu 37 12 7848153 7848153 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020634.1 -1 reviewed p.R58C 0.019 68 0% 118 36.4% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL GDF3 9573 genome.wustl.edu 37 12 7848274 7848274 + Silent SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020634.1 -1 reviewed p.A17 0.001 44 0% 68 36.8% 0 - - - - NULL LOC360030 360030 genome.wustl.edu 37 12 7923088 7923088 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145465.1 +1 provisional p.K163N 0.000 74 0% 143 20.3% 0 - benign(0.002) deleterious(0) neutral(0.445) NULL SLC2A14 144195 genome.wustl.edu 37 12 7984288 7984288 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153449.2 -1 provisional p.N85H 0.000 110 0% 271 31.4% 0 - benign(0.041) tolerated(0.53) neutral(0.010) HMMPfam_Sugar_tr,superfamily_MFS general substrate transporter NANOGP1 404635 genome.wustl.edu 37 12 8048239 8048239 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000316043 +1 known p.Q49H 0.954 24 0% 74 40.5% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like SLC2A3 6515 genome.wustl.edu 37 12 8083102 8083102 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006931.2 -1 validated p.R216I 0.990 149 0% 267 31.1% 13 0% benign(0.148) deleterious(0.01) neutral(0.419) HMMPfam_Sugar_tr,superfamily_MFS general substrate transporter CLEC4D 338339 genome.wustl.edu 37 12 8667865 8667865 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_080387.4 +1 reviewed p.S21L 0.138 327 0.3% 513 34.5% 0 - benign(0) tolerated(0.19) neutral(0.050) NULL MFAP5 8076 genome.wustl.edu 37 12 8800752 8800752 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003480.2 -1 reviewed p.R153C 0.898 153 0% 257 32.7% 30 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL A2ML1 144568 genome.wustl.edu 37 12 8976426 8976426 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144670.3 +1 validated p.G119 0.043 93 0% 184 34.2% 1 0% - - - HMMPfam_A2M_N A2ML1 144568 genome.wustl.edu 37 12 8988858 8988858 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144670.3 +1 validated p.P217 0.992 334 0% 669 30.5% 0 - - - - HMMPfam_A2M_N A2ML1 144568 genome.wustl.edu 37 12 9006811 9006811 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144670.3 +1 validated p.R893Q 0.000 107 0% 212 32.5% 0 - benign(0.001) tolerated(0.12) neutral(0.261) NULL A2ML1 144568 genome.wustl.edu 37 12 9008104 9008104 + Splice_Site SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144670.3 +1 validated e23-1 0.998 117 0% 218 29.8% 0 - - - - - A2ML1 144568 genome.wustl.edu 37 12 9013766 9013766 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144670.3 +1 validated p.K1125N 0.002 171 0% 285 29.1% 0 - benign(0.13) tolerated(0.08) neutral(0.311) superfamily_Terpenoid cyclases/Protein prenyltransferases,HMMPfam_A2M_comp PHC1 1911 genome.wustl.edu 37 12 9085340 9085340 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004426.2 +1 reviewed p.Q429 0.986 361 0.6% 518 21.4% 7 0% - - - NULL A2M 2 genome.wustl.edu 37 12 9223111 9223111 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000014.4 -1 reviewed p.F1389 1.000 129 0% 187 39.6% 1031 0% - - - HMMPfam_A2M_recep,superfamily_Alpha-macroglobulin receptor domain A2M 2 genome.wustl.edu 37 12 9227195 9227195 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000014.4 -1 reviewed p.T1239 0.060 183 0% 227 33% 441 0% - - - superfamily_Terpenoid cyclases/Protein prenyltransferases,HMMPfam_A2M_comp A2M 2 genome.wustl.edu 37 12 9265016 9265016 + Silent SNP G G T rs56202499 byCluster;byFrequency;by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000014.4 -1 reviewed p.V129 0.931 211 0% 206 22.8% 70 0% - - - HMMPfam_A2M_N A2M 2 genome.wustl.edu 37 12 9268409 9268409 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000014.4 -1 reviewed p.L13I 0.489 153 0% 154 31.2% 63 0% probably_damaging(0.955) tolerated(0.34) neutral(0.422) PatternScan_TONB_DEPENDENT_REC_1 PZP 5858 genome.wustl.edu 37 12 9322180 9322180 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002864.2 -1 validated p.N616T 0.129 94 0% 177 27.7% 0 - probably_damaging(0.997) deleterious(0.02) deleterious(0.849) NULL KLRF1 51348 genome.wustl.edu 37 12 9985996 9985996 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016523.1 +1 provisional p.R94S 0.077 177 0% 173 35.3% 0 - possibly_damaging(0.83) deleterious(0) deleterious(0.760) NULL CLEC2B 9976 genome.wustl.edu 37 12 10010218 10010218 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005127.2 -1 reviewed p.S31Y 0.000 121 0% 79 38% 15 0% benign(0.312) deleterious(0.02) deleterious(0.481) superfamily_C-type lectin-like CLEC12A 160364 genome.wustl.edu 37 12 10132004 10132004 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138337.5 +1 reviewed p.R87I 0.022 138 0% 79 30.4% 0 - probably_damaging(0.996) tolerated(0.07) deleterious(0.780) NULL CLEC7A 64581 genome.wustl.edu 37 12 10279257 10279257 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_197947.2 -1 reviewed p.L85I 0.000 325 0% 404 35.1% 1 0% unknown(0) - - NULL CLEC7A 64581 genome.wustl.edu 37 12 10280284 10280284 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000422474 -1 known p.R88 0.000 73 0% 149 28.2% 0 - - - - NULL C12orf59 120939 genome.wustl.edu 37 12 10342608 10342608 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153022.2 +1 validated p.A121T 1.000 63 0% 170 31.8% 0 - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL KLRC2 3822 genome.wustl.edu 37 12 10588453 10588453 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002260.3 -1 reviewed p.L45I 0.032 390 0.3% 369 44.7% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL KLRC1 3821 genome.wustl.edu 37 12 10603610 10603610 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002259.4 -1 reviewed p.S49Y 0.003 415 0.2% 641 35.3% 0 - possibly_damaging(0.949) deleterious(0) deleterious(0.838) NULL ENSG00000180574 0 genome.wustl.edu 37 12 10658907 10658907 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000322446 +1 known p.P136T 1.000 298 0% 443 29.6% 14 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GTP_EFTU,superfamily_P-loop containing nucleoside triphosphate hydrolases TAS2R7 50837 genome.wustl.edu 37 12 10954379 10954379 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_023919.2 -1 reviewed p.E264G 0.758 219 0% 197 33% 0 - possibly_damaging(0.758) deleterious(0.01) deleterious(0.686) HMMPfam_TAS2R,superfamily_SSF81321 TAS2R8 50836 genome.wustl.edu 37 12 10959364 10959364 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_023918.1 -1 reviewed p.N72 0.001 207 0% 158 32.9% 0 - - - - HMMPfam_TAS2R,superfamily_SSF81321 TAS2R10 50839 genome.wustl.edu 37 12 10978034 10978034 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_023921.1 -1 reviewed p.L279I 0.992 166 0% 131 26% 1 100% probably_damaging(0.998) tolerated(0.11) deleterious(0.746) HMMPfam_TAS2R,superfamily_Family A G protein-coupled receptor-like TAS2R10 50839 genome.wustl.edu 37 12 10978514 10978514 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_023921.1 -1 reviewed p.L119I 0.998 92 0% 37 29.7% 0 - probably_damaging(0.992) deleterious(0.05) deleterious(0.793) HMMPfam_TAS2R,superfamily_Family A G protein-coupled receptor-like PRH1 5554 genome.wustl.edu 37 12 11034971 11034971 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006250.2 -1 provisional p.R122* 0.000 362 0% 505 18.6% 1 0% - - - NULL TAS2R14 50840 genome.wustl.edu 37 12 11091457 11091457 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_023922.1 -1 reviewed p.S117Y 0.000 78 0% 60 25% 0 - benign(0.418) tolerated(0.65) neutral(0.139) HMMPfam_TAS2R,superfamily_SSF81321 TAS2R14 50840 genome.wustl.edu 37 12 11091679 11091679 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_023922.1 -1 reviewed p.S43L 0.000 101 0% 103 30.1% 0 - benign(0) tolerated(0.16) neutral(0.059) HMMPfam_TAS2R,superfamily_SSF81321 TAS2R20 259295 genome.wustl.edu 37 12 11149894 11149894 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_176889.2 -1 validated p.S194Y 0.004 300 0% 273 31.1% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_TAS2R,superfamily_SSF81321 TAS2R46 259292 genome.wustl.edu 37 12 11214444 11214444 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_176887.2 -1 validated p.N150 0.001 309 0% 299 27.8% 0 - - - - HMMPfam_TAS2R,superfamily_SSF81321 TAS2R43 259289 genome.wustl.edu 37 12 11244768 11244768 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_176884.2 -1 provisional p.N21H 0.224 7 0.000 13 0.462 0 - probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_TAS2R,superfamily_Family A G protein-coupled receptor-like PRB2 653247 genome.wustl.edu 37 12 11546213 11546213 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006248.3 -1 validated p.P267S 0.801 314 0% 592 18.8% 0 - unknown(0) tolerated(0.79) - NULL PRB2 653247 genome.wustl.edu 37 12 11546500 11546500 + Missense_Mutation SNP C C T rs192416830 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006248.3 -1 validated p.R171Q 0.069 291 0.3% 537 37.6% 0 - unknown(0) tolerated(0.62) - NULL LRP6 4040 genome.wustl.edu 37 12 12283824 12283824 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002336.2 -1 reviewed p.L1325R 0.996 73 0% 90 41.1% 3 0% benign(0.001) tolerated(0.09) neutral(0.296) HMMPfam_Ldl_recept_a,HMMSmart_SM00192,superfamily_LDL receptor-like module LRP6 4040 genome.wustl.edu 37 12 12334356 12334356 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002336.2 -1 reviewed p.L332I 1.000 48 0% 94 43.6% 1 0% probably_damaging(0.987) tolerated(0.16) deleterious(0.496) superfamily_EGF/Laminin,superfamily_YWTD domain LRP6 4040 genome.wustl.edu 37 12 12334365 12334365 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002336.2 -1 reviewed p.E329* 1.000 41 0% 83 34.9% 1 100% - - - superfamily_EGF/Laminin,superfamily_YWTD domain KIAA1467 57613 genome.wustl.edu 37 12 13221338 13221338 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020853.1 +1 validated p.N415H 0.985 125 0% 144 34.7% 3 66.6% possibly_damaging(0.843) deleterious(0.02) deleterious(0.706) NULL GSG1 83445 genome.wustl.edu 37 12 13256440 13256440 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080555.1 -1 validated p.D3Y 0.105 272 0% 456 33.1% 0 - possibly_damaging(0.92) - - NULL GRIN2B 2904 genome.wustl.edu 37 12 13906797 13906797 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000834.3 -1 reviewed p.S155Y 0.980 83 0% 100 38% 0 - probably_damaging(0.982) deleterious(0.04) deleterious(0.775) superfamily_SSF53822 ATF7IP 55729 genome.wustl.edu 37 12 14576892 14576892 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018179.3 +1 validated p.R15* 1.000 71 0% 116 31% 7 100% - - - NULL ATF7IP 55729 genome.wustl.edu 37 12 14578317 14578317 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018179.3 +1 validated p.E490* 1.000 48 0% 61 27.9% 8 0% - - - NULL ATF7IP 55729 genome.wustl.edu 37 12 14589067 14589067 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018179.3 +1 validated p.K558T 1.000 162 0% 300 27.7% 10 20% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL GUCY2C 2984 genome.wustl.edu 37 12 14840961 14840961 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004963.3 -1 validated p.S85L 0.021 102 0% 112 35.7% 0 - benign(0.183) tolerated(0.35) neutral(0.038) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I H2AFJ 55766 genome.wustl.edu 37 12 14927761 14927761 + Splice_Site SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000228929 +1 known e1+2 1.000 73 0% 106 26.4% 553 39.2% - - - - C12orf60 144608 genome.wustl.edu 37 12 14976123 14976123 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_175874.3 +1 validated p.S85F 0.016 161 0% 189 25.9% 2 50% possibly_damaging(0.745) deleterious(0.01) deleterious(0.679) NULL C12orf60 144608 genome.wustl.edu 37 12 14976265 14976265 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_175874.3 +1 validated p.I132 0.022 176 0% 195 28.2% 5 40% - - - NULL PTPRO 5800 genome.wustl.edu 37 12 15656964 15656964 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030667.1 +1 reviewed p.R410* 1.000 131 0% 114 22.8% 1 0% - - - NULL PTPRO 5800 genome.wustl.edu 37 12 15699583 15699583 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030667.1 +1 reviewed p.A749S 1.000 337 0% 291 25.1% 0 - benign(0.167) deleterious(0.01) neutral(0.421) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III PTPRO 5800 genome.wustl.edu 37 12 15747947 15747947 + Missense_Mutation SNP T T A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030667.1 +1 reviewed p.V1208D 1.000 193 0% 232 31.5% 2 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL EPS8 2059 genome.wustl.edu 37 12 15774354 15774354 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004447.5 -1 reviewed p.G789V 0.999 200 0% 128 33.6% 10 30% probably_damaging(1) deleterious(0.05) deleterious(0.845) NULL EPS8 2059 genome.wustl.edu 37 12 15818732 15818732 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004447.5 -1 reviewed p.R232* 1.000 37 0% 47 48.9% 5 0% - - - NULL SLC15A5 729025 genome.wustl.edu 37 12 16392736 16392736 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000344941 -1 known p.P347 0.238 139 0% 209 31.1% 0 - - - - HMMPfam_PTR2 PLCZ1 89869 genome.wustl.edu 37 12 18837079 18837079 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033123.2 -1 provisional p.L576I 0.856 196 0% 118 42.4% 0 - possibly_damaging(0.872) deleterious(0.04) deleterious(0.688) HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) PLCZ1 89869 genome.wustl.edu 37 12 18841027 18841027 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033123.2 -1 provisional p.K529N 0.976 230 0% 132 32.6% 0 - benign(0) tolerated(1) - HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) PLCZ1 89869 genome.wustl.edu 37 12 18854538 18854538 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000447925 -1 known p.K87T 0.001 401 0% 321 37.7% 0 - unknown(0) tolerated(0.57) - superfamily_PLC-like_Pdiesterase_TIM-brl PLEKHA5 54477 genome.wustl.edu 37 12 19427589 19427589 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019012.3 +1 validated p.E323* 1.000 171 0% 348 32.5% 15 20% - - - NULL ENSG00000248116 0 genome.wustl.edu 37 12 19459843 19459843 + RNA SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000510738 +1 novel NULL 1.000 151 0% 270 24.4% 2 50% - - - - ENSG00000248116 0 genome.wustl.edu 37 12 19460751 19460751 + RNA SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000510738 +1 novel NULL 0.991 48 0% 110 23.6% 8 50% - - - - PDE3A 5139 genome.wustl.edu 37 12 20803484 20803484 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000921.3 +1 validated p.E959* 1.000 260 0% 353 28.9% 4 25% - - - HMMPfam_PDEase_I,HMMSmart_HDc,superfamily_SSF109604 SLCO1C1 53919 genome.wustl.edu 37 12 20896300 20896300 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017435.4 +1 reviewed p.L599I 1.000 442 0% 518 35.5% 0 - probably_damaging(0.97) deleterious(0.01) deleterious(0.818) HMMPfam_OATP,superfamily_MFS_gen_substrate_transporter SLCO1C1 53919 genome.wustl.edu 37 12 20905318 20905318 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000381552 +1 known p.E700* 1.000 104 0% 114 27.2% 0 - - - - NULL SLCO1B3 28234 genome.wustl.edu 37 12 21008099 21008099 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019844.2 +1 validated p.E74D 1.000 263 0% 221 29% 2 100% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_OATP,superfamily_MFS_gen_substrate_transporter SLCO1B3 28234 genome.wustl.edu 37 12 21032374 21032374 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019844.2 +1 validated p.I380 0.000 106 0% 121 21.5% 1 0% - - - HMMPfam_OATP,superfamily_MFS_gen_substrate_transporter SLCO1B3 28234 genome.wustl.edu 37 12 21036398 21036398 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019844.2 +1 validated p.R515I 0.000 301 0% 270 33.7% 1 0% benign(0.064) tolerated(0.12) neutral(0.265) HMMPfam_OATP,superfamily_MFS_gen_substrate_transporter LST-3TM12 338821 genome.wustl.edu 37 12 21205079 21205079 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001009562.4 +1 validated p.S414A 1.000 283 0% 154 26% 0 - probably_damaging(1) tolerated(0.24) deleterious(0.537) HMMPfam_OATP,superfamily_MFS general substrate transporter,superfamily_Kazal-type serine protease inhibitors LST-3TM12 338821 genome.wustl.edu 37 12 21205160 21205160 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001009562.4 +1 validated p.G441* 1.000 276 0% 130 28.5% 0 - - - - HMMPfam_OATP,HMMPfam_Kazal_2,superfamily_MFS general substrate transporter,superfamily_Kazal-type serine protease inhibitors SLCO1B1 10599 genome.wustl.edu 37 12 21370150 21370150 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006446.4 +1 reviewed p.R532M 0.010 270 0% 343 35.6% 0 - benign(0.398) tolerated(0.16) neutral(0.188) HMMPfam_OATP,superfamily_MFS general substrate transporter SLCO1B1 10599 genome.wustl.edu 37 12 21391945 21391945 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006446.4 +1 reviewed p.R633I 0.008 66 0% 51 45.1% 0 - benign(0.004) tolerated(0.07) neutral(0.319) superfamily_MFS general substrate transporter SLCO1A2 6579 genome.wustl.edu 37 12 21457469 21457469 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021094.3 -1 reviewed p.V161I 1.000 109 0% 94 21.3% 0 - possibly_damaging(0.935) tolerated(0.06) deleterious(0.703) HMMPfam_OATP,superfamily_MFS general substrate transporter SLCO1A2 6579 genome.wustl.edu 37 12 21467607 21467607 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021094.3 -1 reviewed p.L71 1.000 145 0% 148 40.5% 0 - - - - HMMPfam_OATP,superfamily_MFS general substrate transporter RECQL 5965 genome.wustl.edu 37 12 21636315 21636315 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002907.3 -1 reviewed p.R232I 1.000 185 0% 195 29.2% 14 28.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases GOLT1B 51026 genome.wustl.edu 37 12 21661320 21661320 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016072.4 +1 validated p.L41V 0.998 620 0% 601 31.6% 17 47% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Got1 KCNJ8 3764 genome.wustl.edu 37 12 21918742 21918742 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004982.2 -1 reviewed p.S397Y 1.000 277 0% 362 32.6% 3 0% benign(0.282) deleterious(0.05) neutral(0.432) NULL ABCC9 10060 genome.wustl.edu 37 12 21958235 21958235 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005691.2 -1 reviewed p.S1508Y 1.000 197 0% 292 33.9% 0 - benign(0.352) deleterious(0.01) deleterious(0.517) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCC9 10060 genome.wustl.edu 37 12 22017400 22017400 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005691.2 -1 reviewed p.S737F 1.000 111 0% 81 39.5% 0 - benign(0.147) deleterious(0.02) neutral(0.396) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases KIAA0528 9847 genome.wustl.edu 37 12 22635534 22635534 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014802.1 -1 predicted p.R565I 1.000 364 0% 334 31.4% 4 50% probably_damaging(0.976) deleterious(0) deleterious(0.863) NULL KIAA0528 9847 genome.wustl.edu 37 12 22635662 22635662 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014802.1 -1 predicted p.K522N 1.000 316 0% 304 38.5% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL SOX5 6660 genome.wustl.edu 37 12 23687402 23687402 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006940.4 -1 reviewed p.I681 0.993 150 0.7% 244 33.6% 1 100% - - - NULL SOX5 6660 genome.wustl.edu 37 12 23716202 23716202 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006940.4 -1 reviewed p.R493Q 1.000 319 0% 264 30.7% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL LRMP 4033 genome.wustl.edu 37 12 25236394 25236394 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006152.2 +1 reviewed p.D94E 0.002 187 0% 311 30.2% 0 - benign(0.005) tolerated(0.12) neutral(0.261) HMMPfam_MRVI1 LRMP 4033 genome.wustl.edu 37 12 25243000 25243000 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006152.2 +1 reviewed p.L159I 1.000 247 0% 301 34.9% 2 0% probably_damaging(0.996) tolerated(0.22) deleterious(0.504) HMMPfam_MRVI1 CASC1 55259 genome.wustl.edu 37 12 25307359 25307359 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018272.3 -1 validated p.P111H 0.994 236 0% 394 31.2% 1 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CASC1 55259 genome.wustl.edu 37 12 25308316 25308316 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018272.3 -1 validated p.E77* 0.983 271 0% 292 30.1% 0 - - - - NULL CASC1 55259 genome.wustl.edu 37 12 25311443 25311443 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018272.3 -1 validated p.R54Q 0.005 309 0% 453 31.1% 1 0% possibly_damaging(0.867) deleterious(0) deleterious(0.781) NULL IFLTD1 160492 genome.wustl.edu 37 12 25679755 25679755 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145728.1 -1 validated p.S209Y 0.006 227 0% 289 35.3% 0 - possibly_damaging(0.907) deleterious(0.01) deleterious(0.766) HMMPfam_IF_tail,superfamily_Lamin A/C globular tail domain RASSF8 11228 genome.wustl.edu 37 12 26217610 26217610 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007211.4 +1 validated p.R95* 1.000 72 0% 76 35.5% 0 - - - - NULL ITPR2 3709 genome.wustl.edu 37 12 26629876 26629876 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002223.2 -1 validated p.R2063I 1.000 303 0% 333 30.9% 0 - probably_damaging(0.98) deleterious(0) deleterious(0.869) NULL ITPR2 3709 genome.wustl.edu 37 12 26709168 26709168 + Silent SNP C C T rs191789657 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002223.2 -1 validated p.S1654 0.918 117 0% 165 37% 0 - - - - NULL ITPR2 3709 genome.wustl.edu 37 12 26875445 26875445 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002223.2 -1 validated p.R137I 1.000 263 0.4% 191 41.4% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_MIR domain (Pfam 02815),HMMPfam_Ins145_P3_rec,HMMSmart_SM00472 TM7SF3 51768 genome.wustl.edu 37 12 27132787 27132787 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016551.2 -1 validated p.S373 0.001 180 0% 313 31.9% 36 25% - - - NULL C12orf71 728858 genome.wustl.edu 37 12 27235122 27235122 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080406.1 -1 inferred p.D99N 0.000 138 0% 218 31.7% 0 - benign(0.001) tolerated(1) - NULL C12orf70 341346 genome.wustl.edu 37 12 27628648 27628648 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145010.1 +1 validated p.E166* 0.992 56 0% 60 30% 0 - - - - NULL C12orf70 341346 genome.wustl.edu 37 12 27648767 27648767 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145010.1 +1 validated p.S271F 0.015 64 0% 90 42.2% 0 - possibly_damaging(0.449) deleterious(0.01) deleterious(0.552) NULL PPFIBP1 8496 genome.wustl.edu 37 12 27813822 27813822 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003622.2 +1 reviewed p.E284K 1.000 164 0% 254 30.7% 3 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL REP15 387849 genome.wustl.edu 37 12 27849971 27849971 + Missense_Mutation SNP G G C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001029874.1 +1 provisional p.C159S 1.000 53 0% 108 36.1% 0 - probably_damaging(0.958) deleterious(0) deleterious(0.846) NULL MRPS35 60488 genome.wustl.edu 37 12 27908273 27908273 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021821.2 +1 reviewed p.E288* 1.000 80 0% 78 33.3% 28 57.1% - - - NULL CCDC91 55297 genome.wustl.edu 37 12 28605449 28605449 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018318.3 +1 validated p.V321 0.020 83 0% 45 26.7% 8 37.5% - - - NULL ENSG00000245593 0 genome.wustl.edu 37 12 29446020 29446020 + RNA SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000500230 -1 known NULL 0.007 27 0% 22 22.7% 0 - - - - - FAR2 55711 genome.wustl.edu 37 12 29446285 29446285 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018099.3 +1 provisional p.A81D 0.155 231 0% 307 27.7% 0 - possibly_damaging(0.78) deleterious(0.01) deleterious(0.697) HMMPfam_NAD_binding_4,superfamily_NAD(P)-bd FAR2 55711 genome.wustl.edu 37 12 29474808 29474808 + Missense_Mutation SNP C C T rs184375580 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018099.3 +1 provisional p.T403M 0.989 158 0% 247 32.8% 0 - probably_damaging(0.987) deleterious(0.01) deleterious(0.842) HMMPfam_Sterile OVCH1 341350 genome.wustl.edu 37 12 29592331 29592331 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_183378.2 -1 validated p.K1065T 0.005 335 0% 307 30.6% 0 - benign(0.001) deleterious(0) neutral(0.445) NULL OVCH1 341350 genome.wustl.edu 37 12 29625985 29625985 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_183378.2 -1 validated p.S551Y 0.000 303 0% 300 24.3% 0 - probably_damaging(0.959) tolerated(0.07) deleterious(0.722) NULL OVCH1 341350 genome.wustl.edu 37 12 29640808 29640808 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_183378.2 -1 validated p.S237Y 0.996 126 0% 215 35.8% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases,PatternScan_TRYPSIN_SER TMTC1 83857 genome.wustl.edu 37 12 29736401 29736401 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_175861.2 -1 provisional p.L345F 1.000 105 0% 138 29.7% 1 0% benign(0.059) tolerated(0.19) neutral(0.054) NULL TMTC1 83857 genome.wustl.edu 37 12 29757194 29757194 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_175861.2 -1 provisional p.F281 1.000 139 0% 199 24.6% 2 50% - - - NULL IPO8 10526 genome.wustl.edu 37 12 30792530 30792530 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006390.2 -1 reviewed p.R803Q 0.787 169 0% 273 28.2% 12 66.6% benign(0.001) tolerated(0.24) neutral(0.037) superfamily_ARM-type_fold IPO8 10526 genome.wustl.edu 37 12 30805937 30805937 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006390.2 -1 reviewed p.E680* 1.000 108 0% 88 33% 8 12.5% - - - superfamily_ARM-type_fold OVOS2 144203 genome.wustl.edu 37 12 31269982 31269982 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002343151.1 -1 model p.F1296C 0.961 394 0% 660 22.9% 7 0% - - - NULL OVOS2 144203 genome.wustl.edu 37 12 31302339 31302339 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002343151.1 -1 model p.K318N 0.000 270 0% 307 18.9% 0 - - - - NULL OVOS2 144203 genome.wustl.edu 37 12 31303138 31303138 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002343151.1 -1 model p.V301 0.000 258 0% 379 19.8% 0 - - - - NULL DENND5B 160518 genome.wustl.edu 37 12 31605376 31605376 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144973.3 -1 validated p.F376C 0.962 79 0% 124 31.5% 2 50% benign(0.002) tolerated(0.19) neutral(0.050) NULL DENND5B 160518 genome.wustl.edu 37 12 31613208 31613208 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144973.3 -1 validated p.L338I 1.000 156 0% 269 34.6% 0 - probably_damaging(0.984) deleterious(0.02) deleterious(0.814) HMMPfam_DENN,HMMSmart_SM00799 METTL20 254013 genome.wustl.edu 37 12 31820767 31820767 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001135863.1 +1 validated p.R211I 0.444 146 0% 313 30.7% 0 - benign(0.072) deleterious(0.01) neutral(0.411) HMMPfam_Methyltransf_16 H3F3C 440093 genome.wustl.edu 37 12 31944947 31944947 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001013699.2 -1 validated p.R52C 1.000 66 0% 114 35.1% 126 0.7% probably_damaging(1) - - HMMSmart_H3,superfamily_Histone-fold BICD1 636 genome.wustl.edu 37 12 32369267 32369267 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001714.2 +1 reviewed p.S100 0.000 116 0% 211 36% 2 100% - - - HMMPfam_BicD BICD1 636 genome.wustl.edu 37 12 32480500 32480500 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001714.2 +1 reviewed p.L371F 1.000 61 0% 110 28.2% 3 33.3% probably_damaging(0.987) deleterious(0) deleterious(0.881) HMMPfam_BicD FGD4 121512 genome.wustl.edu 37 12 32764182 32764182 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_139241.2 +1 reviewed p.R435W 1.000 103 0% 159 44.7% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like DNM1L 10059 genome.wustl.edu 37 12 32884297 32884297 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012062.3 +1 reviewed p.R403H 1.000 135 0% 196 28.1% 34 55.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Dynamin_M PKP2 5318 genome.wustl.edu 37 12 32994089 32994089 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004572.3 -1 reviewed p.T521A 1.000 143 0% 240 40% 7 42.8% benign(0.106) tolerated(0.27) neutral(0.042) superfamily_ARM repeat ENSG00000245482 0 genome.wustl.edu 37 12 34175278 34175278 + RNA SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000501954 -1 known NULL 0.003 6 0.000 7 0.714 0 - - - - - ALG10 84920 genome.wustl.edu 37 12 34178864 34178864 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032834.3 +1 reviewed p.F146V 1.000 378 0% 422 41% 6 33.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_DIE2_ALG10 ALG10 84920 genome.wustl.edu 37 12 34179674 34179674 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032834.3 +1 reviewed p.R416C 1.000 430 0% 482 30.5% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DIE2_ALG10 KIF21A 55605 genome.wustl.edu 37 12 39734163 39734163 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017641.3 -1 validated p.S692L 1.000 251 0.4% 196 31.1% 9 33.3% probably_damaging(0.999) deleterious(0.05) deleterious(0.836) superfamily_WD40 repeat-like KIF21A 55605 genome.wustl.edu 37 12 39734778 39734778 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017641.3 -1 validated p.E667D 1.000 484 0% 346 29.5% 7 42.8% possibly_damaging(0.717) tolerated(0.2) neutral(0.308) superfamily_WD40 repeat-like KIF21A 55605 genome.wustl.edu 37 12 39761813 39761813 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017641.3 -1 validated p.D158Y 1.000 68 0% 54 25.9% 4 75% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases C12orf40 283461 genome.wustl.edu 37 12 40040169 40040169 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001031748.2 +1 validated p.D81Y 0.960 89 0% 52 28.8% 0 - possibly_damaging(0.8) - - NULL C12orf40 283461 genome.wustl.edu 37 12 40041697 40041697 + Missense_Mutation SNP G G A rs185655294 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001031748.2 +1 validated p.R163K 0.054 197 0% 118 24.6% 0 - possibly_damaging(0.792) - - NULL C12orf40 283461 genome.wustl.edu 37 12 40076860 40076860 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001031748.2 +1 validated p.Q378H 0.170 51 0% 42 33.3% 0 - probably_damaging(0.991) - - NULL C12orf40 283461 genome.wustl.edu 37 12 40077242 40077242 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001031748.2 +1 validated p.E414D 0.076 115 0% 99 26.3% 0 - benign(0.004) - - NULL C12orf40 283461 genome.wustl.edu 37 12 40114593 40114593 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001031748.2 +1 validated p.S500F 0.998 37 0% 15 40% 0 - probably_damaging(0.991) - - NULL SLC2A13 114134 genome.wustl.edu 37 12 40153884 40153884 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_052885.3 -1 validated p.R631W 1.000 284 0.4% 178 33.7% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL LRRK2 120892 genome.wustl.edu 37 12 40668462 40668462 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198578.3 +1 reviewed p.E578D 0.258 316 0% 256 20.7% 0 - possibly_damaging(0.815) tolerated(0.46) neutral(0.320) superfamily_ARM-type_fold LRRK2 120892 genome.wustl.edu 37 12 40697829 40697829 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198578.3 +1 reviewed p.E1224* 1.000 172 0% 149 30.9% 0 - - - - superfamily_SSF52058 LRRK2 120892 genome.wustl.edu 37 12 40722219 40722219 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198578.3 +1 reviewed p.V1905A 1.000 164 0% 110 31.8% 0 - probably_damaging(0.99) deleterious(0.01) deleterious(0.847) superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase LRRK2 120892 genome.wustl.edu 37 12 40749933 40749933 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198578.3 +1 reviewed p.L2263I 1.000 183 0% 164 29.9% 0 - benign(0.128) tolerated(0.1) neutral(0.297) HMMSmart_WD40,superfamily_WD40_like CNTN1 1272 genome.wustl.edu 37 12 41318406 41318406 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001843.2 +1 reviewed p.E150* 1.000 227 0% 204 31.9% 0 - - - - HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin CNTN1 1272 genome.wustl.edu 37 12 41331399 41331399 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001843.2 +1 reviewed p.D380Y 0.397 274 0.4% 247 24.3% 0 - possibly_damaging(0.565) deleterious(0.04) deleterious(0.542) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin CNTN1 1272 genome.wustl.edu 37 12 41387065 41387065 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001843.2 +1 reviewed p.G703S 1.000 104 0% 79 30.4% 0 - possibly_damaging(0.804) deleterious(0.04) deleterious(0.651) superfamily_Fibronectin type III PDZRN4 29951 genome.wustl.edu 37 12 41966766 41966766 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013377.3 +1 validated p.E471* 1.000 88 0% 82 34.1% 0 - - - - NULL GXYLT1 283464 genome.wustl.edu 37 12 42491806 42491806 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173601.1 -1 validated p.W298C 1.000 243 0% 288 33% 4 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glyco_transf_8,superfamily_Nucleotide-diphospho-sugar transferases YAF2 10138 genome.wustl.edu 37 12 42555484 42555484 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005748.3 -1 reviewed p.K79T 1.000 313 0% 344 33.7% 5 20% probably_damaging(0.978) tolerated(0.23) neutral(0.462) NULL PRICKLE1 144165 genome.wustl.edu 37 12 42854077 42854077 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001144881.1 -1 reviewed p.R677I 1.000 108 0% 139 30.2% 7 14.2% probably_damaging(0.989) deleterious(0) deleterious(0.884) NULL ADAMTS20 80070 genome.wustl.edu 37 12 43793026 43793026 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025003.3 -1 validated p.S1432Y 0.998 179 0% 165 26.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat ADAMTS20 80070 genome.wustl.edu 37 12 43833785 43833785 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025003.3 -1 validated p.R793I 0.876 223 0% 255 28.6% 0 - benign(0.068) tolerated(0.18) neutral(0.060) HMMPfam_ADAM_spacer1 ADAMTS20 80070 genome.wustl.edu 37 12 43896085 43896085 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025003.3 -1 validated p.R246I 0.996 385 0% 516 32.9% 0 - possibly_damaging(0.446) tolerated(0.08) neutral(0.446) NULL PUS7L 83448 genome.wustl.edu 37 12 44142271 44142271 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001098614.1 -1 validated p.R351I 1.000 193 0% 228 31.6% 1 100% probably_damaging(0.984) tolerated(0.08) deleterious(0.730) HMMPfam_TruD,superfamily_PsdUridine_synth_cat_dom TWF1 5756 genome.wustl.edu 37 12 44193302 44193302 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002822.3 -1 reviewed p.D162Y 1.000 192 0.5% 196 30.1% 11 45.4% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Cofilin_ADF,HMMSmart_SM00102,superfamily_Actin depolymerizing proteins TMEM117 84216 genome.wustl.edu 37 12 44770476 44770476 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032256.1 +1 provisional p.I289 1.000 150 0% 107 33.6% 3 0% - - - NULL TMEM117 84216 genome.wustl.edu 37 12 44782065 44782065 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032256.1 +1 provisional p.F385L 0.999 227 0% 167 35.3% 1 0% benign(0.139) deleterious(0.04) neutral(0.361) NULL ANO6 196527 genome.wustl.edu 37 12 45796969 45796969 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142679.1 +1 validated p.F576C 0.999 197 0% 215 33.5% 6 33.3% probably_damaging(0.968) deleterious(0) deleterious(0.855) NULL ARID2 196528 genome.wustl.edu 37 12 46125024 46125024 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152641.2 +1 validated p.E71* 1.000 250 0% 369 28.7% 0 - - - - HMMPfam_ARID,HMMSmart_SM00501,superfamily_ARID-like ARID2 196528 genome.wustl.edu 37 12 46230405 46230405 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152641.2 +1 validated p.R247S 1.000 185 0% 245 36.7% 0 - probably_damaging(0.991) tolerated(0.74) neutral(0.446) NULL ARID2 196528 genome.wustl.edu 37 12 46245958 46245958 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152641.2 +1 validated p.S1351I 0.987 100 0% 117 33.3% 4 0% benign(0) deleterious(0.01) neutral(0.406) NULL SCAF11 9169 genome.wustl.edu 37 12 46316294 46316294 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004719.2 -1 validated p.D1399 0.993 196 0% 233 32.2% 23 43.4% - - - NULL SCAF11 9169 genome.wustl.edu 37 12 46325330 46325330 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004719.2 -1 validated p.R267I 1.000 85 0% 100 33% 4 25% probably_damaging(0.979) deleterious(0) deleterious(0.867) NULL SLC38A1 81539 genome.wustl.edu 37 12 46633484 46633484 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001077484.1 -1 validated p.V34L 1.000 237 0% 342 33.6% 7 42.8% possibly_damaging(0.789) tolerated(0.72) neutral(0.297) NULL SLC38A2 54407 genome.wustl.edu 37 12 46754957 46754957 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018976.4 -1 validated p.M486I 1.000 103 0% 120 31.7% 27 33.3% probably_damaging(0.99) deleterious(0.05) deleterious(0.787) HMMPfam_Aa_trans SLC38A4 55089 genome.wustl.edu 37 12 47170709 47170709 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001143824.1 -1 validated p.L384 0.763 110 0% 64 21.9% 0 - - - - HMMPfam_Aa_trans AMIGO2 347902 genome.wustl.edu 37 12 47472178 47472178 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001143668.1 -1 validated p.R203Q 0.157 55 0% 86 33.7% 7 85.7% benign(0.268) tolerated(0.07) neutral(0.348) superfamily_SSF52058 LOC100288986 100288986 genome.wustl.edu 37 12 47628796 47628796 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002343197.1 -1 model p.C232 0.000 38 0% 65 38.5% 3 0% - - - NULL LOC100288986 100288986 genome.wustl.edu 37 12 47629014 47629014 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002343197.1 -1 model p.E160K 0.579 60 0% 79 30.4% 2 0% - - - NULL ENDOU 8909 genome.wustl.edu 37 12 48105543 48105543 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006025.3 -1 reviewed p.D289N 1.000 95 0% 143 33.6% 10 40% probably_damaging(0.999) tolerated(0.26) deleterious(0.524) NULL RAPGEF3 10411 genome.wustl.edu 37 12 48137390 48137390 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001098531.2 -1 validated p.R583I 0.718 94 0% 149 38.3% 13 38.4% possibly_damaging(0.819) tolerated(0.18) neutral(0.365) superfamily_Ras GEF SLC48A1 55652 genome.wustl.edu 37 12 48174518 48174518 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000390229 +1 known p.I170M 0.000 17 0% 32 34.4% 22 45.4% - - - NULL C12orf68 387856 genome.wustl.edu 37 12 48577967 48577967 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001013635.3 +1 validated p.E21G 1.000 20 0% 55 36.4% 3 0% benign(0.034) - - NULL C12orf68 387856 genome.wustl.edu 37 12 48578326 48578326 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001013635.3 +1 validated p.E141K 0.034 10 0.000 7 0.571 3 33.3% benign(0.007) - - NULL ZNF641 121274 genome.wustl.edu 37 12 48737362 48737362 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152320.2 -1 validated p.L237 0.343 78 0% 104 37.5% 2 0% - - - NULL LALBA 3906 genome.wustl.edu 37 12 48963707 48963707 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002289.2 -1 reviewed p.D33Y 0.015 101 0% 164 27.4% 0 - possibly_damaging(0.562) deleterious(0.01) deleterious(0.598) HMMPfam_Lys,HMMSmart_LYZ1,superfamily_SSF53955 LOC100288297 100288297 genome.wustl.edu 37 12 49075176 49075176 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002343165.1 +1 model p.L29F 1.000 277 0% 514 31.9% 19 31.5% - - - NULL DDX23 9416 genome.wustl.edu 37 12 49237729 49237729 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004818.2 -1 reviewed p.R105Q 1.000 285 0% 632 35.1% 74 39.1% unknown(0) - - NULL DDX23 9416 genome.wustl.edu 37 12 49239501 49239501 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004818.2 -1 reviewed p.R22Q 1.000 50 0% 125 31.2% 43 41.8% unknown(0) - - NULL RND1 27289 genome.wustl.edu 37 12 49255856 49255856 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014470.3 -1 validated p.S85L 1.000 165 0% 378 32.5% 2 0% possibly_damaging(0.811) deleterious(0) deleterious(0.750) HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases WNT10B 7480 genome.wustl.edu 37 12 49364107 49364107 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003394.2 -1 reviewed p.L34 0.999 38 0% 35 42.9% 0 - - - - NULL PRKAG1 5571 genome.wustl.edu 37 12 49397621 49397621 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002733.3 -1 reviewed p.R208C 1.000 66 0% 131 41.2% 47 42.5% possibly_damaging(0.552) tolerated(0.18) neutral(0.244) HMMPfam_CBS,HMMSmart_CBS,superfamily_SSF54631 MLL2 8085 genome.wustl.edu 37 12 49415645 49415645 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003482.3 -1 validated p.D5511A 1.000 84 0% 133 30.1% 46 23.9% unknown(0) - - HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain MLL2 8085 genome.wustl.edu 37 12 49420253 49420253 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003482.3 -1 validated p.A5166T 1.000 34 0% 71 40.8% 19 57.8% unknown(0) - - NULL MLL2 8085 genome.wustl.edu 37 12 49427369 49427369 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003482.3 -1 validated p.R3707* 1.000 25 0% 35 40% 7 57.1% - - - NULL TUBA1C 84790 genome.wustl.edu 37 12 49663619 49663619 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032704.3 +1 provisional p.R79C 1.000 155 0.6% 377 41.1% 519 45.6% probably_damaging(0.999) - - HMMPfam_Tubulin,superfamily_Tubulin_FtsZ ENSG00000246003 0 genome.wustl.edu 37 12 49690187 49690187 + RNA SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000501178 -1 known NULL 0.077 78 0% 150 36.7% 0 - - - - - TROAP 10024 genome.wustl.edu 37 12 49722784 49722784 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005480.3 +1 validated p.C322 0.000 94 0% 180 31.7% 25 44% - - - NULL KCNH3 23416 genome.wustl.edu 37 12 49937697 49937697 + Splice_Site SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012284.1 +1 validated e6-1 1.000 52 0% 66 45.5% 2 100% - - - - NCKAP5L 57701 genome.wustl.edu 37 12 50196918 50196918 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001037806.3 -1 validated p.E52K 1.000 78 0% 174 34.5% 4 25% probably_damaging(0.985) deleterious(0.01) deleterious(0.838) NULL ASIC1 41 genome.wustl.edu 37 12 50452864 50452864 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020039.2 +1 reviewed p.K105N 1.000 81 1.2% 144 45.1% 0 - possibly_damaging(0.492) tolerated(0.47) neutral(0.175) HMMPfam_ASC LIMA1 51474 genome.wustl.edu 37 12 50589625 50589625 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001113546.1 -1 validated p.E340K 0.982 38 0% 108 37% 10 30% probably_damaging(0.996) deleterious(0.04) deleterious(0.810) NULL LIMA1 51474 genome.wustl.edu 37 12 50615859 50615859 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001113546.1 -1 validated p.V192A 0.987 302 0% 499 30.3% 5 60% probably_damaging(0.957) deleterious(0) deleterious(0.845) NULL LIMA1 51474 genome.wustl.edu 37 12 50616127 50616127 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001113546.1 -1 validated p.H103N 0.958 107 0% 225 27.6% 13 38.4% benign(0.009) tolerated(0.33) neutral(0.025) NULL DIP2B 57609 genome.wustl.edu 37 12 51034576 51034576 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173602.2 +1 validated p.A81D 0.988 104 0% 210 30.5% 5 40% benign(0.245) tolerated(0.23) neutral(0.067) HMMPfam_DMAP_binding DIP2B 57609 genome.wustl.edu 37 12 51080411 51080411 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173602.2 +1 validated p.P499 0.970 157 0% 267 39% 4 50% - - - HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like DIP2B 57609 genome.wustl.edu 37 12 51108288 51108288 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173602.2 +1 validated p.L920 1.000 138 0% 276 31.2% 3 66.6% - - - superfamily_Acetyl-CoA synthetase-like DIP2B 57609 genome.wustl.edu 37 12 51126253 51126253 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173602.2 +1 validated p.I1305 0.404 83 0% 112 32.1% 8 0% - - - HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like ATF1 466 genome.wustl.edu 37 12 51189724 51189724 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005171.3 +1 validated p.Q42H 1.000 127 0% 247 32.4% 9 0% probably_damaging(0.98) deleterious(0.04) deleterious(0.773) NULL CSRNP2 81566 genome.wustl.edu 37 12 51457699 51457699 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030809.1 -1 provisional p.D488Y 0.995 68 0% 133 31.6% 22 50% possibly_damaging(0.922) deleterious(0) deleterious(0.816) NULL TFCP2 7024 genome.wustl.edu 37 12 51493439 51493439 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005653.4 -1 reviewed p.F425 1.000 320 0% 577 36.9% 34 14.7% - - - NULL TFCP2 7024 genome.wustl.edu 37 12 51497498 51497498 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005653.4 -1 reviewed p.R339* 1.000 200 0% 428 31.1% 20 5% - - - superfamily_SAM/Pointed domain POU6F1 5463 genome.wustl.edu 37 12 51584232 51584232 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002702.3 -1 validated p.R235H 1.000 80 0% 166 34.3% 5 40% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like POU6F1 5463 genome.wustl.edu 37 12 51584312 51584312 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002702.3 -1 validated p.W208* 1.000 103 0% 212 30.7% 5 20% - - - HMMPfam_Pou,HMMSmart_SM00352,superfamily_lambda repressor-like DNA-binding domains GALNT6 11226 genome.wustl.edu 37 12 51752037 51752037 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007210.3 -1 reviewed p.F459 0.854 116 0% 216 31.5% 3 33.3% - - - superfamily_SSF53448 GALNT6 11226 genome.wustl.edu 37 12 51758030 51758030 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007210.3 -1 reviewed p.F308 0.726 118 0% 155 27.1% 8 62.5% - - - HMMPfam_Glycos_transf_2,superfamily_SSF53448 SLC4A8 9498 genome.wustl.edu 37 12 51834555 51834555 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001039960.1 +1 validated p.E38* 1.000 158 0% 276 35.9% 0 - - - - NULL SLC4A8 9498 genome.wustl.edu 37 12 51865243 51865243 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001039960.1 +1 validated p.E611* 1.000 226 0% 240 31.7% 0 - - - - HMMPfam_HCO3_cotransp SLC4A8 9498 genome.wustl.edu 37 12 51890948 51890948 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004858.2 +1 validated p.N1041H 0.025 108 0% 211 39.3% 0 - possibly_damaging(0.776) deleterious(0) deleterious(0.734) NULL SCN8A 6334 genome.wustl.edu 37 12 52094966 52094966 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014191.2 +1 reviewed p.L323F 1.000 357 0% 516 34.7% 0 - possibly_damaging(0.823) deleterious(0) deleterious(0.756) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN8A 6334 genome.wustl.edu 37 12 52156333 52156333 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014191.2 +1 reviewed p.A806V 1.000 249 0% 336 33.6% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN8A 6334 genome.wustl.edu 37 12 52156341 52156341 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014191.2 +1 reviewed p.P809S 1.000 250 0% 319 34.2% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels KRT80 144501 genome.wustl.edu 37 12 52566004 52566004 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182507.2 -1 reviewed p.L386M 1.000 117 0% 200 29% 17 41.1% probably_damaging(0.998) deleterious(0.04) deleterious(0.823) HMMPfam_Filament KRT6C 286887 genome.wustl.edu 37 12 52864991 52864991 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173086.4 -1 reviewed p.I334 0.970 348 0% 475 29.9% 0 - - - - HMMPfam_Filament KRT6A 3853 genome.wustl.edu 37 12 52884491 52884491 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005554.3 -1 reviewed p.I313 1.000 320 0.3% 462 31.8% 27 55.5% - - - HMMPfam_Filament KRT6A 3853 genome.wustl.edu 37 12 52884955 52884955 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005554.3 -1 reviewed p.Y253H 1.000 463 0% 641 33.4% 26 46.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Filament KRT6A 3853 genome.wustl.edu 37 12 52886677 52886677 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005554.3 -1 reviewed p.G99E 0.996 288 0% 339 22.4% 2 50% unknown(0) deleterious(0.04) - NULL KRT5 3852 genome.wustl.edu 37 12 52911437 52911437 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000424.3 -1 reviewed p.K343N 0.994 271 0% 310 35.2% 957 45.5% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Filament LOC100129218 100129218 genome.wustl.edu 37 12 52912843 52912843 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_001718439.2 +1 model p.E234K 0.103 297 0% 349 36.4% 418 50.4% - - - NULL KRT73 319101 genome.wustl.edu 37 12 53010078 53010078 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_175068.2 -1 reviewed p.N178K 1.000 292 0% 350 30.9% 0 - possibly_damaging(0.932) deleterious(0) deleterious(0.823) HMMPfam_Filament KRT2 3849 genome.wustl.edu 37 12 53039159 53039159 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000423.2 -1 reviewed p.G522R 1.000 158 0% 287 38.7% 0 - unknown(0) tolerated(0.34) - NULL KRT77 374454 genome.wustl.edu 37 12 53085738 53085738 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_175078.2 -1 reviewed p.Q482H 1.000 85 0% 119 31.1% 0 - unknown(0) tolerated(0.12) - NULL KRT77 374454 genome.wustl.edu 37 12 53090208 53090208 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_175078.2 -1 reviewed p.E255D 1.000 193 0% 315 23.8% 0 - probably_damaging(0.992) tolerated(0.06) deleterious(0.770) HMMPfam_Filament KRT3 3850 genome.wustl.edu 37 12 53186950 53186950 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_057088.2 -1 reviewed p.K308N 1.000 330 0% 631 33.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Filament KRT3 3850 genome.wustl.edu 37 12 53188005 53188005 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_057088.2 -1 reviewed p.E252D 0.965 230 0% 329 29.8% 0 - probably_damaging(0.991) tolerated(0.12) deleterious(0.705) HMMPfam_Filament KRT79 338785 genome.wustl.edu 37 12 53217734 53217734 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_175834.2 -1 reviewed p.E361D 1.000 88 0% 136 35.3% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_Prefoldin,HMMPfam_Filament KRT18 3875 genome.wustl.edu 37 12 53343375 53343375 + Splice_Site SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000224.2 +1 reviewed e1+1 1.000 29 0% 31 22.6% 32 65.6% - - - - CSAD 51380 genome.wustl.edu 37 12 53567555 53567555 + Splice_Site SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015989.4 -1 validated e2-1 0.382 89 0% 328 32.6% 8 62.5% - - - - RARG 5916 genome.wustl.edu 37 12 53609098 53609098 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000966.4 -1 validated p.E152K 1.000 165 0% 316 37% 11 27.2% benign(0.141) tolerated(0.17) neutral(0.071) HMMPfam_zf-C4,HMMSmart_SM00399,superfamily_Nuclear receptor ligand-binding domain,superfamily_Glucocorticoid receptor-like (DNA-binding domain) SP7 121340 genome.wustl.edu 37 12 53723091 53723091 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152860.1 -1 provisional p.K45N 1.000 172 0% 313 42.2% 1 0% benign(0.328) tolerated(0.25) neutral(0.140) NULL SP1 6667 genome.wustl.edu 37 12 53800403 53800403 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138473.2 +1 validated p.A570 0.962 63 0% 160 30% 19 36.8% - - - NULL NPFF 8620 genome.wustl.edu 37 12 53900610 53900610 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003717.2 -1 reviewed p.N98H 0.000 80 0% 143 29.4% 5 20% benign(0.002) tolerated(0.16) neutral(0.059) NULL ATF7 11016 genome.wustl.edu 37 12 53946348 53946348 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001130059.1 -1 validated p.R41Q 1.000 182 0% 365 34.5% 6 33.3% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL CALCOCO1 57658 genome.wustl.edu 37 12 54105605 54105605 + RNA SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NR_026554.1 -1 validated NULL 0.182 65 0% 103 35% 45 46.6% - - - - HOXC5 3222 genome.wustl.edu 37 12 54427047 54427047 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018953.2 +1 reviewed p.I47 1.000 85 0% 75 34.7% 0 - - - - NULL GPR84 53831 genome.wustl.edu 37 12 54757322 54757322 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020370.2 -1 validated p.S105F 1.000 152 0% 323 34.4% 2 0% possibly_damaging(0.906) tolerated(0.17) neutral(0.418) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ITGA5 3678 genome.wustl.edu 37 12 54795258 54795258 + Missense_Mutation SNP A A T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002205.2 -1 reviewed p.S798T 1.000 114 0% 197 36.5% 30 0% probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMPfam_Integrin_alpha2,superfamily_SSF69179 ITGA5 3678 genome.wustl.edu 37 12 54795425 54795425 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002205.2 -1 reviewed p.S777 1.000 184 0% 353 33.7% 40 0% - - - HMMPfam_Integrin_alpha2,superfamily_SSF69179 ITGA5 3678 genome.wustl.edu 37 12 54798534 54798534 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002205.2 -1 reviewed p.G457V 1.000 56 0% 66 27.3% 19 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_FG-GAP,HMMSmart_Int_alpha,superfamily_SSF69318 NCKAP1L 3071 genome.wustl.edu 37 12 54901636 54901636 + Splice_Site SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005337.4 +1 reviewed e4-1 1.000 318 0% 463 31.3% 0 - - - - - PPP1R1A 5502 genome.wustl.edu 37 12 54971294 54971294 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000379690 -1 known p.P114S 0.001 11 0% 19 52.6% 0 - probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMPfam_DARPP-32 DCD 117159 genome.wustl.edu 37 12 55038502 55038502 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_053283.2 -1 reviewed p.L110I 0.000 84 0% 82 36.6% 0 - unknown(0) - - NULL KIAA0748 9840 genome.wustl.edu 37 12 55356965 55356965 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001098815.1 -1 validated p.S239 1.000 108 0% 193 37.3% 0 - unknown(0) - - NULL OR6C74 254783 genome.wustl.edu 37 12 55641105 55641105 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005490.1 +1 provisional p.L12I 0.885 320 0% 260 35.4% 0 - probably_damaging(0.991) deleterious(0.02) deleterious(0.827) superfamily_SSF81321 PHC1P1 653441 genome.wustl.edu 37 12 55807234 55807234 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000326184 -1 known p.Q429 0.998 205 0% 315 19.4% 3 0% - - - NULL PHC1P1 653441 genome.wustl.edu 37 12 55807956 55807956 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000326184 -1 known p.E189* 1.000 171 0% 245 29.4% 3 0% - - - NULL LOC100288280 100288280 genome.wustl.edu 37 12 55808271 55808271 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002343188.1 +1 model p.A31V 1.000 183 0% 236 32.2% 4 0% - - - NULL OR6C2 341416 genome.wustl.edu 37 12 55846864 55846864 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_054105.1 +1 provisional p.T289 0.000 221 0% 153 27.5% 0 - - - - superfamily_SSF81321 OR6C70 390327 genome.wustl.edu 37 12 55863736 55863736 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005499.1 -1 provisional p.N63H 0.973 48 0% 60 35% 0 - probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_7tm_1,superfamily_SSF81321 OR6C4 341418 genome.wustl.edu 37 12 55945748 55945748 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005494.1 +1 provisional p.I246 0.032 189 0% 219 42.9% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 ITGA7 3679 genome.wustl.edu 37 12 56090160 56090160 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001144996.1 -1 reviewed p.Q602H 0.003 51 0% 67 43.3% 2 50% benign(0.002) tolerated(0.08) neutral(0.300) HMMPfam_Integrin_alpha2,superfamily_Integrin domains ITGA7 3679 genome.wustl.edu 37 12 56092353 56092353 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001144996.1 -1 reviewed p.D340Y 1.000 65 0% 108 42.6% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_FG-GAP,HMMSmart_SM00191,superfamily_Integrin alpha N-terminal domain ITGA7 3679 genome.wustl.edu 37 12 56094833 56094833 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001144996.1 -1 reviewed p.D174N 0.999 154 0% 243 30.9% 0 - probably_damaging(0.986) tolerated(0.05) deleterious(0.780) superfamily_Integrin alpha N-terminal domain RDH5 5959 genome.wustl.edu 37 12 56117724 56117724 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002905.3 +1 reviewed p.F208 1.000 46 0% 71 32.4% 2 100% - - - superfamily_NAD(P)-bd SARNP 84324 genome.wustl.edu 37 12 56182893 56182893 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033082.3 -1 reviewed p.R156I 1.000 191 0% 291 21.3% 127 24.4% probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL RAB5B 5869 genome.wustl.edu 37 12 56385188 56385188 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002868.2 +1 validated p.E161 1.000 122 0% 289 27.3% 55 49% - - - HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases IKZF4 64375 genome.wustl.edu 37 12 56417543 56417543 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022465.3 +1 validated p.C59F 1.000 167 0% 250 32.4% 0 - benign(0) deleterious(0.01) neutral(0.406) NULL IKZF4 64375 genome.wustl.edu 37 12 56418790 56418790 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000431367 +1 known p.R4I 0.000 37 0% 60 40% 0 - - - - NULL PA2G4 5036 genome.wustl.edu 37 12 56505310 56505310 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006191.2 +1 reviewed p.K372N 1.000 230 0% 385 34.5% 202 37.6% probably_damaging(0.988) deleterious(0.01) deleterious(0.843) NULL ZC3H10 84872 genome.wustl.edu 37 12 56514516 56514516 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032786.1 +1 provisional p.R57Q 1.000 92 0% 145 38.6% 9 55.5% probably_damaging(0.994) deleterious(0.03) deleterious(0.817) HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1 ESYT1 23344 genome.wustl.edu 37 12 56526334 56526334 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015292.2 +1 validated p.R372C 0.996 151 0% 292 32.9% 66 43.9% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) MYL6B 140465 genome.wustl.edu 37 12 56548599 56548599 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002475.3 +1 reviewed p.I59 1.000 179 0% 270 32.6% 97 34% - - - NULL MYL6 4637 genome.wustl.edu 37 12 56555179 56555179 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_079423.2 +1 reviewed p.R146C 0.998 177 0% 299 38.1% 4774 36.7% probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMSmart_SM00054,superfamily_EF-hand SMARCC2 6601 genome.wustl.edu 37 12 56574845 56574845 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003075.3 -1 reviewed p.E333* 1.000 315 0% 660 22.1% 27 14.8% - - - NULL RNF41 10193 genome.wustl.edu 37 12 56600237 56600237 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005785.2 -1 reviewed p.E316D 1.000 49 0% 99 30.3% 28 32.1% benign(0) tolerated(0.12) neutral(0.261) NULL OBFC2B 79035 genome.wustl.edu 37 12 56619962 56619962 + Splice_Site SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024068.3 +1 validated e4-1 1.000 143 0% 277 33.2% 2 100% - - - - GLS2 27165 genome.wustl.edu 37 12 56865592 56865592 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013267.2 -1 reviewed p.I539 0.982 98 0% 246 32.9% 3 0% - - - HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat BAZ2A 11176 genome.wustl.edu 37 12 56998031 56998031 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013449.3 -1 validated p.N1005S 1.000 139 0% 242 38% 19 42.1% possibly_damaging(0.942) deleterious(0.03) deleterious(0.752) NULL NACA 4666 genome.wustl.edu 37 12 57114324 57114324 + Silent SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001113203.1 -1 validated p.A330 0.001 95 0% 230 33.9% 0 - - - - NULL PRIM1 5557 genome.wustl.edu 37 12 57132306 57132306 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000946.2 -1 reviewed p.F352L 0.939 199 0% 423 36.4% 15 53.3% benign(0) tolerated(0.69) neutral(0.002) superfamily_SSF56747 RDH16 8608 genome.wustl.edu 37 12 57346690 57346690 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003708.3 -1 validated p.F219L 0.000 131 0% 212 38.7% 0 - benign(0) tolerated(1) - superfamily_NAD(P)-bd ZBTB39 9880 genome.wustl.edu 37 12 57397276 57397276 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014830.1 -1 provisional p.N476H 0.944 34 0% 83 22.9% 2 0% possibly_damaging(0.491) deleterious(0.01) deleterious(0.569) superfamily_C2H2 and C2HC zinc fingers MYO1A 4640 genome.wustl.edu 37 12 57437734 57437734 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005379.2 -1 reviewed p.E266D 1.000 183 0% 280 35.7% 0 - probably_damaging(0.956) tolerated(0.49) neutral(0.410) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYO1A 4640 genome.wustl.edu 37 12 57440849 57440849 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005379.2 -1 reviewed p.R158Q 1.000 181 0% 381 35.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 LRP1 4035 genome.wustl.edu 37 12 57532311 57532311 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002332.2 +1 reviewed p.R46Q 1.000 218 0% 353 32.6% 5 0% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1,superfamily_LDL receptor-like module LRP1 4035 genome.wustl.edu 37 12 57556270 57556270 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002332.2 +1 reviewed p.E791D 1.000 106 0% 132 34.1% 8 12.5% benign(0.296) tolerated(0.66) neutral(0.094) superfamily_YWTD domain LRP1 4035 genome.wustl.edu 37 12 57572681 57572681 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002332.2 +1 reviewed p.P1539S 1.000 48 0% 85 22.4% 11 18.1% possibly_damaging(0.943) tolerated(0.07) deleterious(0.707) HMMSmart_SM00181,superfamily_EGF/Laminin SHMT2 6472 genome.wustl.edu 37 12 57624596 57624596 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005412.5 +1 reviewed p.R15I 1.000 48 0% 118 33.9% 84 58.3% benign(0) deleterious(0) neutral(0.445) NULL STAC3 246329 genome.wustl.edu 37 12 57642489 57642489 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145064.1 -1 provisional p.I144 0.964 196 0% 332 34.3% 6 66.6% - - - superfamily_Cysteine-rich domain R3HDM2 22864 genome.wustl.edu 37 12 57651887 57651887 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014925.3 -1 validated p.S765P 1.000 82 0% 173 27.2% 38 39.4% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL INHBE 83729 genome.wustl.edu 37 12 57849510 57849510 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031479.3 +1 validated p.T64N 0.020 117 0% 165 31.5% 1 100% probably_damaging(0.974) tolerated(0.08) deleterious(0.716) NULL GLI1 2735 genome.wustl.edu 37 12 57858942 57858942 + Silent SNP G G A rs148571068 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005269.2 +1 reviewed p.S146 0.910 75 0% 132 30.3% 2 0% - - - NULL GLI1 2735 genome.wustl.edu 37 12 57865314 57865314 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005269.2 +1 reviewed p.L931M 0.999 42 0% 83 31.3% 7 0% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL ARHGAP9 64333 genome.wustl.edu 37 12 57868672 57868672 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032496.2 -1 reviewed p.A546D 1.000 39 0% 79 35.4% 5 0% possibly_damaging(0.9) tolerated(0.52) neutral(0.365) HMMPfam_RhoGAP,HMMSmart_RhoGAP,superfamily_Rho_GAP MARS 4141 genome.wustl.edu 37 12 57910042 57910042 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004990.2 +1 reviewed p.P826 0.822 88 0% 135 34.8% 205 48.2% - - - NULL DDIT3 1649 genome.wustl.edu 37 12 57910762 57910762 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004083.4 -1 validated p.R114W 1.000 197 0% 338 36.1% 140 50.7% possibly_damaging(0.824) deleterious(0) deleterious(0.756) HMMSmart_SM00338,HMMPfam_bZIP_2 MIR616 693201 genome.wustl.edu 37 12 57912984 57912984 + RNA SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000385293 -1 known NULL 0.000 142 0% 296 41.6% 0 - - - - - MBD6 114785 genome.wustl.edu 37 12 57922220 57922220 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_052897.3 +1 validated p.F899L 1.000 27 0% 27 29.6% 30 33.3% possibly_damaging(0.865) - - NULL KIF5A 3798 genome.wustl.edu 37 12 57966024 57966024 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004984.2 +1 reviewed p.L515M 0.999 136 0% 328 40.2% 0 - probably_damaging(0.994) tolerated(0.07) deleterious(0.771) NULL KIF5A 3798 genome.wustl.edu 37 12 57971822 57971822 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004984.2 +1 reviewed p.R798C 1.000 95 0% 172 36% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Prefoldin CYP27B1 1594 genome.wustl.edu 37 12 58157540 58157540 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000785.3 -1 reviewed p.P423T 1.000 90 0% 167 36.5% 0 - possibly_damaging(0.736) deleterious(0.04) deleterious(0.618) HMMPfam_p450,superfamily_Cytochrome P450 CYP27B1 1594 genome.wustl.edu 37 12 58158285 58158285 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000785.3 -1 reviewed p.E338K 0.976 118 0% 197 39.1% 1 0% possibly_damaging(0.439) tolerated(0.06) neutral(0.466) HMMPfam_p450,superfamily_Cytochrome P450 TSFM 10102 genome.wustl.edu 37 12 58180838 58180838 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005726.5 +1 reviewed p.D126Y 1.000 100 0% 126 28.6% 34 44.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_EF_TS,superfamily_Elongation factor Ts (EF-Ts) dimerisation domain,PatternScan_EF_TS_2 XRCC6BP1 91419 genome.wustl.edu 37 12 58347431 58347431 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033276.2 +1 provisional p.E166* 1.000 374 0% 538 28.4% 32 56.2% - - - HMMPfam_Peptidase_M76 LRIG3 121227 genome.wustl.edu 37 12 59268113 59268113 + Splice_Site SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153377.3 -1 provisional e18-1 1.000 211 0% 228 33.8% 0 - - - - - SLC16A7 9194 genome.wustl.edu 37 12 60173362 60173362 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004731.3 +1 provisional p.E447* 0.912 147 0% 154 34.4% 0 - - - - NULL MON2 23041 genome.wustl.edu 37 12 62877993 62877993 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015026.2 +1 validated p.R52Q 1.000 79 0% 73 17.8% 2 50% possibly_damaging(0.602) tolerated(0.21) neutral(0.253) NULL MON2 23041 genome.wustl.edu 37 12 62954874 62954874 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015026.2 +1 validated p.A1338D 1.000 115 0.9% 122 26.2% 6 33.3% benign(0.403) deleterious(0.02) deleterious(0.512) superfamily_ARM-type_fold MON2 23041 genome.wustl.edu 37 12 62986476 62986476 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015026.2 +1 validated p.F1701V 1.000 157 0% 181 35.4% 19 52.6% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL ENSG00000250314 0 genome.wustl.edu 37 12 63397592 63397592 + RNA SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000514535 -1 known NULL 1.000 150 0% 182 34.6% 0 - - - - - AVPR1A 552 genome.wustl.edu 37 12 63541185 63541185 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000706.3 -1 reviewed p.S404L 0.967 281 0% 447 26.8% 1 0% possibly_damaging(0.918) tolerated(0.09) deleterious(0.665) HMMPfam_DUF1856 DPY19L2 283417 genome.wustl.edu 37 12 63954405 63954405 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173812.4 -1 validated p.D722Y 1.000 97 0% 130 30.8% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF2211 DPY19L2 283417 genome.wustl.edu 37 12 64020267 64020267 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173812.4 -1 validated p.F281L 1.000 58 0% 48 22.9% 0 - benign(0.043) deleterious(0.02) neutral(0.386) HMMPfam_DUF2211 C12orf56 115749 genome.wustl.edu 37 12 64746746 64746746 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001099676.2 -1 validated p.E115* 0.368 144 0% 225 38.7% 0 - - - - NULL XPOT 11260 genome.wustl.edu 37 12 64818478 64818478 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007235.3 +1 reviewed p.R428C 1.000 187 0% 275 32.4% 21 57.1% benign(0.013) deleterious(0.02) neutral(0.384) superfamily_ARM-type_fold TBK1 29110 genome.wustl.edu 37 12 64849723 64849723 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013254.2 +1 reviewed p.R25C 1.000 125 0% 242 38% 5 40% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase LEMD3 23592 genome.wustl.edu 37 12 65633925 65633925 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014319.4 +1 reviewed p.R678Q 1.000 119 0% 125 28% 7 42.8% probably_damaging(0.991) tolerated(0.26) deleterious(0.478) HMMPfam_MAN1_C MSRB3 253827 genome.wustl.edu 37 12 65856990 65856990 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198080.2 +1 validated p.R156I 1.000 202 0% 257 35.4% 5 0% probably_damaging(0.987) deleterious(0) deleterious(0.881) HMMPfam_SelR,superfamily_Mss4_like TMBIM4 51643 genome.wustl.edu 37 12 66531743 66531743 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016056.2 -1 validated p.K238N 0.998 77 0% 84 32.1% 54 33.3% - - - NULL TMBIM4 51643 genome.wustl.edu 37 12 66547187 66547187 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016056.2 -1 validated p.L47I 1.000 109 0% 130 24.6% 51 25.4% benign(0.228) tolerated(0.16) neutral(0.082) HMMPfam_UPF0005 IRAK3 11213 genome.wustl.edu 37 12 66641494 66641494 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007199.2 +1 reviewed p.S445I 0.584 150 0% 200 32% 1 0% possibly_damaging(0.916) tolerated(0.06) deleterious(0.690) HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) HELB 92797 genome.wustl.edu 37 12 66700197 66700197 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033647.2 +1 reviewed p.R227Q 1.000 220 0% 264 39.4% 1 0% probably_damaging(0.998) tolerated(0.23) deleterious(0.516) NULL HELB 92797 genome.wustl.edu 37 12 66715761 66715761 + Missense_Mutation SNP A A T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033647.2 +1 reviewed p.E730V 0.945 190 0% 233 33.5% 0 - probably_damaging(0.964) tolerated(0.26) neutral(0.441) superfamily_P-loop containing nucleoside triphosphate hydrolases CAND1 55832 genome.wustl.edu 37 12 67675792 67675792 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018448.3 +1 validated p.L57 1.000 217 0.5% 340 28.8% 6 50% - - - HMMPfam_HEAT,superfamily_ARM repeat CAND1 55832 genome.wustl.edu 37 12 67699069 67699069 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018448.3 +1 validated p.L541I 1.000 206 0% 188 35.6% 21 33.3% benign(0.104) tolerated(0.37) neutral(0.027) superfamily_ARM repeat DYRK2 8445 genome.wustl.edu 37 12 68051680 68051680 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006482.2 +1 reviewed p.S331 0.107 110 0% 148 34.5% 11 45.4% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase NUP107 57122 genome.wustl.edu 37 12 69103079 69103079 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020401.2 +1 reviewed p.R264Q 1.000 95 0% 142 29.6% 12 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Nup84_Nup100 MDM2 4193 genome.wustl.edu 37 12 69222705 69222705 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002392.3 +1 reviewed p.S226 0.724 84 0% 178 34.8% 12 41.6% - - - superfamily_SWIB/MDM2 domain CPM 1368 genome.wustl.edu 37 12 69326507 69326507 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005502.2 -1 reviewed p.Q37H 0.985 111 0% 186 32.8% 3 0% benign(0.008) tolerated(0.13) neutral(0.253) HMMPfam_Peptidase_M14,HMMSmart_Zn_pept,superfamily_SSF53187 BEST3 144453 genome.wustl.edu 37 12 70070717 70070717 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032735.2 -1 validated p.F282L 1.000 62 1.6% 130 31.5% 0 - benign(0.415) tolerated(0.17) neutral(0.194) HMMPfam_Bestrophin BEST3 144453 genome.wustl.edu 37 12 70078335 70078335 + Nonstop_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000266661 -1 known p.*73Q 0.262 168 0.6% 271 31.4% 0 - - - - NULL RAB3IP 117177 genome.wustl.edu 37 12 70194054 70194054 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_175623.2 +1 validated p.C334 1.000 200 0% 223 33.6% 35 51.4% - - - NULL CNOT2 4848 genome.wustl.edu 37 12 70672044 70672044 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014515.4 +1 provisional p.R13I 1.000 164 0% 177 30.5% 7 57.1% benign(0.099) deleterious(0) neutral(0.452) NULL CNOT2 4848 genome.wustl.edu 37 12 70704760 70704760 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014515.4 +1 provisional p.S45N 1.000 166 0% 141 29.8% 17 64.7% benign(0) tolerated(1) - NULL PTPRB 5787 genome.wustl.edu 37 12 70988321 70988321 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001109754.1 -1 reviewed p.G481D 1.000 302 0% 368 32.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III PTPRR 5801 genome.wustl.edu 37 12 71050484 71050484 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002849.2 -1 reviewed p.R627K 1.000 138 0% 160 38.8% 0 - probably_damaging(0.982) deleterious(0) deleterious(0.871) HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II PTPRR 5801 genome.wustl.edu 37 12 71158515 71158515 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002849.2 -1 reviewed p.R134Q 1.000 133 0% 173 40.5% 0 - benign(0.001) deleterious(0) neutral(0.445) NULL PTPRR 5801 genome.wustl.edu 37 12 71286491 71286491 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002849.2 -1 reviewed p.L109I 1.000 327 0.3% 283 25.1% 0 - benign(0.241) deleterious(0.01) neutral(0.430) NULL PTPRR 5801 genome.wustl.edu 37 12 71314163 71314163 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002849.2 -1 reviewed p.R3K 1.000 47 0% 84 35.7% 0 - benign(0.002) deleterious(0) neutral(0.445) NULL LGR5 8549 genome.wustl.edu 37 12 71974109 71974109 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003667.2 +1 provisional p.E486 0.310 258 0% 340 30.9% 8 50% - - - superfamily_L domain-like ZFC3H1 196441 genome.wustl.edu 37 12 72013718 72013718 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144982.4 -1 validated p.F1679L 1.000 100 0% 104 37.5% 2 0% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMSmart_SM00386,superfamily_Protein prenylyltransferase ZFC3H1 196441 genome.wustl.edu 37 12 72013878 72013878 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144982.4 -1 validated p.K1626T 0.491 155 0% 193 35.8% 2 50% benign(0) tolerated(0.3) neutral(0.029) superfamily_Protein prenylyltransferase ZFC3H1 196441 genome.wustl.edu 37 12 72025967 72025967 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144982.4 -1 validated p.E1049* 1.000 170 0% 136 26.5% 3 0% - - - NULL ZFC3H1 196441 genome.wustl.edu 37 12 72027185 72027185 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144982.4 -1 validated p.K848N 1.000 89 0% 74 18.9% 1 100% possibly_damaging(0.619) deleterious(0.03) deleterious(0.580) NULL ZFC3H1 196441 genome.wustl.edu 37 12 72037952 72037952 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144982.4 -1 validated p.R476* 1.000 513 0% 743 29.1% 6 33.3% - - - NULL RAB21 23011 genome.wustl.edu 37 12 72163597 72163597 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014999.2 +1 provisional p.K59N 1.000 184 0% 193 37.3% 13 15.3% probably_damaging(0.986) deleterious(0) deleterious(0.879) HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540 TBC1D15 64786 genome.wustl.edu 37 12 72288536 72288536 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022771.4 +1 reviewed p.S260N 1.000 121 0% 89 27% 11 54.5% benign(0.338) deleterious(0.04) neutral(0.455) NULL TPH2 121278 genome.wustl.edu 37 12 72338072 72338072 + Splice_Site SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173353.3 +1 reviewed e3-2 1.000 186 0% 239 40.2% 0 - - - - - TPH2 121278 genome.wustl.edu 37 12 72338170 72338170 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173353.3 +1 reviewed p.E118* 1.000 256 0.4% 307 37.5% 0 - - - - HMMPfam_ACT,superfamily_SSF55021 TRHDE 29953 genome.wustl.edu 37 12 72969300 72969300 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013381.2 +1 reviewed p.D722N 1.000 350 0% 195 24.1% 0 - probably_damaging(1) deleterious(0.05) deleterious(0.845) NULL KCNC2 3747 genome.wustl.edu 37 12 75444936 75444936 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_139137.2 -1 reviewed p.T283 0.626 280 0% 242 28.1% 0 - - - - superfamily_Voltage-gated potassium channels CAPS2 84698 genome.wustl.edu 37 12 75672828 75672828 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000328705 -1 known p.E331* 1.000 176 0% 101 21.8% 0 - - - - superfamily_SSF47473 CAPS2 84698 genome.wustl.edu 37 12 75676053 75676053 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032606.3 -1 validated p.K549N 1.000 209 0% 180 26.1% 0 - probably_damaging(0.975) deleterious(0) deleterious(0.861) NULL CAPS2 84698 genome.wustl.edu 37 12 75698581 75698581 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032606.3 -1 validated p.K264N 0.000 333 0.6% 440 34.1% 0 - benign(0.056) tolerated(0.46) neutral(0.015) NULL GLIPR1L2 144321 genome.wustl.edu 37 12 75816691 75816691 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000435775 +1 known p.T163I 0.001 187 0% 301 34.2% 0 - unknown(0) - - HMMSmart_SCP BBS10 79738 genome.wustl.edu 37 12 76741275 76741275 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024685.3 -1 reviewed p.T164A 0.275 122 0% 156 39.1% 1 0% possibly_damaging(0.496) tolerated(0.4) neutral(0.181) superfamily_GroEL-ATPase OSBPL8 114882 genome.wustl.edu 37 12 76791548 76791548 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020841.4 -1 reviewed p.E200* 1.000 210 0% 314 38.2% 5 0% - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like CSRP2 1466 genome.wustl.edu 37 12 77257072 77257072 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001321.1 -1 reviewed p.E55D 1.000 155 0% 225 33.3% 77 32.4% possibly_damaging(0.473) tolerated(0.19) neutral(0.206) HMMPfam_LIM,HMMSmart_SM00132,superfamily_Glucocorticoid receptor-like (DNA-binding domain) NAV3 89795 genome.wustl.edu 37 12 78400466 78400466 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014903.4 +1 validated p.S383Y 1.000 122 0% 122 35.2% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL NAV3 89795 genome.wustl.edu 37 12 78400726 78400726 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014903.4 +1 validated p.E470* 1.000 111 0% 121 33.9% 0 - - - - NULL NAV3 89795 genome.wustl.edu 37 12 78513543 78513543 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014903.4 +1 validated p.S1189 0.768 153 0% 213 39.4% 0 - - - - NULL NAV3 89795 genome.wustl.edu 37 12 78531043 78531043 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014903.4 +1 validated p.D1510Y 1.000 237 0% 169 26% 0 - possibly_damaging(0.947) deleterious(0) deleterious(0.835) NULL NAV3 89795 genome.wustl.edu 37 12 78540155 78540155 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014903.4 +1 validated p.E1564* 1.000 130 0% 74 25.7% 0 - - - - NULL LOC338756 338756 genome.wustl.edu 37 12 79952808 79952808 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_001714544.1 +1 model p.E120K 0.096 6 0.000 16 0.250 0 - - - - NULL PAWR 5074 genome.wustl.edu 37 12 79986416 79986416 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002583.2 -1 reviewed p.L332 1.000 233 0% 186 27.4% 23 52.1% - - - NULL PPP1R12A 4659 genome.wustl.edu 37 12 80214661 80214661 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001143885.1 -1 reviewed p.S336Y 1.000 442 0% 484 29.3% 5 60% possibly_damaging(0.843) deleterious(0.01) deleterious(0.729) NULL OTOGL 283310 genome.wustl.edu 37 12 80645559 80645559 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000455751 +1 known p.E63* 1.000 170 0% 211 31.3% 0 - probably_damaging(0.985) deleterious(0.04) deleterious(0.781) HMMPfam_C8 OTOGL 283310 genome.wustl.edu 37 12 80714296 80714296 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000442704 +1 known p.R136Q 0.035 151 0% 151 33.1% 0 - - - - superfamily_AbfB domain (Pfam 05270) OTOGL 283310 genome.wustl.edu 37 12 80729791 80729791 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002343203.1 +1 model p.N1396H 1.000 177 0% 132 31.1% 0 - probably_damaging(0.991) tolerated(0.05) deleterious(0.789) NULL OTOGL 283310 genome.wustl.edu 37 12 80747162 80747162 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000298820 +1 known p.E256* 1.000 118 0% 132 40.9% 0 - probably_damaging(0.995) deleterious(0.04) deleterious(0.806) superfamily_Serine proterase inhibitors OTOGL 283310 genome.wustl.edu 37 12 80760404 80760404 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002343203.1 +1 model p.I2003M 0.372 162 0.6% 129 34.1% 0 - benign(0.038) tolerated(0.1) neutral(0.288) NULL PTPRQ 374462 genome.wustl.edu 37 12 80889863 80889863 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145026.1 +1 validated p.S506Y 0.946 200 0% 70 34.3% 0 - - - - NULL PTPRQ 374462 genome.wustl.edu 37 12 80899947 80899947 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145026.1 +1 validated p.E656* 1.000 101 0% 47 31.9% 0 - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL PTPRQ 374462 genome.wustl.edu 37 12 80935578 80935578 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000266688 +1 known p.F1133L 1.000 40 0% 21 52.4% 0 - possibly_damaging(0.496) tolerated(0.65) neutral(0.169) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III PTPRQ 374462 genome.wustl.edu 37 12 80998953 80998953 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145026.1 +1 validated p.S1425* 0.967 173 0% 40 20% 0 - - - - NULL MYF5 4617 genome.wustl.edu 37 12 81111152 81111152 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005593.2 +1 validated p.E104K 1.000 37 0% 47 42.6% 0 - benign(0.042) deleterious(0) neutral(0.447) HMMPfam_HLH,HMMSmart_HLH,superfamily_HLH_basic LIN7A 8825 genome.wustl.edu 37 12 81283065 81283065 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004664.2 -1 validated p.V56L 1.000 332 0% 229 31% 4 0% possibly_damaging(0.636) deleterious(0.01) deleterious(0.628) HMMSmart_SM00569,HMMPfam_L27 PPFIA2 8499 genome.wustl.edu 37 12 81657132 81657132 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003625.2 -1 reviewed p.R1198I 1.000 181 0% 206 32% 0 - - - - NULL PPFIA2 8499 genome.wustl.edu 37 12 81675106 81675106 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003625.2 -1 reviewed p.A1048T 1.000 176 0% 139 35.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SAM_1,HMMSmart_SM00454,superfamily_SAM/Pointed domain PPFIA2 8499 genome.wustl.edu 37 12 81693162 81693162 + Splice_Site SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003625.2 -1 reviewed e21-1 1.000 187 0% 121 25.6% 0 - - - - - PPFIA2 8499 genome.wustl.edu 37 12 81747039 81747039 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003625.2 -1 reviewed p.T618I 1.000 329 0% 311 32.8% 0 - benign(0.008) tolerated(0.44) neutral(0.013) NULL PPFIA2 8499 genome.wustl.edu 37 12 81851545 81851545 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003625.2 -1 reviewed p.R135I 1.000 443 0% 348 27.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL PPFIA2 8499 genome.wustl.edu 37 12 81851624 81851624 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003625.2 -1 reviewed p.E109* 1.000 303 0% 206 38.8% 0 - - - - NULL C12orf26 84190 genome.wustl.edu 37 12 82793124 82793124 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032230.2 +1 validated p.S361Y 0.998 164 0% 110 30% 3 33.3% probably_damaging(0.989) deleterious(0.01) deleterious(0.845) NULL C12orf26 84190 genome.wustl.edu 37 12 82796816 82796816 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032230.2 +1 validated p.R396* 0.997 238 0% 215 21.9% 3 0% - - - NULL SLC6A15 55117 genome.wustl.edu 37 12 85266389 85266389 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182767.4 -1 validated p.L432I 1.000 155 0% 121 38% 0 - benign(0.037) tolerated(0.05) neutral(0.347) HMMPfam_SNF LRRIQ1 84125 genome.wustl.edu 37 12 85459115 85459115 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001079910.1 +1 validated p.L823I 1.000 225 0% 106 34% 2 50% probably_damaging(0.991) tolerated(0.12) deleterious(0.705) HMMPfam_LRR_1,superfamily_RNI-like LRRIQ1 84125 genome.wustl.edu 37 12 85492769 85492769 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001079910.1 +1 validated p.N1069S 1.000 128 0% 89 37.1% 1 100% probably_damaging(0.981) deleterious(0) deleterious(0.870) superfamily_RNI-like RASSF9 9182 genome.wustl.edu 37 12 86199303 86199303 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005447.3 -1 reviewed p.R162M 0.996 387 0% 410 36.6% 3 66.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL RASSF9 9182 genome.wustl.edu 37 12 86199529 86199529 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005447.3 -1 reviewed p.E87K 1.000 163 0.6% 162 39.5% 2 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00314 NTS 4922 genome.wustl.edu 37 12 86276065 86276065 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006183.3 +1 reviewed p.R142I 1.000 108 0% 112 26.8% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_Pro-NT_NN MGAT4C 25834 genome.wustl.edu 37 12 86373821 86373821 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013244.3 -1 validated p.R228Q 0.558 109 0% 97 74.2% 0 - possibly_damaging(0.602) tolerated(0.38) neutral(0.226) HMMPfam_Glyco_transf_54 MGAT4C 25834 genome.wustl.edu 37 12 86374022 86374022 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013244.3 -1 validated p.A161V 0.867 73 2.7% 48 31.2% 0 - benign(0.208) tolerated(0.1) neutral(0.306) HMMPfam_Glyco_transf_54 C12orf50 160419 genome.wustl.edu 37 12 88391937 88391937 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152589.1 -1 predicted p.G55V 1.000 379 0% 386 32.4% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL C12orf29 91298 genome.wustl.edu 37 12 88436685 88436685 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001009894.2 +1 validated p.E98* 0.962 99 0% 46 32.6% 4 0% - - - NULL CEP290 80184 genome.wustl.edu 37 12 88476854 88476854 + Nonsense_Mutation SNP C C A rs62638179 TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025114.3 -1 reviewed p.E1656* 1.000 247 0% 253 37.9% 0 - - - - NULL CEP290 80184 genome.wustl.edu 37 12 88490731 88490731 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025114.3 -1 reviewed p.E1013* 1.000 320 0% 318 30.8% 0 - - - - NULL CEP290 80184 genome.wustl.edu 37 12 88514027 88514027 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025114.3 -1 reviewed p.V462 0.961 177 0% 141 34% 1 100% - - - NULL POC1B 282809 genome.wustl.edu 37 12 89861454 89861454 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000378528 -1 known p.S60Y 0.991 93 0% 147 29.9% 17 64.7% probably_damaging(0.981) deleterious(0) deleterious(0.870) NULL ENSG00000226982 0 genome.wustl.edu 37 12 89894379 89894379 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000413048 +1 known p.S139 0.314 196 0% 255 28.2% 0 - - - - NULL GALNT4 8693 genome.wustl.edu 37 12 89916872 89916872 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003774.3 -1 reviewed p.F485L 1.000 114 0% 155 35.5% 7 71.4% possibly_damaging(0.8) tolerated(0.24) neutral(0.338) HMMPfam_Ricin_B_lectin,HMMSmart_SM00458,superfamily_Ricin B-like lectins GALNT4 8693 genome.wustl.edu 37 12 89916942 89916942 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003774.3 -1 reviewed p.S462F 0.403 124 0% 152 35.5% 4 25% benign(0.313) deleterious(0.02) deleterious(0.481) HMMPfam_Ricin_B_lectin,HMMSmart_SM00458,superfamily_Ricin B-like lectins ATP2B1 490 genome.wustl.edu 37 12 89984923 89984923 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001682.2 -1 reviewed p.A1167 0.999 251 0% 249 34.1% 63 33.3% - - - NULL ATP2B1 490 genome.wustl.edu 37 12 90035953 90035953 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001682.2 -1 reviewed p.P130S 1.000 150 0% 151 31.8% 8 75% possibly_damaging(0.501) tolerated(0.08) neutral(0.468) superfamily_SSF81665 EPYC 1833 genome.wustl.edu 37 12 91366662 91366662 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004950.4 -1 reviewed p.A146T 0.997 345 0% 274 29.6% 4 100% benign(0) tolerated(1) - HMMSmart_SM00013,superfamily_L domain-like LUM 4060 genome.wustl.edu 37 12 91502218 91502218 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002345.3 -1 reviewed p.F180C 0.629 179 0% 177 35.6% 520 1.9% possibly_damaging(0.931) deleterious(0) deleterious(0.822) HMMSmart_SM00369,superfamily_L domain-like DCN 1634 genome.wustl.edu 37 12 91550963 91550963 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001920.3 -1 reviewed p.L181M 1.000 207 0.5% 197 29.9% 235 0.4% probably_damaging(1) tolerated(0.27) deleterious(0.533) superfamily_L domain-like PLEKHG7 440107 genome.wustl.edu 37 12 93135293 93135293 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004330.2 +1 validated p.L42 0.999 239 0% 338 28.4% 0 - - - - superfamily_DH-domain PLEKHG7 440107 genome.wustl.edu 37 12 93155554 93155554 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004330.2 +1 validated p.L243M 1.000 312 0% 283 28.6% 0 - probably_damaging(0.963) tolerated(0.17) neutral(0.465) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 UBE2N 7334 genome.wustl.edu 37 12 93804881 93804881 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003348.3 -1 reviewed p.I75M 0.998 229 0% 297 33.7% 124 54% probably_damaging(0.967) deleterious(0) deleterious(0.853) HMMPfam_UQ_con,HMMSmart_SM00212,superfamily_UBC-like SOCS2 8835 genome.wustl.edu 37 12 93966757 93966757 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003877.3 +1 reviewed p.E28D 1.000 10 0.000 8 0.500 3 0% unknown(0) tolerated(0.1) - NULL PLXNC1 10154 genome.wustl.edu 37 12 94634435 94634435 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005761.1 +1 provisional p.W765* 1.000 212 0% 309 33.3% 3 0% - - - HMMPfam_TIG,HMMSmart_IPT PLXNC1 10154 genome.wustl.edu 37 12 94642186 94642186 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005761.1 +1 provisional p.R926W 0.281 68 0% 79 38% 3 0% probably_damaging(0.967) deleterious(0.03) deleterious(0.773) HMMSmart_IPT PLXNC1 10154 genome.wustl.edu 37 12 94673353 94673353 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005761.1 +1 provisional p.E1235* 1.000 118 0% 191 38.2% 2 0% - - - superfamily_Rho_GAP,HMMPfam_Plexin_cytopl CCDC41 51134 genome.wustl.edu 37 12 94797039 94797039 + Splice_Site SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001042399.1 -1 validated e3-1 1.000 205 0.5% 233 27% 0 - - - - - CCDC41 51134 genome.wustl.edu 37 12 94805551 94805551 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001042399.1 -1 validated p.E82D 1.000 318 0% 355 39.2% 2 0% benign(0.108) tolerated(0.13) neutral(0.261) NULL NR2C1 7181 genome.wustl.edu 37 12 95416118 95416118 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003297.2 -1 reviewed p.E567* 1.000 234 0% 350 29.4% 43 37.2% - - - HMMPfam_Hormone_recep,superfamily_Nuclear receptor ligand-binding domain USP44 84101 genome.wustl.edu 37 12 95922739 95922739 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001042403.1 -1 validated p.E490* 1.000 113 0% 173 30.1% 0 - - - - HMMPfam_UCH,superfamily_Cysteine proteinases NTN4 59277 genome.wustl.edu 37 12 96059658 96059658 + Missense_Mutation SNP A A T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021229.3 -1 validated p.F560I 0.883 195 0% 297 34.3% 2 50% benign(0.002) tolerated(0.4) neutral(0.016) superfamily_TIMP-like,HMMPfam_NTR,HMMSmart_SM00643 CCDC38 120935 genome.wustl.edu 37 12 96300199 96300199 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182496.2 -1 validated p.F112C 1.000 151 0% 238 33.6% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL AMDHD1 144193 genome.wustl.edu 37 12 96350649 96350649 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152435.2 +1 validated p.E166K 1.000 45 0% 38 39.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Composite domain of metallo-dependent hydrolases,superfamily_Metallo-dependent hydrolases ELK3 2004 genome.wustl.edu 37 12 96640911 96640911 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005230.2 +1 reviewed p.R134H 1.000 113 0% 174 39.7% 4 25% probably_damaging(1) deleterious(0) deleterious(0.945) "superfamily_""Winged helix"" DNA-binding domain" C12orf63 374467 genome.wustl.edu 37 12 97052058 97052058 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198520.2 +1 validated p.Q223 0.001 159 0% 236 30.5% 0 - - - - NULL C12orf63 374467 genome.wustl.edu 37 12 97057643 97057643 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198520.2 +1 validated p.K257N 0.970 196 0% 178 33.7% 0 - unknown(0) tolerated(0.56) - NULL C12orf63 374467 genome.wustl.edu 37 12 97137181 97137181 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198520.2 +1 validated p.E832 1.000 101 0% 118 35.6% 0 - - - - NULL TMPO 7112 genome.wustl.edu 37 12 98909672 98909672 + Silent SNP G G A rs190115355 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003276.2 +1 reviewed p.S9 1.000 18 0% 41 48.8% 22 31.8% - - - superfamily_LEM domain,HMMPfam_Thymopoietin ENSG00000225185 0 genome.wustl.edu 37 12 98984867 98984867 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000420972 -1 known p.E39D 1.000 23 0% 57 35.1% 0 - - - - HMMPfam_Pro_isomerase,superfamily_Cyclophilin-like SLC25A3 5250 genome.wustl.edu 37 12 98987810 98987810 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005888.3 +1 reviewed p.H18 0.923 31 0% 23 34.8% 97 5.1% - - - NULL SLC25A3 5250 genome.wustl.edu 37 12 98991775 98991775 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005888.3 +1 reviewed p.E142* 1.000 185 0% 370 36.8% 257 6.2% - - - superfamily_Mitochondrial carrier,HMMPfam_Mito_carr APAF1 317 genome.wustl.edu 37 12 99059430 99059430 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_181861.1 +1 reviewed p.R352I 1.000 137 0% 189 19.6% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_NB-ARC,superfamily_WD40 repeat-like,superfamily_P-loop containing nucleoside triphosphate hydrolases APAF1 317 genome.wustl.edu 37 12 99093185 99093185 + Splice_Site SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_181861.1 +1 reviewed e16-1 1.000 92 0% 149 34.2% 0 - - - - - ANKS1B 56899 genome.wustl.edu 37 12 99145144 99145144 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152788.3 -1 validated p.R1221C 1.000 307 0% 530 32.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ANKS1B 56899 genome.wustl.edu 37 12 99638150 99638150 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152788.3 -1 validated p.E797* 1.000 446 0% 439 29.8% 2 50% - - - NULL ANKS1B 56899 genome.wustl.edu 37 12 99793422 99793422 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152788.3 -1 validated p.G581 0.000 236 0% 202 28.2% 0 - - - - NULL UHRF1BP1L 23074 genome.wustl.edu 37 12 100451450 100451450 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015054.1 -1 validated p.S1108Y 0.996 232 0% 228 34.6% 5 60% possibly_damaging(0.509) deleterious(0.03) deleterious(0.535) NULL SCYL2 55681 genome.wustl.edu 37 12 100720524 100720524 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017988.4 +1 provisional p.G545E 1.000 119 0% 194 27.3% 12 33.3% possibly_damaging(0.603) deleterious(0) deleterious(0.653) superfamily_ARM repeat SCYL2 55681 genome.wustl.edu 37 12 100723015 100723015 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017988.4 +1 provisional p.G560E 1.000 189 0% 170 18.8% 14 28.5% probably_damaging(0.973) deleterious(0) deleterious(0.859) superfamily_ARM repeat SLC17A8 246213 genome.wustl.edu 37 12 100813602 100813602 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_139319.2 +1 reviewed p.E479* 1.000 72 0% 79 41.8% 0 - - - - superfamily_MFS general substrate transporter SLC17A8 246213 genome.wustl.edu 37 12 100813844 100813844 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_139319.2 +1 reviewed p.K559N 0.252 120 0% 165 33.3% 0 - possibly_damaging(0.85) tolerated(0.18) neutral(0.383) NULL NR1H4 9971 genome.wustl.edu 37 12 100926248 100926248 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005123.2 +1 provisional p.R153I 1.000 203 0% 350 34.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C4,HMMSmart_SM00399,PatternScan_NUCLEAR_REC_DBD_1,superfamily_Glucocorticoid receptor-like (DNA-binding domain) NR1H4 9971 genome.wustl.edu 37 12 100930764 100930764 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005123.2 +1 provisional p.I286M 0.996 57 0% 19 31.6% 0 - possibly_damaging(0.696) tolerated(0.24) neutral(0.287) superfamily_Nuclear receptor ligand-binding domain ANO4 121601 genome.wustl.edu 37 12 101368632 101368632 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178826.3 +1 validated p.I154 1.000 204 0% 246 32.1% 0 - - - - NULL SLC5A8 160728 genome.wustl.edu 37 12 101576625 101576625 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145913.3 -1 validated p.R374I 0.000 183 0% 219 36.1% 0 - benign(0.234) tolerated(0.1) neutral(0.310) HMMPfam_SSF UTP20 27340 genome.wustl.edu 37 12 101750828 101750828 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014503.2 +1 validated p.E1887* 1.000 97 0% 119 36.1% 1 0% - - - superfamily_ARM repeat UTP20 27340 genome.wustl.edu 37 12 101757432 101757432 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014503.2 +1 validated p.R1957* 1.000 168 0% 289 31.1% 6 16.6% - - - superfamily_ARM repeat UTP20 27340 genome.wustl.edu 37 12 101774940 101774940 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014503.2 +1 validated p.S2536Y 1.000 188 0% 315 27.6% 6 66.6% possibly_damaging(0.532) tolerated(1) neutral(0.180) superfamily_ARM repeat MYBPC1 4604 genome.wustl.edu 37 12 102025853 102025853 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002465.2 +1 validated p.Y165D 1.000 207 0% 343 25.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin MYBPC1 4604 genome.wustl.edu 37 12 102036200 102036200 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002465.2 +1 validated p.E223D 1.000 102 0% 184 37.5% 0 - probably_damaging(0.984) tolerated(0.35) neutral(0.451) NULL MYBPC1 4604 genome.wustl.edu 37 12 102056274 102056274 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002465.2 +1 validated p.A724D 1.000 183 0% 229 32.8% 0 - benign(0.028) tolerated(0.08) neutral(0.301) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III SYCP3 50511 genome.wustl.edu 37 12 102127364 102127364 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153694.4 -1 reviewed p.E148* 1.000 280 0% 393 30.3% 0 - - - - HMMPfam_Cor1 GNPTAB 79158 genome.wustl.edu 37 12 102155013 102155013 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024312.4 -1 reviewed p.N1009 0.920 96 0% 123 39.8% 7 57.1% - - - NULL GNPTAB 79158 genome.wustl.edu 37 12 102174022 102174022 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024312.4 -1 reviewed p.L227V 0.980 332 0% 445 35.5% 3 66.6% benign(0.027) tolerated(0.13) neutral(0.254) NULL DRAM1 55332 genome.wustl.edu 37 12 102313919 102313919 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018370.2 +1 reviewed p.C204 1.000 372 0% 565 29.9% 7 0% - - - HMMPfam_Frag1 PMCH 5367 genome.wustl.edu 37 12 102590808 102590808 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002674.2 -1 validated p.E131* 1.000 341 0% 199 28.6% 5 40% - - - HMMPfam_Pro-MCH IGF1 3479 genome.wustl.edu 37 12 102811605 102811605 + Missense_Mutation SNP T T A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001111285.1 -1 reviewed p.K193N 0.503 517 0% 834 35.3% 8 12.5% unknown(0) tolerated(0.07) - NULL HSP90B1 7184 genome.wustl.edu 37 12 104326616 104326616 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003299.1 +1 provisional p.E103* 1.000 176 0% 274 31.4% 204 5.8% - - - HMMPfam_HATPase_c,HMMSmart_HATPase_c,superfamily_ATP_bd_ATPase,PatternScan_HSP90 HSP90B1 7184 genome.wustl.edu 37 12 104327992 104327992 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003299.1 +1 provisional p.E224K 1.000 188 0% 276 38% 384 7.2% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_HATPase_c,HMMSmart_HATPase_c,superfamily_ATP_bd_ATPase HSP90B1 7184 genome.wustl.edu 37 12 104336437 104336437 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003299.1 +1 provisional p.R503* 1.000 135 0% 225 24% 1016 4.8% - - - superfamily_Ribosomal_S5_D2-typ_fold,HMMPfam_HSP90 HCFC2 29915 genome.wustl.edu 37 12 104458420 104458420 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013320.2 +1 reviewed p.A28S 1.000 19 0% 16 43.8% 0 - probably_damaging(0.967) deleterious(0.04) deleterious(0.758) HMMPfam_Kelch_1,superfamily_Galactose oxidase central domain HCFC2 29915 genome.wustl.edu 37 12 104492258 104492258 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013320.2 +1 reviewed p.K626 1.000 63 0% 57 22.8% 5 0% - - - HMMSmart_SM00060,superfamily_Fibronectin type III TXNRD1 7296 genome.wustl.edu 37 12 104651816 104651816 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000429002 +1 known p.S88F 0.075 320 0% 526 25.9% 0 - possibly_damaging(0.903) deleterious(0) deleterious(0.802) HMMPfam_Glutaredoxin,superfamily_Thioredoxin-like CHST11 50515 genome.wustl.edu 37 12 105151233 105151233 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018413.5 +1 validated p.F237 1.000 136 0% 271 35.4% 33 33.3% - - - HMMPfam_Sulfotransfer_2 CHST11 50515 genome.wustl.edu 37 12 105151530 105151530 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018413.5 +1 validated p.L336 0.983 56 0% 98 32.7% 27 55.5% - - - HMMPfam_Sulfotransfer_2 SLC41A2 84102 genome.wustl.edu 37 12 105322201 105322201 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032148.3 -1 validated p.S35 0.997 110 0% 150 34% 1 0% - - - NULL KIAA1033 23325 genome.wustl.edu 37 12 105540892 105540892 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015275.1 +1 validated p.R828* 1.000 140 0% 184 35.3% 7 14.2% - - - NULL LOC341378 341378 genome.wustl.edu 37 12 106565873 106565873 + Missense_Mutation SNP A A T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_001715424.1 +1 model p.K239N 0.989 96 0% 122 29.5% 0 - - - - NULL POLR3B 55703 genome.wustl.edu 37 12 106827548 106827548 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018082.5 +1 validated p.R560Q 1.000 238 0% 239 34.3% 2 50% probably_damaging(0.992) deleterious(0.02) deleterious(0.831) HMMPfam_RNA_pol_Rpb2_4,superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase POLR3B 55703 genome.wustl.edu 37 12 106850942 106850942 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018082.5 +1 validated p.N774H 1.000 288 0% 326 34% 4 75% benign(0.001) tolerated(0.06) neutral(0.323) HMMPfam_RNA_pol_Rpb2_6,superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase RFX4 5992 genome.wustl.edu 37 12 107109185 107109185 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_213594.1 +1 reviewed p.R334Q 1.000 120 0% 224 27.2% 0 - possibly_damaging(0.559) tolerated(0.07) deleterious(0.510) NULL RFX4 5992 genome.wustl.edu 37 12 107109323 107109323 + Splice_Site SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_213594.1 +1 reviewed e11+1 1.000 151 0% 275 31.6% 0 - - - - - RFX4 5992 genome.wustl.edu 37 12 107126851 107126851 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_213594.1 +1 reviewed p.L541I 1.000 188 0% 277 27.4% 0 - benign(0) tolerated(0.16) neutral(0.059) NULL CRY1 1407 genome.wustl.edu 37 12 107391315 107391315 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004075.3 -1 validated p.I481 0.997 203 1% 250 31.6% 21 42.8% - - - HMMPfam_FAD_binding_7,superfamily_Cryptochrome/photolyase FAD-binding domain CRY1 1407 genome.wustl.edu 37 12 107393424 107393424 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004075.3 -1 validated p.R348C 1.000 113 0% 122 36.1% 22 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_FAD_binding_7,superfamily_Cryptochrome/photolyase FAD-binding domain PRDM4 11108 genome.wustl.edu 37 12 108128059 108128059 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012406.3 -1 reviewed p.S778 0.202 336 0% 470 33.6% 15 60% - - - NULL WSCD2 9671 genome.wustl.edu 37 12 108603925 108603925 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014653.2 +1 validated p.F175 0.999 17 0% 25 32% 0 - - - - HMMPfam_WSC,HMMSmart_SM00321 WSCD2 9671 genome.wustl.edu 37 12 108620877 108620877 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014653.2 +1 validated p.S305 0.709 100 0% 102 36.3% 0 - - - - HMMPfam_WSC,HMMSmart_SM00321 SART3 9733 genome.wustl.edu 37 12 108917263 108917263 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014706.3 -1 reviewed p.D955N 1.000 122 0% 160 34.4% 54 42.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Lsm_interact SART3 9733 genome.wustl.edu 37 12 108954655 108954655 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014706.3 -1 reviewed p.E92D 1.000 129 0% 168 29.8% 21 42.8% benign(0.096) tolerated(0.25) neutral(0.044) NULL SELPLG 6404 genome.wustl.edu 37 12 109017754 109017754 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003006.3 -1 reviewed p.G110 0.000 308 0% 544 34% 12 0% - - - NULL SVOP 55530 genome.wustl.edu 37 12 109316479 109316479 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018711.2 -1 validated p.L321I 0.735 153 0% 226 30.1% 0 - - - - NULL ACACB 32 genome.wustl.edu 37 12 109704110 109704110 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001093.3 +1 reviewed p.A2440 0.112 22 0% 16 50% 3 0% - - - NULL UBE3B 89910 genome.wustl.edu 37 12 109939183 109939183 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_130466.2 +1 reviewed p.E376K 1.000 158 0% 217 32.7% 5 40% benign(0.086) deleterious(0.02) neutral(0.390) NULL UBE3B 89910 genome.wustl.edu 37 12 109972546 109972546 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_130466.2 +1 reviewed p.R1056C 1.000 55 0% 96 35.4% 19 31.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain GIT2 9815 genome.wustl.edu 37 12 110421246 110421246 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_057169.3 -1 reviewed p.L185 0.055 240 0% 552 32.1% 4 0% - - - HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat IFT81 28981 genome.wustl.edu 37 12 110565950 110565950 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001143779.1 +1 validated p.D82Y 1.000 84 0% 206 26.2% 5 20% probably_damaging(0.972) deleterious(0.01) deleterious(0.820) NULL ATP2A2 488 genome.wustl.edu 37 12 110778478 110778478 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_170665.3 +1 reviewed p.F592 0.971 59 0% 92 32.6% 180 38.8% - - - HMMPfam_Hydrolase,superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N,superfamily_Calcium ATPase transmembrane domain M ANAPC7 51434 genome.wustl.edu 37 12 110834103 110834103 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016238.2 -1 reviewed p.T120P 0.996 110 0% 251 36.7% 14 50% possibly_damaging(0.612) tolerated(0.06) deleterious(0.534) superfamily_TPR-like RAD9B 144715 genome.wustl.edu 37 12 110944485 110944485 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152442.3 +1 validated p.F125L 0.996 113 0% 189 32.8% 0 - benign(0.01) tolerated(1) neutral(0.001) HMMPfam_Rad9,superfamily_DNA clamp PPTC7 160760 genome.wustl.edu 37 12 110977650 110977650 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_139283.1 -1 provisional p.L235I 1.000 208 0% 357 28.9% 1 0% benign(0.309) tolerated(0.13) neutral(0.349) HMMSmart_PP2C_SIG,HMMSmart_PP2Cc,superfamily_PP2C-related,HMMPfam_SpoIIE CCDC63 160762 genome.wustl.edu 37 12 111291336 111291336 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152591.1 +1 provisional p.K46T 0.921 128 0% 292 33.9% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL ATXN2 6311 genome.wustl.edu 37 12 111893869 111893869 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002973.3 -1 reviewed p.A1236 0.894 324 0% 754 32.6% 76 47.3% - - - NULL ATXN2 6311 genome.wustl.edu 37 12 111951304 111951304 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002973.3 -1 reviewed p.R632Q 1.000 104 0% 204 24% 16 31.2% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ACAD10 80724 genome.wustl.edu 37 12 112143677 112143677 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001136538.1 +1 reviewed p.N158H 1.000 159 0% 305 34.4% 3 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Hydrolase,superfamily_HAD-like ACAD10 80724 genome.wustl.edu 37 12 112150335 112150335 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001136538.1 +1 reviewed p.E273* 0.934 134 0% 243 37% 2 50% - - - NULL ERP29 10961 genome.wustl.edu 37 12 112457595 112457595 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006817.3 +1 reviewed p.F60 1.000 137 0% 192 31.2% 313 20.1% - - - superfamily_Thiordxn-like_fd,HMMPfam_ERp29_N TRAFD1 10906 genome.wustl.edu 37 12 112578784 112578784 + Missense_Mutation SNP A A T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001143906.1 +1 validated p.E133D 0.524 112 0% 314 35.4% 24 20.8% benign(0) tolerated(0.53) neutral(0.007) NULL TRAFD1 10906 genome.wustl.edu 37 12 112589777 112589777 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001143906.1 +1 validated p.P484 0.763 85 0% 167 32.9% 36 27.7% - - - NULL C12orf51 283450 genome.wustl.edu 37 12 112657288 112657288 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001109662.2 -1 validated p.R1904* 1.000 63 0% 104 28.8% 1 100% - - - NULL C12orf51 283450 genome.wustl.edu 37 12 112691858 112691858 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001109662.2 -1 validated p.D714Y 1.000 130 0% 167 29.9% 0 - probably_damaging(0.964) - - NULL RPH3A 22895 genome.wustl.edu 37 12 113285583 113285583 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001143854.1 +1 validated p.E56* 1.000 121 0% 218 23.4% 0 - - - - HMMPfam_RPH3A_effector,superfamily_FYVE/PHD zinc finger DTX1 1840 genome.wustl.edu 37 12 113531866 113531866 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004416.2 +1 reviewed p.R397* 0.909 35 0% 84 42.9% 0 - - - - superfamily_SSF57850 RASAL1 8437 genome.wustl.edu 37 12 113539774 113539774 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004658.1 -1 reviewed p.G714 0.977 33 0% 44 18.2% 3 66.6% - - - NULL IQCD 115811 genome.wustl.edu 37 12 113645265 113645265 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138451.1 -1 provisional p.R236I 0.000 94 0% 218 37.6% 12 33.3% benign(0.037) tolerated(0.21) neutral(0.046) NULL SLC24A6 80024 genome.wustl.edu 37 12 113745573 113745573 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024959.2 -1 validated p.R445Q 1.000 39 0% 67 22.4% 15 33.3% probably_damaging(0.998) tolerated(0.36) deleterious(0.494) HMMPfam_Na_Ca_ex PLBD2 196463 genome.wustl.edu 37 12 113812778 113812778 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173542.3 +1 validated p.K275N 1.000 86 0% 170 38.2% 16 37.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Phospholip_B SDSL 113675 genome.wustl.edu 37 12 113875854 113875854 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138432.2 +1 provisional p.Q320H 0.322 67 0% 91 39.6% 8 0% possibly_damaging(0.683) tolerated(0.11) deleterious(0.515) superfamily_PyrdxlP-dep_enz_bsu TBX5 6910 genome.wustl.edu 37 12 114841626 114841626 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000192.3 -1 reviewed p.S26 0.000 61 0% 25 16% 0 - - - - NULL MED13L 23389 genome.wustl.edu 37 12 116420208 116420208 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015335.3 -1 validated p.R1719I 1.000 62 0% 84 35.7% 5 40% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_TRAP_240kDa MED13L 23389 genome.wustl.edu 37 12 116421111 116421111 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015335.3 -1 validated p.S1589L 0.094 185 0% 203 35.5% 5 20% unknown(0) deleterious(0.02) - HMMPfam_TRAP_240kDa MED13L 23389 genome.wustl.edu 37 12 116534497 116534497 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015335.3 -1 validated p.K152N 1.000 205 0% 244 26.6% 1 0% probably_damaging(0.98) tolerated(0.62) neutral(0.428) NULL TESC 54997 genome.wustl.edu 37 12 117494630 117494630 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017899.3 -1 validated p.R117C 1.000 124 0% 222 41% 12 50% probably_damaging(0.982) deleterious(0.02) deleterious(0.809) superfamily_EF-hand FBXO21 23014 genome.wustl.edu 37 12 117615409 117615409 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033624.2 -1 reviewed p.L170I 1.000 215 0% 260 31.5% 3 0% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) superfamily_F-box domain NOS1 4842 genome.wustl.edu 37 12 117705854 117705854 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000620.2 -1 reviewed p.S645 1.000 116 0% 144 12.5% 0 - - - - HMMPfam_NO_synthase,superfamily_Nitric oxide (NO) synthase oxygenase domain KSR2 283455 genome.wustl.edu 37 12 118105286 118105286 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173598.4 -1 validated p.F359L 1.000 99 0% 138 30.4% 0 - benign(0.119) tolerated(0.17) neutral(0.068) superfamily_Cysteine-rich domain KSR2 283455 genome.wustl.edu 37 12 118298119 118298119 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173598.4 -1 validated p.D71N 0.999 49 0% 48 31.2% 0 - benign(0.001) tolerated(0.75) neutral(0.002) NULL WSB2 55884 genome.wustl.edu 37 12 118480745 118480745 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018639.3 -1 reviewed p.D154Y 1.000 90 0% 197 35% 65 43% probably_damaging(0.988) deleterious(0.02) deleterious(0.821) HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 PEBP1 5037 genome.wustl.edu 37 12 118575869 118575869 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002567.2 +1 validated p.S54L 0.003 73 0% 170 28.2% 315 36.5% benign(0.013) tolerated(0.09) neutral(0.297) HMMPfam_PBP,superfamily_PEBP-like PEBP1 5037 genome.wustl.edu 37 12 118582391 118582391 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002567.2 +1 validated p.G116D 1.000 101 0% 133 27.8% 558 48.9% probably_damaging(0.983) deleterious(0.02) deleterious(0.812) HMMPfam_PBP,superfamily_PEBP-like SRRM4 84530 genome.wustl.edu 37 12 119592104 119592104 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_194286.2 +1 validated p.A483V 0.000 19 0% 19 36.8% 0 - possibly_damaging(0.93) tolerated(0.2) neutral(0.425) NULL CIT 11113 genome.wustl.edu 37 12 120150036 120150036 + Nonsense_Mutation SNP C C A rs34392404 TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007174.1 -1 validated p.E1559* 1.000 278 0% 406 31.8% 2 50% - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like CIT 11113 genome.wustl.edu 37 12 120151412 120151412 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007174.1 -1 validated p.P1408T 1.000 91 0% 155 27.7% 6 66.6% probably_damaging(1) tolerated(0.16) deleterious(0.559) HMMPfam_C1_1,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,superfamily_Cysteine-rich domain CIT 11113 genome.wustl.edu 37 12 120156645 120156645 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007174.1 -1 validated p.E1246* 1.000 119 0% 166 33.1% 1 0% - - - NULL RAB35 11021 genome.wustl.edu 37 12 120534945 120534945 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000427416 -1 known p.E106* 1.000 65 0% 189 39.7% 33 45.4% - - - NULL RAB35 11021 genome.wustl.edu 37 12 120546259 120546259 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006861.6 -1 validated p.S22N 1.000 35 0% 89 42.7% 14 28.5% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMSmart_SM00176,PatternScan_SIGMA54_INTERACT_1,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMSmart_SM00177,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases GCN1L1 10985 genome.wustl.edu 37 12 120616703 120616703 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006836.1 -1 validated p.K159 1.000 49 0% 101 32.7% 12 41.6% - - - superfamily_ARM repeat SIRT4 23409 genome.wustl.edu 37 12 120741510 120741510 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012240.1 +1 reviewed p.R49H 0.999 36 0% 103 37.9% 3 0% benign(0.036) tolerated(0.08) neutral(0.302) superfamily_SSF52467 COQ5 84274 genome.wustl.edu 37 12 120941404 120941404 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000302223 -1 known p.L227I 0.004 8 0.000 21 0.429 41 34.1% unknown(0) deleterious(0.03) - NULL COQ5 84274 genome.wustl.edu 37 12 120941498 120941498 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000302223 -1 known p.E195D 0.000 55 0% 112 36.6% 63 39.6% unknown(0) tolerated(0.17) - NULL CABP1 9478 genome.wustl.edu 37 12 121088469 121088469 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031205.2 +1 reviewed p.R10K 1.000 130 0% 237 31.2% 1 0% benign(0) tolerated(0.34) neutral(0.023) NULL CABP1 9478 genome.wustl.edu 37 12 121098025 121098025 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001033677.1 +1 reviewed p.D238N 1.000 106 0% 220 27.7% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00054,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_EF-hand SPPL3 121665 genome.wustl.edu 37 12 121206271 121206271 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_139015.3 -1 validated p.I210 1.000 81 0% 123 37.4% 56 44.6% - - - HMMSmart_SM00730,HMMPfam_Peptidase_A22B C12orf43 64897 genome.wustl.edu 37 12 121442123 121442123 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022895.1 -1 predicted p.A208T 0.003 231 0% 363 33.3% 8 12.5% benign(0.011) tolerated(0.39) neutral(0.017) NULL P2RX7 5027 genome.wustl.edu 37 12 121603921 121603921 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002562.4 +1 reviewed p.Q225 1.000 256 0% 509 34.8% 1 0% - - - HMMPfam_P2X_receptor P2RX7 5027 genome.wustl.edu 37 12 121615111 121615111 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002562.4 +1 reviewed p.F350L 0.842 140 0% 288 33.7% 1 0% benign(0) tolerated(1) - HMMPfam_P2X_receptor CAMKK2 10645 genome.wustl.edu 37 12 121681927 121681927 + Nonstop_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_172214.2 -1 reviewed p.*534Y 0.000 94 0% 264 37.5% 0 - - - - NULL CAMKK2 10645 genome.wustl.edu 37 12 121701662 121701662 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006549.3 -1 reviewed p.E236K 1.000 73 0% 92 26.1% 7 71.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase KDM2B 84678 genome.wustl.edu 37 12 121947541 121947541 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032590.4 -1 reviewed p.K492N 1.000 124 0% 208 36.5% 5 40% benign(0.206) tolerated(0.43) neutral(0.034) NULL BCL7A 605 genome.wustl.edu 37 12 122468670 122468670 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020993.3 +1 reviewed p.E53K 1.000 123 0% 214 28.5% 10 60% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) HMMPfam_BCL_N CLIP1 6249 genome.wustl.edu 37 12 122758593 122758593 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002956.2 -1 validated p.N1350 0.040 162 0% 281 32.7% 30 43.3% - - - NULL RSRC2 65117 genome.wustl.edu 37 12 122990178 122990178 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_023012.4 -1 validated p.R401* 0.937 216 0% 372 32.8% 74 31% - - - NULL HCAR3 8843 genome.wustl.edu 37 12 123201154 123201154 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006018.2 -1 validated p.G44D 1.000 105 0% 242 33.1% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like CCDC62 84660 genome.wustl.edu 37 12 123285825 123285825 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_201435.3 +1 validated p.E378* 0.688 82 0% 233 20.6% 1 100% - - - NULL HIP1R 9026 genome.wustl.edu 37 12 123340116 123340116 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003959.1 +1 validated p.D338N 0.969 61 0% 67 31.3% 18 44.4% benign(0.036) tolerated(0.16) neutral(0.061) NULL HIP1R 9026 genome.wustl.edu 37 12 123340144 123340144 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003959.1 +1 validated p.S347F 0.885 62 0% 71 33.8% 18 50% possibly_damaging(0.801) tolerated(0.06) deleterious(0.624) NULL OGFOD2 79676 genome.wustl.edu 37 12 123463411 123463411 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024623.1 +1 provisional p.D155N 1.000 18 0.000 9 0.667 11 72.7% probably_damaging(1) tolerated(0.08) deleterious(0.800) HMMPfam_2OG-FeII_Oxy,HMMSmart_P4Hc MPHOSPH9 10198 genome.wustl.edu 37 12 123686834 123686834 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022782.2 -1 validated p.R453Q 0.999 107 0% 196 29.6% 0 - probably_damaging(0.994) deleterious(0.02) deleterious(0.835) NULL SBNO1 55206 genome.wustl.edu 37 12 123789165 123789165 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018183.3 -1 validated p.L1243F 1.000 99 0% 103 36.9% 22 45.4% probably_damaging(0.991) tolerated(0.71) neutral(0.446) NULL DDX55 57696 genome.wustl.edu 37 12 124090481 124090481 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020936.1 +1 reviewed p.A38T 1.000 111 0% 269 29% 13 23% benign(0.117) deleterious(0) neutral(0.454) HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH10 196385 genome.wustl.edu 37 12 124281333 124281333 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_207437.3 +1 validated p.R588Q 0.235 127 0% 291 25.8% 0 - possibly_damaging(0.671) tolerated(0.59) neutral(0.242) HMMPfam_DHC_N1 DNAH10 196385 genome.wustl.edu 37 12 124284841 124284841 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_207437.3 +1 validated p.E672* 1.000 157 0% 188 42% 0 - - - - HMMPfam_DHC_N1 DNAH10 196385 genome.wustl.edu 37 12 124297863 124297863 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_207437.3 +1 validated p.R981 0.868 154 0% 281 29.2% 0 - - - - NULL DNAH10 196385 genome.wustl.edu 37 12 124330340 124330340 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_207437.3 +1 validated p.D1734N 1.000 130 0% 283 27.2% 0 - benign(0.008) tolerated(0.08) neutral(0.300) NULL DNAH10 196385 genome.wustl.edu 37 12 124333349 124333349 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_207437.3 +1 validated p.D1890N 1.000 250 0% 403 32.5% 0 - benign(0.089) tolerated(0.15) neutral(0.247) HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH10 196385 genome.wustl.edu 37 12 124352046 124352046 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_207437.3 +1 validated p.E2282D 0.956 182 0% 320 38.1% 0 - benign(0.003) tolerated(0.63) neutral(0.004) NULL DNAH10 196385 genome.wustl.edu 37 12 124362347 124362347 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_207437.3 +1 validated p.K2637T 0.377 174 0% 300 33% 0 - benign(0.004) tolerated(0.24) neutral(0.037) superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH10 196385 genome.wustl.edu 37 12 124408892 124408892 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_207437.3 +1 validated p.E3775 1.000 153 0% 215 34.9% 0 - - - - HMMPfam_Dynein_heavy NCOR2 9612 genome.wustl.edu 37 12 124841219 124841219 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006312.3 -1 validated p.P1077 0.222 33 0% 79 32.9% 33 45.4% - - - NULL TMEM132B 114795 genome.wustl.edu 37 12 126138876 126138876 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_052907.2 +1 provisional p.E953* 1.000 137 0% 148 27.7% 1 0% - - - NULL SLC15A4 121260 genome.wustl.edu 37 12 129283882 129283882 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145648.3 -1 validated p.G499R 1.000 102 0% 169 38.5% 20 20% probably_damaging(1) deleterious(0) deleterious(0.945) PatternScan_MULTICOPPER_OXIDASE1,superfamily_MFS general substrate transporter TMEM132D 121256 genome.wustl.edu 37 12 129822313 129822313 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_133448.2 -1 validated p.E389* 0.710 51 0% 44 27.3% 0 - - - - NULL PIWIL1 9271 genome.wustl.edu 37 12 130831058 130831058 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004764.3 +1 reviewed p.E154K 1.000 175 0% 223 35% 0 - benign(0.347) tolerated(0.46) neutral(0.122) superfamily_PAZ domain PIWIL1 9271 genome.wustl.edu 37 12 130834455 130834455 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004764.3 +1 reviewed p.K329N 0.974 141 0% 186 34.9% 2 50% benign(0.001) tolerated(0.45) neutral(0.012) HMMPfam_PAZ,superfamily_PAZ domain GPR133 283383 genome.wustl.edu 37 12 131561348 131561348 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198827.3 +1 validated p.T492 0.004 79 0% 129 31% 0 - - - - NULL GPR133 283383 genome.wustl.edu 37 12 131605455 131605455 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198827.3 +1 validated p.I724 0.214 129 0% 175 38.3% 0 - - - - HMMPfam_7tm_2 MMP17 4326 genome.wustl.edu 37 12 132322761 132322761 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016155.4 +1 reviewed p.Y61H 1.000 34 0% 28 35.7% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PG_binding_1,superfamily_PGBD-like P2RX2 22953 genome.wustl.edu 37 12 133197859 133197859 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_170683.2 +1 reviewed p.K308 0.000 63 0% 94 34% 0 - - - - HMMPfam_P2X_receptor POLE 5426 genome.wustl.edu 37 12 133241911 133241911 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006231.2 -1 validated p.F815L 1.000 78 0% 100 35% 9 22.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DNA_pol_B,HMMSmart_POLBc,superfamily_SSF56672 POLE 5426 genome.wustl.edu 37 12 133253184 133253184 + Missense_Mutation SNP G G C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006231.2 -1 validated p.P286R 1.000 113 0% 170 30.6% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DNA_pol_B_exo,HMMSmart_POLBc,superfamily_RNaseH_fold ZNF10 7556 genome.wustl.edu 37 12 133732297 133732297 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015394.4 +1 reviewed p.K155N 1.000 147 0% 273 35.2% 2 100% possibly_damaging(0.877) tolerated(0.42) neutral(0.356) NULL ZNF268 10795 genome.wustl.edu 37 12 133764634 133764634 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003415.2 +1 validated p.E70 0.002 106 0% 131 21.4% 1 0% - - - NULL ZNF268 10795 genome.wustl.edu 37 12 133779747 133779747 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003415.2 +1 validated p.R492I 1.000 104 0% 92 30.4% 3 0% probably_damaging(1) tolerated(0.18) deleterious(0.556) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers TPTE2 93492 genome.wustl.edu 37 13 20024439 20024439 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_199254.2 -1 validated p.R283I 0.705 258 0% 241 32.8% 0 - possibly_damaging(0.618) tolerated(0.14) neutral(0.465) superfamily_(Phosphotyrosine protein) phosphatases II TPTE2 93492 genome.wustl.edu 37 13 20049725 20049725 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_199254.2 -1 validated p.S73F 0.064 115 0% 135 29.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Voltage-gated potassium channels ZMYM2 7750 genome.wustl.edu 37 13 20656935 20656935 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003453.2 +1 validated p.R1195* 1.000 72 0% 150 38% 44 25% - - - NULL GJB2 2706 genome.wustl.edu 37 13 20763271 20763271 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004004.5 -1 reviewed p.F150L 1.000 104 0% 147 34.7% 31 25.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Connexin_CCC N6AMT2 221143 genome.wustl.edu 37 13 21306205 21306205 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_174928.1 -1 provisional p.E95* 0.350 106 0% 207 36.7% 1 0% - - - HMMPfam_DPPF N6AMT2 221143 genome.wustl.edu 37 13 21311878 21311878 + Missense_Mutation SNP C C G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_174928.1 -1 provisional p.V71L 0.618 90 0% 131 30.5% 3 33.3% benign(0.001) tolerated(0.31) neutral(0.027) HMMPfam_DPPF XPO4 64328 genome.wustl.edu 37 13 21370950 21370950 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022459.4 -1 validated p.E857* 1.000 96 0% 109 31.2% 0 - - - - superfamily_ARM-type_fold XPO4 64328 genome.wustl.edu 37 13 21383304 21383304 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022459.4 -1 validated p.R471* 1.000 143 0.7% 201 32.3% 3 66.6% - - - superfamily_ARM-type_fold XPO4 64328 genome.wustl.edu 37 13 21395946 21395946 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022459.4 -1 validated p.R357L 1.000 223 0% 369 36.9% 1 100% benign(0.12) tolerated(0.33) neutral(0.034) superfamily_ARM-type_fold LATS2 26524 genome.wustl.edu 37 13 21620000 21620000 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014572.2 -1 reviewed p.D56Y 1.000 163 0% 248 37.1% 6 33.3% possibly_damaging(0.762) deleterious(0) deleterious(0.727) NULL SKA3 221150 genome.wustl.edu 37 13 21746603 21746603 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000314759 -1 known p.N69T 0.965 86 0% 170 34.7% 4 100% benign(0) tolerated(0.3) neutral(0.029) NULL SGCG 6445 genome.wustl.edu 37 13 23777890 23777890 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000231.2 +1 reviewed p.E19D 1.000 268 0% 377 35% 0 - benign(0.273) tolerated(0.33) neutral(0.053) NULL SACS 26278 genome.wustl.edu 37 13 23907329 23907329 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014363.4 -1 reviewed p.F3562L 1.000 103 0% 88 27.3% 1 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL SACS 26278 genome.wustl.edu 37 13 23910132 23910132 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014363.4 -1 reviewed p.S2628Y 1.000 195 0% 149 32.9% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase SACS 26278 genome.wustl.edu 37 13 23910760 23910760 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014363.4 -1 reviewed p.E2419K 1.000 146 0% 65 35.4% 0 - benign(0.133) tolerated(0.17) neutral(0.070) NULL SACS 26278 genome.wustl.edu 37 13 23911754 23911754 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014363.4 -1 reviewed p.E2087 0.964 44 0% 59 40.7% 1 0% - - - NULL SACS 26278 genome.wustl.edu 37 13 23912751 23912751 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014363.4 -1 reviewed p.K1755T 1.000 150 0% 125 32% 0 - benign(0.109) tolerated(0.12) neutral(0.269) NULL SACS 26278 genome.wustl.edu 37 13 23915089 23915089 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014363.4 -1 reviewed p.R976C 1.000 109 0% 108 28.7% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL SACS 26278 genome.wustl.edu 37 13 23915369 23915369 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014363.4 -1 reviewed p.K882N 1.000 241 0% 249 24.1% 0 - benign(0.001) tolerated(0.33) neutral(0.024) NULL SACS 26278 genome.wustl.edu 37 13 23930115 23930115 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000455470 -1 known p.R112W 1.000 91 0% 139 33.1% 0 - - - - superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase MIPEP 4285 genome.wustl.edu 37 13 24444223 24444223 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005932.2 -1 reviewed p.R239C 0.687 145 0% 211 30.3% 16 56.2% probably_damaging(0.994) deleterious(0) deleterious(0.897) superfamily_SSF55486 C1QTNF9B 387911 genome.wustl.edu 37 13 24465598 24465598 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001007537.1 -1 provisional p.D278Y 1.000 247 0% 416 36.1% 6 16.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_C1q,HMMSmart_SM00110,superfamily_TNF-like ANKRD20A19P 400110 genome.wustl.edu 37 13 24515473 24515473 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_001715330.2 -1 model p.K212E 0.001 80 0% 154 42.2% 0 - - - - HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat ATP12A 479 genome.wustl.edu 37 13 25255774 25255774 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001676.5 +1 reviewed p.K28N 0.949 114 0% 242 30.6% 0 - possibly_damaging(0.772) tolerated(0.1) deleterious(0.573) NULL ATP12A 479 genome.wustl.edu 37 13 25272961 25272961 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001676.5 +1 reviewed p.L560M 1.000 73 0% 124 41.9% 0 - probably_damaging(0.999) tolerated(0.09) deleterious(0.787) HMMPfam_Hydrolase,superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N,superfamily_Calcium ATPase transmembrane domain M ATP12A 479 genome.wustl.edu 37 13 25280477 25280477 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001676.5 +1 reviewed p.G682D 1.000 126 0% 178 34.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Hydrolase,superfamily_HAD-like,superfamily_Calcium ATPase transmembrane domain M ATP12A 479 genome.wustl.edu 37 13 25281474 25281474 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001676.5 +1 reviewed p.I799S 1.000 238 0% 387 33.9% 0 - probably_damaging(0.994) deleterious(0.03) deleterious(0.817) superfamily_Calcium ATPase transmembrane domain M RNF17 56163 genome.wustl.edu 37 13 25362263 25362263 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031277.2 +1 reviewed p.S250L 0.740 88 0% 55 30.9% 0 - benign(0.026) deleterious(0.02) neutral(0.384) NULL RNF17 56163 genome.wustl.edu 37 13 25417895 25417895 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031277.2 +1 reviewed p.D873Y 0.988 107 0% 89 27% 0 - possibly_damaging(0.931) deleterious(0.01) deleterious(0.783) NULL RNF17 56163 genome.wustl.edu 37 13 25418797 25418797 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031277.2 +1 reviewed p.E947* 1.000 179 0% 259 32.4% 0 - - - - HMMPfam_TUDOR RNF17 56163 genome.wustl.edu 37 13 25424529 25424529 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031277.2 +1 reviewed p.S1051* 1.000 179 0% 260 31.2% 0 - - - - NULL FAM123A 219287 genome.wustl.edu 37 13 25744542 25744542 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152704.2 -1 validated p.P406S 0.993 43 0% 53 41.5% 0 - benign(0.312) tolerated(0.13) neutral(0.350) HMMPfam_WTX ATP8A2 51761 genome.wustl.edu 37 13 26104781 26104781 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016529.4 +1 validated p.E135K 1.000 251 0% 227 25.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_E1-E2_ATPase ATP8A2 51761 genome.wustl.edu 37 13 26125475 26125475 + Splice_Site SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016529.4 +1 validated e11-1 1.000 198 0.5% 354 34.2% 0 - - - - - RNF6 6049 genome.wustl.edu 37 13 26788304 26788304 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005977.3 -1 reviewed p.R572Q 0.076 136 0% 168 33.3% 15 46.6% benign(0.001) tolerated(0.09) neutral(0.296) NULL WASF3 10810 genome.wustl.edu 37 13 27246057 27246057 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006646.5 +1 reviewed p.F157L 1.000 163 0% 255 32.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL USP12 219333 genome.wustl.edu 37 13 27649407 27649407 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182488.2 -1 provisional p.R285C 1.000 133 0% 225 29.3% 2 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UCH,superfamily_SSF54001 RPL21 6144 genome.wustl.edu 37 13 27829397 27829397 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000982.3 +1 reviewed p.K50Q 1.000 204 0% 381 39.1% 384 43.2% possibly_damaging(0.924) deleterious(0.01) deleterious(0.778) HMMPfam_Ribosomal_L21e,superfamily_Translation proteins SH3-like domain,PatternScan_RIBOSOMAL_L21E RASL11A 387496 genome.wustl.edu 37 13 27847448 27847448 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_206827.1 +1 provisional p.Y182 0.474 65 0% 145 31% 4 0% - - - superfamily_SSF52540 MTIF3 219402 genome.wustl.edu 37 13 28009825 28009825 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152912.4 -1 reviewed p.V275A 0.000 266 0.4% 385 27.5% 36 33.3% possibly_damaging(0.702) deleterious(0.01) deleterious(0.658) NULL LNX2 222484 genome.wustl.edu 37 13 28141902 28141902 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153371.3 -1 validated p.Q244K 0.999 253 0% 283 31.8% 9 44.4% benign(0.017) tolerated(0.62) neutral(0.005) HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ FLT1 2321 genome.wustl.edu 37 13 29008038 29008038 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002019.4 -1 reviewed p.R244I 0.008 181 0% 230 35.2% 4 0% possibly_damaging(0.847) tolerated(0.09) deleterious(0.621) HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Immunoglobulin MTUS2 23281 genome.wustl.edu 37 13 30014172 30014172 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001033602.2 +1 validated p.I1067S 1.000 227 0% 301 30.6% 2 100% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL KATNAL1 84056 genome.wustl.edu 37 13 30857784 30857784 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001014380.1 -1 validated p.R44K 1.000 301 0% 361 32.7% 0 - probably_damaging(0.974) tolerated(0.63) neutral(0.419) NULL USPL1 10208 genome.wustl.edu 37 13 31233381 31233381 + Missense_Mutation SNP C C T rs148894312 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005800.4 +1 validated p.P1056L 0.010 165 0% 214 33.2% 11 9% possibly_damaging(0.883) deleterious(0.01) deleterious(0.750) NULL ALOX5AP 241 genome.wustl.edu 37 13 31326240 31326240 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001629.2 +1 reviewed p.A74 0.013 372 0.3% 613 36.7% 15 0% - - - HMMPfam_MAPEG C13orf33 84935 genome.wustl.edu 37 13 31491631 31491631 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032849.3 +1 validated p.K124E 0.057 197 0% 244 34% 1 0% benign(0) tolerated(0.18) neutral(0.056) NULL C13orf33 84935 genome.wustl.edu 37 13 31498456 31498456 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032849.3 +1 validated p.D266Y 1.000 254 0% 377 34.2% 3 0% - - - NULL HSPH1 10808 genome.wustl.edu 37 13 31725284 31725284 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000439123 -1 known p.R89* 1.000 224 0% 139 33.1% 66 45.4% - - - NULL RXFP2 122042 genome.wustl.edu 37 13 32340095 32340095 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_130806.3 +1 reviewed p.S143Y 1.000 209 0% 136 27.9% 0 - benign(0.334) tolerated(1) neutral(0.105) HMMSmart_SM00369,superfamily_L domain-like RXFP2 122042 genome.wustl.edu 37 13 32349504 32349504 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_130806.3 +1 reviewed p.D207Y 1.000 302 0% 301 28.6% 0 - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like RXFP2 122042 genome.wustl.edu 37 13 32360739 32360739 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_130806.3 +1 reviewed p.K346N 0.992 263 0% 213 28.6% 0 - benign(0.045) tolerated(0.58) neutral(0.007) HMMSmart_SM00369,superfamily_L domain-like RXFP2 122042 genome.wustl.edu 37 13 32365959 32365959 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_130806.3 +1 reviewed p.R388* 1.000 325 0% 430 28.4% 0 - - - - superfamily_L domain-like,superfamily_Family A G protein-coupled receptor-like FRY 10129 genome.wustl.edu 37 13 32749726 32749726 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_023037.2 +1 validated p.S793Y 1.000 306 0% 366 30.3% 0 - benign(0.412) deleterious(0) deleterious(0.578) NULL FRY 10129 genome.wustl.edu 37 13 32799169 32799169 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_023037.2 +1 validated p.F1672L 1.000 292 0% 347 34.9% 1 0% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL BRCA2 675 genome.wustl.edu 37 13 32907059 32907059 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000059.3 +1 reviewed p.L482I 0.000 68 0% 78 42.3% 0 - benign(0.004) tolerated(0.42) neutral(0.014) NULL BRCA2 675 genome.wustl.edu 37 13 32913198 32913198 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000059.3 +1 reviewed p.Y1569C 0.013 27 0% 66 25.8% 0 - possibly_damaging(0.924) deleterious(0.01) deleterious(0.778) NULL BRCA2 675 genome.wustl.edu 37 13 32914550 32914550 + Missense_Mutation SNP G G A rs80358842 TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000059.3 +1 reviewed p.E2020K 0.000 53 0% 51 25.5% 0 - probably_damaging(0.978) tolerated(0.07) deleterious(0.740) NULL BRCA2 675 genome.wustl.edu 37 13 32945129 32945129 + Missense_Mutation SNP C C T rs80359104 TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000059.3 +1 reviewed p.R2842C 1.000 110 0% 159 23.3% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Tower,superfamily_Nucleic_acid_OB,superfamily_SSF81878 N4BP2L2 10443 genome.wustl.edu 37 13 33016894 33016894 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033111.3 -1 validated p.Y594D 0.000 39 0% 73 32.9% 13 38.4% possibly_damaging(0.776) tolerated(0.35) neutral(0.310) NULL N4BP2L2 10443 genome.wustl.edu 37 13 33017158 33017158 + Missense_Mutation SNP G G A rs17077569 byCluster;byFrequency;by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033111.3 -1 validated p.R506C 0.000 287 0.7% 491 28.3% 8 50% benign(0.016) tolerated(0.13) neutral(0.253) NULL PDS5B 23047 genome.wustl.edu 37 13 33250043 33250043 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015032.3 +1 reviewed p.K303N 1.000 221 0% 226 35.8% 1 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_ARM repeat PDS5B 23047 genome.wustl.edu 37 13 33316753 33316753 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015032.3 +1 reviewed p.R834* 1.000 202 0% 220 28.2% 4 25% - - - superfamily_ARM repeat PDS5B 23047 genome.wustl.edu 37 13 33344892 33344892 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015032.3 +1 reviewed p.K1389Q 0.947 149 0% 228 33.8% 9 44.4% unknown(0) tolerated(0.25) - NULL KL 9365 genome.wustl.edu 37 13 33635692 33635692 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004795.3 +1 reviewed p.D826Y 0.026 116 0% 199 30.7% 0 - possibly_damaging(0.682) tolerated(0.06) deleterious(0.566) HMMPfam_Glyco_hydro_1,superfamily_(Trans)glycosidases KL 9365 genome.wustl.edu 37 13 33638011 33638011 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004795.3 +1 reviewed p.L909 0.705 228 0% 256 35.2% 0 - - - - HMMPfam_Glyco_hydro_1,superfamily_(Trans)glycosidases STARD13 90627 genome.wustl.edu 37 13 33692366 33692366 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178006.3 -1 validated p.R706Q 1.000 140 0% 146 33.6% 5 0% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP NBEA 26960 genome.wustl.edu 37 13 35782974 35782974 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015678.4 +1 validated p.S1835I 1.000 118 0% 81 35.8% 0 - possibly_damaging(0.543) deleterious(0) deleterious(0.629) superfamily_ARM repeat NBEA 26960 genome.wustl.edu 37 13 36125116 36125116 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015678.4 +1 validated p.V2251 0.982 212 0% 209 30.1% 1 0% - - - superfamily_ARM repeat,superfamily_PH domain-like NBEA 26960 genome.wustl.edu 37 13 36129196 36129196 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015678.4 +1 validated p.E2293D 1.000 213 0% 193 35.2% 1 0% possibly_damaging(0.747) deleterious(0.01) deleterious(0.679) HMMPfam_Beach,superfamily_BEACH domain,superfamily_ARM repeat DCLK1 9201 genome.wustl.edu 37 13 36348746 36348746 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000360631 -1 known p.E717K 1.000 98 0% 129 38.8% 2 100% benign(0.076) tolerated(0.05) neutral(0.351) NULL DCLK1 9201 genome.wustl.edu 37 13 36700097 36700097 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004734.3 -1 validated p.R60C 1.000 86 0% 122 31.1% 4 25% possibly_damaging(0.548) deleterious(0) deleterious(0.631) HMMSmart_DCX,superfamily_SSF89837 CCDC169 728591 genome.wustl.edu 37 13 36822757 36822757 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001144981.1 -1 validated p.E177D 0.997 174 0% 133 34.6% 0 - possibly_damaging(0.945) deleterious(0) deleterious(0.834) NULL SPG20 23111 genome.wustl.edu 37 13 36903576 36903576 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142294.1 -1 reviewed p.E363* 0.584 449 0% 648 36% 19 10.5% - - - NULL CCNA1 8900 genome.wustl.edu 37 13 37012892 37012892 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003914.3 +1 reviewed p.R261* 0.047 153 0% 168 37.5% 6 0% - - - HMMSmart_SM00385,HMMPfam_Cyclin_N,PatternScan_CYCLINS,superfamily_Cyclin-like RFXAP 5994 genome.wustl.edu 37 13 37394091 37394091 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000538.3 +1 reviewed p.L199 0.992 41 0% 66 27.3% 6 50% - - - NULL SMAD9 4093 genome.wustl.edu 37 13 37441423 37441423 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001127217.2 -1 reviewed p.S256 0.013 155 0% 268 31% 0 - - - - superfamily_SMAD/FHA domain SMAD9 4093 genome.wustl.edu 37 13 37447042 37447042 + Silent SNP A A T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001127217.2 -1 reviewed p.P141 0.016 167 0% 260 34.6% 1 0% - - - NULL FAM48A 55578 genome.wustl.edu 37 13 37583813 37583813 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001014286.2 -1 validated p.F779C 0.998 221 0% 291 36.8% 88 44.3% unknown(0) deleterious(0) - NULL POSTN 10631 genome.wustl.edu 37 13 38154004 38154004 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006475.2 -1 validated p.L552M 0.998 231 0.9% 290 30.7% 48 10.4% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Fasciclin,HMMSmart_SM00554,superfamily_FAS1 domain FREM2 341640 genome.wustl.edu 37 13 39265449 39265449 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_207361.4 +1 reviewed p.N1323T 0.973 153 0% 172 37.8% 1 0% benign(0) tolerated(1) - NULL FREM2 341640 genome.wustl.edu 37 13 39448622 39448622 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_207361.4 +1 reviewed p.S2727Y 0.935 188 0% 217 39.2% 4 25% benign(0.016) tolerated(0.93) neutral(0.001) NULL STOML3 161003 genome.wustl.edu 37 13 39564825 39564825 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145286.2 -1 validated p.D12Y 0.693 273 0% 326 29.1% 0 - benign(0.051) deleterious(0.01) neutral(0.409) NULL PROSER1 80209 genome.wustl.edu 37 13 39588588 39588588 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025138.3 -1 validated p.L267 0.997 216 0.5% 417 34.8% 25 40% - - - NULL PROSER1 80209 genome.wustl.edu 37 13 39591665 39591665 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025138.3 -1 validated p.S249 0.818 181 0% 164 31.1% 18 61.1% - - - NULL PROSER1 80209 genome.wustl.edu 37 13 39598627 39598627 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025138.3 -1 validated p.L183I 1.000 292 0% 201 36.3% 19 47.3% probably_damaging(0.971) tolerated(0.3) neutral(0.442) NULL MRPS31 10240 genome.wustl.edu 37 13 41345204 41345204 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005830.3 -1 reviewed p.S23 0.002 40 0% 141 44% 6 0% - - - NULL ELF1 1997 genome.wustl.edu 37 13 41515330 41515330 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_172373.3 -1 reviewed p.R328Q 0.974 271 0% 340 31.2% 13 30.7% possibly_damaging(0.756) tolerated(0.58) neutral(0.284) NULL ELF1 1997 genome.wustl.edu 37 13 41525537 41525537 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_172373.3 -1 reviewed p.E97* 1.000 88 0% 114 30.7% 12 25% - - - NULL WBP4 11193 genome.wustl.edu 37 13 41654879 41654879 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007187.3 +1 reviewed p.S285L 0.838 102 0% 180 31.7% 11 18.1% benign(0.001) tolerated(0.17) neutral(0.059) NULL KBTBD6 89890 genome.wustl.edu 37 13 41704831 41704831 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152903.4 -1 validated p.Q606R 1.000 207 0% 486 38.5% 2 0% benign(0.4) deleterious(0.03) deleterious(0.493) NULL NAA16 79612 genome.wustl.edu 37 13 41943243 41943243 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024561.4 +1 validated p.E591* 1.000 187 0% 219 28.8% 1 100% - - - superfamily_TPR-like KIAA0564 23078 genome.wustl.edu 37 13 42293879 42293879 + Splice_Site SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015058.1 -1 validated e26-1 1.000 181 0% 99 39.4% 0 - - - - - KIAA0564 23078 genome.wustl.edu 37 13 42465557 42465557 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015058.1 -1 validated p.R217Q 1.000 157 0% 154 32.5% 1 0% benign(0) tolerated(0.57) neutral(0.006) HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases DGKH 160851 genome.wustl.edu 37 13 42773954 42773954 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178009.2 +1 reviewed p.R801Q 1.000 118 0% 165 30.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DAGK_acc,HMMSmart_SM00045 TNFSF11 8600 genome.wustl.edu 37 13 43155327 43155327 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003701.3 +1 reviewed p.E95D 0.348 142 0% 172 36.6% 0 - benign(0.418) deleterious(0.03) deleterious(0.500) NULL TNFSF11 8600 genome.wustl.edu 37 13 43180773 43180773 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003701.3 +1 reviewed p.H225N 1.000 189 0% 267 36.3% 0 - probably_damaging(0.999) tolerated(0.2) deleterious(0.539) HMMPfam_TNF,HMMSmart_SM00207,superfamily_TNF-like TSC22D1 8848 genome.wustl.edu 37 13 45147544 45147544 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000486464 -1 known p.D39N 0.963 106 0% 151 31.1% 26 46.1% - - - NULL COG3 83548 genome.wustl.edu 37 13 46083907 46083907 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031431.2 +1 reviewed p.R559* 1.000 189 0% 324 36.4% 8 0% - - - NULL FAM194B 220081 genome.wustl.edu 37 13 46135623 46135623 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182542.2 -1 predicted p.L430V 0.000 414 0% 558 32.1% 0 - possibly_damaging(0.945) deleterious(0) deleterious(0.834) NULL FAM194B 220081 genome.wustl.edu 37 13 46170583 46170583 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182542.2 -1 predicted p.E186D 0.001 409 0% 502 36.1% 0 - possibly_damaging(0.741) tolerated(0.14) deleterious(0.521) NULL ZC3H13 23091 genome.wustl.edu 37 13 46541939 46541939 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015070.3 -1 validated p.R1341* 0.982 610 0% 592 31.8% 14 21.4% - - - NULL CPB2 1361 genome.wustl.edu 37 13 46641446 46641446 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001872.3 -1 reviewed p.K233R 1.000 247 0% 270 24.8% 0 - benign(0.126) deleterious(0.02) neutral(0.394) HMMPfam_Peptidase_M14,HMMSmart_SM00631,superfamily_Zn-dependent exopeptidases KIAA0226L 80183 genome.wustl.edu 37 13 46923481 46923481 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025113.2 -1 validated p.E524G 0.991 82 0% 152 32.9% 2 100% possibly_damaging(0.795) tolerated(0.32) neutral(0.323) NULL NUDT15 55270 genome.wustl.edu 37 13 48615227 48615227 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018283.1 +1 provisional p.K110N 1.000 119 0% 157 29.3% 9 33.3% benign(0.213) tolerated(0.14) neutral(0.271) HMMPfam_NUDIX,superfamily_Nudix RB1 5925 genome.wustl.edu 37 13 48916752 48916752 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000321.2 +1 reviewed p.K94N 1.000 105 0% 106 33% 1 0% benign(0.068) tolerated(0.24) neutral(0.042) NULL RB1 5925 genome.wustl.edu 37 13 49030385 49030385 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000321.2 +1 reviewed p.T620 0.620 199 0% 230 35.2% 10 30% - - - NULL CYSLTR2 57105 genome.wustl.edu 37 13 49281064 49281064 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020377.2 +1 reviewed p.K37N 0.016 187 0% 133 32.3% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_Family A G protein-coupled receptor-like CAB39L 81617 genome.wustl.edu 37 13 49924940 49924940 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001079670.1 -1 validated p.F168L 1.000 135 0% 188 11.7% 5 0% possibly_damaging(0.523) deleterious(0.03) deleterious(0.541) HMMPfam_Mo25,superfamily_ARM-type_fold SETDB2 83852 genome.wustl.edu 37 13 50062690 50062690 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031915.2 +1 validated p.S626Y 0.002 84 0% 105 37.1% 17 47% probably_damaging(0.958) deleterious(0) deleterious(0.846) HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain INTS6 26512 genome.wustl.edu 37 13 51950259 51950259 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012141.2 -1 reviewed p.L552I 1.000 247 0% 266 28.6% 7 57.1% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ALG11 440138 genome.wustl.edu 37 13 52598175 52598175 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004127.1 +1 provisional p.G103 0.027 161 0% 298 33.9% 2 0% - - - superfamily_SSF53756 ALG11 440138 genome.wustl.edu 37 13 52602604 52602604 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004127.1 +1 provisional p.L453I 1.000 103 0% 138 37% 9 22.2% possibly_damaging(0.911) tolerated(0.38) neutral(0.381) HMMPfam_Glycos_transf_1,superfamily_SSF53756 NEK5 341676 genome.wustl.edu 37 13 52650264 52650264 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_199289.1 -1 provisional p.L555V 1.000 308 0% 389 24.9% 0 - possibly_damaging(0.494) deleterious(0) deleterious(0.609) NULL CKAP2 26586 genome.wustl.edu 37 13 53049109 53049109 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001098525.1 +1 validated p.R629* 0.795 91 0% 132 32.6% 31 45.1% - - - NULL PCDH17 27253 genome.wustl.edu 37 13 58299080 58299080 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001040429.2 +1 reviewed p.I1044 0.106 121 0% 102 25.5% 1 0% - - - NULL LOC341689 341689 genome.wustl.edu 37 13 59104179 59104179 + RNA SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XR_017487.3 +1 model NULL 0.044 66 0% 80 26.3% 0 - - - - - DIAPH3 81624 genome.wustl.edu 37 13 60453483 60453483 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001042517.1 -1 validated p.E829D 1.000 176 0% 159 37.7% 13 53.8% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMSmart_SM00498,HMMPfam_FH2,superfamily_Formin homology 2 domain (FH2 domain) DIAPH3 81624 genome.wustl.edu 37 13 60545034 60545034 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001042517.1 -1 validated p.K637N 1.000 140 0% 120 45% 6 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00498,HMMPfam_FH2,superfamily_Formin homology 2 domain (FH2 domain) TDRD3 81550 genome.wustl.edu 37 13 61102603 61102603 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030794.2 +1 validated p.R322Q 1.000 92 0% 91 34.1% 1 100% probably_damaging(0.998) tolerated(0.19) deleterious(0.524) NULL LOC390407 390407 genome.wustl.edu 37 13 61211967 61211967 + RNA SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XR_078475.1 -1 model NULL 1.000 34 0% 72 29.2% 0 - - - - - PCDH20 64881 genome.wustl.edu 37 13 61985666 61985666 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022843.3 -1 validated p.L856I 1.000 151 0% 120 31.7% 0 - probably_damaging(0.99) deleterious(0.02) deleterious(0.825) NULL PCDH20 64881 genome.wustl.edu 37 13 61986483 61986483 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022843.3 -1 validated p.S583 0.627 187 0% 221 35.3% 0 - - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDH20 64881 genome.wustl.edu 37 13 61987641 61987641 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022843.3 -1 validated p.I197 0.999 71 0% 94 31.9% 1 0% - - - PatternScan_CADHERIN_1 PCDH9 5101 genome.wustl.edu 37 13 67799911 67799911 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_203487.2 -1 reviewed p.E888K 1.000 114 0% 117 29.1% 9 33.3% probably_damaging(0.974) tolerated(0.14) deleterious(0.665) HMMPfam_Protocadherin PCDH9 5101 genome.wustl.edu 37 13 67800764 67800764 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_203487.2 -1 reviewed p.E603D 0.998 112 0% 115 35.7% 8 50% benign(0.067) tolerated(0.26) neutral(0.038) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like DIS3 22894 genome.wustl.edu 37 13 73343019 73343019 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014953.3 -1 validated p.R596I 1.000 200 0% 245 31.8% 15 53.3% benign(0.014) tolerated(0.19) neutral(0.050) HMMPfam_RNB TBC1D4 9882 genome.wustl.edu 37 13 75880452 75880452 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014832.2 -1 validated p.E917* 1.000 150 0% 93 39.8% 4 0% - - - HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p TBC1D4 9882 genome.wustl.edu 37 13 75930289 75930289 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014832.2 -1 validated p.E423D 0.998 84 0% 83 30.1% 1 0% probably_damaging(0.997) tolerated(0.05) deleterious(0.811) HMMPfam_PID,HMMSmart_SM00462,superfamily_PH domain-like TBC1D4 9882 genome.wustl.edu 37 13 75933987 75933987 + Missense_Mutation SNP C C T rs150208730 TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014832.2 -1 validated p.R363Q 1.000 144 0% 140 25.7% 0 - probably_damaging(1) tolerated(0.42) deleterious(0.514) HMMPfam_PID,HMMSmart_SM00462,superfamily_PH domain-like TBC1D4 9882 genome.wustl.edu 37 13 75936395 75936395 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014832.2 -1 validated p.G283W 0.000 39 0% 48 33.3% 2 0% benign(0.146) deleterious(0.03) neutral(0.377) HMMPfam_PID,HMMSmart_SM00462,superfamily_PH domain-like LMO7 4008 genome.wustl.edu 37 13 76378496 76378496 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015842.2 +1 reviewed p.R12* 1.000 176 0% 194 32.5% 11 27.2% - - - NULL MYCBP2 23077 genome.wustl.edu 37 13 77642872 77642872 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015057.4 -1 validated p.S3962Y 1.000 325 0% 392 32.9% 7 14.2% probably_damaging(0.981) deleterious(0.01) deleterious(0.831) NULL MYCBP2 23077 genome.wustl.edu 37 13 77754433 77754433 + Silent SNP C C T rs61753811 TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015057.4 -1 validated p.G1616 0.283 129 0% 120 32.5% 0 - - - - NULL MYCBP2 23077 genome.wustl.edu 37 13 77834691 77834691 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015057.4 -1 validated p.K592T 1.000 293 0% 232 38.4% 2 100% probably_damaging(0.995) deleterious(0) deleterious(0.902) superfamily_RCC1/BLIP-II SCEL 8796 genome.wustl.edu 37 13 78167696 78167696 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144777.2 +1 validated p.R247I 0.991 345 0% 287 34.8% 0 - possibly_damaging(0.667) deleterious(0) deleterious(0.680) NULL SCEL 8796 genome.wustl.edu 37 13 78202117 78202117 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144777.2 +1 validated p.S555Y 0.927 91 0% 67 22.4% 2 100% benign(0.004) tolerated(0.18) neutral(0.056) NULL POU4F1 5457 genome.wustl.edu 37 13 79175696 79175696 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006237.3 -1 validated p.A372S 1.000 99 0% 100 38% 2 100% probably_damaging(0.998) tolerated(0.14) deleterious(0.724) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like RNF219 79596 genome.wustl.edu 37 13 79190282 79190282 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024546.3 -1 validated p.I538 1.000 113 0% 149 33.6% 7 42.8% - - - NULL RNF219 79596 genome.wustl.edu 37 13 79216295 79216295 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024546.3 -1 validated p.R88W 1.000 319 0% 366 26.8% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SLITRK1 114798 genome.wustl.edu 37 13 84454061 84454061 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_052910.1 -1 reviewed p.G528R 1.000 68 0% 128 31.2% 0 - benign(0.025) deleterious(0.05) neutral(0.346) superfamily_SSF52058 SLITRK6 84189 genome.wustl.edu 37 13 86370523 86370523 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032229.2 -1 validated p.D41Y 1.000 98 0% 59 37.3% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_L domain-like SLITRK5 26050 genome.wustl.edu 37 13 88328362 88328362 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015567.1 +1 validated p.S240Y 1.000 103 0% 124 20.2% 1 0% probably_damaging(0.953) deleterious(0) deleterious(0.841) HMMSmart_SM00082,superfamily_L domain-like MIR622 693207 genome.wustl.edu 37 13 90883494 90883494 + RNA SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000385123 +1 known NULL 0.035 54 0% 129 34.9% 0 - - - - - GPC5 2262 genome.wustl.edu 37 13 92345718 92345718 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004466.4 +1 reviewed p.V201 0.257 115 0% 104 36.5% 0 - - - - HMMPfam_Glypican SOX21 11166 genome.wustl.edu 37 13 95364217 95364217 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007084.2 -1 validated p.E29D 1.000 74 0% 92 43.5% 12 83.3% possibly_damaging(0.663) tolerated(0.17) neutral(0.293) HMMPfam_HMG_box,HMMSmart_SM00398,superfamily_HMG-box CLDN10 9071 genome.wustl.edu 37 13 96212691 96212691 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006984.4 +1 reviewed p.F146L 1.000 388 0% 551 34.1% 65 33.8% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_PMP22_Claudin DNAJC3 5611 genome.wustl.edu 37 13 96409925 96409925 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006260.3 +1 reviewed p.E141* 1.000 135 0% 133 29.3% 13 7.6% - - - superfamily_TPR-like DNAJC3 5611 genome.wustl.edu 37 13 96439344 96439344 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006260.3 +1 reviewed p.E431G 1.000 99 0% 147 38.8% 15 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_DnaJ,HMMSmart_SM00271,superfamily_Chaperone J-domain UGGT2 55757 genome.wustl.edu 37 13 96622456 96622456 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020121.3 -1 validated p.I415 0.003 169 0% 152 31.6% 1 0% - - - NULL IPO5 3843 genome.wustl.edu 37 13 98637734 98637734 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000469360 +1 known p.S79Y 0.998 129 0% 228 31.6% 25 60% - - - superfamily_ARM repeat RNF113B 140432 genome.wustl.edu 37 13 98829149 98829149 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178861.4 -1 validated p.F114 0.998 59 0% 52 30.8% 0 - - - - NULL STK24 8428 genome.wustl.edu 37 13 99115965 99115965 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000444574 -1 known p.E221K 0.997 156 0% 267 32.6% 60 70% - - - NULL STK24 8428 genome.wustl.edu 37 13 99127564 99127564 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003576.3 -1 validated p.E139* 1.000 232 0% 340 32.9% 42 2.3% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase STK24 8428 genome.wustl.edu 37 13 99171685 99171685 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003576.3 -1 validated p.K41E 1.000 261 0% 391 37.6% 13 61.5% benign(0.023) tolerated(0.48) neutral(0.011) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase DOCK9 23348 genome.wustl.edu 37 13 99505695 99505695 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000357329 -1 known p.C1306R 1.000 213 0% 328 36.9% 3 100% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL GPR18 2841 genome.wustl.edu 37 13 99907377 99907377 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001098200.1 -1 validated p.I250 0.998 135 0% 210 31.4% 3 33.3% - - - HMMPfam_7tm_1,superfamily_SSF81321 TM9SF2 9375 genome.wustl.edu 37 13 100196132 100196132 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004800.1 +1 provisional p.E345* 1.000 204 0% 250 31.2% 99 2% - - - HMMPfam_EMP70 CLYBL 171425 genome.wustl.edu 37 13 100515258 100515258 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000339105 +1 known p.F151C 1.000 181 0% 182 28% 1 0% benign(0.073) tolerated(0.05) neutral(0.350) HMMPfam_HpcH_HpaI,superfamily_Phosphoenolpyruvate/pyruvate domain NALCN 259232 genome.wustl.edu 37 13 101748006 101748006 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_052867.2 -1 validated p.I1063S 1.000 262 0% 135 40.7% 0 - benign(0.097) tolerated(0.17) neutral(0.067) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels NALCN 259232 genome.wustl.edu 37 13 102030939 102030939 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_052867.2 -1 validated p.W119C 1.000 214 0% 277 35% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels TPP2 7174 genome.wustl.edu 37 13 103292684 103292684 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003291.2 +1 reviewed p.R660* 1.000 324 0% 299 31.4% 5 20% - - - NULL LOC643677 643677 genome.wustl.edu 37 13 103385293 103385293 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002344085.1 -1 model p.P5766 0.000 211 0% 191 32.5% 0 - - - - NULL LOC643677 643677 genome.wustl.edu 37 13 103386357 103386357 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002344085.1 -1 model p.L5412M 0.000 136 0% 80 26.3% 0 - unknown(0) - - NULL LOC643677 643677 genome.wustl.edu 37 13 103388530 103388530 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002344085.1 -1 model p.F4687L 0.000 279 0% 204 30.9% 0 - benign(0.014) tolerated(0.31) neutral(0.028) NULL LOC643677 643677 genome.wustl.edu 37 13 103390528 103390528 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002344085.1 -1 model p.D4102 0.000 570 0% 476 31.3% 0 - - - - NULL LOC643677 643677 genome.wustl.edu 37 13 103391292 103391292 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002344085.1 -1 model p.D3848Y 0.000 221 0% 114 32.5% 0 - - - - NULL LOC643677 643677 genome.wustl.edu 37 13 103391831 103391831 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002344085.1 -1 model p.R3668I 0.989 130 0% 56 28.6% 0 - - - - NULL LOC643677 643677 genome.wustl.edu 37 13 103392120 103392120 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002344085.1 -1 model p.I3572L 0.000 422 0% 216 26.9% 0 - - - - NULL LOC643677 643677 genome.wustl.edu 37 13 103393746 103393746 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002344085.1 -1 model p.E3030* 0.001 82 0% 45 24.4% 0 - - - - NULL LOC643677 643677 genome.wustl.edu 37 13 103395890 103395890 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002344085.1 -1 model p.I2315S 0.000 221 0% 101 36.6% 0 - - - - NULL LOC643677 643677 genome.wustl.edu 37 13 103396718 103396718 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002344085.1 -1 model p.S2039Y 0.000 125 0% 57 33.3% 0 - - - - NULL LOC643677 643677 genome.wustl.edu 37 13 103402412 103402412 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002344085.1 -1 model p.S141Y 0.989 160 0% 103 26.2% 0 - - - - NULL LOC643677 643677 genome.wustl.edu 37 13 103411094 103411094 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002344085.1 -1 model p.K9N 0.144 72 0% 53 35.8% 0 - - - - NULL TEX30 93081 genome.wustl.edu 37 13 103418763 103418763 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138779.3 -1 validated p.K224N 1.000 227 0% 318 34.3% 23 47.8% benign(0.102) tolerated(0.24) neutral(0.045) NULL KDELC1 79070 genome.wustl.edu 37 13 103443320 103443320 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024089.2 -1 reviewed p.F338L 1.000 134 0% 176 29% 9 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_CAP10,HMMPfam_DUF821 BIVM 54841 genome.wustl.edu 37 13 103492015 103492015 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017693.3 +1 validated p.E438* 1.000 107 0% 140 32.1% 5 60% - - - NULL ERCC5 2073 genome.wustl.edu 37 13 103515050 103515050 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000123.2 +1 reviewed p.P517 0.000 103 0% 123 32.5% 12 25% - - - superfamily_PIN domain-like ERCC5 2073 genome.wustl.edu 37 13 103525642 103525642 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000123.2 +1 reviewed p.T971 0.008 94 0% 167 32.9% 41 34.1% - - - superfamily_5' to 3' exonuclease C-terminal subdomain SLC10A2 6555 genome.wustl.edu 37 13 103710651 103710651 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000452.2 -1 reviewed p.V153 0.007 108 0% 118 30.5% 0 - - - - HMMPfam_SBF SLC10A2 6555 genome.wustl.edu 37 13 103718340 103718340 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000452.2 -1 reviewed p.S87L 1.000 142 0% 157 31.2% 0 - benign(0.039) deleterious(0.04) neutral(0.351) HMMPfam_SBF DAOA 267012 genome.wustl.edu 37 13 106142414 106142414 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_172370.3 +1 reviewed p.S149Y 0.002 82 0% 74 24.3% 0 - possibly_damaging(0.604) deleterious(0) deleterious(0.654) NULL LOC390424 390424 genome.wustl.edu 37 13 107315926 107315926 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002344086.1 +1 model p.R48W 0.917 149 0% 190 34.2% 0 - - - - NULL LIG4 3981 genome.wustl.edu 37 13 108861953 108861953 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001098268.1 -1 reviewed p.V555G 1.000 194 0% 306 32% 2 50% probably_damaging(0.991) tolerated(0.31) deleterious(0.471) NULL LIG4 3981 genome.wustl.edu 37 13 108863483 108863483 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001098268.1 -1 reviewed p.S45Y 1.000 108 0% 66 30.3% 4 25% benign(0.26) tolerated(0.21) neutral(0.071) HMMPfam_DNA_ligase_A_N MYO16 23026 genome.wustl.edu 37 13 109318319 109318319 + Silent SNP G G C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015011.1 +1 validated p.R16 0.978 77 0% 96 32.3% 0 - - - - NULL MYO16 23026 genome.wustl.edu 37 13 109613904 109613904 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015011.1 +1 validated p.F663L 1.000 212 0% 255 25.9% 0 - possibly_damaging(0.775) tolerated(0.13) deleterious(0.541) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO16 23026 genome.wustl.edu 37 13 109617127 109617127 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015011.1 +1 validated p.R727Q 0.408 273 0% 358 34.4% 0 - probably_damaging(1) tolerated(0.33) deleterious(0.524) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO16 23026 genome.wustl.edu 37 13 109704685 109704685 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015011.1 +1 validated p.S948 1.000 193 0% 170 23.5% 0 - - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO16 23026 genome.wustl.edu 37 13 109793721 109793721 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015011.1 +1 validated p.E1699K 0.881 37 0% 35 25.7% 0 - possibly_damaging(0.822) deleterious(0.01) deleterious(0.717) NULL COL4A1 1282 genome.wustl.edu 37 13 110828825 110828825 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001845.4 -1 reviewed p.G1002C 1.000 167 0% 225 31.1% 87 3.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Collagen COL4A2 1284 genome.wustl.edu 37 13 111009849 111009849 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001846.2 +1 reviewed p.G44* 1.000 402 0% 663 12.2% 83 0% - - - NULL COL4A2 1284 genome.wustl.edu 37 13 111160550 111160550 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001846.2 +1 reviewed p.I1621 0.973 90 0% 80 31.2% 416 0.2% - - - HMMPfam_C4,HMMSmart_C4,superfamily_C-type_lectin_fold ING1 3621 genome.wustl.edu 37 13 111372064 111372064 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005537.3 +1 reviewed p.E352* 1.000 49 0% 85 37.6% 122 52.4% - - - superfamily_FYVE/PHD zinc finger ARHGEF7 8874 genome.wustl.edu 37 13 111767943 111767943 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001113511.1 +1 reviewed p.I24V 1.000 13 0% 14 71.4% 0 - benign(0.428) tolerated(0.32) neutral(0.163) HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain SPACA7 122258 genome.wustl.edu 37 13 113088848 113088848 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145248.3 +1 provisional p.S191 0.000 106 0% 151 25.8% 0 - - - - NULL ATP11A 23250 genome.wustl.edu 37 13 113512595 113512595 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032189.3 +1 reviewed p.F886L 1.000 184 0% 201 34.3% 1 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Calcium ATPase transmembrane domain M MCF2L 23263 genome.wustl.edu 37 13 113634065 113634065 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024979.3 +1 validated p.S28 0.000 23 0% 22 36.4% 2 0% - - - NULL F10 2159 genome.wustl.edu 37 13 113783828 113783828 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000504.3 +1 reviewed p.L45I 0.000 89 1.1% 136 36.8% 0 - benign(0.114) deleterious(0.05) neutral(0.354) HMMPfam_Gla,HMMSmart_SM00069,superfamily_GLA-domain LOC100289447 100289447 genome.wustl.edu 37 13 113803456 113803456 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002344234.1 -1 model p.E114K 0.997 23 4.3% 30 46.7% 1 0% - - - NULL ADPRHL1 113622 genome.wustl.edu 37 13 114078645 114078645 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138430.3 -1 validated p.S265L 0.999 74 0% 108 40.7% 4 25% probably_damaging(0.999) tolerated(0.31) deleterious(0.517) HMMPfam_ADP_ribosyl_GH,superfamily_ADP-ribosylglycohydrolase TMCO3 55002 genome.wustl.edu 37 13 114150160 114150160 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017905.4 +1 validated p.E88D 1.000 60 0% 172 35.5% 16 18.7% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TFDP1 7027 genome.wustl.edu 37 13 114287501 114287501 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007111.4 +1 reviewed p.E125D 1.000 82 0% 145 35.2% 41 43.9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_E2F_TDP,superfamily_SSF46785 TFDP1 7027 genome.wustl.edu 37 13 114294571 114294571 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007111.4 +1 reviewed p.E408K 1.000 45 0% 77 33.8% 62 32.2% unknown(0) deleterious(0) - NULL FAM70B 348013 genome.wustl.edu 37 13 114514716 114514716 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182614.2 +1 provisional p.S274N 0.003 99 0% 90 31.1% 3 0% benign(0.338) tolerated(0.06) neutral(0.429) NULL CDC16 8881 genome.wustl.edu 37 13 115004480 115004480 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001078645.1 +1 reviewed p.R73C 1.000 318 0% 483 34.2% 20 20% benign(0.056) tolerated(0.19) neutral(0.053) superfamily_TPR-like CDC16 8881 genome.wustl.edu 37 13 115037693 115037693 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001078645.1 +1 reviewed p.D546 1.000 50 0% 67 35.8% 112 39.2% - - - NULL LOC100132257 100132257 genome.wustl.edu 37 14 19114489 19114489 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002343306.1 +1 model p.T33A 0.996 81 0% 141 14.9% 0 - - - - HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK OR11H12 440153 genome.wustl.edu 37 14 19378230 19378230 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001013354.1 +1 provisional p.F213L 0.001 538 0% 587 15% 0 - benign(0) tolerated(0.23) neutral(0.042) HMMPfam_7tm_1,superfamily_SSF81321 POTEG 404785 genome.wustl.edu 37 14 19553478 19553478 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005356.2 +1 validated p.R21I 0.003 1000 0.1% 918 6.6% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL POTEG 404785 genome.wustl.edu 37 14 19553675 19553675 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005356.2 +1 validated p.D87N 0.000 548 0% 635 10.9% 0 - benign(0.006) deleterious(0) neutral(0.445) NULL ENSG00000226518 0 genome.wustl.edu 37 14 20087682 20087682 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000422907 +1 known p.E84D 1.000 90 0% 132 22% 0 - - - - NULL OR11H2 79334 genome.wustl.edu 37 14 20181611 20181611 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000334072 -1 known p.L155 0.001 497 0% 628 14.5% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR11H2 79334 genome.wustl.edu 37 14 20181767 20181767 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000334072 -1 known p.E103D 0.000 367 0% 462 13.6% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR11H2 79334 genome.wustl.edu 37 14 20181833 20181833 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000334072 -1 known p.F81L 0.992 279 0% 332 24.4% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR4Q3 441669 genome.wustl.edu 37 14 20216153 20216153 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_172194.1 +1 provisional p.A189 0.997 537 0% 504 23.4% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR4Q3 441669 genome.wustl.edu 37 14 20216514 20216514 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_172194.1 +1 provisional p.P310T 0.000 128 0% 158 20.3% 0 - benign(0.001) deleterious(0.04) neutral(0.349) NULL OR4M1 441670 genome.wustl.edu 37 14 20249377 20249377 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005500.1 +1 provisional p.A299V 1.000 250 0% 315 25.4% 0 - probably_damaging(0.988) deleterious(0.01) deleterious(0.843) superfamily_Family A G protein-coupled receptor-like OR4N2 390429 genome.wustl.edu 37 14 20295871 20295871 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004723.1 +1 provisional p.A88 0.912 366 0% 507 21.3% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR4K2 390431 genome.wustl.edu 37 14 20344704 20344704 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005501.1 +1 provisional p.S93Y 0.998 430 0% 570 20.4% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR4K5 79317 genome.wustl.edu 37 14 20389043 20389043 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005483.1 +1 provisional p.S93Y 0.727 322 0% 314 23.2% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_7tm_1,superfamily_SSF81321 OR4K5 79317 genome.wustl.edu 37 14 20389507 20389507 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005483.1 +1 provisional p.I248L 0.000 599 0% 503 27.4% 0 - benign(0) tolerated(0.4) neutral(0.016) HMMPfam_7tm_1,superfamily_SSF81321 OR4K1 79544 genome.wustl.edu 37 14 20403974 20403974 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004063.2 +1 validated p.S50Y 0.000 811 0% 896 19.5% 0 - benign(0.009) tolerated(0.08) neutral(0.300) HMMPfam_7tm_1,superfamily_SSF81321 OR4K1 79544 genome.wustl.edu 37 14 20404262 20404262 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004063.2 +1 validated p.S146Y 0.000 325 0.3% 336 21.1% 0 - benign(0.011) tolerated(0.09) neutral(0.297) HMMPfam_7tm_1,superfamily_SSF81321 OR4K15 81127 genome.wustl.edu 37 14 20444383 20444383 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005486.1 +1 provisional p.L236I 0.000 242 0% 183 28.4% 0 - benign(0.155) tolerated(0.5) neutral(0.024) HMMPfam_7tm_1,superfamily_SSF81321 OR4K13 390433 genome.wustl.edu 37 14 20502003 20502003 + Nonstop_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004714.1 -1 provisional p.*305Y 0.001 50 0% 40 25% 0 - - - - NULL OR4L1 122742 genome.wustl.edu 37 14 20528974 20528974 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004717.1 +1 provisional p.I257 0.814 263 0% 180 35% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR4N5 390437 genome.wustl.edu 37 14 20612213 20612213 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004724.1 +1 provisional p.L107I 0.009 199 0% 209 32.1% 0 - benign(0.012) tolerated(0.17) neutral(0.059) HMMPfam_7tm_1,superfamily_SSF81321 OR11G2 390439 genome.wustl.edu 37 14 20666238 20666238 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005503.1 +1 provisional p.L248 0.001 256 0.4% 386 31.9% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR11H6 122748 genome.wustl.edu 37 14 20692037 20692037 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004480.1 +1 provisional p.L57M 0.179 187 0% 246 32.9% 0 - benign(0.325) deleterious(0) deleterious(0.546) superfamily_SSF81321 OR11H4 390442 genome.wustl.edu 37 14 20711176 20711176 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004479.1 +1 provisional p.F76V 0.874 104 0% 216 35.2% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like TEP1 7011 genome.wustl.edu 37 14 20856156 20856156 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007110.4 -1 reviewed p.K864N 1.000 142 0.7% 259 57.9% 3 100% probably_damaging(0.999) tolerated(0.13) deleterious(0.743) NULL KLHL33 123103 genome.wustl.edu 37 14 20897488 20897488 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001109997.2 -1 validated p.S294 0.795 138 0% 263 33.5% 0 - - - - HMMPfam_Kelch_1,HMMSmart_Kelch,superfamily_Gal_oxid_central KLHL33 123103 genome.wustl.edu 37 14 20898098 20898098 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001109997.2 -1 validated p.R166Q 0.082 55 0% 57 42.1% 1 0% probably_damaging(0.988) deleterious(0.04) deleterious(0.786) superfamily_Gal_oxid_central RNASE11 122651 genome.wustl.edu 37 14 21052295 21052295 + Silent SNP C C T rs141129644 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145250.3 -1 validated p.S113 0.000 159 1.3% 261 34.1% 0 - - - - superfamily_RNase A-like OR6S1 341799 genome.wustl.edu 37 14 21109613 21109613 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001001968.1 -1 provisional p.I80V 1.000 102 0% 165 32.7% 0 - benign(0.002) tolerated(0.5) neutral(0.010) HMMPfam_7tm_1,superfamily_SSF81321 EDDM3A 10876 genome.wustl.edu 37 14 21216143 21216143 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006683.4 +1 validated p.N135T 0.212 57 0% 103 34% 0 - benign(0.01) tolerated(0.13) neutral(0.253) superfamily_RNaseA EDDM3B 64184 genome.wustl.edu 37 14 21238327 21238327 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022360.4 +1 validated p.K6N 0.000 56 0% 83 37.3% 0 - probably_damaging(0.958) deleterious(0) deleterious(0.846) NULL ENSG00000136315 0 genome.wustl.edu 37 14 21388182 21388182 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000258817 +1 known p.A128T 0.000 105 0% 149 28.2% 1 0% - - - HMMPfam_RnaseA,HMMSmart_SM00092,superfamily_RNase A-like ENSG00000246096 0 genome.wustl.edu 37 14 21464013 21464013 + RNA SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000500338 -1 known NULL 0.001 222 0% 279 38.4% 0 - - - - - RNASE7 84659 genome.wustl.edu 37 14 21511502 21511502 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032572.3 +1 validated p.P117 0.003 138 0% 206 35.9% 0 - - - - HMMPfam_RnaseA,HMMSmart_SM00092,superfamily_RNase A-like RPGRIP1 57096 genome.wustl.edu 37 14 21771501 21771501 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020366.3 +1 reviewed p.S200F 0.223 52 0% 92 34.8% 0 - possibly_damaging(0.933) tolerated(0.09) deleterious(0.675) NULL RPGRIP1 57096 genome.wustl.edu 37 14 21780645 21780645 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020366.3 +1 reviewed p.N377K 1.000 114 0% 255 35.7% 0 - benign(0.141) deleterious(0.02) neutral(0.395) NULL CHD8 57680 genome.wustl.edu 37 14 21869147 21869147 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020920.3 -1 reviewed p.F1140L 1.000 251 0.4% 426 32.6% 10 60% benign(0) tolerated(0.83) neutral(0.001) superfamily_P-loop containing nucleoside triphosphate hydrolases CHD8 57680 genome.wustl.edu 37 14 21873897 21873897 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020920.3 -1 reviewed p.L733I 1.000 133 0% 210 32.4% 9 66.6% probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_SNF2_N CHD8 57680 genome.wustl.edu 37 14 21882504 21882504 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020920.3 -1 reviewed p.R421C 1.000 339 0% 527 30% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Chromo,HMMSmart_SM00298,superfamily_Chromo domain-like TOX4 9878 genome.wustl.edu 37 14 21944860 21944860 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000416256 +1 known p.R16Q 0.546 12 0% 15 40% 0 - unknown(0) - - NULL OR4E2 26686 genome.wustl.edu 37 14 22133461 22133461 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001001912.1 +1 validated p.L55 0.922 336 0% 475 33.3% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 ABHD4 63874 genome.wustl.edu 37 14 23072380 23072380 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022060.2 +1 validated p.N66 0.990 51 0% 75 38.7% 19 36.8% - - - superfamily_SSF53474 SLC7A7 9056 genome.wustl.edu 37 14 23244666 23244666 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001126105.1 -1 reviewed p.S361Y 1.000 85 0% 172 38.4% 12 16.6% benign(0.204) deleterious(0) neutral(0.464) NULL REM2 161253 genome.wustl.edu 37 14 23354010 23354010 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173527.2 +1 validated p.L77 1.000 52 0% 77 41.6% 0 - - - - NULL HAUS4 54930 genome.wustl.edu 37 14 23416390 23416390 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017815.2 -1 reviewed p.R300C 1.000 72 0% 188 42% 34 20.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PSMB11 122706 genome.wustl.edu 37 14 23512056 23512056 + Missense_Mutation SNP G G A rs144901834 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001099780.1 +1 validated p.A208T 0.998 46 0% 69 39.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Proteasome,superfamily_SSF56235 SLC22A17 51310 genome.wustl.edu 37 14 23818557 23818557 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020372.2 -1 provisional p.S150 0.995 58 0% 80 36.2% 11 0% - - - HMMPfam_MFS_1,superfamily_MFS general substrate transporter MYH6 4624 genome.wustl.edu 37 14 23863307 23863307 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002471.3 -1 validated p.E885 1.000 143 0% 171 39.8% 0 - - - - NULL LOC100288922 100288922 genome.wustl.edu 37 14 23885021 23885021 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002343268.1 +1 model p.V60I 0.995 99 0% 128 32% 0 - - - - NULL MYH7 4625 genome.wustl.edu 37 14 23886765 23886765 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000257.2 -1 reviewed p.R1434C 1.000 139 0% 157 29.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_tail_1,superfamily_Prefoldin MYH7 4625 genome.wustl.edu 37 14 23894508 23894508 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000257.2 -1 reviewed p.K802N 1.000 121 0% 224 35.7% 0 - benign(0) tolerated(0.16) neutral(0.059) HMMPfam_IQ,HMMSmart_SM00015,superfamily_P-loop containing nucleoside triphosphate hydrolases MYH7 4625 genome.wustl.edu 37 14 23900644 23900644 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000257.2 -1 reviewed p.S260Y 0.998 155 0% 243 31.3% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYH7 4625 genome.wustl.edu 37 14 23901694 23901694 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000257.2 -1 reviewed p.L175R 1.000 345 0.3% 483 37.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases NGDN 25983 genome.wustl.edu 37 14 23940183 23940183 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001042635.1 +1 validated p.E47D 1.000 147 0% 337 32% 34 44.1% benign(0) tolerated(0.62) neutral(0.004) HMMPfam_Sas10_Utp3 AP1G2 8906 genome.wustl.edu 37 14 24029197 24029197 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003917.2 -1 reviewed p.R736W 1.000 52 0% 75 33.3% 48 58.3% possibly_damaging(0.851) deleterious(0.02) deleterious(0.710) HMMPfam_Alpha_adaptinC2,HMMSmart_Alpha_adaptinC2,superfamily_Clath_adapt DHRS4L1 728635 genome.wustl.edu 37 14 24518539 24518539 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001082488.1 +1 provisional p.R241W 0.000 251 0.4% 549 37% 2 0% benign(0.012) tolerated(0.09) neutral(0.297) superfamily_NAD(P)-binding Rossmann-fold domains LRRC16B 90668 genome.wustl.edu 37 14 24529234 24529234 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138360.3 +1 validated p.R642C 1.000 106 0% 138 35.5% 0 - unknown(0) deleterious(0) - NULL PCK2 5106 genome.wustl.edu 37 14 24566230 24566230 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004563.2 +1 reviewed p.R53 0.968 52 0% 75 36% 29 31% - - - HMMPfam_PEPCK,superfamily_PEP carboxykinase N-terminal domain PSME2 5721 genome.wustl.edu 37 14 24614371 24614371 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000429021 -1 known p.L101F 0.982 291 0% 691 35.2% 1 0% - - - superfamily_Proteasome activator reg(alpha) PSME2 5721 genome.wustl.edu 37 14 24614962 24614962 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002818.2 -1 reviewed p.R34I 0.157 163 0% 357 28.6% 155 35.4% benign(0.007) tolerated(0.05) neutral(0.345) HMMPfam_PA28_alpha,superfamily_Prot_act_regA RNF31 55072 genome.wustl.edu 37 14 24624626 24624626 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017999.4 +1 validated p.R770C 1.000 147 0% 210 39% 40 30% probably_damaging(1) deleterious(0) deleterious(0.945) NULL IPO4 79711 genome.wustl.edu 37 14 24655131 24655131 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024658.3 -1 validated p.R369C 1.000 58 0% 90 28.9% 56 51.7% unknown(0) tolerated(0.08) - HMMPfam_HEAT,superfamily_ARM repeat RABGGTA 5875 genome.wustl.edu 37 14 24738118 24738118 + Nonsense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004581.3 -1 validated p.L266* 0.001 95 0% 187 29.4% 24 16.6% - - - HMMPfam_RabGGT_insert,superfamily_RabGG_trans_A,superfamily_Prenyl_trans ADCY4 196883 genome.wustl.edu 37 14 24787668 24787668 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_139247.2 -1 reviewed p.N1063S 1.000 270 0% 443 32.7% 7 0% benign(0) tolerated(0.3) neutral(0.029) HMMPfam_Guanylate_cyc,superfamily_Adenylyl and guanylyl cyclase catalytic domain NYNRIN 57523 genome.wustl.edu 37 14 24886097 24886097 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025081.2 +1 validated p.T1714 0.001 21 0% 36 36.1% 22 50% - - - NULL KHNYN 23351 genome.wustl.edu 37 14 24902032 24902032 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015299.2 +1 validated p.R485H 1.000 240 0% 358 32.4% 40 50% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL KHNYN 23351 genome.wustl.edu 37 14 24905333 24905333 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015299.2 +1 validated p.F545L 1.000 112 0% 176 25% 27 44.4% benign(0.107) tolerated(0.18) neutral(0.065) NULL GZMB 3002 genome.wustl.edu 37 14 25102155 25102155 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004131.4 -1 reviewed p.D57N 0.000 122 0% 177 40.7% 6 0% possibly_damaging(0.445) tolerated(0.36) neutral(0.165) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases FOXG1 2290 genome.wustl.edu 37 14 29237185 29237185 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005249.3 +1 reviewed p.S234P 1.000 33 0% 38 50% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Fork_head,HMMSmart_FH,superfamily_SSF46785 G2E3 55632 genome.wustl.edu 37 14 31085723 31085723 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017769.3 +1 validated p.H702N 0.992 72 0% 85 24.7% 2 50% benign(0.004) deleterious(0) neutral(0.445) NULL COCH 1690 genome.wustl.edu 37 14 31349942 31349942 + Splice_Site SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001135058.1 +1 reviewed e7+2 1.000 120 0% 177 35.6% 0 - - - - - COCH 1690 genome.wustl.edu 37 14 31358960 31358960 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001135058.1 +1 reviewed p.R539K 1.000 168 0% 208 36.5% 10 90% probably_damaging(0.99) tolerated(0.8) neutral(0.442) superfamily_vWA-like STRN3 29966 genome.wustl.edu 37 14 31364942 31364942 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001083893.1 -1 validated p.H717R 1.000 111 0% 132 31.1% 18 44.4% probably_damaging(0.979) deleterious(0) deleterious(0.867) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 HECTD1 25831 genome.wustl.edu 37 14 31618223 31618223 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015382.2 -1 validated p.E767* 1.000 250 0% 405 35.6% 3 0% - - - superfamily_ARM repeat ARHGAP5 394 genome.wustl.edu 37 14 32560511 32560511 + Silent SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001030055.1 +1 reviewed p.V212 0.998 109 0% 85 35.3% 4 25% - - - HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases ARHGAP5 394 genome.wustl.edu 37 14 32562651 32562651 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001030055.1 +1 reviewed p.R926W 0.996 143 0.7% 134 32.1% 1 0% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL AKAP6 9472 genome.wustl.edu 37 14 33015749 33015749 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004274.4 +1 reviewed p.Y630* 1.000 115 0% 170 30.6% 0 - - - - NULL AKAP6 9472 genome.wustl.edu 37 14 33291974 33291974 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004274.4 +1 reviewed p.R1652Q 1.000 99 0% 87 34.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL AKAP6 9472 genome.wustl.edu 37 14 33292160 33292160 + Missense_Mutation SNP C C T rs143719716 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004274.4 +1 reviewed p.S1714L 0.996 142 0% 141 9.9% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL AKAP6 9472 genome.wustl.edu 37 14 33292416 33292416 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004274.4 +1 reviewed p.K1799N 1.000 113 0% 150 34% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL NPAS3 64067 genome.wustl.edu 37 14 34269154 34269154 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173159.2 +1 reviewed p.F534 1.000 67 0% 68 29.4% 0 - - - - NULL EGLN3 112399 genome.wustl.edu 37 14 34398307 34398307 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022073.3 -1 validated p.E197K 1.000 119 0% 156 37.2% 29 31% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_2OG-FeII_Oxy,HMMSmart_P4Hc EAPP 55837 genome.wustl.edu 37 14 34985778 34985778 + Missense_Mutation SNP T T A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018453.3 -1 reviewed p.K199I 1.000 79 0% 175 32.6% 32 43.7% probably_damaging(0.972) tolerated(0.11) deleterious(0.685) HMMPfam_Eapp_C SNX6 58533 genome.wustl.edu 37 14 35072589 35072589 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152233.2 -1 reviewed p.L173 1.000 64 0% 123 30.1% 19 31.5% - - - HMMPfam_PX,superfamily_PX domain BAZ1A 11177 genome.wustl.edu 37 14 35245691 35245691 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013448.2 -1 validated p.F756C 0.991 107 0% 189 44.4% 1 100% benign(0.001) tolerated(0.2) neutral(0.049) NULL BAZ1A 11177 genome.wustl.edu 37 14 35280181 35280181 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013448.2 -1 validated p.E200* 1.000 302 0% 435 26.7% 3 0% - - - NULL SRP54 6729 genome.wustl.edu 37 14 35468834 35468834 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003136.3 +1 validated p.K50T 1.000 175 0% 335 33.7% 12 91.6% possibly_damaging(0.617) tolerated(0.15) neutral(0.456) HMMPfam_SRP54_N,superfamily_Domain of the SRP/SRP receptor G-proteins LOC100289251 100289251 genome.wustl.edu 37 14 35872871 35872871 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002343271.1 +1 model p.R75 0.013 60 0% 95 34.7% 0 - - - - NULL RALGAPA1 253959 genome.wustl.edu 37 14 36143738 36143738 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_194301.2 -1 provisional p.W1095L 1.000 57 0% 74 35.1% 4 25% probably_damaging(0.999) deleterious(0.05) deleterious(0.836) NULL RALGAPA1 253959 genome.wustl.edu 37 14 36217796 36217796 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_194301.2 -1 provisional p.R416S 1.000 117 0% 138 30.4% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL RALGAPA1 253959 genome.wustl.edu 37 14 36230079 36230079 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_194301.2 -1 provisional p.R168Q 1.000 174 0% 235 30.2% 1 100% probably_damaging(1) tolerated(0.62) deleterious(0.504) NULL MIPOL1 145282 genome.wustl.edu 37 14 37739656 37739656 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138731.5 +1 validated p.E140G 1.000 102 0% 113 30.1% 1 0% unknown(0) deleterious(0) - NULL TRAPPC6B 122553 genome.wustl.edu 37 14 39627545 39627545 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001079537.1 -1 validated p.D71Y 1.000 218 0% 306 33.7% 8 12.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TRAPP PNN 5411 genome.wustl.edu 37 14 39648320 39648320 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002687.3 +1 validated p.Q175P 1.000 168 0% 391 35.3% 40 50% probably_damaging(0.983) deleterious(0) deleterious(0.873) HMMPfam_Pinin_SDK_memA MIA2 117153 genome.wustl.edu 37 14 39716340 39716340 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_054024.3 +1 validated p.G188R 0.000 86 0% 170 31.2% 0 - benign(0) tolerated(0.89) - NULL MIA2 117153 genome.wustl.edu 37 14 39722059 39722059 + Missense_Mutation SNP G G A rs146422472 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_054024.3 +1 validated p.E559K 0.037 160 0% 191 34.6% 0 - benign(0.002) deleterious(0) neutral(0.445) NULL CTAGE5 4253 genome.wustl.edu 37 14 39764189 39764189 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005930.3 +1 validated p.D210Y 1.000 115 0% 179 24% 12 50% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL LRFN5 145581 genome.wustl.edu 37 14 42361143 42361143 + Silent SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152447.3 +1 validated p.S692 0.980 72 0% 97 38.1% 3 66.6% - - - NULL FSCB 84075 genome.wustl.edu 37 14 44973891 44973891 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032135.3 -1 validated p.G767E 0.000 54 0% 51 31.4% 0 - probably_damaging(1) tolerated(0.36) deleterious(0.520) NULL FSCB 84075 genome.wustl.edu 37 14 44975122 44975122 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032135.3 -1 validated p.E357K 0.008 89 0% 149 36.9% 0 - possibly_damaging(0.749) tolerated(0.38) neutral(0.293) NULL KLHL28 54813 genome.wustl.edu 37 14 45403502 45403502 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017658.3 -1 validated p.E387* 1.000 238 0% 269 33.8% 3 0% - - - HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain FAM179B 23116 genome.wustl.edu 37 14 45465046 45465046 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015091.2 +1 validated p.R715I 1.000 251 0% 362 33.1% 0 - possibly_damaging(0.827) deleterious(0) deleterious(0.758) superfamily_ARM repeat FAM179B 23116 genome.wustl.edu 37 14 45535884 45535884 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015091.2 +1 validated p.D1502Y 1.000 167 0% 214 34.6% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat FAM179B 23116 genome.wustl.edu 37 14 45542738 45542738 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015091.2 +1 validated p.D1713N 0.870 102 0% 161 32.9% 7 14.2% benign(0.013) tolerated(0.13) neutral(0.253) NULL FANCM 57697 genome.wustl.edu 37 14 45636235 45636235 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020937.2 +1 reviewed p.R624I 0.994 106 0% 136 30.9% 0 - benign(0.002) tolerated(0.18) neutral(0.056) superfamily_P-loop containing nucleoside triphosphate hydrolases FANCM 57697 genome.wustl.edu 37 14 45644492 45644492 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020937.2 +1 reviewed p.I845 0.003 73 0% 76 28.9% 0 - - - - NULL FANCM 57697 genome.wustl.edu 37 14 45644846 45644846 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020937.2 +1 reviewed p.F963 0.976 54 0% 74 29.7% 0 - - - - NULL MIS18BP1 55320 genome.wustl.edu 37 14 45673642 45673642 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018353.4 -1 validated p.F1085L 0.182 183 0% 231 31.2% 19 52.6% benign(0) tolerated(0.63) neutral(0.004) NULL RPL10L 140801 genome.wustl.edu 37 14 47120530 47120530 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_080746.2 -1 reviewed p.S137F 1.000 135 0% 164 33.5% 0 - probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMPfam_Ribosomal_L16,superfamily_Ribosomal_L10e/L16 MDGA2 161357 genome.wustl.edu 37 14 47351279 47351279 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001113498.1 -1 validated p.G726V 1.000 127 0% 77 31.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_FN_III-like NEMF 9147 genome.wustl.edu 37 14 50251415 50251415 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004713.3 -1 validated p.R1057I 1.000 135 0% 139 33.1% 20 35% probably_damaging(1) deleterious(0) deleterious(0.945) NULL NEMF 9147 genome.wustl.edu 37 14 50296111 50296111 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004713.3 -1 validated p.R327* 1.000 234 0% 528 28.4% 1 0% - - - NULL SOS2 6655 genome.wustl.edu 37 14 50585495 50585495 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006939.2 -1 validated p.V1189A 1.000 26 0% 67 34.3% 9 44.4% benign(0.003) tolerated(0.61) neutral(0.004) NULL SOS2 6655 genome.wustl.edu 37 14 50649319 50649319 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006939.2 -1 validated p.I240 1.000 69 0% 94 33% 3 0% - - - HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_DH-domain SOS2 6655 genome.wustl.edu 37 14 50655256 50655256 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006939.2 -1 validated p.R225* 1.000 108 0% 135 34.1% 4 50% - - - HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_DH-domain L2HGDH 79944 genome.wustl.edu 37 14 50713819 50713819 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024884.2 -1 reviewed p.S450F 1.000 62 0% 86 31.4% 5 60% probably_damaging(0.961) deleterious(0) deleterious(0.849) HMMPfam_DAO L2HGDH 79944 genome.wustl.edu 37 14 50736035 50736035 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024884.2 -1 reviewed p.R251Q 0.869 70 0% 103 43.7% 8 62.5% benign(0.014) tolerated(0.39) neutral(0.017) HMMPfam_DAO,superfamily_FAD/NAD(P)-binding domain ATL1 51062 genome.wustl.edu 37 14 51080016 51080016 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015915.4 +1 reviewed p.E224K 1.000 291 0.3% 175 32% 1 0% probably_damaging(0.964) deleterious(0) deleterious(0.851) HMMPfam_GBP,superfamily_P-loop containing nucleoside triphosphate hydrolases SAV1 60485 genome.wustl.edu 37 14 51131996 51131996 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021818.2 -1 reviewed p.R146W 0.994 145 0% 216 29.6% 11 36.3% probably_damaging(0.985) deleterious(0) deleterious(0.877) NULL NIN 51199 genome.wustl.edu 37 14 51210967 51210967 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020921.3 -1 reviewed p.V1727 0.003 388 0% 518 30.7% 11 27.2% - - - NULL NIN 51199 genome.wustl.edu 37 14 51223600 51223600 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020921.3 -1 reviewed p.V1383G 0.000 163 0% 325 35.7% 1 100% benign(0) deleterious(0) neutral(0.445) NULL PYGL 5836 genome.wustl.edu 37 14 51381530 51381530 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002863.4 -1 reviewed p.F469L 1.000 210 0% 303 38.3% 7 42.8% possibly_damaging(0.535) tolerated(0.27) neutral(0.214) HMMPfam_Phosphorylase,superfamily_SSF53756 TRIM9 114088 genome.wustl.edu 37 14 51561083 51561083 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015163.5 -1 reviewed p.P192L 1.000 33 0% 51 47.1% 0 - benign(0.085) tolerated(0.2) neutral(0.055) HMMSmart_SM00336 C14orf166 51637 genome.wustl.edu 37 14 52471088 52471088 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016039.2 +1 validated p.L197I 1.000 165 0% 132 38.6% 293 49.8% benign(0.001) - - HMMPfam_RLL NID2 22795 genome.wustl.edu 37 14 52481150 52481150 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007361.3 -1 validated p.M1092T 0.006 163 0% 285 30.9% 12 0% benign(0) tolerated(1) - NULL NID2 22795 genome.wustl.edu 37 14 52505500 52505500 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007361.3 -1 validated p.R741I 0.281 238 0% 398 11.1% 8 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00682,superfamily_GFP-like PTGER2 5732 genome.wustl.edu 37 14 52781362 52781362 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000956.3 +1 reviewed p.F32L 0.969 20 0% 12 50% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) superfamily_SSF81321 PTGER2 5732 genome.wustl.edu 37 14 52781762 52781762 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000956.3 +1 reviewed p.L166F 0.999 34 0% 38 28.9% 3 0% benign(0.108) tolerated(0.13) neutral(0.261) HMMPfam_7tm_1,superfamily_SSF81321 TXNDC16 57544 genome.wustl.edu 37 14 53010174 53010174 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020784.2 -1 validated p.Q34H 0.976 113 0% 117 29.1% 1 0% benign(0) deleterious(0) neutral(0.445) superfamily_Thioredoxin-like GPR137C 283554 genome.wustl.edu 37 14 53098897 53098897 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001099652.1 +1 provisional p.T246N 0.999 247 0% 281 31.3% 0 - probably_damaging(0.962) deleterious(0.02) deleterious(0.788) NULL ERO1L 30001 genome.wustl.edu 37 14 53133162 53133162 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014584.1 -1 provisional p.R187H 1.000 145 0% 254 34.6% 33 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ERO1,superfamily_ERO1 ERO1L 30001 genome.wustl.edu 37 14 53150576 53150576 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014584.1 -1 provisional p.R55I 0.959 121 0% 161 21.7% 15 13.3% possibly_damaging(0.531) tolerated(0.39) neutral(0.195) superfamily_ERO1 CGRRF1 10668 genome.wustl.edu 37 14 54989231 54989231 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006568.2 +1 validated p.R55I 1.000 207 0% 302 31.1% 10 30% benign(0.111) tolerated(0.34) neutral(0.032) NULL CGRRF1 10668 genome.wustl.edu 37 14 54997737 54997737 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006568.2 +1 validated p.A180V 1.000 118 0% 126 29.4% 9 44.4% probably_damaging(0.956) tolerated(0.22) neutral(0.442) NULL SOCS4 122809 genome.wustl.edu 37 14 55510977 55510977 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_080867.2 +1 reviewed p.I406 0.979 149 0% 210 33.8% 6 50% - - - HMMPfam_SOCS_box,HMMSmart_SM00253,superfamily_SH2 domain LGALS3 3958 genome.wustl.edu 37 14 55604621 55604621 + RNA SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NR_003225.2 +1 reviewed NULL 0.000 8 0.000 16 0.312 2 50% - - - - DLGAP5 9787 genome.wustl.edu 37 14 55618421 55618421 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014750.4 -1 validated p.S787Y 0.111 122 0% 113 31.9% 28 57.1% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL KTN1 3895 genome.wustl.edu 37 14 56079018 56079018 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001079521.1 +1 validated p.F84 0.996 62 0% 75 30.7% 14 42.8% - - - NULL KTN1 3895 genome.wustl.edu 37 14 56139398 56139398 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001079521.1 +1 validated p.S1194 0.944 287 0% 206 29.6% 137 37.2% - - - NULL PELI2 57161 genome.wustl.edu 37 14 56757152 56757152 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021255.2 +1 validated p.S225L 1.000 106 0% 105 36.2% 3 33.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Pellino C14orf101 54916 genome.wustl.edu 37 14 57088288 57088288 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017799.3 +1 validated p.F422 1.000 187 0.5% 342 35.7% 7 71.4% - - - NULL EXOC5 10640 genome.wustl.edu 37 14 57676477 57676477 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006544.3 -1 reviewed p.Y582 0.998 197 0.5% 169 29% 9 33.3% - - - HMMPfam_Sec10 EXOC5 10640 genome.wustl.edu 37 14 57698260 57698260 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006544.3 -1 reviewed p.S371L 1.000 126 0% 143 25.2% 6 33.3% probably_damaging(0.982) deleterious(0.01) deleterious(0.832) HMMPfam_Sec10 MUDENG 55745 genome.wustl.edu 37 14 57741091 57741091 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018229.3 +1 validated p.F68 0.018 150 0% 184 34.2% 14 50% - - - NULL NAA30 122830 genome.wustl.edu 37 14 57858409 57858409 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001011713.2 +1 validated p.R245I 1.000 55 0% 60 35% 10 50% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) superfamily_Acyl-CoA N-acyltransferases (Nat) SLC35F4 341880 genome.wustl.edu 37 14 58055985 58055985 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080455.1 -1 provisional p.S215F 1.000 201 0% 228 34.2% 0 - benign(0.209) tolerated(0.26) neutral(0.055) NULL C14orf37 145407 genome.wustl.edu 37 14 58605557 58605557 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001001872.2 -1 predicted p.E174K 0.003 73 0% 122 29.5% 4 50% benign(0.425) tolerated(0.36) neutral(0.158) NULL KIAA0586 9786 genome.wustl.edu 37 14 58927786 58927786 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014749.3 +1 validated p.R580Q 1.000 185 0% 259 31.3% 1 0% probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL KIAA0586 9786 genome.wustl.edu 37 14 58975383 58975383 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014749.3 +1 validated p.E1351* 0.013 250 0% 264 25.4% 10 10% - - - NULL DAAM1 23002 genome.wustl.edu 37 14 59730251 59730251 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014992.1 +1 reviewed p.R19Q 0.998 208 0% 232 33.6% 1 100% unknown(0) tolerated(0.43) - NULL GPR135 64582 genome.wustl.edu 37 14 59930654 59930654 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022571.5 -1 validated p.R431* 0.883 53 0% 69 29% 0 - - - - NULL C14orf38 729665 genome.wustl.edu 37 14 59998597 59998597 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000281581 -1 known p.K552T 0.005 326 0% 355 33.5% 0 - probably_damaging(0.995) deleterious(0.02) deleterious(0.841) NULL C14orf38 729665 genome.wustl.edu 37 14 60005442 60005442 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000281581 -1 known p.R491Q 0.002 370 0.3% 420 28.6% 0 - probably_damaging(1) tolerated(0.2) deleterious(0.549) NULL C14orf38 729665 genome.wustl.edu 37 14 60030495 60030495 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000281581 -1 known p.K268T 0.001 292 0.3% 219 29.7% 0 - benign(0.046) tolerated(0.32) neutral(0.026) NULL RTN1 6252 genome.wustl.edu 37 14 60213158 60213158 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021136.2 -1 reviewed p.T95A 0.000 41 0% 22 36.4% 0 - benign(0) tolerated(0.12) neutral(0.261) NULL C14orf135 64430 genome.wustl.edu 37 14 60600862 60600862 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022495.5 +1 validated p.L914I 1.000 179 0.6% 223 34.5% 28 35.7% probably_damaging(0.998) tolerated(0.09) deleterious(0.771) HMMPfam_Pecanex_C C14orf39 317761 genome.wustl.edu 37 14 60923795 60923795 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_174978.2 -1 validated p.F400V 0.134 96 1% 43 39.5% 0 - benign(0.119) deleterious(0.01) neutral(0.415) NULL SIX6 4990 genome.wustl.edu 37 14 60976364 60976364 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007374.2 +1 reviewed p.S83L 1.000 67 0% 76 31.6% 0 - possibly_damaging(0.943) tolerated(0.33) neutral(0.412) NULL SIX1 6495 genome.wustl.edu 37 14 61115663 61115663 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005982.3 -1 reviewed p.K82R 1.000 71 0% 86 37.2% 2 100% benign(0.205) tolerated(0.06) neutral(0.343) NULL TRMT5 57570 genome.wustl.edu 37 14 61446375 61446375 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020810.2 -1 validated p.G81S 1.000 282 0% 352 28.7% 3 0% probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL SLC38A6 145389 genome.wustl.edu 37 14 61510188 61510188 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153811.2 +1 validated p.D237E 0.991 128 0% 136 27.9% 7 28.5% benign(0.01) tolerated(0.87) neutral(0.001) HMMPfam_Aa_trans PRKCH 5583 genome.wustl.edu 37 14 61952307 61952307 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006255.3 +1 reviewed p.A456T 0.993 267 0% 434 34.3% 10 20% possibly_damaging(0.518) tolerated(0.07) deleterious(0.493) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase PRKCH 5583 genome.wustl.edu 37 14 61995853 61995853 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006255.3 +1 reviewed p.F498 0.005 109 0% 195 33.3% 21 38% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase SYT16 83851 genome.wustl.edu 37 14 62462834 62462834 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031914.2 +1 validated p.D33Y 0.746 142 0% 108 29.6% 0 - benign(0.046) deleterious(0) neutral(0.447) NULL GPHB5 122876 genome.wustl.edu 37 14 63779831 63779831 + Splice_Site SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145171.2 -1 validated e2-1 1.000 187 0% 264 32.6% 0 - - - - - SGPP1 81537 genome.wustl.edu 37 14 64152902 64152902 + Missense_Mutation SNP C C G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030791.2 -1 provisional p.R416P 1.000 111 0% 218 37.2% 8 62.5% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL SYNE2 23224 genome.wustl.edu 37 14 64375894 64375894 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182914.2 +1 reviewed p.E10K 0.903 119 0% 201 35.3% 0 - probably_damaging(0.955) - - NULL SYNE2 23224 genome.wustl.edu 37 14 64421478 64421478 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182914.2 +1 reviewed p.R211I 1.000 273 0% 448 26.1% 0 - probably_damaging(0.998) - - HMMPfam_CH,HMMSmart_CH,superfamily_Calponin-homology SYNE2 23224 genome.wustl.edu 37 14 64483259 64483259 + Missense_Mutation SNP A A T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182914.2 +1 reviewed p.K1599N 1.000 30 0% 42 45.2% 0 - probably_damaging(0.99) - - superfamily_Spectrin SYNE2 23224 genome.wustl.edu 37 14 64483288 64483288 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182914.2 +1 reviewed p.K1609T 0.947 38 0% 63 36.5% 0 - probably_damaging(0.955) - - superfamily_Spectrin SYNE2 23224 genome.wustl.edu 37 14 64518863 64518863 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182914.2 +1 reviewed p.K2744N 0.007 175 0% 305 29.2% 0 - probably_damaging(0.99) - - HMMSmart_SPEC,superfamily_Spectrin SYNE2 23224 genome.wustl.edu 37 14 64522934 64522934 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182914.2 +1 reviewed p.K3339 0.011 45 0% 114 35.1% 2 100% - - - superfamily_Spectrin SYNE2 23224 genome.wustl.edu 37 14 64537607 64537607 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182914.2 +1 reviewed p.S3559Y 0.052 72 0% 98 21.4% 4 50% probably_damaging(0.998) - - NULL SYNE2 23224 genome.wustl.edu 37 14 64606741 64606741 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182914.2 +1 reviewed p.N4976D 1.000 129 0% 207 29.5% 6 33.3% unknown(0) - - HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin SYNE2 23224 genome.wustl.edu 37 14 64637091 64637091 + Missense_Mutation SNP C C G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182914.2 +1 reviewed p.L5716V 1.000 91 0% 154 37% 8 25% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Spectrin ESR2 2100 genome.wustl.edu 37 14 64746774 64746774 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001437.2 -1 reviewed p.D154N 1.000 118 0% 200 33% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C4,HMMSmart_SM00399,PatternScan_NUCLEAR_REC_DBD_1,superfamily_Glucocorticoid receptor-like (DNA-binding domain) ZBTB1 22890 genome.wustl.edu 37 14 64988838 64988838 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001123329.1 +1 validated p.E206* 1.000 101 0% 137 36.5% 15 66.6% - - - NULL PPP1R36 145376 genome.wustl.edu 37 14 65053998 65053998 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_172365.1 +1 predicted p.L266 0.998 196 0% 321 39.6% 1 0% - - - NULL SPTB 6710 genome.wustl.edu 37 14 65240055 65240055 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001024858.2 -1 reviewed p.E1687D 1.000 119 0.8% 188 34% 14 57.1% benign(0.003) tolerated(0.89) - HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin FUT8 2530 genome.wustl.edu 37 14 66083023 66083023 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178154.1 +1 reviewed p.K138 0.995 98 0% 83 25.3% 7 28.5% - - - NULL GPHN 10243 genome.wustl.edu 37 14 67147902 67147902 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020806.4 +1 reviewed p.L48 0.998 220 0% 169 30.8% 0 - - - - HMMPfam_MoCF_biosynth,superfamily_MoCF_biosynth GPHN 10243 genome.wustl.edu 37 14 67431927 67431927 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020806.4 +1 reviewed p.S283F 1.000 305 0% 280 39.3% 5 40% probably_damaging(0.986) deleterious(0) deleterious(0.879) NULL GPHN 10243 genome.wustl.edu 37 14 67567593 67567593 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020806.4 +1 reviewed p.R420C 1.000 222 0.5% 453 34.2% 4 50% probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_MoeA_N,superfamily_MoeA_N GPHN 10243 genome.wustl.edu 37 14 67626169 67626169 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020806.4 +1 reviewed p.A625V 1.000 314 0% 411 30.2% 9 33.3% probably_damaging(0.953) deleterious(0.01) deleterious(0.802) HMMPfam_MoCF_biosynth,superfamily_MoCF_biosynth,PatternScan_MOCF_BIOSYNTHESIS_2 GPHN 10243 genome.wustl.edu 37 14 67646337 67646337 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020806.4 +1 reviewed p.R708W 1.000 176 0% 263 37.6% 9 55.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MoeA_C,superfamily_MoeA_C FAM71D 161142 genome.wustl.edu 37 14 67675013 67675013 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173526.2 +1 validated p.N336S 0.727 149 0% 281 39.1% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL FAM71D 161142 genome.wustl.edu 37 14 67691837 67691837 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173526.2 +1 validated p.L398I 0.000 353 0% 701 30.7% 0 - benign(0.079) - - NULL MPP5 64398 genome.wustl.edu 37 14 67783593 67783593 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022474.2 +1 validated p.E424* 1.000 122 0% 182 27.5% 2 0% - - - superfamily_SH3-domain EIF2S1 1965 genome.wustl.edu 37 14 67847476 67847476 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004094.4 +1 validated p.R192* 1.000 57 0% 76 38.2% 12 0% - - - HMMPfam_EIF_2_alpha,superfamily_eIF-2-alpha C-terminal domain ZFYVE26 23503 genome.wustl.edu 37 14 68220817 68220817 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015346.3 -1 reviewed p.N2367D 1.000 169 0% 254 26% 25 36% possibly_damaging(0.911) tolerated(0.46) neutral(0.375) NULL ZFYVE26 23503 genome.wustl.edu 37 14 68221958 68221958 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015346.3 -1 reviewed p.R2266W 1.000 194 0% 308 33.4% 9 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZFYVE26 23503 genome.wustl.edu 37 14 68250124 68250124 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015346.3 -1 reviewed p.L1249F 0.394 77 0% 129 31.8% 10 70% probably_damaging(0.959) deleterious(0) deleterious(0.847) NULL GALNTL1 57452 genome.wustl.edu 37 14 69792727 69792727 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020692.2 +1 validated p.R184H 1.000 156 0.6% 202 30.7% 3 33.3% possibly_damaging(0.56) deleterious(0) deleterious(0.635) HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases KIAA0247 9766 genome.wustl.edu 37 14 70170206 70170206 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014734.3 +1 validated p.Y72* 1.000 103 0% 175 37.1% 4 0% - - - HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module SRSF5 6430 genome.wustl.edu 37 14 70234854 70234854 + Splice_Site SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001039465.1 +1 validated e1-1 0.907 158 0.6% 408 35% 7 85.7% - - - - SRSF5 6430 genome.wustl.edu 37 14 70235601 70235601 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001039465.1 +1 validated p.R95Q 1.000 134 0.7% 245 31% 131 56.4% benign(0.072) tolerated(0.38) neutral(0.023) superfamily_RNA-binding domain RBD SMOC1 64093 genome.wustl.edu 37 14 70489920 70489920 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001034852.1 +1 validated p.R349 1.000 85 0% 112 36.6% 0 - - - - superfamily_EF-hand SLC8A3 6547 genome.wustl.edu 37 14 70633370 70633370 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_183002.1 -1 reviewed p.K590 1.000 212 0% 212 29.7% 2 50% - - - HMMPfam_Calx-beta,HMMSmart_SM00237 ENSG00000235812 0 genome.wustl.edu 37 14 70713401 70713401 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000433248 -1 known p.N156T 0.005 231 0% 318 26.7% 0 - - - - "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" ADAM21 8747 genome.wustl.edu 37 14 70924525 70924525 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003813.2 +1 reviewed p.L103 0.538 164 0% 182 31.3% 0 - - - - HMMPfam_Pep_M12B_propep ADAM21 8747 genome.wustl.edu 37 14 70924745 70924745 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003813.2 +1 reviewed p.E177K 0.079 121 0% 146 32.9% 0 - benign(0.008) tolerated(0.28) neutral(0.032) NULL PCNX 22990 genome.wustl.edu 37 14 71445297 71445297 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014982.2 +1 validated p.R748Q 1.000 84 0% 163 28.8% 3 33.3% benign(0.098) tolerated(0.25) neutral(0.044) NULL SIPA1L1 26037 genome.wustl.edu 37 14 72055902 72055902 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015556.1 +1 provisional p.S438F 1.000 186 0% 234 29.9% 2 0% possibly_damaging(0.95) tolerated(0.08) deleterious(0.694) NULL SIPA1L1 26037 genome.wustl.edu 37 14 72117051 72117051 + Splice_Site SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015556.1 +1 provisional e4-1 1.000 131 0% 143 33.6% 0 - - - - - SIPA1L1 26037 genome.wustl.edu 37 14 72117198 72117198 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015556.1 +1 provisional p.E655D 1.000 135 0.7% 139 29.5% 4 0% benign(0.001) tolerated(0.41) neutral(0.015) HMMPfam_Rap_GAP,superfamily_Rap/Ran-GAP (Pfam 02145) DPF3 8110 genome.wustl.edu 37 14 73190365 73190365 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012074.3 -1 provisional p.K167N 1.000 652 0% 815 34.2% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL DCAF4 26094 genome.wustl.edu 37 14 73413872 73413872 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015604.3 +1 reviewed p.S234L 1.000 149 0% 245 36.3% 15 53.3% probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_WD40 repeat-like PSEN1 5663 genome.wustl.edu 37 14 73653605 73653605 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000021.3 +1 reviewed p.F175L 1.000 415 0.2% 696 29.9% 30 43.3% probably_damaging(0.973) deleterious(0.01) deleterious(0.821) HMMPfam_Presenilin,HMMSmart_SM00730 PAPLN 89932 genome.wustl.edu 37 14 73732154 73732154 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173462.3 +1 validated p.E1041K 0.122 43 0% 30 56.7% 5 0% probably_damaging(0.954) tolerated(0.84) neutral(0.398) HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 DNAL1 83544 genome.wustl.edu 37 14 74154059 74154059 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031427.2 +1 validated p.Y121C 1.000 120 0% 203 37.4% 10 30% probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMSmart_SM00365,superfamily_L domain-like COQ6 51004 genome.wustl.edu 37 14 74422206 74422206 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182476.1 +1 validated p.R117 0.678 298 0% 486 36.2% 18 38.8% - - - HMMPfam_FAD_binding_3,superfamily_SSF51905 COQ6 51004 genome.wustl.edu 37 14 74424864 74424864 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182476.1 +1 validated p.L166I 1.000 77 0% 167 35.9% 16 68.7% possibly_damaging(0.925) tolerated(0.25) neutral(0.410) HMMPfam_FAD_binding_3,superfamily_SSF51905 C14orf45 80127 genome.wustl.edu 37 14 74522318 74522318 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025057.2 +1 validated p.D440Y 1.000 176 0% 365 31.8% 4 75% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ABCD4 5826 genome.wustl.edu 37 14 74753136 74753136 + RNA SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NR_003256.2 -1 reviewed NULL 0.001 30 0% 40 25% 62 37% benign(0.007) deleterious(0.02) neutral(0.383) - KIAA0317 9870 genome.wustl.edu 37 14 75134250 75134250 + Silent SNP C C T rs139207671 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001039479.1 -1 validated p.A654 0.404 145 0.7% 246 26.4% 9 22.2% - - - HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain YLPM1 56252 genome.wustl.edu 37 14 75265136 75265136 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019589.2 +1 validated p.S1046G 0.001 99 0% 240 40.8% 21 38% benign(0.001) tolerated(0.11) neutral(0.272) NULL YLPM1 56252 genome.wustl.edu 37 14 75283371 75283371 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019589.2 +1 validated p.S1888Y 1.000 88 0% 170 32.9% 29 41.3% probably_damaging(0.98) deleterious(0) deleterious(0.869) superfamily_P-loop containing nucleoside triphosphate hydrolases PROX2 283571 genome.wustl.edu 37 14 75321889 75321889 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080408.1 -1 provisional p.S575 0.984 177 0% 197 28.4% 0 - - - - HMMPfam_Prox1,superfamily_Homeodomain-like RPS6KL1 83694 genome.wustl.edu 37 14 75376665 75376665 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031464.3 -1 validated p.S253Y 0.967 104 0% 157 38.9% 0 - possibly_damaging(0.834) deleterious(0) deleterious(0.762) superfamily_Kinase_like MLH3 27030 genome.wustl.edu 37 14 75515686 75515686 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001040108.1 -1 reviewed p.E225* 1.000 71 0% 89 20.2% 1 0% - - - HMMPfam_DNA_mis_repair,superfamily_Ribosomal protein S5 domain 2-like ZC2HC1C 79696 genome.wustl.edu 37 14 75538273 75538273 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024643.2 +1 validated p.A333S 0.988 58 0% 133 36.1% 5 60% possibly_damaging(0.949) deleterious(0.03) deleterious(0.758) NULL NEK9 91754 genome.wustl.edu 37 14 75576490 75576490 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033116.4 -1 validated p.Q360H 1.000 59 0% 108 44.4% 16 18.7% benign(0.192) tolerated(0.13) neutral(0.271) superfamily_RCC1/BLIP-II FLVCR2 55640 genome.wustl.edu 37 14 76045470 76045470 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017791.2 +1 validated p.S52L 0.078 211 0% 279 33.3% 1 0% possibly_damaging(0.87) deleterious(0.03) deleterious(0.703) NULL TTLL5 23093 genome.wustl.edu 37 14 76286442 76286442 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015072.4 +1 reviewed p.P1088 0.001 101 0% 156 33.3% 32 50% - - - NULL C14orf118 55668 genome.wustl.edu 37 14 76647116 76647116 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017926.2 +1 validated p.L373M 0.492 345 0% 463 31.7% 9 11.1% probably_damaging(1) tolerated(0.19) deleterious(0.549) NULL ANGEL1 23357 genome.wustl.edu 37 14 77269825 77269825 + Splice_Site SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015305.3 -1 validated e7-1 1.000 63 0% 76 25% 0 - - - - - C14orf166B 145497 genome.wustl.edu 37 14 77294739 77294739 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_194287.2 +1 validated p.S65L 0.867 67 0% 101 33.7% 0 - probably_damaging(0.958) tolerated(0.28) neutral(0.433) NULL TMEM63C 57156 genome.wustl.edu 37 14 77706878 77706878 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020431.2 +1 validated p.E331K 1.000 50 0% 50 32% 0 - probably_damaging(0.999) tolerated(0.18) deleterious(0.546) NULL TMEM63C 57156 genome.wustl.edu 37 14 77712997 77712997 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020431.2 +1 validated p.E527 0.134 273 0% 362 34% 0 - - - - HMMPfam_DUF221 GSTZ1 2954 genome.wustl.edu 37 14 77796097 77796097 + Splice_Site SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145870.2 +1 reviewed e7-1 1.000 123 0% 157 28.7% 0 - - - - - SAMD15 161394 genome.wustl.edu 37 14 77844087 77844087 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001010860.1 +1 provisional p.S109L 0.001 59 0% 156 25% 3 100% possibly_damaging(0.553) deleterious(0.01) deleterious(0.594) NULL NOXRED1 122945 genome.wustl.edu 37 14 77880306 77880306 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001113475.1 -1 validated p.R107Q 0.994 68 0% 108 36.1% 2 0% benign(0.364) tolerated(0.33) neutral(0.140) HMMPfam_F420_oxidored,superfamily_NAD(P)-bd C14orf133 63894 genome.wustl.edu 37 14 77893974 77893974 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022067.2 -1 provisional p.I489 1.000 111 0% 188 36.7% 25 40% - - - HMMPfam_Golgin_A5 SLIRP 81892 genome.wustl.edu 37 14 78174474 78174474 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031210.4 +1 validated p.R7K 0.000 104 0% 169 34.9% 179 42.4% unknown(0) tolerated(0.7) - NULL ADCK1 57143 genome.wustl.edu 37 14 78374153 78374153 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020421.3 +1 validated p.R250Q 0.000 112 0% 207 36.2% 1 100% benign(0.014) tolerated(0.08) neutral(0.300) HMMPfam_ABC1,superfamily_Kinase_like NRXN3 9369 genome.wustl.edu 37 14 79117611 79117611 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004796.4 +1 reviewed p.S15I 1.000 170 0% 136 35.3% 0 - possibly_damaging(0.917) deleterious(0) deleterious(0.812) superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 NRXN3 9369 genome.wustl.edu 37 14 79181309 79181309 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004796.4 +1 reviewed p.R251Q 1.000 61 0% 92 34.8% 0 - benign(0.139) tolerated(0.1) neutral(0.298) superfamily_ConA_like_lec_gl NRXN3 9369 genome.wustl.edu 37 14 79746790 79746790 + Missense_Mutation SNP C C G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001105250.1 +1 reviewed p.H52Q 1.000 298 0% 385 35.3% 2 0% benign(0) tolerated(0.31) neutral(0.027) NULL TSHR 7253 genome.wustl.edu 37 14 81574911 81574911 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142626.2 +1 reviewed p.V237 0.001 286 0% 372 33.1% 0 - - - - superfamily_L domain-like TSHR 7253 genome.wustl.edu 37 14 81610267 81610267 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000369.2 +1 reviewed p.I622T 1.000 218 0% 369 20.3% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like STON2 85439 genome.wustl.edu 37 14 81743400 81743400 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033104.2 -1 provisional p.S752Y 1.000 178 0% 166 30.7% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Adap_comp_sub,superfamily_Second domain of Mu2 adaptin subunit (ap50) of ap2 adaptor FLRT2 23768 genome.wustl.edu 37 14 86088162 86088162 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013231.4 +1 reviewed p.E102K 1.000 139 0% 131 32.8% 0 - probably_damaging(0.995) deleterious(0.02) deleterious(0.841) superfamily_SSF52058 FLRT2 23768 genome.wustl.edu 37 14 86088440 86088440 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013231.4 +1 reviewed p.V194 0.994 129 0.8% 151 39.7% 2 0% - - - superfamily_SSF52058 FLRT2 23768 genome.wustl.edu 37 14 86089066 86089066 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013231.4 +1 reviewed p.S403L 0.003 129 0% 222 30.6% 0 - benign(0) tolerated(0.27) neutral(0.034) NULL FLRT2 23768 genome.wustl.edu 37 14 86089067 86089067 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013231.4 +1 reviewed p.S403 0.000 132 0% 223 32.7% 0 - - - - NULL GALC 2581 genome.wustl.edu 37 14 88407804 88407804 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000153.2 -1 reviewed p.R590I 1.000 223 0.4% 140 34.3% 6 50% probably_damaging(0.97) tolerated(0.19) neutral(0.462) HMMPfam_Glyco_hydro_59 GPR65 8477 genome.wustl.edu 37 14 88477685 88477685 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003608.3 +1 validated p.S165Y 0.004 118 0% 141 34% 1 0% probably_damaging(0.956) tolerated(1) neutral(0.400) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like GPR65 8477 genome.wustl.edu 37 14 88478056 88478056 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003608.3 +1 validated p.L289M 1.000 250 0% 196 39.3% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like KCNK10 54207 genome.wustl.edu 37 14 88729741 88729741 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138317.2 -1 reviewed p.Q69H 1.000 56 0% 95 30.5% 0 - benign(0.002) tolerated(0.07) neutral(0.319) superfamily_Voltage-gated potassium channels SPATA7 55812 genome.wustl.edu 37 14 88862513 88862513 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018418.4 +1 reviewed p.C68 1.000 112 0% 114 28.1% 5 60% - - - NULL SPATA7 55812 genome.wustl.edu 37 14 88892857 88892857 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018418.4 +1 reviewed p.S218 0.013 60 0% 58 31% 4 25% - - - NULL SPATA7 55812 genome.wustl.edu 37 14 88904509 88904509 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018418.4 +1 reviewed p.L515I 0.000 74 0% 95 37.9% 32 46.8% benign(0.261) tolerated(0.36) neutral(0.047) NULL EML5 161436 genome.wustl.edu 37 14 89124599 89124599 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_183387.2 -1 validated p.M1270R 0.809 131 0% 181 19.9% 0 - benign(0.001) tolerated(0.4) neutral(0.016) superfamily_WD40 repeat-like EML5 161436 genome.wustl.edu 37 14 89124730 89124730 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_183387.2 -1 validated p.G1226 1.000 73 0% 91 29.7% 0 - - - - superfamily_WD40 repeat-like EML5 161436 genome.wustl.edu 37 14 89181303 89181303 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_183387.2 -1 validated p.R475I 1.000 151 0% 103 34% 0 - possibly_damaging(0.949) deleterious(0.02) deleterious(0.776) HMMSmart_SM00320,superfamily_WD40 repeat-like PSMC1 5700 genome.wustl.edu 37 14 90735888 90735888 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002802.2 +1 reviewed p.R343S 0.997 313 0% 620 32.4% 185 42.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00382,HMMPfam_AAA,PatternScan_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases C14orf102 55051 genome.wustl.edu 37 14 90769176 90769176 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017970.2 -1 validated p.S433 0.002 80 0% 142 32.4% 3 33.3% - - - HMMPfam_DUF1740,superfamily_Prenyl_trans C14orf102 55051 genome.wustl.edu 37 14 90783068 90783068 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017970.2 -1 validated p.K87N 1.000 146 0% 237 30.8% 0 - probably_damaging(0.999) tolerated(0.22) deleterious(0.532) NULL TTC7B 145567 genome.wustl.edu 37 14 91059889 91059889 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001010854.1 -1 provisional p.A683V 0.998 69 0% 81 37% 14 42.8% benign(0) tolerated(1) - superfamily_TPR-like TTC7B 145567 genome.wustl.edu 37 14 91119239 91119239 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001010854.1 -1 provisional p.S488Y 1.000 129 0% 201 13.9% 4 0% probably_damaging(0.976) tolerated(0.32) neutral(0.442) superfamily_TPR-like TTC7B 145567 genome.wustl.edu 37 14 91142892 91142892 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001010854.1 -1 provisional p.R376K 1.000 98 0% 145 39.3% 8 25% probably_damaging(0.982) tolerated(0.94) neutral(0.426) superfamily_TPR-like RPS6KA5 9252 genome.wustl.edu 37 14 91360761 91360761 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004755.2 -1 validated p.P547H 1.000 148 0% 185 33% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_S_TKc,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,HMMPfam_Pkinase CCDC88C 440193 genome.wustl.edu 37 14 91739846 91739846 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080414.2 -1 validated p.A1737V 0.000 34 0% 61 36.1% 24 75% benign(0) tolerated(0.95) - NULL CCDC88C 440193 genome.wustl.edu 37 14 91774698 91774698 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080414.2 -1 validated p.Q1001H 0.838 261 0% 519 34.7% 12 58.3% benign(0.159) tolerated(0.18) neutral(0.070) NULL CCDC88C 440193 genome.wustl.edu 37 14 91804433 91804433 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080414.2 -1 validated p.A322 0.010 55 0% 71 25.4% 7 57.1% - - - NULL CATSPERB 79820 genome.wustl.edu 37 14 92159551 92159551 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024764.2 -1 validated p.T250 0.992 136 0% 187 30.5% 0 - - - - NULL TRIP11 9321 genome.wustl.edu 37 14 92460183 92460183 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004239.3 -1 reviewed p.E1710D 0.969 369 0% 452 30.5% 24 37.5% benign(0.061) tolerated(0.48) neutral(0.015) NULL TRIP11 9321 genome.wustl.edu 37 14 92471286 92471286 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004239.3 -1 reviewed p.D1012Y 1.000 135 0% 124 29% 2 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TRIP11 9321 genome.wustl.edu 37 14 92480618 92480618 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004239.3 -1 reviewed p.R376I 0.000 203 0% 335 27.8% 2 100% benign(0.08) tolerated(0.07) neutral(0.325) NULL TRIP11 9321 genome.wustl.edu 37 14 92488059 92488059 + Silent SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004239.3 -1 reviewed p.S143 0.000 104 0% 143 32.9% 1 0% - - - NULL CPSF2 53981 genome.wustl.edu 37 14 92600494 92600494 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017437.1 +1 validated p.F97L 1.000 294 0% 575 31.7% 15 40% probably_damaging(0.979) deleterious(0.01) deleterious(0.828) superfamily_Metallo-hydrolase/oxidoreductase CPSF2 53981 genome.wustl.edu 37 14 92608529 92608529 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017437.1 +1 validated p.R228Q 1.000 213 0% 404 30% 22 50% probably_damaging(0.979) deleterious(0.01) deleterious(0.828) superfamily_Metallo-hydrolase/oxidoreductase SLC24A4 123041 genome.wustl.edu 37 14 92792260 92792260 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153646.2 +1 validated p.R43K 1.000 110 0% 217 30.4% 0 - benign(0.146) tolerated(0.36) neutral(0.033) NULL LGMN 5641 genome.wustl.edu 37 14 93185138 93185138 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001008530.1 -1 reviewed p.E64K 1.000 234 0% 418 34.4% 112 29.4% benign(0.052) deleterious(0) neutral(0.448) HMMPfam_Peptidase_C13 UBR7 55148 genome.wustl.edu 37 14 93684946 93684946 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_175748.3 +1 validated p.K225 0.025 53 0% 222 34.7% 14 42.8% - - - NULL UNC79 57578 genome.wustl.edu 37 14 94044259 94044259 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020818.3 +1 validated p.Q584H 1.000 215 0% 292 35.3% 0 - benign(0) tolerated(0.12) neutral(0.261) NULL UNC79 57578 genome.wustl.edu 37 14 94088662 94088662 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020818.3 +1 validated p.D1518Y 1.000 73 0% 105 43.8% 0 - possibly_damaging(0.906) deleterious(0.01) deleterious(0.765) NULL UNC79 57578 genome.wustl.edu 37 14 94088923 94088923 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020818.3 +1 validated p.G1605W 0.981 61 0% 91 27.5% 0 - possibly_damaging(0.816) deleterious(0) deleterious(0.753) NULL UNC79 57578 genome.wustl.edu 37 14 94089018 94089018 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020818.3 +1 validated p.Q1636 1.000 92 0% 146 29.5% 0 - - - - NULL UNC79 57578 genome.wustl.edu 37 14 94125564 94125564 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020818.3 +1 validated p.I2023S 1.000 194 0% 164 37.8% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL UNC79 57578 genome.wustl.edu 37 14 94129017 94129017 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020818.3 +1 validated p.Y2060C 1.000 229 0% 231 30.7% 0 - benign(0.167) tolerated(0.19) neutral(0.065) NULL FAM181A 90050 genome.wustl.edu 37 14 94394670 94394670 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138344.3 +1 predicted p.F75 0.819 74 0% 55 32.7% 0 - - - - NULL PPP4R4 57718 genome.wustl.edu 37 14 94744971 94744971 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_058237.1 +1 reviewed p.S871 1.000 151 0% 169 28.4% 0 - - - - NULL SERPINA10 51156 genome.wustl.edu 37 14 94752574 94752574 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001100607.1 -1 reviewed p.P338 0.846 136 0% 167 26.9% 0 - - - - HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin SERPINA6 866 genome.wustl.edu 37 14 94780383 94780383 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001756.3 -1 reviewed p.I201 1.000 149 0% 181 30.9% 0 - - - - HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins DICER1 23405 genome.wustl.edu 37 14 95562931 95562931 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030621.3 -1 reviewed p.F1442L 0.983 172 0.6% 187 35.3% 3 33.3% benign(0) tolerated(0.86) neutral(0.001) HMMPfam_Ribonuclease_3,HMMSmart_RIBOc,superfamily_RNase_III CLMN 79789 genome.wustl.edu 37 14 95669414 95669414 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024734.3 -1 validated p.E758K 0.003 79 0% 94 31.9% 1 0% probably_damaging(0.958) deleterious(0) deleterious(0.846) NULL CLMN 79789 genome.wustl.edu 37 14 95670711 95670711 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024734.3 -1 validated p.V325 0.869 200 0% 329 27.4% 3 66.6% - - - NULL ATG2B 55102 genome.wustl.edu 37 14 96782950 96782950 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018036.5 -1 validated p.F1094C 1.000 186 0% 244 41.4% 1 0% possibly_damaging(0.614) deleterious(0) deleterious(0.657) NULL ATG2B 55102 genome.wustl.edu 37 14 96791988 96791988 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018036.5 -1 validated p.I812T 0.004 98 0% 126 34.9% 0 - benign(0) tolerated(0.53) neutral(0.007) NULL AK7 122481 genome.wustl.edu 37 14 96912866 96912866 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152327.2 +1 validated p.N264 0.943 128 0% 291 37.1% 1 0% - - - superfamily_NAD(P)-binding Rossmann-fold domains AK7 122481 genome.wustl.edu 37 14 96917830 96917830 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152327.2 +1 validated p.R341* 0.515 133 0% 279 27.6% 1 0% - - - NULL PAPOLA 10914 genome.wustl.edu 37 14 96993812 96993812 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032632.3 +1 validated p.R126Q 1.000 508 0% 859 33.8% 44 15.9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_NTP_transf_2,HMMPfam_PAP_central,superfamily_Nucleotidyltransferase PAPOLA 10914 genome.wustl.edu 37 14 96998943 96998943 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032632.3 +1 validated p.A265S 1.000 244 0% 308 27.9% 40 27.5% probably_damaging(0.974) deleterious(0.03) deleterious(0.780) HMMPfam_PAP_central,superfamily_PAP/OAS1 substrate-binding domain BCL11B 64919 genome.wustl.edu 37 14 99640520 99640520 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138576.2 -1 reviewed p.D885N 1.000 89 0% 105 41% 0 - possibly_damaging(0.722) deleterious(0) deleterious(0.707) NULL BCL11B 64919 genome.wustl.edu 37 14 99640563 99640563 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138576.2 -1 reviewed p.E870D 1.000 106 0% 119 30.3% 0 - possibly_damaging(0.892) deleterious(0.03) deleterious(0.716) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers BCL11B 64919 genome.wustl.edu 37 14 99641778 99641778 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138576.2 -1 reviewed p.S465 1.000 18 0% 34 23.5% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CYP46A1 10858 genome.wustl.edu 37 14 100157430 100157430 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000380228 +1 known p.D1A 1.000 590 0% 970 30.4% 0 - - - - NULL EML1 2009 genome.wustl.edu 37 14 100364580 100364580 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001008707.1 +1 reviewed p.H299N 1.000 140 0% 218 34.4% 2 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 EML1 2009 genome.wustl.edu 37 14 100402649 100402649 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001008707.1 +1 reviewed p.S710 0.540 132 0% 178 29.2% 3 0% - - - HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 WARS 7453 genome.wustl.edu 37 14 100809663 100809663 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004184.3 -1 reviewed p.I296 1.000 136 0% 342 34.5% 82 29.2% - - - superfamily_Nucleotidylyl transferase DLK1 8788 genome.wustl.edu 37 14 101200652 101200652 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003836.5 +1 reviewed p.D191N 0.998 31 0% 21 28.6% 0 - benign(0.358) tolerated(0.09) neutral(0.410) PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,superfamily_EGF/Laminin DLK1 8788 genome.wustl.edu 37 14 101201122 101201122 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003836.5 +1 reviewed p.K347N 1.000 55 0% 68 29.4% 1 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL RTL1 388015 genome.wustl.edu 37 14 101347454 101347454 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001134888.2 -1 reviewed p.V1224 0.814 24 0% 36 33.3% 0 - - - - NULL RTL1 388015 genome.wustl.edu 37 14 101348639 101348639 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001134888.2 -1 reviewed p.I829 0.012 82 0% 129 25.6% 0 - - - - superfamily_DNA/RNA polymerases RTL1 388015 genome.wustl.edu 37 14 101349704 101349704 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001134888.2 -1 reviewed p.L474 0.425 53 1.9% 63 28.6% 0 - - - - superfamily_Acid proteases MIR487A 619555 genome.wustl.edu 37 14 101518815 101518815 + RNA SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000384827 +1 known NULL 1.000 280 0% 329 33.1% 0 - - - - - MIR668 768214 genome.wustl.edu 37 14 101521639 101521639 + RNA SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000390172 +1 known NULL 1.000 135 0.7% 176 35.2% 0 - - - - - MIR410 574434 genome.wustl.edu 37 14 101532282 101532282 + RNA SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000362222 +1 known NULL 1.000 151 0% 150 26.7% 0 - - - - - DYNC1H1 1778 genome.wustl.edu 37 14 102471265 102471265 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001376.4 +1 reviewed p.I1739T 1.000 105 0% 230 30.4% 26 46.1% benign(0.008) tolerated(0.49) neutral(0.011) NULL DYNC1H1 1778 genome.wustl.edu 37 14 102471270 102471270 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001376.4 +1 reviewed p.W1741R 1.000 105 1% 220 32.3% 29 37.9% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL DYNC1H1 1778 genome.wustl.edu 37 14 102489091 102489091 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001376.4 +1 reviewed p.L2837 0.035 86 0% 184 39.1% 38 42.1% - - - superfamily_SSF52540 DYNC1H1 1778 genome.wustl.edu 37 14 102506938 102506938 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001376.4 +1 reviewed p.F3957V 1.000 94 0% 163 34.4% 181 49.1% benign(0.003) tolerated(0.18) neutral(0.056) HMMPfam_Dynein_heavy TECPR2 9895 genome.wustl.edu 37 14 102874905 102874905 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014844.3 +1 validated p.F143L 1.000 243 0% 462 32.5% 2 0% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMSmart_WD40,superfamily_WD40_like CDC42BPB 9578 genome.wustl.edu 37 14 103412928 103412928 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006035.3 -1 reviewed p.L1209I 0.989 90 0% 133 40.6% 45 44.4% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 TNFAIP2 7127 genome.wustl.edu 37 14 103592878 103592878 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006291.2 +1 reviewed p.K28N 0.664 20 0% 30 30% 26 57.6% probably_damaging(0.989) tolerated(0.06) deleterious(0.762) NULL MARK3 4140 genome.wustl.edu 37 14 103958316 103958316 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001128918.1 +1 validated p.R597* 1.000 89 0% 206 27.7% 59 35.5% - - - NULL BAG5 9529 genome.wustl.edu 37 14 104027382 104027382 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001015049.1 -1 reviewed p.K81N 1.000 91 0% 140 30.7% 12 41.6% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMPfam_BAG,HMMSmart_SM00264,superfamily_BAG domain KLC1 3831 genome.wustl.edu 37 14 104151352 104151352 + Missense_Mutation SNP C C G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005552.4 +1 reviewed p.N560K 0.995 49 0% 90 35.6% 54 53.7% benign(0.35) deleterious(0) deleterious(0.555) NULL PPP1R13B 23368 genome.wustl.edu 37 14 104208176 104208176 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015316.2 -1 reviewed p.K591N 1.000 457 0% 759 32% 6 16.6% benign(0.183) tolerated(0.06) neutral(0.340) NULL TDRD9 122402 genome.wustl.edu 37 14 104471720 104471720 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153046.2 +1 validated p.R564H 0.997 142 0% 225 38.7% 0 - probably_damaging(0.999) deleterious(0.05) deleterious(0.836) HMMPfam_HA2,superfamily_P-loop containing nucleoside triphosphate hydrolases ASPG 374569 genome.wustl.edu 37 14 104559689 104559689 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000299234 +1 known p.R46I 0.003 16 0% 19 31.6% 0 - unknown(0) tolerated(0.08) - NULL ASPG 374569 genome.wustl.edu 37 14 104571780 104571780 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080464.1 +1 provisional p.G389V 0.011 59 0% 51 27.5% 1 0% benign(0.097) tolerated(0.12) neutral(0.268) superfamily_Ankyrin repeat KIF26A 26153 genome.wustl.edu 37 14 104641488 104641488 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015656.1 +1 validated p.D788G 1.000 43 0% 33 30.3% 2 50% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL INF2 64423 genome.wustl.edu 37 14 105179293 105179293 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022489.3 +1 validated p.M913I 1.000 23 0% 27 18.5% 8 0% - - - HMMSmart_SM00498,HMMPfam_FH2,superfamily_Formin homology 2 domain (FH2 domain) INF2 64423 genome.wustl.edu 37 14 105180753 105180753 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022489.3 +1 validated p.V1085G 0.179 85 0% 91 19.8% 12 0% unknown(0) deleterious(0.01) - NULL ADSSL1 122622 genome.wustl.edu 37 14 105205665 105205665 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_199165.1 +1 validated p.G163D 1.000 73 0% 99 30.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Adenylsucc_synt,HMMSmart_Adenylsucc_synt,superfamily_SSF52540 ADSSL1 122622 genome.wustl.edu 37 14 105211161 105211161 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_199165.1 +1 validated p.T405 0.989 149 0.7% 191 38.7% 3 0% - - - HMMPfam_Adenylsucc_synt,HMMSmart_Adenylsucc_synt,superfamily_SSF52540 AHNAK2 113146 genome.wustl.edu 37 14 105405320 105405320 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138420.2 -1 validated p.L5490F 0.000 77 0% 126 32.5% 4 100% probably_damaging(0.982) - - NULL AHNAK2 113146 genome.wustl.edu 37 14 105407859 105407859 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138420.2 -1 validated p.K4643N 0.192 50 0% 66 36.4% 2 50% possibly_damaging(0.723) tolerated(0.16) neutral(0.322) NULL AHNAK2 113146 genome.wustl.edu 37 14 105407900 105407900 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138420.2 -1 validated p.G4630* 0.148 49 0% 68 33.8% 2 50% - - - NULL AHNAK2 113146 genome.wustl.edu 37 14 105413085 105413085 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138420.2 -1 validated p.M2901I 1.000 125 0% 232 31.5% 1 100% benign(0.126) tolerated(0.06) neutral(0.333) NULL AHNAK2 113146 genome.wustl.edu 37 14 105419825 105419825 + Nonsense_Mutation SNP T T A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138420.2 -1 validated p.K655* 0.000 318 0% 630 38.3% 2 50% - - - NULL JAG2 3714 genome.wustl.edu 37 14 105617714 105617714 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002226.3 -1 reviewed p.S391 0.951 25 0% 31 16.1% 5 0% - - - HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_CA,superfamily_EGF/Laminin PACS2 23241 genome.wustl.edu 37 14 105843228 105843228 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001100913.1 +1 validated p.D309N 1.000 28 0% 28 39.3% 36 47.2% possibly_damaging(0.773) tolerated(0.08) deleterious(0.587) NULL PACS2 23241 genome.wustl.edu 37 14 105856305 105856305 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001100913.1 +1 validated p.E670K 1.000 167 0% 258 29.5% 44 4.5% benign(0.033) deleterious(0.02) neutral(0.385) HMMPfam_Pacs-1 IGHE 3497 genome.wustl.edu 37 14 106066538 106066538 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000390541 -1 known p.F384L 0.613 63 0% 65 13.8% 0 - probably_damaging(1) deleterious(0.05) deleterious(0.845) HMMPfam_C1-set,HMMSmart_IGc1,superfamily_SSF48726 IGHE 3497 genome.wustl.edu 37 14 106066712 106066712 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000390541 -1 known p.V326 0.008 33 0% 27 33.3% 0 - - - - superfamily_SSF48726 IGHG4 3503 genome.wustl.edu 37 14 106090826 106090826 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000390543 -1 known p.S324Y 0.178 365 0% 444 16% 60 0% possibly_damaging(0.944) deleterious(0) deleterious(0.833) NULL IGHG2 3501 genome.wustl.edu 37 14 106110141 106110141 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000390545 -1 known p.D159 0.000 361 0% 566 23.5% 499 0.2% - - - HMMPfam_C1-set,superfamily_SSF48726 IGHM 3507 genome.wustl.edu 37 14 106322268 106322268 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000496208 -1 known p.S18L 0.000 91 0% 177 33.3% 60 0% benign(0.314) tolerated(0.06) neutral(0.420) HMMPfam_C1-set,superfamily_Immunoglobulin IGHV3-7 28452 genome.wustl.edu 37 14 106518523 106518523 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000390598 -1 known p.E76D 0.000 419 0% 320 36.6% 6 0% benign(0) tolerated(0.46) neutral(0.012) HMMSmart_SM00406,HMMPfam_V-set,superfamily_Immunoglobulin IGHV3-13 28449 genome.wustl.edu 37 14 106586556 106586556 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000390602 -1 known p.V11A 0.002 332 0% 448 33.7% 1 0% benign(0.037) tolerated(0.05) neutral(0.347) NULL IGHV3-20 28445 genome.wustl.edu 37 14 106667705 106667705 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000390606 -1 known p.S76N 0.000 216 0% 220 32.3% 1 0% benign(0) tolerated(0.48) neutral(0.011) HMMSmart_IGv,HMMPfam_V-set,superfamily_SSF48726 IGHV@ 3509 genome.wustl.edu 37 14 106725383 106725383 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000390609 -1 known p.R57C 0.975 433 0% 456 16% 20 0% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMSmart_SM00406,HMMPfam_V-set,superfamily_Immunoglobulin IGHV4-28 28400 genome.wustl.edu 37 14 106780690 106780690 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000390612 -1 known p.R58 0.617 287 0.3% 380 30.8% 0 - - - - HMMSmart_IGv,HMMPfam_V-set,superfamily_SSF48726 IGHV3-38 28429 genome.wustl.edu 37 14 106866621 106866621 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000390618 -1 known p.G45* 1.000 303 0.3% 342 20.5% 0 - - - - HMMSmart_IGv,HMMPfam_V-set,superfamily_SSF48726 IGHV4-39 28394 genome.wustl.edu 37 14 106877743 106877743 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000390619 -1 known p.S84N 0.000 303 0% 371 17.5% 10 10% benign(0) tolerated(0.35) neutral(0.021) HMMSmart_SM00406,HMMPfam_V-set,superfamily_Immunoglobulin IGHV1-45 28466 genome.wustl.edu 37 14 106963094 106963094 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000390621 -1 known p.A63V 0.120 328 0% 414 35.7% 0 - benign(0.045) deleterious(0.01) neutral(0.408) HMMSmart_IGv,HMMPfam_V-set,superfamily_SSF48726 IGHV1-45 28466 genome.wustl.edu 37 14 106963236 106963236 + Splice_Site SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000390621 -1 known e2-1 1.000 284 0% 384 32.6% 0 - - - - - IGHV3-48 28424 genome.wustl.edu 37 14 106993880 106993880 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000390624 -1 known p.K95N 0.816 212 0% 227 29.1% 5 0% benign(0.02) tolerated(0.09) neutral(0.297) HMMSmart_IGv,HMMPfam_V-set,superfamily_SSF48726 IGHV5-51 28388 genome.wustl.edu 37 14 107034804 107034804 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000390626 -1 known p.D92 0.083 318 0% 356 24.2% 15 0% - - - HMMSmart_IGv,HMMPfam_V-set,superfamily_SSF48726 IGHV4-61 28391 genome.wustl.edu 37 14 107095286 107095286 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000390630 -1 known p.G65E 0.998 200 0% 273 44.7% 0 - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMSmart_IGv,HMMPfam_V-set,superfamily_SSF48726 ENSG00000231400 0 genome.wustl.edu 37 15 20362794 20362794 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000442923 +1 known p.D19G 1.000 236 0% 364 13.5% 0 - - - - HMMPfam_DUF663 ENSG00000215407 0 genome.wustl.edu 37 15 20457376 20457376 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000400226 -1 known p.L171F 0.998 125 0% 253 11.1% 0 - - - - HMMPfam_BRO1 LOC646096 646096 genome.wustl.edu 37 15 20488775 20488775 + RNA SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XR_040858.2 +1 model NULL 1.000 106 0% 238 11.8% 0 - - - - - OR4M2 390538 genome.wustl.edu 37 15 22368606 22368606 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004719.2 +1 validated p.E11* 0.998 354 0% 246 24.8% 0 - - - - superfamily_Family A G protein-coupled receptor-like OR4M2 390538 genome.wustl.edu 37 15 22368936 22368936 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004719.2 +1 validated p.D121Y 1.000 551 0.2% 437 16% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR4M2 390538 genome.wustl.edu 37 15 22369160 22369160 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004719.2 +1 validated p.E195D 0.507 718 0% 668 21.4% 0 - possibly_damaging(0.811) deleterious(0) deleterious(0.750) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR4N4 283694 genome.wustl.edu 37 15 22383243 22383243 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005241.1 +1 provisional p.I257 0.345 144 0% 188 39.9% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 GOLGA6L1 283767 genome.wustl.edu 37 15 22742776 22742776 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001001413.3 +1 provisional p.H387 0.003 390 0% 490 25.5% 0 - - - - NULL TUBGCP5 114791 genome.wustl.edu 37 15 22866943 22866943 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001102610.1 +1 validated p.I820M 1.000 267 0% 388 37.4% 7 14.2% probably_damaging(0.991) tolerated(0.13) deleterious(0.697) HMMPfam_Spc97_Spc98 GOLGA8IP 283796 genome.wustl.edu 37 15 23259292 23259292 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000450802 +1 known p.E116* 0.909 98 0% 135 25.2% 0 - - - - NULL GOLGA8IP 283796 genome.wustl.edu 37 15 23264856 23264856 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000450802 +1 known p.R487I 1.000 85 0% 130 16.2% 0 - probably_damaging(0.993) deleterious(0.01) deleterious(0.856) NULL ENSG00000223681 0 genome.wustl.edu 37 15 23329979 23329979 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000422607 -1 known p.R22* 0.997 502 0% 855 13.1% 5 0% - - - NULL LOC653061 653061 genome.wustl.edu 37 15 23609579 23609579 + Missense_Mutation SNP G G T rs4036684 TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002343324.1 +1 model p.E483D 1.000 83 0% 145 34.5% 0 - - - - NULL LOC283685 283685 genome.wustl.edu 37 15 23685541 23685541 + Frame_Shift_Del DEL C C - novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002343322.1 -1 model p.E624fs 0.011 - - - - - - - - - NULL MKRN3 7681 genome.wustl.edu 37 15 23811283 23811283 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005664.3 +1 reviewed p.S118 0.086 45 0% 31 22.6% 0 - - - - HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1 MKRN3 7681 genome.wustl.edu 37 15 23811982 23811982 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005664.3 +1 reviewed p.R351 0.192 137 0% 185 30.8% 0 - - - - HMMSmart_RING,HMMPfam_zf-C3HC4,superfamily_SSF57850 NDN 4692 genome.wustl.edu 37 15 23931585 23931585 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002487.2 -1 reviewed p.F260L 1.000 25 0% 21 19% 23 0% benign(0.406) tolerated(0.2) neutral(0.179) HMMPfam_MAGE NDN 4692 genome.wustl.edu 37 15 23932116 23932116 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002487.2 -1 reviewed p.P83 0.007 7 0.000 9 0.556 0 - - - - NULL C15orf2 23742 genome.wustl.edu 37 15 24921682 24921682 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018958.2 +1 reviewed p.E223G 0.000 24 0% 26 30.8% 0 - probably_damaging(0.982) deleterious(0.01) deleterious(0.832) NULL C15orf2 23742 genome.wustl.edu 37 15 24924262 24924262 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018958.2 +1 reviewed p.S1083Y 0.000 97 0% 131 30.5% 0 - probably_damaging(0.997) - - NULL SNURF 8926 genome.wustl.edu 37 15 25207304 25207304 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005678.3 +1 reviewed p.E20* 0.997 91 0% 158 36.7% 245 0% - - - HMMPfam_SNURF ATP10A 57194 genome.wustl.edu 37 15 25924600 25924600 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024490.3 -1 reviewed p.A1463V 0.090 40 0% 52 36.5% 1 0% benign(0.001) tolerated(0.71) neutral(0.002) NULL ATP10A 57194 genome.wustl.edu 37 15 25947187 25947187 + Missense_Mutation SNP C C T rs184009994 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024490.3 -1 reviewed p.R879H 0.997 120 0% 203 34.5% 2 0% probably_damaging(1) tolerated(0.18) deleterious(0.556) superfamily_SSF56784 ATP10A 57194 genome.wustl.edu 37 15 25981250 25981250 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024490.3 -1 reviewed p.I231 0.960 110 0% 163 30.1% 1 0% - - - HMMPfam_E1-E2_ATPase,superfamily_SSF81653 ATP10A 57194 genome.wustl.edu 37 15 26026192 26026192 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024490.3 -1 reviewed p.Q210K 1.000 58 0% 105 42.9% 0 - benign(0.012) tolerated(0.15) neutral(0.241) HMMPfam_E1-E2_ATPase,superfamily_SSF81653 GABRA5 2558 genome.wustl.edu 37 15 27185078 27185078 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000810.3 +1 reviewed p.Y244C 1.000 191 0% 282 26.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD GABRA5 2558 genome.wustl.edu 37 15 27193289 27193289 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000810.3 +1 reviewed p.F433S 1.000 59 0% 63 33.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM GABRG3 2567 genome.wustl.edu 37 15 27572100 27572100 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033223.4 +1 validated p.A139T 1.000 164 0% 234 31.6% 1 0% possibly_damaging(0.606) tolerated(0.09) deleterious(0.506) HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD OCA2 4948 genome.wustl.edu 37 15 28090127 28090127 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000275.2 -1 reviewed p.F804L 1.000 87 0% 97 34% 0 - possibly_damaging(0.817) tolerated(0.39) neutral(0.325) NULL OCA2 4948 genome.wustl.edu 37 15 28234811 28234811 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000275.2 -1 reviewed p.R373I 1.000 138 0% 219 33.3% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_CitMHS OCA2 4948 genome.wustl.edu 37 15 28267671 28267671 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000275.2 -1 reviewed p.A208T 1.000 145 0% 240 28.7% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL HERC2 8924 genome.wustl.edu 37 15 28436162 28436162 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004667.4 -1 reviewed p.I2866 1.000 236 0% 374 27.5% 6 100% - - - superfamily_Galactose-binding domain-like HERC2 8924 genome.wustl.edu 37 15 28459291 28459291 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004667.4 -1 reviewed p.L2162 1.000 56 0% 113 36.3% 4 25% - - - NULL HERC2 8924 genome.wustl.edu 37 15 28499628 28499628 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004667.4 -1 reviewed p.E970* 1.000 285 0% 489 31.7% 0 - - - - NULL HERC2 8924 genome.wustl.edu 37 15 28511092 28511092 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004667.4 -1 reviewed p.A543T 0.996 56 0% 62 29% 1 100% benign(0.001) tolerated(0.19) neutral(0.050) HMMPfam_RCC1,superfamily_RCC1/BLIP-II APBA2 321 genome.wustl.edu 37 15 29393975 29393975 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005503.3 +1 reviewed p.F504 0.998 56 0% 61 39.3% 3 0% - - - HMMPfam_PID,HMMSmart_PTB,superfamily_SSF50729 TJP1 7082 genome.wustl.edu 37 15 30012599 30012599 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003257.3 -1 validated p.R909I 1.000 415 0% 643 37.2% 11 45.4% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL TJP1 7082 genome.wustl.edu 37 15 30020146 30020146 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003257.3 -1 validated p.D699Y 1.000 270 0% 321 24.9% 6 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Guanylate_kin,HMMSmart_SM00072,superfamily_P-loop containing nucleoside triphosphate hydrolases ARHGAP11B 89839 genome.wustl.edu 37 15 30927322 30927322 + Silent SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001039841.1 +1 provisional p.V197 1.000 165 0% 290 30% 0 - - - - HMMPfam_RhoGAP,HMMSmart_RhoGAP,superfamily_Rho_GAP MTMR10 54893 genome.wustl.edu 37 15 31234193 31234193 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017762.2 -1 validated p.R605I 1.000 183 0% 301 34.9% 15 33.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_(Phosphotyrosine protein) phosphatases II MTMR10 54893 genome.wustl.edu 37 15 31235126 31235126 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017762.2 -1 validated p.Q566H 0.973 231 0% 347 34% 21 28.5% benign(0.01) tolerated(0.05) neutral(0.346) superfamily_(Phosphotyrosine protein) phosphatases II TRPM1 4308 genome.wustl.edu 37 15 31325051 31325051 + Silent SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002420.4 -1 reviewed p.T909 0.965 197 0% 318 28.3% 0 - - - - HMMPfam_Ion_trans TRPM1 4308 genome.wustl.edu 37 15 31341667 31341667 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002420.4 -1 reviewed p.R473C 0.999 149 0% 211 34.6% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL TRPM1 4308 genome.wustl.edu 37 15 31355375 31355375 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002420.4 -1 reviewed p.S282I 1.000 84 0% 120 29.2% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL TRPM1 4308 genome.wustl.edu 37 15 31358373 31358373 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002420.4 -1 reviewed p.I210 1.000 349 0% 699 30.8% 0 - - - - NULL CHRNA7 1139 genome.wustl.edu 37 15 32450797 32450797 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000746.3 +1 reviewed p.K261 0.975 273 0% 291 19.6% 0 - - - - HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM FMN1 342184 genome.wustl.edu 37 15 33359906 33359906 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001103184.2 -1 validated p.F60L 0.988 86 0% 125 34.4% 2 0% unknown(0) deleterious(0) - NULL RYR3 6263 genome.wustl.edu 37 15 33795930 33795930 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001036.3 +1 validated p.G90 1.000 149 0% 149 27.5% 0 - - - - HMMPfam_Ins145_P3_rec RYR3 6263 genome.wustl.edu 37 15 33833085 33833085 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001036.3 +1 validated p.E214K 0.997 132 0% 81 32.1% 0 - benign(0.007) - - NULL RYR3 6263 genome.wustl.edu 37 15 33872323 33872323 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001036.3 +1 validated p.R472I 1.000 94 0% 148 23.6% 0 - probably_damaging(0.995) - - HMMPfam_RYDR_ITPR RYR3 6263 genome.wustl.edu 37 15 33936585 33936585 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001036.3 +1 validated p.F1210L 1.000 152 0% 212 24.5% 0 - probably_damaging(0.971) - - NULL RYR3 6263 genome.wustl.edu 37 15 34032048 34032048 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001036.3 +1 validated p.L2558I 1.000 205 0% 284 25.4% 0 - probably_damaging(0.978) - - NULL RYR3 6263 genome.wustl.edu 37 15 34080464 34080464 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001036.3 +1 validated p.R3212I 0.998 67 0% 90 40% 0 - benign(0.027) - - NULL RYR3 6263 genome.wustl.edu 37 15 34093041 34093041 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001036.3 +1 validated p.L3301M 1.000 270 0% 307 35.5% 0 - possibly_damaging(0.826) - - NULL RYR3 6263 genome.wustl.edu 37 15 34130072 34130072 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001036.3 +1 validated p.S3964L 0.999 122 0% 178 33.1% 0 - probably_damaging(0.979) - - superfamily_EF-hand AVEN 57099 genome.wustl.edu 37 15 34163147 34163147 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020371.2 -1 validated p.E201K 0.998 68 0% 98 42.9% 13 15.3% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL AVEN 57099 genome.wustl.edu 37 15 34295339 34295339 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020371.2 -1 validated p.K113N 0.998 203 0% 212 33.5% 7 14.2% probably_damaging(0.999) tolerated(0.06) deleterious(0.813) NULL CHRM5 1133 genome.wustl.edu 37 15 34354988 34354988 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012125.3 +1 validated p.R24C 0.208 172 0% 354 32.8% 2 50% possibly_damaging(0.575) deleterious(0.04) deleterious(0.546) superfamily_SSF81321 CHRM5 1133 genome.wustl.edu 37 15 34355562 34355562 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012125.3 +1 validated p.R215Q 1.000 120 0% 153 27.5% 0 - possibly_damaging(0.919) tolerated(0.17) neutral(0.428) HMMPfam_7tm_1,superfamily_SSF81321 PGBD4 161779 genome.wustl.edu 37 15 34395586 34395586 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152595.4 +1 validated p.S285Y 0.995 46 0% 91 39.6% 2 50% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL SLC12A6 9990 genome.wustl.edu 37 15 34527405 34527405 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_133647.1 -1 reviewed p.R1113Q 1.000 132 0% 201 30.8% 6 50% benign(0.349) tolerated(0.11) neutral(0.382) NULL C15orf55 256646 genome.wustl.edu 37 15 34646922 34646922 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_175741.1 +1 validated p.F423V 1.000 155 0% 375 34.9% 0 - possibly_damaging(0.602) deleterious(0) deleterious(0.653) NULL C15orf55 256646 genome.wustl.edu 37 15 34648436 34648436 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_175741.1 +1 validated p.D715N 0.000 29 0% 56 28.6% 0 - benign(0.006) tolerated(0.93) - NULL GJD2 57369 genome.wustl.edu 37 15 35046623 35046623 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020660.1 -1 provisional p.G23R 1.000 36 0% 25 16% 0 - benign(0.092) deleterious(0) neutral(0.452) HMMPfam_Connexin AQR 9716 genome.wustl.edu 37 15 35155185 35155185 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014691.2 -1 validated p.F1304 0.236 109 0% 98 33.7% 38 52.6% - - - NULL AQR 9716 genome.wustl.edu 37 15 35193001 35193001 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014691.2 -1 validated p.D689N 1.000 157 0% 269 27.1% 12 41.6% possibly_damaging(0.68) tolerated(0.19) neutral(0.292) NULL ZNF770 54989 genome.wustl.edu 37 15 35274942 35274942 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014106.2 -1 validated p.L232 1.000 103 0% 140 30% 2 50% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ATPBD4 89978 genome.wustl.edu 37 15 35747015 35747015 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_080650.3 -1 validated p.E107* 1.000 90 0% 98 34.7% 3 0% - - - HMMPfam_ATP_bind_4,superfamily_Adenine nucleotide alpha hydrolases-like MEIS2 4212 genome.wustl.edu 37 15 37388589 37388589 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_170675.2 -1 reviewed p.C96 1.000 49 0% 71 35.2% 4 25% - - - NULL SPRED1 161742 genome.wustl.edu 37 15 38631954 38631954 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152594.2 +1 reviewed p.S147Y 1.000 227 0% 234 25.2% 5 60% benign(0.002) tolerated(1) - NULL C15orf54 400360 genome.wustl.edu 37 15 39544621 39544621 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_207445.2 +1 validated p.Q95H 0.993 124 0% 89 38.2% 0 - unknown(0) - - NULL C15orf54 400360 genome.wustl.edu 37 15 39544642 39544642 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_207445.2 +1 validated p.V102 0.961 137 0% 98 25.5% 0 - - - - NULL THBS1 7057 genome.wustl.edu 37 15 39880883 39880883 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003246.2 +1 reviewed p.K543T 1.000 124 0% 190 30% 125 0% benign(0.241) tolerated(0.41) neutral(0.040) HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00179 FSIP1 161835 genome.wustl.edu 37 15 40018864 40018864 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152597.4 -1 validated p.K326Q 0.863 209 0% 270 33.3% 1 0% probably_damaging(0.98) deleterious(0.04) deleterious(0.773) NULL FSIP1 161835 genome.wustl.edu 37 15 40057895 40057895 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152597.4 -1 validated p.K121N 1.000 345 0% 387 29.5% 0 - probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL DISP2 85455 genome.wustl.edu 37 15 40659608 40659608 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033510.1 +1 reviewed p.S432F 1.000 40 0% 84 32.1% 2 50% probably_damaging(0.996) tolerated(0.7) neutral(0.464) superfamily_SSF82866 DISP2 85455 genome.wustl.edu 37 15 40661597 40661597 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033510.1 +1 reviewed p.V1095A 1.000 33 0% 44 15.9% 1 0% probably_damaging(0.98) deleterious(0) deleterious(0.869) superfamily_SSF82866 CHST14 113189 genome.wustl.edu 37 15 40764099 40764099 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_130468.3 +1 reviewed p.E229D 1.000 68 0% 77 29.9% 19 21% probably_damaging(0.996) tolerated(0.2) deleterious(0.511) HMMPfam_Sulfotransfer_2 CASC5 57082 genome.wustl.edu 37 15 40901081 40901081 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_170589.3 +1 validated p.R58* 0.983 94 0% 102 22.5% 0 - - - - NULL CASC5 57082 genome.wustl.edu 37 15 40913043 40913043 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_170589.3 +1 validated p.R220I 0.002 52 0% 128 32% 0 - possibly_damaging(0.924) deleterious(0) deleterious(0.818) NULL CASC5 57082 genome.wustl.edu 37 15 40917803 40917803 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_170589.3 +1 validated p.E1807* 0.042 46 0% 98 23.5% 0 - - - - NULL CASC5 57082 genome.wustl.edu 37 15 40920847 40920847 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_170589.3 +1 validated p.D1878Y 0.995 116 0% 249 36.1% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CASC5 57082 genome.wustl.edu 37 15 40943743 40943743 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_170589.3 +1 validated p.R2122I 0.044 138 0% 231 29.9% 4 75% possibly_damaging(0.951) tolerated(0.07) deleterious(0.713) NULL VPS18 57617 genome.wustl.edu 37 15 41191586 41191586 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020857.2 +1 reviewed p.F190 1.000 49 0% 129 28.7% 27 59.2% - - - NULL INO80 54617 genome.wustl.edu 37 15 41364122 41364122 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017553.1 -1 reviewed p.Q510 1.000 62 0% 122 45.1% 7 28.5% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases EXD1 161829 genome.wustl.edu 37 15 41488141 41488141 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152596.2 -1 provisional p.R152I 0.998 107 0% 209 37.3% 0 - possibly_damaging(0.948) deleterious(0.05) deleterious(0.736) HMMPfam_3_5_exonuc,HMMSmart_SM00474,superfamily_Ribonuclease H-like EXD1 161829 genome.wustl.edu 37 15 41488226 41488226 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152596.2 -1 provisional p.N124H 0.975 57 0% 116 32.8% 0 - probably_damaging(0.976) tolerated(0.1) deleterious(0.704) HMMPfam_3_5_exonuc,HMMSmart_SM00474,superfamily_Ribonuclease H-like NDUFAF1 51103 genome.wustl.edu 37 15 41688722 41688722 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016013.2 -1 validated p.R179Q 0.062 65 0% 159 29.6% 29 41.3% benign(0.006) tolerated(0.16) neutral(0.059) HMMPfam_CIA30 RTF1 23168 genome.wustl.edu 37 15 41750031 41750031 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015138.4 +1 validated p.E207* 1.000 134 0% 318 36.8% 10 20% - - - NULL TYRO3 7301 genome.wustl.edu 37 15 41862335 41862335 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006293.3 +1 reviewed p.R455W 1.000 88 0% 147 27.9% 13 38.4% probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL MGA 23269 genome.wustl.edu 37 15 41961356 41961356 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080541.2 +1 validated p.F88L 1.000 112 0% 300 33.7% 2 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_T-box,HMMSmart_SM00425,superfamily_p53-like transcription factors MGA 23269 genome.wustl.edu 37 15 42041074 42041074 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080541.2 +1 validated p.R1867* 1.000 162 0% 269 30.9% 9 44.4% - - - NULL MGA 23269 genome.wustl.edu 37 15 42054042 42054042 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080541.2 +1 validated p.L2551I 1.000 80 0% 141 36.2% 5 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL JMJD7-PLA2G4B 8681 genome.wustl.edu 37 15 42131057 42131057 + RNA SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NR_015346.1 +1 validated NULL 0.322 103 0% 120 34.2% 6 33.3% - - - - SPTBN5 51332 genome.wustl.edu 37 15 42142150 42142150 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016642.2 -1 validated p.S3608R 0.001 130 0% 149 29.5% 8 50% probably_damaging(0.979) deleterious(0) deleterious(0.867) HMMSmart_SM00233,superfamily_PH domain-like SPTBN5 51332 genome.wustl.edu 37 15 42144859 42144859 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016642.2 -1 validated p.E3439D 0.901 68 0% 101 27.7% 3 66.6% probably_damaging(0.966) tolerated(0.12) deleterious(0.668) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SPTBN5 51332 genome.wustl.edu 37 15 42145091 42145091 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016642.2 -1 validated p.R3391 0.003 31 0% 26 23.1% 5 0% - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat EHD4 30844 genome.wustl.edu 37 15 42193020 42193020 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_139265.3 -1 validated p.V483 0.929 53 0% 72 33.3% 43 34.8% - - - HMMSmart_EH,superfamily_SSF47473 EHD4 30844 genome.wustl.edu 37 15 42193112 42193112 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_139265.3 -1 validated p.E453K 1.000 58 0% 90 22.2% 46 26% probably_damaging(0.987) tolerated(0.51) neutral(0.446) HMMSmart_EH,superfamily_SSF47473 PLA2G4D 283748 genome.wustl.edu 37 15 42364579 42364579 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178034.3 -1 validated p.Q443H 0.987 109 0% 154 28.6% 0 - benign(0.001) tolerated(0.61) neutral(0.004) HMMPfam_PLA2_B,HMMSmart_SM00022,superfamily_FabD/lysophospholipase-like VPS39 23339 genome.wustl.edu 37 15 42458405 42458405 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015289.2 -1 reviewed p.F544L 1.000 146 0% 230 36.1% 23 34.7% benign(0.067) tolerated(0.33) neutral(0.029) HMMPfam_Vps39_1 VPS39 23339 genome.wustl.edu 37 15 42459701 42459701 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015289.2 -1 reviewed p.S423F 1.000 467 0% 796 35.3% 29 31% possibly_damaging(0.885) deleterious(0.02) deleterious(0.729) NULL TMEM87A 25963 genome.wustl.edu 37 15 42520982 42520982 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015497.3 -1 validated p.K390Q 1.000 187 0% 317 36.3% 28 10.7% probably_damaging(0.974) deleterious(0.01) deleterious(0.822) HMMPfam_Lung_7-TM_R CAPN3 825 genome.wustl.edu 37 15 42652223 42652223 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000070.2 +1 reviewed p.L74I 1.000 81 0% 107 32.7% 0 - benign(0.152) deleterious(0.01) neutral(0.419) HMMPfam_Peptidase_C2,HMMSmart_SM00230,superfamily_Cysteine proteinases CAPN3 825 genome.wustl.edu 37 15 42680042 42680042 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000070.2 +1 reviewed p.R197H 1.000 239 0% 549 32.4% 0 - probably_damaging(0.973) tolerated(0.22) neutral(0.457) HMMPfam_Peptidase_C2,HMMSmart_SM00230,superfamily_Cysteine proteinases ZFP106 64397 genome.wustl.edu 37 15 42714150 42714150 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022473.1 -1 provisional p.D1781Y 1.000 230 0% 288 28.8% 8 25% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 ZFP106 64397 genome.wustl.edu 37 15 42729447 42729447 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022473.1 -1 provisional p.R1554W 0.182 203 0% 347 38% 4 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 ZFP106 64397 genome.wustl.edu 37 15 42742347 42742347 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022473.1 -1 provisional p.S685Y 0.973 155 0% 222 28.8% 2 50% probably_damaging(0.956) deleterious(0) deleterious(0.844) NULL ZFP106 64397 genome.wustl.edu 37 15 42742931 42742931 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022473.1 -1 provisional p.S490 0.000 288 0% 471 35.2% 2 50% - - - NULL STARD9 57519 genome.wustl.edu 37 15 42976811 42976811 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_001129482.3 +1 model p.P964L 0.000 92 0% 136 31.6% 0 - benign(0.006) - - NULL STARD9 57519 genome.wustl.edu 37 15 42979288 42979288 + Missense_Mutation SNP A A T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_001129482.3 +1 model p.N1752Y 0.054 104 0% 142 30.3% 0 - probably_damaging(0.999) - - NULL STARD9 57519 genome.wustl.edu 37 15 42980737 42980737 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_001129482.3 +1 model p.E2235* 0.000 95 0% 190 30.5% 0 - - - - NULL STARD9 57519 genome.wustl.edu 37 15 42983777 42983777 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_001129482.3 +1 model p.S3248Y 1.000 160 0% 276 36.2% 0 - probably_damaging(0.981) - - NULL STARD9 57519 genome.wustl.edu 37 15 42985591 42985591 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_001129482.3 +1 model p.D3853N 0.009 88 0% 144 25% 0 - probably_damaging(0.992) - - NULL STARD9 57519 genome.wustl.edu 37 15 42985803 42985803 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_001129482.3 +1 model p.I3923 0.000 79 0% 127 35.4% 1 100% - - - NULL CDAN1 146059 genome.wustl.edu 37 15 43016775 43016775 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138477.2 -1 reviewed p.L1200I 0.818 121 0% 129 34.9% 20 65% benign(0.029) tolerated(0.12) neutral(0.262) NULL LOC100289126 100289126 genome.wustl.edu 37 15 43023108 43023108 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002343340.1 +1 model p.P32T 0.005 69 0% 85 34.1% 0 - - - - NULL TTBK2 146057 genome.wustl.edu 37 15 43044464 43044464 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173500.3 -1 reviewed p.D994N 1.000 117 0% 204 22.1% 1 0% probably_damaging(0.995) deleterious(0.02) deleterious(0.841) NULL TTBK2 146057 genome.wustl.edu 37 15 43067786 43067786 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173500.3 -1 reviewed p.A515 0.997 101 0% 151 29.1% 2 50% - - - NULL TMEM62 80021 genome.wustl.edu 37 15 43476552 43476552 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024956.3 +1 provisional p.R567I 1.000 212 0% 414 33.8% 12 0% benign(0.005) tolerated(0.2) neutral(0.049) NULL CCNDBP1 23582 genome.wustl.edu 37 15 43483761 43483761 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012142.3 +1 reviewed p.A250T 1.000 116 0% 175 32.6% 39 38.4% probably_damaging(0.989) tolerated(0.23) deleterious(0.481) NULL EPB42 2038 genome.wustl.edu 37 15 43495432 43495432 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000119.2 -1 reviewed p.R584* 0.006 309 0.3% 642 32.7% 0 - - - - HMMPfam_Transglut_C,superfamily_Transglut_C LCMT2 9836 genome.wustl.edu 37 15 43621335 43621335 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014793.3 -1 reviewed p.F451L 0.000 63 0% 119 34.5% 16 62.5% benign(0) tolerated(0.61) neutral(0.004) NULL LCMT2 9836 genome.wustl.edu 37 15 43621476 43621476 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014793.3 -1 reviewed p.Q404H 0.000 111 0% 178 37.1% 19 42.1% benign(0) tolerated(0.31) neutral(0.027) NULL ADAL 161823 genome.wustl.edu 37 15 43643138 43643138 + Splice_Site SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000422466 +1 known e9-1 1.000 276 0% 452 33.8% 0 - - - - - TUBGCP4 27229 genome.wustl.edu 37 15 43672346 43672346 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014444.2 +1 provisional p.R169Q 1.000 149 0% 346 36.1% 3 66.6% possibly_damaging(0.435) tolerated(0.92) neutral(0.142) HMMPfam_Spc97_Spc98 TP53BP1 7158 genome.wustl.edu 37 15 43707863 43707863 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001141980.1 -1 validated p.R1673I 1.000 126 0% 225 33.3% 53 39.6% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_BRCT TP53BP1 7158 genome.wustl.edu 37 15 43708548 43708548 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001141980.1 -1 validated p.R1583I 1.000 192 0% 337 33.2% 63 47.6% probably_damaging(0.988) deleterious(0.01) deleterious(0.843) HMMPfam_53-BP1_Tudor,superfamily_SSF63748 MAP1A 4130 genome.wustl.edu 37 15 43814483 43814483 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002373.5 +1 reviewed p.A271D 1.000 65 0% 147 28.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL MAP1A 4130 genome.wustl.edu 37 15 43814848 43814848 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002373.5 +1 reviewed p.R393* 1.000 102 0% 239 36% 0 - - - - NULL MAP1A 4130 genome.wustl.edu 37 15 43815090 43815090 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002373.5 +1 reviewed p.K473N 1.000 64 0% 143 30.8% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL MAP1A 4130 genome.wustl.edu 37 15 43816974 43816974 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002373.5 +1 reviewed p.E1101D 0.999 47 0% 68 30.9% 0 - benign(0.098) deleterious(0.01) neutral(0.413) NULL MAP1A 4130 genome.wustl.edu 37 15 43819697 43819697 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002373.5 +1 reviewed p.R2009Q 0.030 40 0% 42 40.5% 5 20% possibly_damaging(0.935) tolerated(0.1) deleterious(0.667) NULL STRC 161497 genome.wustl.edu 37 15 43902547 43902547 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153700.2 -1 reviewed p.R1154Q 0.997 455 0% 769 17.8% 0 - possibly_damaging(0.889) tolerated(0.12) deleterious(0.610) NULL STRC 161497 genome.wustl.edu 37 15 43992637 43992637 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000381686 -1 known p.L1633M 0.999 58 0% 97 27.8% 0 - - - - NULL PDIA3 2923 genome.wustl.edu 37 15 44060688 44060688 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005313.4 +1 reviewed p.R344C 1.000 158 0% 275 35.6% 1511 44.5% probably_damaging(0.997) tolerated(0.1) deleterious(0.752) NULL PDIA3 2923 genome.wustl.edu 37 15 44061730 44061730 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005313.4 +1 reviewed p.E384D 1.000 327 0% 625 29.8% 579 36.7% benign(0.007) tolerated(0.1) neutral(0.286) superfamily_Thioredoxin-like,HMMPfam_Thioredoxin MFAP1 4236 genome.wustl.edu 37 15 44106703 44106703 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005926.2 -1 validated p.R205* 1.000 171 0% 330 31.5% 28 3.5% - - - HMMPfam_MFAP1_C WDR76 79968 genome.wustl.edu 37 15 44134637 44134637 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024908.3 +1 validated p.E253* 1.000 98 0% 162 24.1% 1 0% - - - NULL FRMD5 84978 genome.wustl.edu 37 15 44184264 44184264 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032892.3 -1 validated p.V215M 1.000 159 0% 276 33.3% 7 28.5% probably_damaging(0.992) tolerated(0.11) deleterious(0.719) HMMPfam_FERM_C,superfamily_PH domain-like SPG11 80208 genome.wustl.edu 37 15 44876400 44876400 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025137.3 -1 reviewed p.I1826 0.001 173 0% 279 31.2% 4 50% - - - NULL SPG11 80208 genome.wustl.edu 37 15 44890524 44890524 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025137.3 -1 reviewed p.E1314* 1.000 206 0% 286 33.2% 1 0% - - - NULL SPG11 80208 genome.wustl.edu 37 15 44914928 44914928 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025137.3 -1 reviewed p.L772 0.973 114 0% 176 35.8% 0 - - - - NULL SPG11 80208 genome.wustl.edu 37 15 44921487 44921487 + Missense_Mutation SNP T T A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025137.3 -1 reviewed p.N612I 0.986 215 0% 367 29.7% 5 60% probably_damaging(0.967) deleterious(0.04) deleterious(0.758) NULL SPG11 80208 genome.wustl.edu 37 15 44943897 44943897 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025137.3 -1 reviewed p.M416I 0.478 180 0.6% 395 30.4% 10 50% benign(0.007) tolerated(0.18) neutral(0.056) NULL B2M 567 genome.wustl.edu 37 15 45008529 45008529 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004048.2 +1 reviewed p.R117* 0.003 448 0% 602 59.1% 2158 15.8% - - - superfamily_Immunoglobulin TRIM69 140691 genome.wustl.edu 37 15 45047138 45047138 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182985.3 +1 reviewed p.Y16C 0.001 101 0% 187 30.5% 0 - possibly_damaging(0.793) deleterious(0) deleterious(0.742) NULL TRIM69 140691 genome.wustl.edu 37 15 45048627 45048627 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182985.3 +1 reviewed p.R182M 0.001 82 0% 111 31.5% 0 - benign(0.296) tolerated(0.05) neutral(0.437) NULL C15orf43 145645 genome.wustl.edu 37 15 45253745 45253745 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152448.1 +1 predicted p.F104C 1.000 102 0% 172 30.2% 0 - benign(0.163) deleterious(0.02) neutral(0.398) NULL DUOX2 50506 genome.wustl.edu 37 15 45396204 45396204 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014080.4 -1 reviewed p.D870Y 1.000 246 0% 440 21.6% 0 - benign(0.081) deleterious(0) neutral(0.451) HMMSmart_SM00054,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_EF-hand DUOX1 53905 genome.wustl.edu 37 15 45428767 45428767 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017434.3 +1 reviewed p.F322 0.971 167 0% 207 32.4% 0 - - - - HMMPfam_An_peroxidase,superfamily_Heme-dependent peroxidases DUOX1 53905 genome.wustl.edu 37 15 45437251 45437251 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017434.3 +1 reviewed p.E765D 1.000 73 0% 117 36.8% 2 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL SPATA5L1 79029 genome.wustl.edu 37 15 45697549 45697549 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024063.2 +1 validated p.R374I 0.998 113 0% 167 26.3% 6 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases SPATA5L1 79029 genome.wustl.edu 37 15 45702643 45702643 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024063.2 +1 validated p.R450Q 1.000 198 0% 349 28.7% 20 40% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases HMGN2P46 283651 genome.wustl.edu 37 15 45847729 45847729 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000313559 +1 known p.L27I 0.064 73 0% 138 29.7% 0 - - - - NULL SEMA6D 80031 genome.wustl.edu 37 15 48056905 48056905 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153618.1 +1 reviewed p.L390M 0.997 148 0% 132 34.8% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain SEMA6D 80031 genome.wustl.edu 37 15 48063054 48063054 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153618.1 +1 reviewed p.P765L 1.000 76 0% 66 43.9% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL SEMA6D 80031 genome.wustl.edu 37 15 48063545 48063545 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153618.1 +1 reviewed p.L929I 0.263 87 0% 87 20.7% 0 - probably_damaging(0.998) tolerated(0.05) deleterious(0.820) NULL SEMA6D 80031 genome.wustl.edu 37 15 48063939 48063939 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153618.1 +1 reviewed p.P1060H 1.000 22 0% 20 25% 0 - possibly_damaging(0.939) deleterious(0) deleterious(0.829) NULL MYEF2 50804 genome.wustl.edu 37 15 48460932 48460932 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016132.3 -1 validated p.S89L 0.915 460 0% 428 34.1% 6 50% benign(0.103) deleterious(0.04) neutral(0.357) NULL SLC12A1 6557 genome.wustl.edu 37 15 48539535 48539535 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000338.2 +1 reviewed p.A521D 1.000 255 0% 296 26.4% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_AA_permease FBN1 2200 genome.wustl.edu 37 15 48703546 48703546 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000138.4 -1 reviewed p.L2753I 1.000 118 0% 126 36.5% 20 0% probably_damaging(0.998) tolerated(0.11) deleterious(0.746) superfamily_Concanavalin A-like lectins/glucanases FBN1 2200 genome.wustl.edu 37 15 48729257 48729257 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000138.4 -1 reviewed p.E2133* 1.000 213 0% 161 36% 8 12.5% - - - HMMSmart_SM00179,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin FBN1 2200 genome.wustl.edu 37 15 48737634 48737634 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000138.4 -1 reviewed p.G1952 0.952 231 0% 166 33.7% 7 0% - - - PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin FBN1 2200 genome.wustl.edu 37 15 48762861 48762861 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000138.4 -1 reviewed p.E1477K 1.000 170 0% 158 32.9% 3 0% probably_damaging(0.999) tolerated(0.21) deleterious(0.534) HMMSmart_SM00179,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,PatternScan_EGF_2,HMMPfam_EGF_CA,superfamily_EGF/Laminin FBN1 2200 genome.wustl.edu 37 15 48764854 48764854 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000138.4 -1 reviewed p.E1410D 1.000 93 0% 111 27.9% 5 0% possibly_damaging(0.543) tolerated(0.3) neutral(0.212) HMMSmart_SM00179,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin FBN1 2200 genome.wustl.edu 37 15 48766774 48766774 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000138.4 -1 reviewed p.F1346L 1.000 219 0% 233 30.5% 4 0% probably_damaging(0.994) deleterious(0.01) deleterious(0.858) PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin FBN1 2200 genome.wustl.edu 37 15 48777579 48777579 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000138.4 -1 reviewed p.S1235* 1.000 102 0% 107 34.6% 4 0% - - - HMMSmart_SM00179,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,PatternScan_EGF_2,HMMPfam_EGF_CA,superfamily_EGF/Laminin FBN1 2200 genome.wustl.edu 37 15 48786409 48786409 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000138.4 -1 reviewed p.Q907P 0.747 392 0% 372 31.2% 2 0% benign(0.002) tolerated(0.19) neutral(0.050) superfamily_TB module/8-cys domain,superfamily_Concanavalin A-like lectins/glucanases FBN1 2200 genome.wustl.edu 37 15 48791184 48791184 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000138.4 -1 reviewed p.S722N 0.964 199 0% 248 33.5% 3 0% benign(0) tolerated(0.51) neutral(0.009) superfamily_TB module/8-cys domain,superfamily_Concanavalin A-like lectins/glucanases CEP152 22995 genome.wustl.edu 37 15 49037166 49037166 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014985.2 -1 provisional p.E1164* 1.000 251 0% 189 31.2% 0 - - - - NULL CEP152 22995 genome.wustl.edu 37 15 49059550 49059550 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014985.2 -1 provisional p.R710I 0.061 229 0% 274 33.9% 2 100% benign(0.059) tolerated(0.17) neutral(0.063) NULL SECISBP2L 9728 genome.wustl.edu 37 15 49304035 49304035 + Missense_Mutation SNP T T G rs113430830 TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014701.2 -1 provisional p.K541T 1.000 213 0% 314 38.9% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL FGF7 2252 genome.wustl.edu 37 15 49716655 49716655 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002009.3 +1 reviewed p.R54I 1.000 176 0% 217 26.3% 6 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL C15orf33 196951 genome.wustl.edu 37 15 49833942 49833942 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152647.2 -1 validated p.S270L 0.993 82 0% 49 20.4% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL DTWD1 56986 genome.wustl.edu 37 15 49926787 49926787 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001144955.1 +1 validated p.H155N 0.878 54 0% 41 26.8% 13 38.4% benign(0.344) tolerated(0.49) neutral(0.119) HMMPfam_DTW DTWD1 56986 genome.wustl.edu 37 15 49935689 49935689 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001144955.1 +1 validated p.L277I 1.000 65 0% 33 24.2% 22 45.4% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_DTW ATP8B4 79895 genome.wustl.edu 37 15 50189573 50189573 + Missense_Mutation SNP T T A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024837.2 -1 validated p.K871N 0.998 66 0% 56 30.4% 0 - benign(0.341) deleterious(0.01) deleterious(0.513) superfamily_SSF81665 ATP8B4 79895 genome.wustl.edu 37 15 50264973 50264973 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024837.2 -1 validated p.R350H 1.000 123 0% 108 30.6% 0 - probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_E1-E2_ATPase,superfamily_SSF81665 HDC 3067 genome.wustl.edu 37 15 50534755 50534755 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002112.2 -1 validated p.K564R 1.000 92 0% 131 32.1% 0 - benign(0.002) deleterious(0) neutral(0.445) NULL GABPB1 2553 genome.wustl.edu 37 15 50601928 50601928 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005254.5 -1 reviewed p.R23H 1.000 147 0% 284 30.3% 11 54.5% benign(0.025) deleterious(0.03) neutral(0.365) superfamily_Ankyrin repeat USP8 9101 genome.wustl.edu 37 15 50731298 50731298 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001128610.1 +1 validated p.E10* 1.000 114 0% 162 30.2% 0 - - - - HMMPfam_DUF1873 TRPM7 54822 genome.wustl.edu 37 15 50853903 50853903 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017672.4 -1 reviewed p.S1857* 0.998 92 0% 95 29.5% 12 58.3% - - - NULL TRPM7 54822 genome.wustl.edu 37 15 50897263 50897263 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017672.4 -1 reviewed p.I930L 1.000 96 0% 172 33.7% 3 66.6% benign(0.001) tolerated(0.82) neutral(0.001) HMMPfam_Ion_trans AP4E1 23431 genome.wustl.edu 37 15 51276221 51276221 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007347.3 +1 validated p.L657I 1.000 266 0% 267 30.7% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL AP4E1 23431 genome.wustl.edu 37 15 51285597 51285597 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007347.3 +1 validated p.K707N 1.000 140 0% 183 30.1% 1 0% probably_damaging(0.992) deleterious(0.01) deleterious(0.853) NULL AP4E1 23431 genome.wustl.edu 37 15 51285681 51285681 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007347.3 +1 validated p.E735D 0.688 152 0% 232 34.1% 2 50% benign(0) tolerated(0.47) neutral(0.011) NULL AP4E1 23431 genome.wustl.edu 37 15 51291449 51291449 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007347.3 +1 validated p.D1029Y 1.000 205 0% 196 36.7% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Coatamer_beta_C CYP19A1 1588 genome.wustl.edu 37 15 51510779 51510779 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000103.3 -1 reviewed p.F234L 1.000 218 0% 198 31.3% 0 - probably_damaging(0.999) tolerated(0.19) deleterious(0.540) HMMPfam_p450,superfamily_Cytochrome_P450 DMXL2 23312 genome.wustl.edu 37 15 51748267 51748267 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015263.3 -1 validated p.N2819S 1.000 104 0% 89 36% 11 9% probably_damaging(0.959) deleterious(0) deleterious(0.847) HMMSmart_SM00320,superfamily_WD40 repeat-like DMXL2 23312 genome.wustl.edu 37 15 51766643 51766643 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015263.3 -1 validated p.R2370W 1.000 147 0% 158 30.4% 1 0% unknown(0) deleterious(0) - superfamily_WD40 repeat-like DMXL2 23312 genome.wustl.edu 37 15 51790926 51790926 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015263.3 -1 validated p.S1499A 1.000 231 0% 295 37.3% 0 - benign(0.135) tolerated(0.07) neutral(0.331) NULL DMXL2 23312 genome.wustl.edu 37 15 51795105 51795105 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015263.3 -1 validated p.L964I 0.997 180 0% 202 28.2% 2 0% probably_damaging(1) tolerated(0.34) deleterious(0.523) NULL DMXL2 23312 genome.wustl.edu 37 15 51834653 51834653 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015263.3 -1 validated p.L328I 1.000 229 0% 185 41.6% 0 - probably_damaging(0.999) tolerated(0.38) deleterious(0.508) superfamily_WD40 repeat-like DMXL2 23312 genome.wustl.edu 37 15 51856380 51856380 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015263.3 -1 validated p.E148* 1.000 126 0% 153 37.3% 1 0% - - - superfamily_WD40 repeat-like MAPK6 5597 genome.wustl.edu 37 15 52338710 52338710 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002748.3 +1 reviewed p.S18Y 1.000 264 0% 410 32.7% 3 66.6% possibly_damaging(0.76) deleterious(0) deleterious(0.726) superfamily_Kinase_like MAPK6 5597 genome.wustl.edu 37 15 52356958 52356958 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002748.3 +1 reviewed p.E643* 1.000 98 0% 140 25% 47 40.4% - - - NULL BCL2L10 10017 genome.wustl.edu 37 15 52404510 52404510 + Silent SNP G G A rs79743288 TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020396.2 -1 reviewed p.C138 0.012 6 0.000 8 0.625 0 - - - - HMMSmart_SM00337,superfamily_Bcl-2 inhibitors of programmed cell death BCL2L10 10017 genome.wustl.edu 37 15 52404732 52404732 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020396.2 -1 reviewed p.F64L 0.001 16 0% 10 50% 0 - possibly_damaging(0.892) tolerated(0.4) neutral(0.367) HMMPfam_Bcl-2,HMMSmart_SM00337,superfamily_Bcl-2 inhibitors of programmed cell death MYO5C 55930 genome.wustl.edu 37 15 52486108 52486108 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018728.2 -1 validated p.N1740 0.064 153 0% 304 35.9% 13 69.2% - - - NULL MYO5C 55930 genome.wustl.edu 37 15 52538197 52538197 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018728.2 -1 validated p.G674 0.001 110 0% 180 11.7% 5 20% - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO5C 55930 genome.wustl.edu 37 15 52545594 52545594 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018728.2 -1 validated p.D486Y 1.000 279 0% 390 31% 10 40% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO5C 55930 genome.wustl.edu 37 15 52553246 52553246 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018728.2 -1 validated p.R376C 1.000 103 0% 101 37.6% 5 60% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO5C 55930 genome.wustl.edu 37 15 52556428 52556428 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018728.2 -1 validated p.V336M 0.996 151 0% 287 37.3% 8 25% possibly_damaging(0.59) deleterious(0) deleterious(0.648) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases ARPP19 10776 genome.wustl.edu 37 15 52844162 52844162 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006628.4 -1 validated p.P103L 1.000 216 0% 364 33.5% 68 63.2% benign(0.395) deleterious(0.05) deleterious(0.472) NULL FAM214A 56204 genome.wustl.edu 37 15 52885910 52885910 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019600.2 -1 validated p.F891 1.000 56 0% 79 34.2% 23 26% - - - NULL FAM214A 56204 genome.wustl.edu 37 15 52900939 52900939 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019600.2 -1 validated p.E724 1.000 352 0% 520 28.5% 8 62.5% - - - NULL WDR72 256764 genome.wustl.edu 37 15 53901776 53901776 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182758.2 -1 validated p.S962 0.000 170 0% 127 31.5% 1 0% - - - NULL WDR72 256764 genome.wustl.edu 37 15 53905952 53905952 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182758.2 -1 validated p.S928Y 0.979 167 0% 58 34.5% 0 - benign(0.273) deleterious(0.04) neutral(0.378) NULL WDR72 256764 genome.wustl.edu 37 15 53907917 53907917 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182758.2 -1 validated p.S829Y 1.000 104 0% 64 20.3% 0 - probably_damaging(0.991) tolerated(0.1) deleterious(0.730) NULL WDR72 256764 genome.wustl.edu 37 15 53994475 53994475 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182758.2 -1 validated p.S475 0.786 147 0% 244 32% 0 - - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 WDR72 256764 genome.wustl.edu 37 15 54005074 54005074 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182758.2 -1 validated p.V202 1.000 168 0% 180 25.6% 1 0% - - - superfamily_WD40 repeat-like UNC13C 440279 genome.wustl.edu 37 15 54305625 54305625 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080534.1 +1 provisional p.G175 1.000 105 0% 114 22.8% 0 - - - - NULL UNC13C 440279 genome.wustl.edu 37 15 54305648 54305648 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080534.1 +1 provisional p.K183T 1.000 89 0% 110 42.7% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL UNC13C 440279 genome.wustl.edu 37 15 54838954 54838954 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080534.1 +1 provisional p.V1911I 1.000 75 0% 67 25.4% 0 - possibly_damaging(0.729) deleterious(0.04) deleterious(0.615) HMMPfam_Membr_traf_MHD UNC13C 440279 genome.wustl.edu 37 15 54919045 54919045 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080534.1 +1 provisional p.R2127* 0.989 120 0% 83 28.9% 1 0% - - - HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB PIGB 9488 genome.wustl.edu 37 15 55626105 55626105 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004855.4 +1 reviewed p.R232C 1.000 172 0% 323 33.4% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glyco_transf_22 PIGB 9488 genome.wustl.edu 37 15 55647027 55647027 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004855.4 +1 reviewed p.L457I 1.000 172 0% 289 24.2% 11 9% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL DYX1C1 161582 genome.wustl.edu 37 15 55731699 55731699 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_130810.2 -1 reviewed p.K288N 1.000 177 0% 295 34.9% 6 83.3% probably_damaging(0.981) deleterious(0.05) deleterious(0.771) superfamily_TPR-like PYGO1 26108 genome.wustl.edu 37 15 55838847 55838847 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015617.1 -1 provisional p.F212V 0.995 95 0% 128 37.5% 0 - possibly_damaging(0.832) tolerated(0.07) deleterious(0.636) NULL PRTG 283659 genome.wustl.edu 37 15 55965865 55965865 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173814.4 -1 validated p.R519K 1.000 86 0% 117 31.6% 2 0% probably_damaging(0.996) tolerated(0.82) neutral(0.462) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like NEDD4 4734 genome.wustl.edu 37 15 56132662 56132662 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198400.2 -1 validated p.H1019N 1.000 170 0% 289 29.4% 2 0% benign(0.001) tolerated(0.35) neutral(0.021) HMMPfam_HECT,HMMSmart_HECTc,superfamily_HECT RFX7 64864 genome.wustl.edu 37 15 56386803 56386803 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022841.5 -1 validated p.V1041 0.999 261 0% 292 36% 6 33.3% - - - NULL MNS1 55329 genome.wustl.edu 37 15 56756404 56756404 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018365.2 -1 reviewed p.Q15H 1.000 231 0% 240 24.6% 4 25% possibly_damaging(0.822) deleterious(0) deleterious(0.756) NULL ZNF280D 54816 genome.wustl.edu 37 15 56923707 56923707 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017661.2 -1 validated p.E977* 0.989 171 0% 255 34.1% 4 50% - - - NULL ZNF280D 54816 genome.wustl.edu 37 15 56924061 56924061 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017661.2 -1 validated p.N859H 0.699 361 0% 575 34.4% 5 20% possibly_damaging(0.437) deleterious(0.01) deleterious(0.548) NULL ZNF280D 54816 genome.wustl.edu 37 15 56935196 56935196 + Splice_Site SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017661.2 -1 validated e18-1 1.000 103 0% 45 22.2% 1 0% - - - - ZNF280D 54816 genome.wustl.edu 37 15 56961070 56961070 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017661.2 -1 validated p.R499Q 1.000 372 0% 240 25% 3 0% possibly_damaging(0.702) tolerated(0.3) neutral(0.281) NULL CGNL1 84952 genome.wustl.edu 37 15 57730575 57730575 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032866.3 +1 validated p.K126N 0.997 38 0% 34 32.4% 1 0% possibly_damaging(0.44) tolerated(0.06) neutral(0.466) NULL CGNL1 84952 genome.wustl.edu 37 15 57734600 57734600 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032866.3 +1 validated p.R576M 1.000 185 0% 256 30.5% 5 60% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL GCOM1 145781 genome.wustl.edu 37 15 57953689 57953689 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001018090.1 +1 reviewed p.L387F 0.516 165 0% 133 30.8% 0 - benign(0.001) tolerated(0.31) neutral(0.027) NULL POLR2M 81488 genome.wustl.edu 37 15 58001131 58001131 + Silent SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015532.3 +1 reviewed p.L111 0.507 149 0% 215 36.3% 6 50% - - - NULL ALDH1A2 8854 genome.wustl.edu 37 15 58253043 58253043 + Splice_Site SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003888.2 -1 reviewed e12-1 1.000 238 0% 203 33.5% 0 - - - - - ALDH1A2 8854 genome.wustl.edu 37 15 58254351 58254351 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003888.2 -1 reviewed p.K370N 1.000 131 0% 123 26% 9 11.1% possibly_damaging(0.543) deleterious(0) deleterious(0.629) HMMPfam_Aldedh,superfamily_ALDH-like ALDH1A2 8854 genome.wustl.edu 37 15 58287313 58287313 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003888.2 -1 reviewed p.R173K 1.000 114 0% 106 31.1% 7 0% benign(0.001) tolerated(0.1) neutral(0.286) HMMPfam_Aldedh,superfamily_ALDH-like ALDH1A2 8854 genome.wustl.edu 37 15 58302897 58302897 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003888.2 -1 reviewed p.R148Q 1.000 191 0% 189 39.7% 11 0% possibly_damaging(0.867) deleterious(0.03) deleterious(0.701) HMMPfam_Aldedh,superfamily_ALDH-like AQP9 366 genome.wustl.edu 37 15 58430854 58430854 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020980.3 +1 reviewed p.F30L 1.000 196 0% 287 25.4% 0 - benign(0.024) tolerated(0.76) neutral(0.002) HMMPfam_MIP,superfamily_Aquaporin-like LIPC 3990 genome.wustl.edu 37 15 58724279 58724279 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000236.2 +1 reviewed p.I16 0.566 202 0% 263 29.3% 0 - - - - superfamily_alpha/beta-Hydrolases LIPC 3990 genome.wustl.edu 37 15 58840680 58840680 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000236.2 +1 reviewed p.R320 0.992 30 0% 30 40% 0 - - - - HMMPfam_Lipase,superfamily_alpha/beta-Hydrolases HSP90AB4P 664618 genome.wustl.edu 37 15 58984317 58984317 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000380522 -1 known p.F316L 1.000 10 0% 12 41.7% 0 - - - - superfamily_Ribosomal_S5_D2-typ_fold,HMMPfam_HSP90 HSP90AB4P 664618 genome.wustl.edu 37 15 58984494 58984494 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000380522 -1 known p.F277L 1.000 44 0% 82 39% 0 - - - - superfamily_Ribosomal_S5_D2-typ_fold,HMMPfam_HSP90 HSP90AB4P 664618 genome.wustl.edu 37 15 58984707 58984707 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000380522 -1 known p.E206D 1.000 28 0% 93 34.4% 1 0% - - - HMMPfam_HSP90 SLTM 79811 genome.wustl.edu 37 15 59186051 59186051 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024755.2 -1 validated p.S539 0.000 402 0% 571 35.9% 15 33.3% - - - NULL RNF111 54778 genome.wustl.edu 37 15 59344571 59344571 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017610.6 +1 reviewed p.E316D 1.000 166 0% 266 37.2% 2 100% probably_damaging(0.975) deleterious(0) deleterious(0.861) NULL RNF111 54778 genome.wustl.edu 37 15 59376433 59376433 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017610.6 +1 reviewed p.Q801 1.000 111 0% 128 31.2% 7 28.5% - - - NULL CCNB2 9133 genome.wustl.edu 37 15 59409033 59409033 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004701.2 +1 reviewed p.E248* 1.000 187 0% 289 32.9% 23 0% - - - HMMSmart_SM00385,HMMPfam_Cyclin_N,superfamily_Cyclin-like LDHAL6B 92483 genome.wustl.edu 37 15 59499603 59499603 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033195.1 +1 provisional p.R155H 1.000 147 0% 296 30.4% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Ldh_1_N,superfamily_NAD(P)-bd FAM81A 145773 genome.wustl.edu 37 15 59752403 59752403 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152450.2 +1 validated p.E98K 0.995 112 0% 183 28.4% 2 50% possibly_damaging(0.664) deleterious(0.02) deleterious(0.618) NULL FAM81A 145773 genome.wustl.edu 37 15 59799463 59799463 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152450.2 +1 validated p.E155D 1.000 85 0% 142 26.8% 1 0% possibly_damaging(0.942) tolerated(0.21) neutral(0.431) NULL FAM81A 145773 genome.wustl.edu 37 15 59808870 59808870 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152450.2 +1 validated p.K271N 1.000 107 0% 290 32.1% 0 - possibly_damaging(0.844) tolerated(0.39) neutral(0.340) NULL GCNT3 9245 genome.wustl.edu 37 15 59910449 59910449 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004751.2 +1 reviewed p.W4* 0.326 96 0% 138 34.1% 1 0% - - - NULL NARG2 79664 genome.wustl.edu 37 15 60741464 60741464 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024611.4 -1 validated p.L568I 0.000 121 0% 136 40.4% 3 33.3% possibly_damaging(0.462) tolerated(0.35) neutral(0.172) NULL RORA 6095 genome.wustl.edu 37 15 60907121 60907121 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002943.3 -1 reviewed p.F81L 0.003 65 0% 59 22% 0 - benign(0) tolerated(0.66) neutral(0.003) NULL VPS13C 54832 genome.wustl.edu 37 15 62207853 62207853 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020821.1 -1 validated p.K2808N 1.000 48 0% 54 33.3% 6 50% probably_damaging(1) tolerated(0.28) deleterious(0.531) HMMPfam_DUF1162 VPS13C 54832 genome.wustl.edu 37 15 62234179 62234179 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020821.1 -1 validated p.D1746Y 1.000 108 0% 105 41.9% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL VPS13C 54832 genome.wustl.edu 37 15 62254719 62254719 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020821.1 -1 validated p.N1152H 0.993 88 0% 90 37.8% 0 - probably_damaging(0.968) deleterious(0.04) deleterious(0.759) NULL VPS13C 54832 genome.wustl.edu 37 15 62256067 62256067 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020821.1 -1 validated p.E1100K 1.000 231 0.4% 233 29.2% 1 0% possibly_damaging(0.904) tolerated(0.23) neutral(0.400) NULL VPS13C 54832 genome.wustl.edu 37 15 62258291 62258291 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020821.1 -1 validated p.Q1014H 0.997 163 0% 131 28.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL LOC100289289 100289289 genome.wustl.edu 37 15 62538816 62538816 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002343368.1 -1 model p.E1140K 0.007 42 0% 31 41.9% 0 - - - - NULL LOC100289289 100289289 genome.wustl.edu 37 15 62542661 62542661 + Splice_Site SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002343368.1 -1 model e24-1 0.002 26 0% 58 34.5% 0 - - - - - TLN2 83660 genome.wustl.edu 37 15 62939604 62939604 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015059.2 +1 reviewed p.R32Q 1.000 174 0% 375 31.2% 1 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL HERC1 8925 genome.wustl.edu 37 15 63907990 63907990 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003922.3 -1 reviewed p.R4691* 1.000 111 0% 177 37.3% 23 26% - - - HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain HERC1 8925 genome.wustl.edu 37 15 63926057 63926057 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003922.3 -1 reviewed p.S4228Y 1.000 128 0% 187 21.4% 7 28.5% probably_damaging(0.995) - - HMMPfam_RCC1,superfamily_RCC1/BLIP-II HERC1 8925 genome.wustl.edu 37 15 63950792 63950792 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003922.3 -1 reviewed p.L3184I 1.000 101 0% 112 40.2% 4 25% probably_damaging(0.993) - - NULL DAPK2 23604 genome.wustl.edu 37 15 64275759 64275759 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014326.3 -1 reviewed p.R96H 0.998 31 0% 65 16.9% 1 0% possibly_damaging(0.507) tolerated(0.07) deleterious(0.489) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase FAM96A 84191 genome.wustl.edu 37 15 64373324 64373324 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032231.4 -1 validated p.R106* 1.000 161 0% 247 36.4% 27 33.3% - - - HMMPfam_DUF59 CSNK1G1 53944 genome.wustl.edu 37 15 64506264 64506264 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022048.3 -1 validated p.E168D 1.000 318 0% 530 32.6% 8 62.5% possibly_damaging(0.896) tolerated(1) neutral(0.353) HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ANKDD1A 348094 genome.wustl.edu 37 15 65208032 65208032 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182703.3 +1 validated p.R24H 0.047 44 0% 84 40.5% 0 - probably_damaging(0.973) tolerated(0.13) deleterious(0.667) HMMPfam_Ank,superfamily_ANK SPG21 51324 genome.wustl.edu 37 15 65257788 65257788 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001127889.1 -1 reviewed p.S228N 1.000 161 0% 312 33.3% 134 42.5% probably_damaging(0.986) tolerated(0.4) neutral(0.451) superfamily_SSF53474 OSTBETA 123264 genome.wustl.edu 37 15 65345308 65345308 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178859.3 +1 validated p.E65* 0.644 139 0% 281 28.8% 0 - - - - NULL CLPX 10845 genome.wustl.edu 37 15 65447302 65447302 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006660.3 -1 provisional p.R477W 0.997 201 0% 268 32.5% 33 36.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_AAA_2,superfamily_P-loop containing nucleoside triphosphate hydrolases CILP 8483 genome.wustl.edu 37 15 65489834 65489834 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003613.3 -1 reviewed p.N930 0.929 162 0% 206 21.8% 1 0% - - - NULL SLC24A1 9187 genome.wustl.edu 37 15 65917146 65917146 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004727.2 +1 validated p.E243G 0.005 141 0% 222 34.2% 3 33.3% unknown(0) deleterious(0.01) - NULL DENND4A 10260 genome.wustl.edu 37 15 65962413 65962413 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001144823.1 -1 validated p.F1525L 0.998 169 0% 183 38.3% 3 33.3% probably_damaging(0.987) tolerated(0.08) deleterious(0.736) NULL DENND4A 10260 genome.wustl.edu 37 15 65992957 65992957 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001144823.1 -1 validated p.T919A 0.982 178 0% 162 36.4% 0 - benign(0.209) tolerated(0.64) neutral(0.024) NULL DENND4A 10260 genome.wustl.edu 37 15 66025156 66025156 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001144823.1 -1 validated p.K347 1.000 125 0% 195 32.3% 1 100% - - - HMMPfam_DENN,HMMSmart_SM00799 TIPIN 54962 genome.wustl.edu 37 15 66641412 66641412 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017858.2 -1 validated p.F154C 0.998 154 0% 249 34.5% 13 53.8% probably_damaging(1) deleterious(0.05) deleterious(0.845) NULL ZWILCH 55055 genome.wustl.edu 37 15 66812951 66812951 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017975.3 +1 validated p.L182I 0.997 131 0% 161 26.7% 4 75% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF2352 LCTL 197021 genome.wustl.edu 37 15 66844108 66844108 + Silent SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_207338.2 -1 validated p.G472 0.974 191 0% 315 30.5% 0 - - - - HMMPfam_Glyco_hydro_1,superfamily_Glyco_hydro_cat AAGAB 79719 genome.wustl.edu 37 15 67528843 67528843 + Splice_Site SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024666.3 -1 validated e3-1 1.000 144 0% 279 30.1% 0 - - - - - MAP2K5 5607 genome.wustl.edu 37 15 67938601 67938601 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145160.1 +1 reviewed p.Q206 1.000 166 0% 155 25.8% 6 66.6% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase SKOR1 390598 genome.wustl.edu 37 15 68119450 68119450 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001031807.1 +1 provisional p.G384 0.044 4 0.000 12 0.583 0 - - - - NULL PIAS1 8554 genome.wustl.edu 37 15 68379007 68379007 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016166.1 +1 reviewed p.H130N 1.000 228 0% 237 30.8% 5 60% benign(0.238) tolerated(0.28) neutral(0.056) NULL FEM1B 10116 genome.wustl.edu 37 15 68582322 68582322 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015322.3 +1 provisional p.W209L 1.000 84 0% 147 32% 3 66.6% benign(0.026) tolerated(0.49) neutral(0.011) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK FEM1B 10116 genome.wustl.edu 37 15 68582610 68582610 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015322.3 +1 provisional p.R305I 1.000 67 0% 101 30.7% 3 100% probably_damaging(0.99) tolerated(0.06) deleterious(0.764) superfamily_ANK NOX5 79400 genome.wustl.edu 37 15 69329410 69329410 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024505.3 +1 validated p.L393M 0.994 119 0% 176 39.8% 0 - probably_damaging(1) tolerated(0.05) deleterious(0.845) HMMPfam_Ferric_reduct NOX5 79400 genome.wustl.edu 37 15 69340218 69340218 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024505.3 +1 validated p.I604 0.882 120 0% 204 32.4% 0 - - - - HMMPfam_NAD_binding_6,superfamily_SSF52343 ENSG00000245371 0 genome.wustl.edu 37 15 69689601 69689601 + RNA SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000500759 -1 known NULL 0.000 19 0% 33 21.2% 0 - - - - - PAQR5 54852 genome.wustl.edu 37 15 69689852 69689852 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001104554.1 +1 validated p.V186 0.042 281 0% 397 22.9% 5 60% - - - HMMPfam_HlyIII KIF23 9493 genome.wustl.edu 37 15 69737171 69737171 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138555.1 +1 reviewed p.R808* 1.000 64 0% 83 36.1% 14 28.5% - - - NULL TLE3 7090 genome.wustl.edu 37 15 70344749 70344749 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005078.2 -1 validated p.E700K 1.000 38 0% 45 37.8% 94 40.4% possibly_damaging(0.944) deleterious(0) deleterious(0.833) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 UACA 55075 genome.wustl.edu 37 15 70959098 70959098 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018003.2 -1 validated p.E1309* 1.000 190 0% 235 27.2% 41 21.9% - - - NULL UACA 55075 genome.wustl.edu 37 15 70959911 70959911 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018003.2 -1 validated p.F1038V 0.000 243 0% 301 32.2% 11 36.3% benign(0) tolerated(0.5) neutral(0.010) NULL LARP6 55323 genome.wustl.edu 37 15 71124946 71124946 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018357.2 -1 validated p.D307 0.060 258 0% 379 28.8% 34 41.1% - - - NULL LRRC49 54839 genome.wustl.edu 37 15 71341765 71341765 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017691.2 +1 validated p.K625N 1.000 39 0% 41 26.8% 12 33.3% possibly_damaging(0.824) tolerated(0.06) deleterious(0.635) NULL MYO9A 4649 genome.wustl.edu 37 15 72338876 72338876 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006901.2 -1 validated p.R10H 1.000 163 0% 213 31% 1 100% probably_damaging(0.982) deleterious(0.05) deleterious(0.772) NULL SENP8 123228 genome.wustl.edu 37 15 72432336 72432336 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145204.3 +1 reviewed p.S124 1.000 83 0% 154 35.1% 2 100% - - - HMMPfam_Peptidase_C48,superfamily_SSF54001 PKM2 5315 genome.wustl.edu 37 15 72500985 72500985 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002654.3 -1 reviewed p.I271 0.762 192 0% 323 31% 1428 44.3% - - - HMMPfam_PK,superfamily_Phosphoenolpyruvate/pyruvate domain,PatternScan_PYRUVATE_KINASE ARIH1 25820 genome.wustl.edu 37 15 72810461 72810461 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005744.3 +1 validated p.E143 1.000 186 0% 368 40.8% 6 66.6% - - - NULL ARIH1 25820 genome.wustl.edu 37 15 72859455 72859455 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005744.3 +1 validated p.K321 1.000 176 0% 241 31.5% 25 48% - - - HMMSmart_SM00184 GOLGA6B 55889 genome.wustl.edu 37 15 72953838 72953838 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018652.4 +1 reviewed p.D230 0.008 105 0% 169 6.5% 0 - - - - NULL GOLGA6B 55889 genome.wustl.edu 37 15 72954968 72954968 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018652.4 +1 reviewed p.R408M 0.093 310 0% 450 17.8% 0 - probably_damaging(0.981) tolerated(0.06) deleterious(0.748) NULL HCN4 10021 genome.wustl.edu 37 15 73659958 73659958 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005477.2 -1 reviewed p.F218 0.997 30 0% 53 35.8% 0 - - - - HMMPfam_Ion_trans_N C15orf59 388135 genome.wustl.edu 37 15 74043444 74043444 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001039614.1 -1 predicted p.G10R 1.000 56 0% 73 32.9% 1 0% probably_damaging(0.993) deleterious(0.02) deleterious(0.833) NULL STRA6 64220 genome.wustl.edu 37 15 74473263 74473263 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142617.1 -1 reviewed p.R567Q 1.000 98 0% 118 31.4% 12 41.6% benign(0.012) tolerated(0.59) neutral(0.005) NULL CCDC33 80125 genome.wustl.edu 37 15 74560711 74560711 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025055.3 +1 validated p.A153V 0.000 80 0% 96 28.1% 0 - possibly_damaging(0.711) deleterious(0.04) deleterious(0.606) NULL CYP1A1 1543 genome.wustl.edu 37 15 75014717 75014717 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000499.3 -1 reviewed p.R241H 0.974 126 0% 220 35.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_p450,superfamily_Cytochrome P450 CYP1A2 1544 genome.wustl.edu 37 15 75043579 75043579 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000761.3 +1 reviewed p.G294E 0.000 72 0% 137 31.4% 0 - benign(0.323) tolerated(1) neutral(0.101) HMMPfam_p450,superfamily_Cytochrome_P450 CYP1A2 1544 genome.wustl.edu 37 15 75045556 75045556 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000761.3 +1 reviewed p.Y400H 1.000 106 0% 208 33.7% 0 - benign(0.239) tolerated(0.46) neutral(0.036) HMMPfam_p450,superfamily_Cytochrome_P450 LMAN1L 79748 genome.wustl.edu 37 15 75105219 75105219 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021819.2 +1 validated p.G8 0.000 86 0% 107 33.6% 0 - - - - NULL LMAN1L 79748 genome.wustl.edu 37 15 75111579 75111579 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021819.2 +1 validated p.F228L 1.000 215 0% 429 33.3% 0 - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) HMMPfam_Lectin_leg-like,superfamily_Concanavalin A-like lectins/glucanases MPI 4351 genome.wustl.edu 37 15 75188521 75188521 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002435.1 +1 reviewed p.I233 0.068 124 0% 203 33% 13 46.1% - - - HMMPfam_PMI_typeI,superfamily_RmlC-like cupins C15orf39 56905 genome.wustl.edu 37 15 75500764 75500764 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015492.4 +1 validated p.E792G 0.890 30 0% 34 20.6% 29 55.1% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL SIN3A 25942 genome.wustl.edu 37 15 75684730 75684730 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145357.1 -1 reviewed p.L902I 1.000 212 0% 341 31.1% 14 35.7% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL SIN3A 25942 genome.wustl.edu 37 15 75687061 75687061 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145357.1 -1 reviewed p.S746Y 1.000 164 0.6% 359 29.2% 16 12.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SIN3A 25942 genome.wustl.edu 37 15 75687179 75687179 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145357.1 -1 reviewed p.R707* 1.000 151 0% 267 22.1% 12 0% - - - NULL SIN3A 25942 genome.wustl.edu 37 15 75702509 75702509 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145357.1 -1 reviewed p.F376C 1.000 96 0% 167 37.1% 11 63.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PAH,superfamily_PAH CSPG4 1464 genome.wustl.edu 37 15 75982652 75982652 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001897.4 -1 reviewed p.Y252H 1.000 58 0% 76 42.1% 1 0% possibly_damaging(0.873) tolerated(0.18) neutral(0.395) HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 LOC441728 441728 genome.wustl.edu 37 15 76075457 76075457 + RNA SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XR_017329.2 +1 model NULL 0.449 277 0% 366 35.2% 0 - - - - - FBXO22 26263 genome.wustl.edu 37 15 76206460 76206460 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_147188.1 +1 reviewed p.R126I 1.000 147 0% 215 31.6% 38 55.2% probably_damaging(0.962) deleterious(0.01) deleterious(0.810) NULL SCAPER 49855 genome.wustl.edu 37 15 76995328 76995328 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020843.2 -1 validated p.R754* 1.000 77 0% 78 29.5% 10 20% - - - NULL SCAPER 49855 genome.wustl.edu 37 15 77059308 77059308 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020843.2 -1 validated p.E456G 1.000 539 0% 569 30.8% 2 0% probably_damaging(1) tolerated(0.08) deleterious(0.800) NULL SCAPER 49855 genome.wustl.edu 37 15 77064234 77064234 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020843.2 -1 validated p.R365Q 0.000 202 0% 154 29.2% 2 50% benign(0.001) tolerated(0.46) neutral(0.012) NULL SCAPER 49855 genome.wustl.edu 37 15 77064266 77064266 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020843.2 -1 validated p.K354N 0.054 185 0% 139 38.8% 3 0% benign(0.001) deleterious(0.02) neutral(0.383) NULL SGK269 79834 genome.wustl.edu 37 15 77473061 77473061 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024776.2 -1 validated p.S403F 0.001 232 0% 253 34% 0 - possibly_damaging(0.612) deleterious(0.04) deleterious(0.561) NULL HMG20A 10363 genome.wustl.edu 37 15 77771628 77771628 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018200.2 +1 provisional p.R339* 1.000 166 0% 259 35.5% 10 30% - - - NULL SH2D7 646892 genome.wustl.edu 37 15 78395850 78395850 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001101404.1 +1 provisional p.K450T 0.016 84 0% 139 36% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL IDH3A 3419 genome.wustl.edu 37 15 78458574 78458574 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005530.2 +1 reviewed p.R316H 0.999 184 0% 293 34.8% 47 36.1% possibly_damaging(0.661) tolerated(0.08) deleterious(0.533) HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like ACSBG1 23205 genome.wustl.edu 37 15 78486902 78486902 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015162.3 -1 reviewed p.I133 0.989 138 0% 146 38.4% 0 - - - - superfamily_Acetyl-CoA synthetase-like WDR61 80349 genome.wustl.edu 37 15 78582307 78582307 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025234.1 -1 provisional p.L152I 1.000 100 0% 127 26% 61 45.9% possibly_damaging(0.944) deleterious(0.01) deleterious(0.794) HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 IREB2 3658 genome.wustl.edu 37 15 78768609 78768609 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004136.2 +1 validated p.R368Q 1.000 229 0% 385 35.3% 3 33.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Aconitase,superfamily_Aconitase iron-sulfur domain CHRNA3 1136 genome.wustl.edu 37 15 78894312 78894312 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000743.4 -1 reviewed p.C224 0.760 230 0.4% 579 35.4% 3 33.3% - - - HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like CHRNA3 1136 genome.wustl.edu 37 15 78911147 78911147 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000743.4 -1 reviewed p.E65K 1.000 86 0% 107 31.8% 0 - probably_damaging(0.999) tolerated(0.42) deleterious(0.504) HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like CHRNB4 1143 genome.wustl.edu 37 15 78922160 78922160 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000750.3 -1 validated p.D163N 1.000 86 0% 154 35.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL ANKRD34C 390616 genome.wustl.edu 37 15 79586763 79586763 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002343327.1 +1 model p.L379 1.000 86 0% 91 29.7% 0 - - - - NULL ANKRD34C 390616 genome.wustl.edu 37 15 79587179 79587179 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002343327.1 +1 model p.S518Y 1.000 65 0% 79 38% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ZFAND6 54469 genome.wustl.edu 37 15 80429946 80429946 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019006.2 +1 provisional p.V201 0.983 136 0% 194 25.8% 32 65.6% - - - NULL ARNT2 9915 genome.wustl.edu 37 15 80855474 80855474 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014862.3 +1 reviewed p.R404C 1.000 164 0% 249 39.8% 5 40% probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMSmart_SM00086,HMMPfam_PAS_3,superfamily_PYP-like sensor domain (PAS domain) FAM108C1 58489 genome.wustl.edu 37 15 81046585 81046585 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021214.1 +1 validated p.Y288 0.827 110 0% 131 28.2% 33 36.3% - - - superfamily_alpha/beta-Hydrolases KIAA1199 57214 genome.wustl.edu 37 15 81214444 81214444 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018689.1 +1 validated p.K723T 0.000 86 0% 118 36.4% 4 75% benign(0) tolerated(0.54) neutral(0.007) NULL IL16 3603 genome.wustl.edu 37 15 81585333 81585333 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_172217.3 +1 reviewed p.E619D 0.023 41 0% 87 26.4% 0 - benign(0.002) tolerated(0.08) neutral(0.300) NULL IL16 3603 genome.wustl.edu 37 15 81592611 81592611 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_172217.3 +1 reviewed p.E982K 0.957 89 0% 97 27.8% 3 0% probably_damaging(1) deleterious(0.05) deleterious(0.845) NULL STARD5 80765 genome.wustl.edu 37 15 81605606 81605606 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_181900.2 -1 validated p.F211 0.000 129 0% 221 38% 2 0% - - - superfamily_Bet v1-like TMC3 342125 genome.wustl.edu 37 15 81630994 81630994 + Splice_Site SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080532.1 -1 provisional e18+2 1.000 122 0% 172 36% 0 - - - - - TMC3 342125 genome.wustl.edu 37 15 81631106 81631106 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080532.1 -1 provisional p.I657M 0.325 151 0% 176 29% 0 - benign(0.037) tolerated(0.7) neutral(0.004) NULL TMC3 342125 genome.wustl.edu 37 15 81644069 81644069 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080532.1 -1 provisional p.S350L 0.809 129 0% 161 31.1% 1 0% benign(0.183) tolerated(0.14) neutral(0.267) NULL TMC3 342125 genome.wustl.edu 37 15 81651765 81651765 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080532.1 -1 provisional p.L148 0.118 116 0% 152 25% 0 - - - - NULL TMC3 342125 genome.wustl.edu 37 15 81666410 81666410 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080532.1 -1 provisional p.T3 0.730 158 0% 169 27.8% 0 - - - - NULL CPEB1 64506 genome.wustl.edu 37 15 83226509 83226509 + Splice_Site SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030594.3 -1 reviewed e4+1 1.000 243 0% 325 34.2% 0 - - - - - AP3B2 8120 genome.wustl.edu 37 15 83333169 83333169 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004644.3 -1 validated p.S718 0.016 211 0% 347 30% 0 - - - - NULL HOMER2 9455 genome.wustl.edu 37 15 83523509 83523509 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_199330.1 -1 reviewed p.R191W 1.000 46 0% 59 32.2% 72 41.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TM6SF1 53346 genome.wustl.edu 37 15 83781565 83781565 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_023003.3 +1 validated p.G37R 0.970 302 0% 433 30.9% 3 33.3% possibly_damaging(0.514) tolerated(0.54) neutral(0.180) NULL TM6SF1 53346 genome.wustl.edu 37 15 83805386 83805386 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_023003.3 +1 validated p.F359L 1.000 177 0% 197 29.9% 4 0% probably_damaging(0.994) deleterious(0.01) deleterious(0.858) NULL BNC1 646 genome.wustl.edu 37 15 83933379 83933379 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001717.3 -1 reviewed p.I208 0.852 141 0% 198 37.9% 0 - - - - NULL SH3GL3 6457 genome.wustl.edu 37 15 84245382 84245382 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003027.3 +1 validated p.K171N 0.998 101 0% 165 41.2% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_BAR,HMMSmart_SM00721 SH3GL3 6457 genome.wustl.edu 37 15 84245490 84245490 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003027.3 +1 validated p.N207K 1.000 66 0% 123 37.4% 1 100% benign(0.155) tolerated(0.07) neutral(0.333) HMMPfam_BAR,HMMSmart_SM00721 SH3GL3 6457 genome.wustl.edu 37 15 84286874 84286874 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003027.3 +1 validated p.L293 0.999 95 0% 175 33.7% 1 0% - - - HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain ADAMTSL3 57188 genome.wustl.edu 37 15 84611417 84611417 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_207517.2 +1 validated p.Y729 0.995 107 0% 102 31.4% 1 0% - - - HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat ADAMTSL3 57188 genome.wustl.edu 37 15 84700184 84700184 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_207517.2 +1 validated p.R1585I 1.000 60 0% 84 36.9% 1 0% possibly_damaging(0.908) deleterious(0) deleterious(0.806) NULL ADAMTSL3 57188 genome.wustl.edu 37 15 84706509 84706509 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_207517.2 +1 validated p.S1676Y 0.456 189 0% 181 27.6% 0 - possibly_damaging(0.697) tolerated(0.19) neutral(0.299) HMMPfam_PLAC SLC28A1 9154 genome.wustl.edu 37 15 85438202 85438202 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004213.3 +1 validated p.L103 1.000 79 0% 122 32.8% 0 - - - - NULL PDE8A 5151 genome.wustl.edu 37 15 85664054 85664054 + Silent SNP C C T rs149557632 TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002605.2 +1 validated p.V587 0.008 154 0% 155 29.7% 3 100% - - - HMMPfam_PDEase_I,HMMSmart_SM00471,superfamily_HD-domain/PDEase-like AKAP13 11214 genome.wustl.edu 37 15 86253827 86253827 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006738.4 +1 reviewed p.L1854 0.947 224 0% 330 28.2% 9 33.3% - - - NULL AGBL1 123624 genome.wustl.edu 37 15 86686942 86686942 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000441037 +1 known p.R26K 1.000 153 0% 144 33.3% 0 - possibly_damaging(0.791) deleterious(0) deleterious(0.741) superfamily_ARM repeat AGBL1 123624 genome.wustl.edu 37 15 86809687 86809687 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152336.2 +1 validated p.W538R 0.904 303 0% 343 33.2% 0 - benign(0) tolerated(0.49) neutral(0.011) NULL NTRK3 4916 genome.wustl.edu 37 15 88524532 88524532 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001007156.1 -1 reviewed p.L549I 1.000 245 0% 297 32% 0 - benign(0.35) deleterious(0) deleterious(0.555) NULL ACAN 176 genome.wustl.edu 37 15 89400117 89400117 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013227.3 +1 reviewed p.S1319Y 0.995 154 0% 149 30.9% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL ACAN 176 genome.wustl.edu 37 15 89400429 89400429 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013227.3 +1 reviewed p.S1423Y 0.284 99 0% 132 41.7% 0 - probably_damaging(0.993) deleterious(0.02) deleterious(0.833) NULL ACAN 176 genome.wustl.edu 37 15 89400953 89400953 + Missense_Mutation SNP A A T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013227.3 +1 reviewed p.T1598S 0.367 77 0% 155 34.8% 0 - possibly_damaging(0.748) tolerated(0.45) neutral(0.287) NULL ACAN 176 genome.wustl.edu 37 15 89401133 89401133 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013227.3 +1 reviewed p.L1658I 0.000 54 0% 63 31.7% 0 - possibly_damaging(0.808) tolerated(0.59) neutral(0.308) NULL ACAN 176 genome.wustl.edu 37 15 89402266 89402266 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013227.3 +1 reviewed p.S2035 0.000 63 0% 92 45.7% 1 0% - - - NULL HAPLN3 145864 genome.wustl.edu 37 15 89422304 89422304 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178232.2 -1 reviewed p.R230 0.501 18 0% 14 42.9% 63 44.4% - - - HMMPfam_Xlink,HMMSmart_SM00445,PatternScan_LINK_1,superfamily_C-type lectin-like HAPLN3 145864 genome.wustl.edu 37 15 89422305 89422305 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178232.2 -1 reviewed p.R230Q 1.000 18 0% 15 40% 63 47.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Xlink,HMMSmart_SM00445,PatternScan_LINK_1,superfamily_C-type lectin-like MFGE8 4240 genome.wustl.edu 37 15 89449889 89449889 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005928.2 -1 validated p.D170N 0.620 69 0% 111 36% 449 42% benign(0.039) tolerated(0.38) neutral(0.020) HMMPfam_F5_F8_type_C,HMMSmart_SM00231,superfamily_Galactose-binding domain-like ABHD2 11057 genome.wustl.edu 37 15 89719185 89719185 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007011.7 +1 reviewed p.V227 0.983 88 0% 144 31.9% 20 35% - - - HMMPfam_Abhydrolase_1,superfamily_SSF53474 FANCI 55215 genome.wustl.edu 37 15 89828350 89828350 + Missense_Mutation SNP T T A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001113378.1 +1 reviewed p.H574Q 0.994 192 0% 314 29.6% 17 29.4% benign(0.001) tolerated(0.68) neutral(0.002) NULL FANCI 55215 genome.wustl.edu 37 15 89836061 89836061 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001113378.1 +1 reviewed p.R712I 1.000 259 0% 321 34.6% 7 28.5% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL FANCI 55215 genome.wustl.edu 37 15 89838242 89838242 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001113378.1 +1 reviewed p.Q851 1.000 150 0% 249 34.1% 24 41.6% - - - NULL POLG 5428 genome.wustl.edu 37 15 89876725 89876725 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001126131.1 -1 reviewed p.I87 1.000 24 0% 44 27.3% 7 14.2% - - - NULL RHCG 51458 genome.wustl.edu 37 15 90020021 90020021 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016321.1 -1 provisional p.D426Y 0.998 129 0% 195 28.7% 15 40% possibly_damaging(0.7) deleterious(0) deleterious(0.696) HMMPfam_Ammonium_transp C15orf42 90381 genome.wustl.edu 37 15 90143870 90143870 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152259.3 +1 validated p.R703* 0.988 64 0% 85 23.5% 3 0% - - - NULL C15orf42 90381 genome.wustl.edu 37 15 90159718 90159718 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152259.3 +1 validated p.I984 1.000 82 0% 122 34.4% 4 50% - - - NULL C15orf42 90381 genome.wustl.edu 37 15 90164674 90164674 + Missense_Mutation SNP C C A rs56673030 TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152259.3 +1 validated p.L1069I 0.999 132 0% 260 26.9% 1 0% probably_damaging(0.99) tolerated(0.11) deleterious(0.713) NULL C15orf42 90381 genome.wustl.edu 37 15 90168261 90168261 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152259.3 +1 validated p.R1574* 0.870 41 0% 72 34.7% 7 14.2% - - - NULL WDR93 56964 genome.wustl.edu 37 15 90270521 90270521 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020212.1 +1 provisional p.K338N 0.833 61 0% 73 31.5% 0 - benign(0.147) tolerated(0.35) neutral(0.034) NULL ANPEP 290 genome.wustl.edu 37 15 90335727 90335727 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001150.2 -1 reviewed p.V772 0.018 133 0% 271 36.9% 14 0% - - - NULL C15orf38 348110 genome.wustl.edu 37 15 90446506 90446506 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182616.2 -1 validated p.S205L 0.675 279 0% 571 33.1% 9 44.4% benign(0.173) deleterious(0.01) neutral(0.422) HMMPfam_UPF0552 ZNF774 342132 genome.wustl.edu 37 15 90897943 90897943 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004309.2 +1 validated p.E17D 0.975 129 0% 332 32.5% 2 0% benign(0.098) deleterious(0) neutral(0.452) NULL FES 2242 genome.wustl.edu 37 15 91435992 91435992 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002005.3 +1 reviewed p.A588V 1.000 88 0% 89 28.1% 12 8.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP FES 2242 genome.wustl.edu 37 15 91437276 91437276 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002005.3 +1 reviewed p.F772L 0.960 41 0% 77 24.7% 19 10.5% benign(0.007) tolerated(0.25) neutral(0.037) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) VPS33B 26276 genome.wustl.edu 37 15 91548976 91548976 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018668.3 -1 reviewed p.F326L 0.941 37 0% 60 25% 13 46.1% possibly_damaging(0.912) deleterious(0) deleterious(0.808) HMMPfam_Sec1,superfamily_Sec1/munc18-like (SM) proteins SV2B 9899 genome.wustl.edu 37 15 91811734 91811734 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014848.4 +1 validated p.K424N 1.000 204 0% 357 31.7% 0 - benign(0.119) tolerated(0.29) neutral(0.038) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter SLCO3A1 28232 genome.wustl.edu 37 15 92397231 92397231 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013272.3 +1 validated p.K31N 1.000 16 0% 12 41.7% 1 0% possibly_damaging(0.564) deleterious(0.04) deleterious(0.541) superfamily_MFS general substrate transporter SLCO3A1 28232 genome.wustl.edu 37 15 92671694 92671694 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013272.3 +1 validated p.A496V 1.000 164 0% 260 25% 6 16.6% unknown(0) - - HMMPfam_OATP,HMMPfam_Kazal_2,superfamily_MFS general substrate transporter,superfamily_Kazal-type serine protease inhibitors C15orf32 145858 genome.wustl.edu 37 15 93015693 93015693 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153040.2 +1 predicted p.S105 0.000 94 0% 138 35.5% 0 - - - - NULL CHD2 1106 genome.wustl.edu 37 15 93486285 93486285 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001271.3 +1 reviewed p.E347K 1.000 65 0% 163 33.1% 10 40% possibly_damaging(0.865) deleterious(0.01) deleterious(0.741) superfamily_P-loop containing nucleoside triphosphate hydrolases CHD2 1106 genome.wustl.edu 37 15 93567633 93567633 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001271.3 +1 reviewed p.D1729N 1.000 75 0% 98 24.5% 30 46.6% benign(0.026) tolerated(0.09) neutral(0.297) NULL MCTP2 55784 genome.wustl.edu 37 15 94910998 94910998 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018349.3 +1 validated p.R489I 0.994 64 0% 47 46.8% 0 - benign(0.123) tolerated(0.13) neutral(0.263) NULL MCTP2 55784 genome.wustl.edu 37 15 94913375 94913375 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018349.3 +1 validated p.L516 0.978 221 0% 198 31.8% 0 - - - - HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) IGF1R 3480 genome.wustl.edu 37 15 99434709 99434709 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000875.3 +1 reviewed p.P266S 1.000 68 0% 75 36% 6 50% benign(0.002) tolerated(0.18) neutral(0.056) HMMPfam_Furin-like,HMMSmart_FU,superfamily_Grow_fac_recept IGF1R 3480 genome.wustl.edu 37 15 99460097 99460097 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000875.3 +1 reviewed p.F731L 0.414 99 0% 135 31.1% 10 40% benign(0.355) deleterious(0.03) deleterious(0.477) HMMSmart_FN3,superfamily_FN_III-like PGPEP1L 145814 genome.wustl.edu 37 15 99511748 99511748 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001102612.2 -1 validated p.E184K 0.074 108 0% 197 30.5% 0 - benign(0.016) tolerated(0.31) neutral(0.028) superfamily_Pyrrolidone carboxyl peptidase (pyroglutamate aminopeptidase) SYNM 23336 genome.wustl.edu 37 15 99666963 99666963 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000336292 +1 known p.V323 0.000 217 0% 354 33.1% 0 - - - - NULL SYNM 23336 genome.wustl.edu 37 15 99671981 99671981 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000336292 +1 known p.R1138Q 0.005 31 0% 33 36.4% 1 100% benign(0.008) tolerated(1) - NULL LRRC28 123355 genome.wustl.edu 37 15 99796186 99796186 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144598.2 +1 provisional p.T8 0.997 153 0% 126 38.9% 8 50% - - - superfamily_L domain-like HSP90B2P 7190 genome.wustl.edu 37 15 99800094 99800094 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000378906 +1 known p.E357* 1.000 138 0% 266 38% 0 - - - - HMMPfam_HSP90 ADAMTS17 170691 genome.wustl.edu 37 15 100672302 100672302 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_139057.2 -1 reviewed p.G544E 1.000 62 0% 56 28.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_TSP-1 type 1 repeat LRRK1 79705 genome.wustl.edu 37 15 101550769 101550769 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024652.3 +1 validated p.F368 0.930 169 0% 258 31.4% 0 - - - - superfamily_L domain-like LRRK1 79705 genome.wustl.edu 37 15 101550984 101550984 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024652.3 +1 validated p.S408Y 0.000 169 0% 161 44.1% 1 0% benign(0.225) tolerated(0.44) neutral(0.035) HMMSmart_SM00369,HMMSmart_SM00364,superfamily_L domain-like LRRK1 79705 genome.wustl.edu 37 15 101565169 101565169 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024652.3 +1 validated p.I743 0.875 49 0% 41 51.2% 2 0% - - - HMMPfam_Miro,superfamily_P-loop containing nucleoside triphosphate hydrolases LRRK1 79705 genome.wustl.edu 37 15 101567474 101567474 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024652.3 +1 validated p.S805F 1.000 37 0% 63 44.4% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases PCSK6 5046 genome.wustl.edu 37 15 101922356 101922356 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138320.1 -1 reviewed p.E491* 0.992 102 0% 168 32.7% 0 - benign(0.424) deleterious(0.04) deleterious(0.486) NULL PCSK6 5046 genome.wustl.edu 37 15 101933521 101933521 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000331826 -1 known p.V368I 0.925 137 0% 170 29.4% 2 0% benign(0.033) tolerated(1) neutral(0.002) HMMPfam_Peptidase_S8,superfamily_Subtilisin-like PCSK6 5046 genome.wustl.edu 37 15 101938627 101938627 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138320.1 -1 reviewed p.R326* 0.986 114 0.9% 118 34.7% 0 - - - - NULL TARSL2 123283 genome.wustl.edu 37 15 102197211 102197211 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152334.2 -1 validated p.F725S 1.000 236 0% 304 23.7% 7 14.2% possibly_damaging(0.909) deleterious(0) deleterious(0.806) HMMPfam_HGTP_anticodon,superfamily_Anticodon-binding domain of Class II aaRS OR4F6 390648 genome.wustl.edu 37 15 102346376 102346376 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005326.1 +1 provisional p.G152C 0.021 255 0% 377 33.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR4F6 390648 genome.wustl.edu 37 15 102346449 102346449 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005326.1 +1 provisional p.S176N 0.167 314 0% 367 29.7% 0 - possibly_damaging(0.584) tolerated(0.26) neutral(0.235) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like MPG 4350 genome.wustl.edu 37 16 129691 129691 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002434.2 +1 validated p.L103 1.000 52 0% 93 25.8% 95 34.7% - - - HMMPfam_Pur_DNA_glyco,superfamily_FMT C-terminal domain-like LUC7L 55692 genome.wustl.edu 37 16 256022 256022 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_201412.1 -1 validated p.A164V 0.646 236 0% 535 32.5% 48 37.5% benign(0.002) tolerated(0.19) neutral(0.050) HMMPfam_LUC7 LOC100129478 100129478 genome.wustl.edu 37 16 281201 281201 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_001719774.2 +1 model p.D23 0.001 31 3.2% 66 36.4% 0 - - - - NULL PDIA2 64714 genome.wustl.edu 37 16 334590 334590 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006849.2 +1 validated p.T135A 0.210 42 0% 88 38.6% 0 - benign(0) tolerated(0.27) neutral(0.034) superfamily_Thiordxn-like_fd,HMMPfam_Thioredoxin AXIN1 8312 genome.wustl.edu 37 16 396589 396589 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003502.2 -1 reviewed p.R146Q 0.996 116 0% 185 35.1% 17 41.1% possibly_damaging(0.756) deleterious(0.02) deleterious(0.662) HMMPfam_RGS,HMMSmart_SM00315,superfamily_Regulator of G-protein signaling RGS RAB11FIP3 9727 genome.wustl.edu 37 16 560667 560667 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014700.3 +1 validated p.A503T 1.000 61 0% 89 31.5% 13 38.4% probably_damaging(1) tolerated(1) deleterious(0.500) NULL RAB11FIP3 9727 genome.wustl.edu 37 16 570824 570824 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014700.3 +1 validated p.I752 1.000 76 0% 174 37.9% 33 30.3% - - - HMMPfam_RBD-FIP NARFL 64428 genome.wustl.edu 37 16 789675 789675 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022493.1 -1 provisional p.E44* 0.992 218 0% 374 34.5% 15 40% - - - NULL MSLNL 401827 genome.wustl.edu 37 16 822800 822800 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001025190.1 -1 provisional p.Q769H 0.956 34 0% 74 33.8% 0 - probably_damaging(0.965) tolerated(0.11) deleterious(0.678) HMMPfam_Mesothelin CHTF18 63922 genome.wustl.edu 37 16 843220 843220 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022092.2 +1 validated p.R583H 1.000 32 0% 32 31.2% 33 39.3% benign(0.083) tolerated(0.77) neutral(0.007) superfamily_P-loop containing nucleoside triphosphate hydrolases CACNA1H 8912 genome.wustl.edu 37 16 1248712 1248712 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021098.2 +1 reviewed p.V247 0.930 143 0% 129 26.4% 2 0% - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CACNA1H 8912 genome.wustl.edu 37 16 1250534 1250534 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021098.2 +1 reviewed p.F361S 1.000 46 0% 80 33.8% 0 - probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CACNA1H 8912 genome.wustl.edu 37 16 1250547 1250547 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021098.2 +1 reviewed p.G365 1.000 47 0% 87 36.8% 1 0% - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CACNA1H 8912 genome.wustl.edu 37 16 1255242 1255242 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021098.2 +1 reviewed p.F860 0.899 51 0% 71 25.4% 5 0% - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CRAMP1L 57585 genome.wustl.edu 37 16 1705240 1705240 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020825.3 +1 validated p.R353Q 0.998 112 0% 199 33.7% 1 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL CRAMP1L 57585 genome.wustl.edu 37 16 1705265 1705265 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020825.3 +1 validated p.F361L 0.998 115 0% 232 34.5% 2 50% possibly_damaging(0.952) tolerated(0.07) deleterious(0.715) NULL CRAMP1L 57585 genome.wustl.edu 37 16 1712618 1712618 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020825.3 +1 validated p.F847L 1.000 108 0% 152 28.3% 6 33.3% benign(0.249) deleterious(0.01) neutral(0.431) NULL MAPK8IP3 23162 genome.wustl.edu 37 16 1812897 1812897 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015133.3 +1 reviewed p.S595 0.022 73 0% 94 36.2% 10 50% - - - NULL HAGH 3029 genome.wustl.edu 37 16 1869159 1869159 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005326.4 -1 reviewed p.F166 0.970 30 0% 45 44.4% 60 6.6% - - - HMMPfam_Lactamase_B,superfamily_Metallo-hydrolase/oxidoreductase NDUFB10 4716 genome.wustl.edu 37 16 2009724 2009724 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004548.2 +1 validated p.L33 0.906 22 0% 45 24.4% 193 39.8% - - - NULL RNF151 146310 genome.wustl.edu 37 16 2017301 2017301 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_174903.4 +1 provisional p.F10 1.000 47 0% 54 33.3% 0 - - - - superfamily_SSF57850 ZNF598 90850 genome.wustl.edu 37 16 2049783 2049783 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000431526 -1 known p.K589N 1.000 16 0% 12 58.3% 41 58.5% probably_damaging(0.996) deleterious(0.02) deleterious(0.845) NULL TSC2 7249 genome.wustl.edu 37 16 2108831 2108831 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000548.3 +1 reviewed p.S311F 0.878 115 0% 204 16.2% 15 13.3% benign(0.173) tolerated(0.13) neutral(0.269) superfamily_ARM repeat PKD1 5310 genome.wustl.edu 37 16 2158464 2158464 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001009944.2 -1 reviewed p.S2235* 1.000 12 0% 14 28.6% 3 0% - - - HMMPfam_REJ ABCA3 21 genome.wustl.edu 37 16 2338190 2338190 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001089.2 -1 reviewed p.S947 0.997 50 0% 77 35.1% 2 50% - - - NULL ABCA3 21 genome.wustl.edu 37 16 2347837 2347837 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001089.2 -1 reviewed p.R661Q 0.000 40 0% 60 36.7% 0 - possibly_damaging(0.776) tolerated(0.13) deleterious(0.542) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCA3 21 genome.wustl.edu 37 16 2354117 2354117 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001089.2 -1 reviewed p.P440 0.000 44 0% 106 33% 2 100% - - - NULL CCNF 899 genome.wustl.edu 37 16 2495622 2495622 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001761.2 +1 reviewed p.R365W 1.000 27 0% 34 29.4% 12 58.3% possibly_damaging(0.939) deleterious(0.03) deleterious(0.749) HMMSmart_CYCLIN,HMMPfam_Cyclin_N,superfamily_Cyclin_like TBC1D24 57465 genome.wustl.edu 37 16 2546824 2546824 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020705.1 +1 provisional p.F225 0.073 61 0% 80 38.8% 1 100% - - - HMMPfam_TBC,HMMSmart_TBC,superfamily_RabGAP_TBC SRRM2 23524 genome.wustl.edu 37 16 2809575 2809575 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016333.3 +1 validated p.R249Q 1.000 66 0% 78 29.5% 22 31.8% unknown(0) - - NULL SRRM2 23524 genome.wustl.edu 37 16 2814313 2814313 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016333.3 +1 validated p.E1262* 1.000 53 0% 67 31.3% 27 14.8% - - - NULL SRRM2 23524 genome.wustl.edu 37 16 2815472 2815472 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016333.3 +1 validated p.S1648Y 0.992 53 0% 123 33.3% 69 23.1% unknown(0) - - NULL SRRM2 23524 genome.wustl.edu 37 16 2815820 2815820 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016333.3 +1 validated p.S1764L 1.000 68 0% 78 34.6% 79 34.1% unknown(0) - - NULL SRRM2 23524 genome.wustl.edu 37 16 2816501 2816501 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016333.3 +1 validated p.R1991Q 0.404 49 0% 109 33.9% 103 60.1% unknown(0) - - NULL SRRM2 23524 genome.wustl.edu 37 16 2816824 2816824 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016333.3 +1 validated p.H2099N 1.000 54 0% 102 31.4% 108 21.2% probably_damaging(0.971) - - NULL PRSS41 360226 genome.wustl.edu 37 16 2854436 2854436 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001135086.1 +1 provisional p.I209 0.088 144 0% 265 34.7% 0 - - - - HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys PRSS22 64063 genome.wustl.edu 37 16 2906160 2906160 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022119.3 -1 reviewed p.Q68H 0.962 77 0% 72 33.3% 20 25% possibly_damaging(0.684) tolerated(0.19) neutral(0.293) HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys ZSCAN10 84891 genome.wustl.edu 37 16 3140388 3140388 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032805.1 -1 provisional p.C294 0.972 16 0% 26 61.5% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 OR1F1 4992 genome.wustl.edu 37 16 3254840 3254840 + Silent SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012360.1 +1 provisional p.I198 0.000 119 0% 339 35.7% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 MEFV 4210 genome.wustl.edu 37 16 3293560 3293560 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000243.2 -1 reviewed p.L643M 1.000 89 0% 138 40.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00589 MEFV 4210 genome.wustl.edu 37 16 3304252 3304252 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000243.2 -1 reviewed p.D272 0.000 105 0% 168 34.5% 0 - - - - NULL ZNF263 10127 genome.wustl.edu 37 16 3340035 3340035 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005741.4 +1 validated p.R510I 1.000 102 0% 181 34.3% 20 65% probably_damaging(0.996) tolerated(0.05) deleterious(0.807) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF75A 7627 genome.wustl.edu 37 16 3367520 3367520 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153028.2 +1 validated p.R181I 1.000 110 0.9% 243 30.5% 5 20% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF597 146434 genome.wustl.edu 37 16 3486465 3486465 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152457.1 -1 provisional p.L412I 0.810 112 0% 178 38.8% 1 0% probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF597 146434 genome.wustl.edu 37 16 3486862 3486862 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152457.1 -1 provisional p.E279D 0.008 55 0% 97 24.7% 3 0% possibly_damaging(0.632) deleterious(0.03) deleterious(0.586) NULL C16orf90 646174 genome.wustl.edu 37 16 3543933 3543933 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080524.1 -1 predicted p.S152Y 0.458 71 0% 110 32.7% 0 - possibly_damaging(0.805) tolerated(0.09) deleterious(0.599) NULL SLX4 84464 genome.wustl.edu 37 16 3642849 3642849 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032444.2 -1 provisional p.F726L 0.941 30 0% 63 33.3% 4 50% benign(0.296) deleterious(0.02) deleterious(0.475) HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB DNASE1 1773 genome.wustl.edu 37 16 3706656 3706656 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005223.3 +1 reviewed p.A113V 0.071 41 0% 65 23.1% 9 55.5% benign(0) tolerated(1) - HMMPfam_Exo_endo_phos,superfamily_DNase I-like,HMMSmart_SM00476 ADCY9 115 genome.wustl.edu 37 16 4015871 4015871 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001116.2 -1 reviewed p.R1323* 0.352 247 0% 443 31.4% 0 - - - - NULL SRL 6345 genome.wustl.edu 37 16 4245759 4245759 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001098814.1 -1 validated p.T135 0.553 94 0% 209 34.4% 0 - - - - superfamily_SSF52540 CORO7 79585 genome.wustl.edu 37 16 4411019 4411019 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024535.3 -1 validated p.S614 1.000 76 0% 158 41.8% 36 41.6% - - - HMMSmart_WD40,superfamily_WD40_like,PatternScan_WD_REPEATS_1,HMMPfam_WD40 CORO7 79585 genome.wustl.edu 37 16 4412714 4412714 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024535.3 -1 validated p.S434L 0.712 40 0% 68 33.8% 23 13% probably_damaging(0.998) tolerated(0.19) deleterious(0.524) NULL LOC342346 342346 genome.wustl.edu 37 16 4624743 4624743 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145011.1 +1 predicted p.D187Y 0.024 65 0% 128 39.8% 0 - unknown(0) deleterious(0) - NULL LOC342346 342346 genome.wustl.edu 37 16 4625834 4625834 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145011.1 +1 predicted p.L451 0.000 45 0% 107 35.5% 0 - - - - NULL C16orf71 146562 genome.wustl.edu 37 16 4797544 4797544 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_139170.2 +1 validated p.R494I 0.005 17 0.000 8 0.500 0 - benign(0.303) tolerated(0.12) neutral(0.355) NULL SEPT12 124404 genome.wustl.edu 37 16 4827986 4827986 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144605.3 -1 validated p.D297Y 1.000 118 0% 199 30.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Septin GLYR1 84656 genome.wustl.edu 37 16 4855273 4855273 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032569.3 -1 validated p.N542 0.921 109 0% 183 35% 53 33.9% - - - superfamily_6-phosphogluconate dehydrogenase C-terminal domain-like UBN1 29855 genome.wustl.edu 37 16 4909145 4909145 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001079514.1 +1 validated p.K184N 1.000 108 0% 204 36.8% 9 11.1% probably_damaging(0.998) tolerated(0.09) deleterious(0.771) NULL PPL 5493 genome.wustl.edu 37 16 4934126 4934126 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002705.4 -1 reviewed p.G1510 0.003 45 0% 68 32.4% 29 62% - - - NULL PPL 5493 genome.wustl.edu 37 16 4940896 4940896 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002705.4 -1 reviewed p.Q665H 0.999 20 0% 31 29% 14 21.4% benign(0) tolerated(0.17) neutral(0.059) superfamily_Spectrin repeat C16orf89 146556 genome.wustl.edu 37 16 5108551 5108551 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152459.3 -1 validated p.P228 0.025 69 0% 101 35.6% 0 - - - - NULL C16orf89 146556 genome.wustl.edu 37 16 5112433 5112433 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152459.3 -1 validated p.Y155 1.000 56 0% 56 37.5% 0 - - - - NULL RBFOX1 54715 genome.wustl.edu 37 16 7657293 7657293 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145891.2 +1 reviewed p.K230T 1.000 478 0.2% 526 35% 0 - benign(0.006) deleterious(0.01) neutral(0.406) NULL RBFOX1 54715 genome.wustl.edu 37 16 7721591 7721591 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145891.2 +1 reviewed p.K328T 1.000 289 0% 349 32.4% 0 - benign(0.006) tolerated(0.06) neutral(0.323) NULL USP7 7874 genome.wustl.edu 37 16 8994476 8994476 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003470.2 -1 validated p.P740 1.000 125 0% 227 39.6% 67 52.2% - - - NULL GRIN2A 2903 genome.wustl.edu 37 16 9858181 9858181 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000833.3 -1 reviewed p.P1074S 0.203 94 0% 113 27.4% 0 - benign(0.032) tolerated(0.67) neutral(0.004) HMMPfam_NMDAR2_C GRIN2A 2903 genome.wustl.edu 37 16 10274141 10274141 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000833.3 -1 reviewed p.S43N 0.999 17 0% 28 57.1% 0 - benign(0.002) deleterious(0.01) neutral(0.406) superfamily_Periplasmic binding protein-like I ATF7IP2 80063 genome.wustl.edu 37 16 10551296 10551296 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024997.2 +1 validated p.S421Y 0.462 132 0% 203 30% 0 - possibly_damaging(0.813) deleterious(0.02) deleterious(0.690) NULL EMP2 2013 genome.wustl.edu 37 16 10637458 10637458 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001424.4 -1 validated p.T46 0.006 204 0% 433 32.6% 60 50% - - - HMMPfam_PMP22_Claudin NUBP1 4682 genome.wustl.edu 37 16 10862939 10862939 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002484.2 +1 validated p.E314* 0.019 107 0% 200 28.5% 23 30.4% - - - NULL NUBP1 4682 genome.wustl.edu 37 16 10862944 10862944 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002484.2 +1 validated p.E315D 0.056 107 0% 196 31.1% 24 41.6% benign(0) tolerated(0.4) neutral(0.016) NULL CLEC16A 23274 genome.wustl.edu 37 16 11097005 11097005 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015226.2 +1 validated p.K382 0.999 89 0% 164 36.6% 3 66.6% - - - NULL SNN 8303 genome.wustl.edu 37 16 11769982 11769982 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003498.5 +1 validated p.A23T 1.000 46 0% 81 29.6% 7 42.8% possibly_damaging(0.643) deleterious(0) deleterious(0.670) HMMPfam_SNN_transmemb GSPT1 2935 genome.wustl.edu 37 16 11980450 11980450 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002094.3 -1 validated p.E377 1.000 142 0% 250 26.8% 61 50.8% - - - HMMPfam_GTP_EFTU,superfamily_P-loop containing nucleoside triphosphate hydrolases SHISA9 729993 genome.wustl.edu 37 16 13010572 13010572 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145204.2 +1 validated p.Q238H 1.000 74 0% 125 40.8% 0 - probably_damaging(0.992) deleterious(0.02) deleterious(0.831) NULL ERCC4 2072 genome.wustl.edu 37 16 14041527 14041527 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005236.2 +1 reviewed p.R692* 1.000 128 0% 172 32% 2 100% - - - HMMPfam_ERCC4,superfamily_Restrict_endonuc_II-like_core NOMO1 23420 genome.wustl.edu 37 16 14947806 14947806 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014287.3 +1 reviewed p.R296* 0.999 484 0% 846 28.5% 29 0% - - - superfamily_Carboxypeptidase regulatory domain NOMO1 23420 genome.wustl.edu 37 16 14972641 14972641 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014287.3 +1 reviewed p.R903C 1.000 650 0% 1080 20.5% 117 0.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cna_B,superfamily_Starch-binding domain-like PDXDC1 23042 genome.wustl.edu 37 16 15100250 15100250 + Splice_Site SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015027.2 +1 validated e6-1 1.000 206 0% 456 13.2% 0 - - - - - KIAA0430 9665 genome.wustl.edu 37 16 15706615 15706615 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014647.3 -1 validated p.S1091 0.998 72 0% 192 28.6% 3 0% unknown(0) deleterious(0.02) - NULL KIAA0430 9665 genome.wustl.edu 37 16 15727481 15727481 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014647.3 -1 validated p.N409T 1.000 59 0% 59 28.8% 4 50% probably_damaging(0.987) deleterious(0.02) deleterious(0.820) HMMPfam_DUF537 MYH11 4629 genome.wustl.edu 37 16 15814759 15814759 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001040114.1 -1 reviewed p.F1583 0.630 122 0.8% 181 33.1% 49 0% - - - HMMPfam_Myosin_tail_1 MYH11 4629 genome.wustl.edu 37 16 15931948 15931948 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001040114.1 -1 reviewed p.K54N 0.963 304 0% 713 30.6% 12 0% benign(0.064) tolerated(0.31) neutral(0.031) HMMPfam_Myosin_N,superfamily_SSF52540 ABCC1 4363 genome.wustl.edu 37 16 16108483 16108483 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004996.3 +1 reviewed p.E163* 0.962 96 0% 215 33.5% 1 0% - - - NULL ABCC1 4363 genome.wustl.edu 37 16 16130428 16130428 + Silent SNP G G A rs148057395 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004996.3 +1 reviewed p.K259 0.965 54 0% 108 27.8% 9 77.7% - - - NULL ABCC1 4363 genome.wustl.edu 37 16 16149977 16149977 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004996.3 +1 reviewed p.R501Q 1.000 114 1.8% 184 37.5% 5 0% probably_damaging(0.962) deleterious(0) deleterious(0.850) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCC1 4363 genome.wustl.edu 37 16 16228314 16228314 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004996.3 +1 reviewed p.I1358 0.940 44 0% 61 34.4% 26 23% - - - HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCC6 368 genome.wustl.edu 37 16 16271483 16271483 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001171.5 -1 reviewed p.T806A 1.000 137 0% 251 32.7% 0 - benign(0.163) deleterious(0.01) neutral(0.420) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCC6 368 genome.wustl.edu 37 16 16281023 16281023 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001171.5 -1 reviewed p.E609* 1.000 57 0% 91 41.8% 0 - - - - superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCC6 368 genome.wustl.edu 37 16 16302655 16302655 + Nonsense_Mutation SNP C C A rs72650697 TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001171.5 -1 reviewed p.E242* 0.898 104 0% 130 30% 0 - - - - NULL NOMO3 408050 genome.wustl.edu 37 16 16346289 16346289 + Splice_Site SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004067.2 +1 reviewed e9-1 1.000 458 0% 830 20.1% 0 - - - - - XYLT1 64131 genome.wustl.edu 37 16 17235219 17235219 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022166.3 -1 reviewed p.R460W 1.000 52 0% 70 35.7% 0 - possibly_damaging(0.674) deleterious(0) deleterious(0.684) HMMPfam_Branch XYLT1 64131 genome.wustl.edu 37 16 17252767 17252767 + Splice_Site SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022166.3 -1 reviewed e6-1 1.000 121 0% 149 36.9% 0 - - - - - XYLT1 64131 genome.wustl.edu 37 16 17352928 17352928 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022166.3 -1 reviewed p.R277H 1.000 62 1.6% 77 40.3% 2 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL ARL6IP1 23204 genome.wustl.edu 37 16 18809268 18809268 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015161.1 -1 provisional p.R90I 1.000 98 0% 223 40.4% 196 45.9% probably_damaging(0.983) tolerated(0.15) deleterious(0.670) HMMPfam_Reticulon SMG1 23049 genome.wustl.edu 37 16 18839478 18839478 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015092.4 -1 reviewed p.D3206Y 1.000 158 0% 237 30.8% 8 62.5% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL SMG1 23049 genome.wustl.edu 37 16 18844442 18844442 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015092.4 -1 reviewed p.R2871Q 1.000 111 0% 230 34.3% 3 0% probably_damaging(0.995) deleterious(0.04) deleterious(0.806) NULL SMG1 23049 genome.wustl.edu 37 16 18847408 18847408 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015092.4 -1 reviewed p.R2635H 1.000 87 0% 99 41.4% 6 66.6% probably_damaging(0.998) tolerated(0.16) deleterious(0.534) NULL SMG1 23049 genome.wustl.edu 37 16 18858832 18858832 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015092.4 -1 reviewed p.R1980Q 1.000 124 0% 258 32.6% 4 0% probably_damaging(0.997) deleterious(0.02) deleterious(0.849) NULL SMG1 23049 genome.wustl.edu 37 16 18907500 18907500 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015092.4 -1 reviewed p.E96K 1.000 178 0% 382 22.8% 2 0% possibly_damaging(0.945) tolerated(0.11) deleterious(0.661) NULL TMC7 79905 genome.wustl.edu 37 16 19056743 19056743 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024847.3 +1 validated p.F512 0.995 91 0% 178 32% 3 66.6% - - - HMMPfam_TMC TMC5 79838 genome.wustl.edu 37 16 19509248 19509248 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001105248.1 +1 validated p.R994Q 0.997 155 0% 267 29.6% 3 66.6% benign(0) tolerated(0.63) neutral(0.004) NULL CCP110 9738 genome.wustl.edu 37 16 19548204 19548204 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014711.4 +1 validated p.E405* 0.994 109 0% 205 32.7% 3 0% - - - NULL GPRC5B 51704 genome.wustl.edu 37 16 19883244 19883244 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016235.1 -1 reviewed p.F308 0.984 72 0% 134 33.6% 14 71.4% - - - NULL GPR139 124274 genome.wustl.edu 37 16 20043470 20043470 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001002911.2 -1 validated p.R217C 1.000 89 0% 204 35.3% 0 - possibly_damaging(0.555) deleterious(0.02) deleterious(0.573) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ACSM2B 348158 genome.wustl.edu 37 16 20554317 20554317 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001105069.1 -1 validated p.S476 0.993 424 0% 489 26.8% 0 - - - - HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like ACSM2B 348158 genome.wustl.edu 37 16 20559407 20559407 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001105069.1 -1 validated p.E359* 1.000 142 0% 124 32.3% 0 - - - - HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like ACSM2B 348158 genome.wustl.edu 37 16 20559486 20559486 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001105069.1 -1 validated p.Q332H 0.101 173 0% 146 30.8% 0 - benign(0.001) tolerated(0.07) neutral(0.319) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like ACSM1 116285 genome.wustl.edu 37 16 20635481 20635481 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_052956.2 -1 validated p.Q528 0.989 223 0% 406 32.3% 1 100% - - - superfamily_Acetyl-CoA synthetase-like THUMPD1 55623 genome.wustl.edu 37 16 20748276 20748276 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017736.3 -1 validated p.E330* 0.856 335 0% 296 32.4% 7 28.5% - - - NULL ERI2 112479 genome.wustl.edu 37 16 20802179 20802179 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_080663.2 -1 validated p.E270* 0.014 128 0% 158 38.6% 0 - - - - NULL ERI2 112479 genome.wustl.edu 37 16 20810217 20810217 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142725.1 -1 validated p.S302Y 0.072 138 0% 134 34.3% 2 50% benign(0) deleterious(0) neutral(0.445) NULL LOC81691 81691 genome.wustl.edu 37 16 20838495 20838495 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030941.2 +1 validated p.D313Y 0.953 106 0% 128 27.3% 1 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMSmart_SM00479,superfamily_Ribonuclease H-like,HMMPfam_Exonuc_X-T LYRM1 57149 genome.wustl.edu 37 16 20935419 20935419 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001128301.1 +1 validated p.S117Y 1.000 85 0% 160 22.5% 13 53.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL DNAH3 55567 genome.wustl.edu 37 16 20944750 20944750 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017539.1 -1 provisional p.R4026H 1.000 200 1% 335 35.8% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Dynein_heavy DNAH3 55567 genome.wustl.edu 37 16 20966352 20966352 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017539.1 -1 provisional p.E3618D 1.000 153 0% 206 33.5% 1 0% benign(0.002) tolerated(0.73) neutral(0.002) HMMPfam_Dynein_heavy DNAH3 55567 genome.wustl.edu 37 16 20974859 20974859 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017539.1 -1 provisional p.I3449 1.000 87 0% 190 28.4% 0 - - - - HMMPfam_Dynein_heavy DNAH3 55567 genome.wustl.edu 37 16 20975159 20975159 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017539.1 -1 provisional p.I3349 1.000 58 0% 133 33.1% 0 - - - - NULL DNAH3 55567 genome.wustl.edu 37 16 20975419 20975419 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017539.1 -1 provisional p.L3263M 0.148 91 0% 186 37.1% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL DNAH3 55567 genome.wustl.edu 37 16 21011583 21011583 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017539.1 -1 provisional p.F2128 0.980 119 0% 315 33.3% 0 - - - - HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH3 55567 genome.wustl.edu 37 16 21053447 21053447 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017539.1 -1 provisional p.F1514V 1.000 178 0.6% 233 33% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH3 55567 genome.wustl.edu 37 16 21073923 21073923 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017539.1 -1 provisional p.K1200N 1.000 135 0% 252 32.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_DHC_N2 DNAH3 55567 genome.wustl.edu 37 16 21078666 21078666 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017539.1 -1 provisional p.L1152 0.415 119 0% 144 26.4% 0 - - - - HMMPfam_DHC_N2 DNAH3 55567 genome.wustl.edu 37 16 21147743 21147743 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017539.1 -1 provisional p.S263Y 0.992 187 0% 367 34.3% 0 - benign(0.275) deleterious(0.04) neutral(0.378) NULL DNAH3 55567 genome.wustl.edu 37 16 21156711 21156711 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017539.1 -1 provisional p.S80N 1.000 112 0% 233 32.6% 0 - probably_damaging(0.996) tolerated(0.1) deleterious(0.748) NULL IGSF6 10261 genome.wustl.edu 37 16 21658676 21658676 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005849.2 -1 validated p.R69C 1.000 83 0% 136 33.8% 10 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 ENSG00000235406 0 genome.wustl.edu 37 16 21906909 21906909 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000457001 -1 known p.F187L 1.000 76 0% 167 37.1% 19 0% - - - NULL VWA3A 146177 genome.wustl.edu 37 16 22108241 22108241 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173615.3 +1 validated p.E26* 0.025 212 0% 243 35.8% 0 - - - - NULL VWA3A 146177 genome.wustl.edu 37 16 22111589 22111589 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173615.3 +1 validated p.K100N 0.264 89 0% 99 21.2% 0 - possibly_damaging(0.677) deleterious(0.04) deleterious(0.590) NULL VWA3A 146177 genome.wustl.edu 37 16 22111743 22111743 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173615.3 +1 validated p.E119 0.080 155 0% 195 32.3% 0 - - - - NULL VWA3A 146177 genome.wustl.edu 37 16 22126743 22126743 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173615.3 +1 validated p.K255N 0.020 55 0% 93 36.6% 0 - probably_damaging(0.992) tolerated(0.35) neutral(0.468) superfamily_vWA-like POLR3E 55718 genome.wustl.edu 37 16 22328358 22328358 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018119.2 +1 validated p.E257D 1.000 62 0% 89 25.8% 25 36% possibly_damaging(0.637) tolerated(0.17) neutral(0.282) HMMPfam_Sin_N SCNN1G 6340 genome.wustl.edu 37 16 23205491 23205491 + Splice_Site SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001039.3 +1 reviewed e4-1 0.972 131 0% 218 32.6% 0 - - - - - SCNN1G 6340 genome.wustl.edu 37 16 23226490 23226490 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001039.3 +1 reviewed p.I550 0.160 153 0% 224 34.8% 0 - - - - HMMPfam_ASC SCNN1B 6338 genome.wustl.edu 37 16 23391825 23391825 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000336.2 +1 reviewed p.E542D 1.000 72 0% 106 40.6% 1 0% probably_damaging(0.97) deleterious(0) deleterious(0.857) HMMPfam_ASC COG7 91949 genome.wustl.edu 37 16 23453819 23453819 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153603.3 -1 reviewed p.A195T 0.501 76 0% 106 29.2% 10 40% benign(0.001) tolerated(0.1) neutral(0.286) HMMPfam_COG7 PALB2 79728 genome.wustl.edu 37 16 23614824 23614824 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024675.3 -1 reviewed p.A1173S 1.000 100 0% 190 29.5% 22 40.9% probably_damaging(0.992) deleterious(0) deleterious(0.892) superfamily_WD40_like PALB2 79728 genome.wustl.edu 37 16 23647099 23647099 + Silent SNP G G A rs45487491 TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024675.3 -1 reviewed p.S256 0.000 103 0% 164 32.3% 4 50% - - - NULL ERN2 10595 genome.wustl.edu 37 16 23716227 23716227 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033266.3 -1 validated p.F325L 0.884 22 0% 17 29.4% 0 - possibly_damaging(0.792) tolerated(0.65) neutral(0.300) NULL ERN2 10595 genome.wustl.edu 37 16 23717685 23717685 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033266.3 -1 validated p.Y233* 1.000 103 0% 223 38.6% 0 - - - - superfamily_Quinoprotein alcohol dehydrogenase-like PRKCB 5579 genome.wustl.edu 37 16 23847556 23847556 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002738.6 +1 reviewed p.F20 0.999 54 0% 59 44.1% 0 - - - - superfamily_Cysteine-rich domain CACNG3 10368 genome.wustl.edu 37 16 24366239 24366239 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006539.2 +1 reviewed p.F127 1.000 100 0% 96 34.4% 0 - - - - HMMPfam_PMP22_Claudin RBBP6 5930 genome.wustl.edu 37 16 24567634 24567634 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006910.4 +1 reviewed p.K180N 1.000 108 0% 153 39.9% 7 14.2% possibly_damaging(0.605) tolerated(0.1) deleterious(0.496) superfamily_Retrovirus zinc finger-like domains TNRC6A 27327 genome.wustl.edu 37 16 24741605 24741605 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014494.2 +1 reviewed p.E13* 1.000 59 0% 148 25% 2 50% - - - NULL TNRC6A 27327 genome.wustl.edu 37 16 24802773 24802773 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014494.2 +1 reviewed p.S937L 0.994 42 0% 66 25.8% 4 25% benign(0.111) deleterious(0.02) neutral(0.392) NULL TNRC6A 27327 genome.wustl.edu 37 16 24835087 24835087 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014494.2 +1 reviewed p.L1950I 1.000 39 0% 54 24.1% 9 33.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SLC5A11 115584 genome.wustl.edu 37 16 24909324 24909324 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000449109 +1 known p.E168* 1.000 96 0% 144 29.2% 0 - - - - HMMPfam_SSF ARHGAP17 55114 genome.wustl.edu 37 16 24942320 24942320 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001006634.1 -1 validated p.G767V 0.146 108 0% 210 30% 26 46.1% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL LCMT1 51451 genome.wustl.edu 37 16 25172517 25172517 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016309.2 +1 validated p.M187I 1.000 68 0% 96 34.4% 82 46.3% benign(0) tolerated(0.65) neutral(0.003) HMMPfam_LCM,superfamily_S-adenosyl-L-methionine-dependent methyltransferases AQP8 343 genome.wustl.edu 37 16 25235696 25235696 + Missense_Mutation SNP A A T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001169.2 +1 reviewed p.E134V 0.199 136 0% 294 29.6% 0 - possibly_damaging(0.561) tolerated(0.24) neutral(0.229) HMMPfam_MIP,superfamily_MIP HS3ST4 9951 genome.wustl.edu 37 16 25704251 25704251 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000331351 +1 known p.L171 0.942 13 0.000 9 0.444 0 - - - - NULL NSMCE1 197370 genome.wustl.edu 37 16 27236549 27236549 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145080.3 -1 validated p.D244N 0.996 60 0% 78 41% 127 32.2% benign(0) tolerated(0.67) neutral(0.003) superfamily_SSF57850 KIAA0556 23247 genome.wustl.edu 37 16 27709696 27709696 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015202.2 +1 validated p.L330I 0.000 23 0% 30 30% 3 66.6% benign(0.001) tolerated(0.93) - NULL GSG1L 146395 genome.wustl.edu 37 16 27818830 27818830 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001109763.1 -1 validated p.C292 0.991 120 0% 179 36.3% 0 - - - - NULL GSG1L 146395 genome.wustl.edu 37 16 27895827 27895827 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001109763.1 -1 validated p.A177D 0.999 105 0% 187 41.2% 0 - probably_damaging(0.987) deleterious(0) deleterious(0.881) NULL XPO6 23214 genome.wustl.edu 37 16 28123303 28123303 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015171.2 -1 provisional p.L726I 1.000 94 0% 174 31.6% 40 37.5% probably_damaging(1) tolerated(0.33) deleterious(0.524) superfamily_ARM repeat APOBR 55911 genome.wustl.edu 37 16 28507205 28507205 + Missense_Mutation SNP G G T rs9745769 TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018690.2 +1 reviewed p.E281D 0.000 53 0% 184 27.2% 3 0% possibly_damaging(0.857) deleterious(0) deleterious(0.776) NULL SH2B1 25970 genome.wustl.edu 37 16 28883924 28883924 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015503.2 +1 reviewed p.D599N 1.000 80 0% 167 31.7% 52 34.6% benign(0.408) deleterious(0) deleterious(0.577) HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain ATP2A1 487 genome.wustl.edu 37 16 28912088 28912088 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173201.2 +1 reviewed p.R651C 0.656 43 0% 79 34.2% 2 100% benign(0.001) tolerated(0.05) neutral(0.345) HMMPfam_Hydrolase,superfamily_HAD-like,superfamily_Calcium ATPase transmembrane domain M CD19 930 genome.wustl.edu 37 16 28944746 28944746 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001770.5 +1 reviewed p.A251T 0.501 78 0% 115 26.1% 1 0% possibly_damaging(0.93) deleterious(0.02) deleterious(0.760) HMMSmart_IG,superfamily_SSF48726 CD19 930 genome.wustl.edu 37 16 28946817 28946817 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001770.5 +1 reviewed p.T296 0.083 311 0% 544 32.4% 1 0% - - - NULL LOC728888 728888 genome.wustl.edu 37 16 29394358 29394358 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002343430.1 -1 model p.R632H 0.114 39 0% 79 34.2% 1 0% possibly_damaging(0.774) tolerated(0.1) deleterious(0.575) NULL MVP 9961 genome.wustl.edu 37 16 29853120 29853120 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005115.3 +1 reviewed p.N465 0.079 22 0% 48 39.6% 51 15.6% - - - NULL SEZ6L2 26470 genome.wustl.edu 37 16 29883759 29883759 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_201575.2 -1 validated p.L859 0.998 46 0% 82 29.3% 394 50.2% - - - NULL SEZ6L2 26470 genome.wustl.edu 37 16 29906661 29906661 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_201575.2 -1 validated p.R258W 1.000 43 0% 95 29.5% 112 46.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00042,superfamily_Spermadhesin CUB domain INO80E 283899 genome.wustl.edu 37 16 30016649 30016649 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173618.1 +1 provisional p.K207N 1.000 13 0% 14 42.9% 14 28.5% possibly_damaging(0.85) deleterious(0.05) deleterious(0.672) NULL DOC2A 8448 genome.wustl.edu 37 16 30017974 30017974 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003586.2 -1 reviewed p.K301N 1.000 247 0% 595 33.6% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB DCTPP1 79077 genome.wustl.edu 37 16 30435671 30435671 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024096.1 -1 provisional p.H132Q 0.365 56 0% 117 30.8% 105 30.4% benign(0.008) tolerated(0.22) neutral(0.042) HMMPfam_MazG,superfamily_SSF101386 ITGAL 3683 genome.wustl.edu 37 16 30492874 30492874 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002209.2 +1 reviewed p.T231A 1.000 100 0% 267 34.8% 2 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like,superfamily_Integrin alpha N-terminal domain ZNF785 146540 genome.wustl.edu 37 16 30594596 30594596 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152458.5 -1 provisional p.R168Q 0.000 57 1.8% 110 34.5% 9 55.5% possibly_damaging(0.886) tolerated(0.34) neutral(0.369) superfamily_C2H2 and C2HC zinc fingers PHKG2 5261 genome.wustl.edu 37 16 30762462 30762462 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000294.2 +1 reviewed p.R44Q 1.000 83 0% 143 32.2% 38 47.3% probably_damaging(0.976) deleterious(0.01) deleterious(0.824) HMMSmart_S_TKc,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase C16orf93 90835 genome.wustl.edu 37 16 30770761 30770761 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001014979.1 -1 predicted p.D150N 0.945 101 0% 155 33.5% 5 60% benign(0.01) tolerated(0.78) neutral(0.002) NULL ZNF646 9726 genome.wustl.edu 37 16 31094408 31094408 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014699.3 +1 validated p.L1832I 1.000 66 0% 122 33.6% 16 18.7% possibly_damaging(0.921) deleterious(0) deleterious(0.816) NULL ITGAM 3684 genome.wustl.edu 37 16 31273069 31273069 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000632.3 +1 reviewed p.E29* 0.001 80 0% 188 34.6% 0 - - - - superfamily_SSF69318 ITGAD 3681 genome.wustl.edu 37 16 31405651 31405651 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005353.2 +1 validated p.F42 0.597 109 0% 204 36.3% 3 33.3% - - - HMMSmart_SM00191,superfamily_Integrin alpha N-terminal domain ITGAD 3681 genome.wustl.edu 37 16 31421750 31421750 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005353.2 +1 validated p.S373I 0.005 115 0% 208 28.8% 0 - possibly_damaging(0.604) deleterious(0) deleterious(0.654) superfamily_Integrin alpha N-terminal domain ITGAD 3681 genome.wustl.edu 37 16 31434441 31434441 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005353.2 +1 validated p.E929D 0.992 105 0% 178 35.4% 0 - benign(0.031) tolerated(0.11) neutral(0.273) HMMPfam_Integrin_alpha2 ARMC5 79798 genome.wustl.edu 37 16 31473811 31473811 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001105247.1 +1 validated p.R315W 0.969 54 0% 80 31.2% 7 14.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00185,superfamily_ARM repeat TGFB1I1 7041 genome.wustl.edu 37 16 31485262 31485262 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001042454.2 +1 reviewed p.L97F 1.000 54 0% 77 27.3% 16 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ZNF720 124411 genome.wustl.edu 37 16 31765419 31765419 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000398696 +1 known p.N117H 0.002 10 0% 10 40% 1 100% benign(0.04) deleterious(0.03) neutral(0.367) NULL ZNF267 10308 genome.wustl.edu 37 16 31895849 31895849 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003414.4 +1 validated p.E12* 0.285 178 0% 218 29.4% 4 50% - - - HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF267 10308 genome.wustl.edu 37 16 31926190 31926190 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003414.4 +1 validated p.R207Q 0.023 53 0% 45 51.1% 4 25% benign(0) tolerated(0.52) neutral(0.009) NULL LOC729264 729264 genome.wustl.edu 37 16 32264816 32264816 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_001133674.2 +1 model p.R48C 0.483 310 0% 404 13.9% 0 - - - - NULL LOC401847 401847 genome.wustl.edu 37 16 33605679 33605679 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_001718104.2 +1 model p.A116 0.951 120 0% 135 20.7% 0 - - - - HMMSmart_SM00406,HMMPfam_V-set,superfamily_Immunoglobulin ENSG00000200434 0 genome.wustl.edu 37 16 33965525 33965525 + RNA SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000363564 +1 novel NULL 1.000 76 0% 94 20.2% 0 - - - - - ENSG00000214581 0 genome.wustl.edu 37 16 34681604 34681604 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000398617 -1 known p.E81K 0.995 36 0% 29 27.6% 0 - possibly_damaging(0.609) tolerated(0.93) neutral(0.211) NULL ENSG00000214581 0 genome.wustl.edu 37 16 34681713 34681713 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000398617 -1 known p.I44M 0.000 36 0% 17 35.3% 0 - possibly_damaging(0.675) tolerated(0.1) deleterious(0.526) NULL LOC100130700 100130700 genome.wustl.edu 37 16 34739755 34739755 + RNA SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XR_078680.1 -1 model NULL 0.001 379 0% 357 14.8% 1 0% - - - - SHCBP1 79801 genome.wustl.edu 37 16 46633778 46633778 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024745.4 -1 validated p.K437T 1.000 167 0% 236 30.9% 5 20% benign(0.319) tolerated(0.9) neutral(0.100) HMMSmart_SM00710,superfamily_Pectin lyase-like SHCBP1 79801 genome.wustl.edu 37 16 46637895 46637895 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024745.4 -1 validated p.E362* 0.998 24 0% 38 36.8% 5 0% - - - NULL VPS35 55737 genome.wustl.edu 37 16 46696196 46696196 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018206.4 -1 reviewed p.L676I 1.000 135 0% 232 34.1% 115 40% benign(0.201) deleterious(0.04) neutral(0.368) HMMPfam_Vps35 MYLK3 91807 genome.wustl.edu 37 16 46782049 46782049 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182493.2 -1 validated p.K19N 0.810 50 0% 98 29.6% 0 - benign(0.323) deleterious(0.03) neutral(0.466) NULL DNAJA2 10294 genome.wustl.edu 37 16 46991120 46991120 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005880.3 -1 reviewed p.L354I 1.000 114 0% 190 37.9% 80 51.2% benign(0.006) tolerated(0.52) neutral(0.009) HMMPfam_DnaJ_C PHKB 5257 genome.wustl.edu 37 16 47730390 47730390 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000293.2 +1 reviewed p.I998 0.008 169 0% 214 29.4% 28 46.4% - - - HMMPfam_PHK_AB ABCC12 94160 genome.wustl.edu 37 16 48138226 48138226 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033226.2 -1 reviewed p.M909I 1.000 141 0% 201 29.9% 0 - benign(0.123) tolerated(0.13) neutral(0.263) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCC11 85320 genome.wustl.edu 37 16 48201483 48201483 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032583.3 -1 reviewed p.C1327F 1.000 116 0% 147 29.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCC11 85320 genome.wustl.edu 37 16 48218513 48218513 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032583.3 -1 reviewed p.Q1032H 0.011 155 0% 203 37.9% 0 - benign(0.001) tolerated(0.08) neutral(0.300) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCC11 85320 genome.wustl.edu 37 16 48245055 48245055 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032583.3 -1 reviewed p.S471I 0.114 96 0% 122 35.2% 0 - possibly_damaging(0.776) tolerated(0.06) deleterious(0.612) superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCC11 85320 genome.wustl.edu 37 16 48249171 48249171 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032583.3 -1 reviewed p.L346I 0.995 205 0% 229 33.2% 1 0% probably_damaging(0.964) deleterious(0) deleterious(0.851) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCC11 85320 genome.wustl.edu 37 16 48258332 48258332 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032583.3 -1 reviewed p.R135H 0.012 90 0% 117 27.4% 0 - possibly_damaging(0.931) tolerated(0.07) deleterious(0.697) NULL LONP2 83752 genome.wustl.edu 37 16 48385567 48385567 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031490.2 +1 provisional p.E805* 1.000 76 0% 144 34% 32 31.2% - - - HMMPfam_Lon_C,superfamily_Ribosomal_S5_D2-typ_fold N4BP1 9683 genome.wustl.edu 37 16 48595554 48595554 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153029.3 -1 validated p.L334V 0.003 97 0% 109 39.4% 8 62.5% possibly_damaging(0.596) tolerated(0.21) neutral(0.250) NULL CBLN1 869 genome.wustl.edu 37 16 49313428 49313428 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004352.3 -1 validated p.V157F 1.000 129 0% 173 37.6% 2 50% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) HMMPfam_C1q,HMMSmart_SM00110,superfamily_TNF-like C16orf78 123970 genome.wustl.edu 37 16 49407855 49407855 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144602.2 +1 predicted p.S2* 0.000 117 0% 212 40.6% 0 - - - - NULL C16orf78 123970 genome.wustl.edu 37 16 49430390 49430390 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144602.2 +1 predicted p.R151S 0.003 120 0% 176 30.1% 0 - benign(0.325) deleterious(0) deleterious(0.546) NULL ZNF423 23090 genome.wustl.edu 37 16 49670466 49670466 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015069.2 -1 reviewed p.P866H 0.996 102 0% 133 32.3% 12 58.3% benign(0.001) tolerated(0.21) neutral(0.044) NULL ZNF423 23090 genome.wustl.edu 37 16 49670875 49670875 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015069.2 -1 reviewed p.D730N 1.000 139 0% 173 31.2% 11 18.1% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2 ZNF423 23090 genome.wustl.edu 37 16 49671499 49671499 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015069.2 -1 reviewed p.C522R 1.000 177 0% 365 32.6% 8 87.5% probably_damaging(1) deleterious(0) deleterious(0.945) PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2 ZNF423 23090 genome.wustl.edu 37 16 49764798 49764798 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015069.2 -1 reviewed p.R54K 1.000 334 0% 409 29.3% 4 50% benign(0.028) tolerated(0.06) neutral(0.324) NULL BRD7 29117 genome.wustl.edu 37 16 50353169 50353169 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013263.3 -1 validated p.E637* 1.000 123 0% 206 30.6% 113 17.6% - - - NULL NKD1 85407 genome.wustl.edu 37 16 50666255 50666255 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033119.3 +1 provisional p.I253 0.346 105 0% 120 30.8% 55 58.1% - - - NULL NOD2 64127 genome.wustl.edu 37 16 50744482 50744482 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022162.1 +1 reviewed p.K220 0.960 91 0% 134 30.6% 0 - - - - NULL NOD2 64127 genome.wustl.edu 37 16 50744798 50744798 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022162.1 +1 reviewed p.L326I 0.261 43 0% 48 29.2% 0 - probably_damaging(0.992) tolerated(0.3) deleterious(0.476) HMMPfam_NACHT,superfamily_P-loop containing nucleoside triphosphate hydrolases NOD2 64127 genome.wustl.edu 37 16 50745143 50745143 + Missense_Mutation SNP G G A rs104895432 byCluster;byFrequency TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022162.1 +1 reviewed p.E441K 0.671 30 0% 33 45.5% 0 - probably_damaging(1) tolerated(0.64) deleterious(0.503) HMMPfam_NACHT,superfamily_P-loop containing nucleoside triphosphate hydrolases CYLD 1540 genome.wustl.edu 37 16 50788328 50788328 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015247.2 +1 reviewed p.I302 0.998 373 0% 341 29.6% 6 50% - - - HMMPfam_CAP_GLY,superfamily_Cap-Gly domain CYLD 1540 genome.wustl.edu 37 16 50818327 50818327 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015247.2 +1 reviewed p.E638 1.000 221 0.9% 291 32.3% 6 66.6% - - - HMMPfam_UCH,superfamily_Cysteine proteinases SALL1 6299 genome.wustl.edu 37 16 51172912 51172912 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002968.2 -1 reviewed p.A1074V 0.984 175 0% 267 35.6% 71 43.6% benign(0.032) tolerated(0.08) neutral(0.301) NULL TOX3 27324 genome.wustl.edu 37 16 52478261 52478261 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080430.2 -1 reviewed p.K305T 1.000 238 0% 146 30.8% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HMG_box,HMMSmart_HMG,superfamily_HMG-box TOX3 27324 genome.wustl.edu 37 16 52479986 52479986 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080430.2 -1 reviewed p.Q276* 1.000 335 0% 281 35.2% 0 - - - - HMMPfam_HMG_box,HMMSmart_HMG,superfamily_HMG-box CHD9 80205 genome.wustl.edu 37 16 53337880 53337880 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025134.4 +1 validated p.R1988C 1.000 103 0% 234 34.6% 1 0% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL CHD9 80205 genome.wustl.edu 37 16 53358202 53358202 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025134.4 +1 validated p.G2681S 0.279 56 0% 85 34.1% 4 25% unknown(0) tolerated(0.06) - NULL CHD9 80205 genome.wustl.edu 37 16 53358256 53358256 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025134.4 +1 validated p.L2699 1.000 56 0% 84 39.3% 4 50% - - - NULL LOC643802 643802 genome.wustl.edu 37 16 53404710 53404710 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_001719265.1 -1 model p.F126L 1.000 51 0% 57 21.1% 0 - - - - HMMPfam_Mpp10 RPGRIP1L 23322 genome.wustl.edu 37 16 53679623 53679623 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015272.2 -1 reviewed p.F866S 1.000 191 0% 256 31.6% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) RPGRIP1L 23322 genome.wustl.edu 37 16 53686795 53686795 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015272.2 -1 reviewed p.R602* 1.000 98 0% 136 31.6% 1 0% - - - NULL RPGRIP1L 23322 genome.wustl.edu 37 16 53705430 53705430 + Silent SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015272.2 -1 reviewed p.L365 0.973 308 0% 312 34.9% 1 100% - - - NULL RPGRIP1L 23322 genome.wustl.edu 37 16 53720482 53720482 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015272.2 -1 reviewed p.N213 1.000 235 0% 134 28.4% 1 100% - - - NULL FTO 79068 genome.wustl.edu 37 16 53859803 53859803 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080432.2 +1 reviewed p.L51I 0.906 41 0% 35 34.3% 5 40% benign(0.119) tolerated(0.11) neutral(0.281) NULL FTO 79068 genome.wustl.edu 37 16 53913822 53913822 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080432.2 +1 reviewed p.D348N 0.017 288 0% 444 34.7% 7 57.1% benign(0.058) tolerated(0.18) neutral(0.060) NULL FTO 79068 genome.wustl.edu 37 16 53922747 53922747 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080432.2 +1 reviewed p.E375K 1.000 255 0% 376 34.3% 12 25% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL MMP2 4313 genome.wustl.edu 37 16 55523651 55523651 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004530.4 +1 reviewed p.S365 0.028 55 0% 70 38.6% 271 0.7% - - - HMMPfam_fn2,HMMSmart_FN2,PatternScan_FN2_1,HMMPfam_Peptidase_M10,HMMSmart_ZnMc,superfamily_Kringle-like,superfamily_SSF55486 MMP2 4313 genome.wustl.edu 37 16 55539335 55539335 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004530.4 +1 reviewed p.S655F 0.030 176 0% 217 30.9% 300 4.3% possibly_damaging(0.865) tolerated(0.58) neutral(0.340) superfamily_Hemopexin,HMMPfam_Hemopexin,HMMSmart_HX LPCAT2 54947 genome.wustl.edu 37 16 55562317 55562317 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017839.4 +1 reviewed p.L114M 1.000 269 0% 237 35% 1 0% possibly_damaging(0.45) tolerated(0.17) neutral(0.206) superfamily_Glycerol-3-phosphate (1)-acyltransferase LPCAT2 54947 genome.wustl.edu 37 16 55613065 55613065 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017839.4 +1 reviewed p.F453L 0.663 260 0% 172 36% 1 0% benign(0.002) tolerated(0.79) neutral(0.001) HMMSmart_SM00054,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_EF-hand SLC6A2 6530 genome.wustl.edu 37 16 55703504 55703504 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001043.3 +1 reviewed p.F101S 1.000 77 0% 68 32.4% 0 - possibly_damaging(0.943) deleterious(0) deleterious(0.832) HMMPfam_SNF CES1 1066 genome.wustl.edu 37 16 55846938 55846938 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001025195.1 -1 reviewed p.G321 0.000 137 0% 178 35.4% 1 0% - - - HMMPfam_COesterase,superfamily_SSF53474 CES5A 221223 genome.wustl.edu 37 16 55903656 55903656 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001143685.1 -1 validated p.V140I 1.000 67 0% 68 30.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases GNAO1 2775 genome.wustl.edu 37 16 56370697 56370697 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020988.2 +1 validated p.F216L 0.790 62 0% 89 34.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_G-alpha,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases GNAO1 2775 genome.wustl.edu 37 16 56388909 56388909 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020988.2 +1 validated p.D337N 1.000 133 0% 205 31.7% 0 - benign(0.005) tolerated(0.06) neutral(0.323) HMMPfam_G-alpha,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases AMFR 267 genome.wustl.edu 37 16 56423100 56423100 + Missense_Mutation SNP C C T rs62035982 TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001144.4 -1 reviewed p.D425N 1.000 154 0% 222 38.7% 26 50% possibly_damaging(0.779) tolerated(0.3) neutral(0.320) NULL AMFR 267 genome.wustl.edu 37 16 56436932 56436932 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001144.4 -1 reviewed p.K313N 1.000 99 0% 252 28.2% 44 29.5% benign(0.196) tolerated(0.18) neutral(0.074) NULL AMFR 267 genome.wustl.edu 37 16 56436948 56436948 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001144.4 -1 reviewed p.R308Q 1.000 101 0% 254 31.9% 44 25% possibly_damaging(0.563) tolerated(0.16) neutral(0.252) NULL SLC12A3 6559 genome.wustl.edu 37 16 56901107 56901107 + Silent SNP C C T rs142561570 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000339.2 +1 reviewed p.F136 0.934 81 0% 188 28.7% 0 - - - - NULL SLC12A3 6559 genome.wustl.edu 37 16 56920909 56920909 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000339.2 +1 reviewed p.N694 0.004 39 0% 77 33.8% 0 - - - - NULL CETP 1071 genome.wustl.edu 37 16 57007266 57007266 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000078.2 +1 reviewed p.V258 0.113 61 0% 159 35.2% 0 - - - - HMMPfam_LBP_BPI_CETP_C,HMMSmart_SM00328,superfamily_Bactericidal permeability-increasing protein BPI NLRC5 84166 genome.wustl.edu 37 16 57070056 57070056 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032206.3 +1 validated p.A891V 0.666 25 0% 63 39.7% 4 0% possibly_damaging(0.489) tolerated(0.1) neutral(0.449) HMMSmart_SM00368,HMMSmart_SM00367,superfamily_RNI-like NLRC5 84166 genome.wustl.edu 37 16 57115448 57115448 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032206.3 +1 validated p.K1805N 0.996 118 0% 222 23% 3 0% probably_damaging(0.961) tolerated(0.1) deleterious(0.691) HMMSmart_SM00368,superfamily_RNI-like CPNE2 221184 genome.wustl.edu 37 16 57153147 57153147 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152727.4 +1 reviewed p.K183R 1.000 115 0% 239 38.5% 12 16.6% benign(0.328) tolerated(1) neutral(0.103) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB DOK4 55715 genome.wustl.edu 37 16 57508716 57508716 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018110.3 -1 validated p.F196 0.992 73 0% 127 33.1% 8 25% - - - HMMPfam_IRS,HMMSmart_PTBI,superfamily_SSF50729 CCDC135 84229 genome.wustl.edu 37 16 57756927 57756927 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032269.5 +1 validated p.L474F 0.984 45 0% 100 37% 0 - possibly_damaging(0.775) tolerated(0.12) deleterious(0.549) NULL CCDC135 84229 genome.wustl.edu 37 16 57760192 57760192 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032269.5 +1 validated p.F657 0.967 24 0% 42 28.6% 0 - - - - NULL CCDC135 84229 genome.wustl.edu 37 16 57760807 57760807 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032269.5 +1 validated p.R680G 0.000 89 0% 199 28.1% 0 - benign(0.026) tolerated(0.15) neutral(0.242) NULL CCDC135 84229 genome.wustl.edu 37 16 57764958 57764958 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032269.5 +1 validated p.R836H 1.000 101 0% 166 33.7% 1 100% probably_damaging(0.999) tolerated(0.45) deleterious(0.502) NULL KATNB1 10300 genome.wustl.edu 37 16 57789048 57789048 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005886.2 +1 reviewed p.R438 0.270 48 0% 39 33.3% 68 38.2% - - - NULL CNGB1 1258 genome.wustl.edu 37 16 57950054 57950054 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001297.4 -1 reviewed p.Y732 1.000 131 0% 195 33.8% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels C16orf57 79650 genome.wustl.edu 37 16 58036536 58036536 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024598.2 +1 validated p.H84 0.815 29 0% 35 28.6% 25 52% - - - HMMPfam_HVSL CNOT1 23019 genome.wustl.edu 37 16 58589408 58589408 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016284.3 -1 validated p.T880A 1.000 123 0% 184 30.4% 13 69.2% benign(0.026) tolerated(0.28) neutral(0.033) NULL CDH8 1006 genome.wustl.edu 37 16 61761184 61761184 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000394178 -1 known p.E365* 0.000 81 0% 30 33.3% 0 - - - - HMMSmart_CA,superfamily_Cadherin CDH8 1006 genome.wustl.edu 37 16 61854949 61854949 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001796.2 -1 reviewed p.D302Y 1.000 191 0% 113 33.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin CDH11 1009 genome.wustl.edu 37 16 65038644 65038644 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001797.2 -1 reviewed p.K43N 0.974 45 0% 36 16.7% 12 0% probably_damaging(0.991) tolerated(0.13) deleterious(0.697) NULL CDH5 1003 genome.wustl.edu 37 16 66424438 66424438 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001795.3 +1 reviewed p.A305V 1.000 112 0% 155 29.7% 9 0% benign(0.001) tolerated(0.49) neutral(0.011) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like TK2 7084 genome.wustl.edu 37 16 66545928 66545928 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004614.4 -1 reviewed p.L289 1.000 219 0% 446 30% 9 44.4% - - - HMMPfam_dNK CMTM2 146225 genome.wustl.edu 37 16 66621857 66621857 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144673.2 +1 reviewed p.I194 0.002 125 0% 201 33.8% 1 100% - - - HMMPfam_MARVEL CCDC79 283847 genome.wustl.edu 37 16 66793160 66793160 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001136505.1 -1 provisional p.R605Q 1.000 207 0% 393 32.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL CCDC79 283847 genome.wustl.edu 37 16 66801342 66801342 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001136505.1 -1 provisional p.E586K 0.973 142 0% 181 28.2% 0 - benign(0) tolerated(1) - NULL CDH16 1014 genome.wustl.edu 37 16 66948188 66948188 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004062.2 -1 reviewed p.T237 0.986 124 1.6% 174 10.3% 0 - - - - HMMSmart_SM00112 CES4A 283848 genome.wustl.edu 37 16 67029727 67029727 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173815.4 +1 validated p.P85 0.000 68 0% 107 34.6% 0 - - - - HMMPfam_COesterase,superfamily_SSF53474 C16orf70 80262 genome.wustl.edu 37 16 67154071 67154071 + Missense_Mutation SNP A A T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025187.3 +1 provisional p.N41Y 1.000 141 0% 353 36.3% 7 0% probably_damaging(0.97) tolerated(0.05) deleterious(0.758) HMMPfam_UPF0183 C16orf70 80262 genome.wustl.edu 37 16 67168322 67168322 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025187.3 +1 provisional p.R205* 1.000 150 0% 280 33.9% 7 28.5% - - - HMMPfam_UPF0183 C16orf70 80262 genome.wustl.edu 37 16 67178214 67178214 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025187.3 +1 provisional p.A299 0.676 129 0% 246 32.1% 8 37.5% - - - HMMPfam_UPF0183 B3GNT9 84752 genome.wustl.edu 37 16 67183690 67183690 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033309.2 -1 validated p.F233 0.419 16 0% 35 40% 2 0% - - - HMMPfam_Galactosyl_T HSF4 3299 genome.wustl.edu 37 16 67201447 67201447 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001040667.2 +1 reviewed p.E267* 0.993 75 0% 108 29.6% 4 50% - - - NULL NOL3 8996 genome.wustl.edu 37 16 67208825 67208825 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000445652 +1 known p.S196L 0.000 42 0% 62 22.6% 3 0% - - - NULL KIAA0895L 653319 genome.wustl.edu 37 16 67214049 67214049 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001040715.1 -1 validated p.F155L 1.000 150 0.7% 242 32.2% 4 25% possibly_damaging(0.942) deleterious(0) deleterious(0.832) NULL ELMO3 79767 genome.wustl.edu 37 16 67236848 67236848 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024712.3 +1 reviewed p.R592H 1.000 49 0% 45 35.6% 9 44.4% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF50729 KCTD19 146212 genome.wustl.edu 37 16 67327780 67327780 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001100915.1 -1 provisional p.A629T 1.000 156 0% 288 43.4% 0 - benign(0) deleterious(0.03) neutral(0.364) NULL KCTD19 146212 genome.wustl.edu 37 16 67335813 67335813 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001100915.1 -1 provisional p.R219H 1.000 114 0% 166 29.5% 0 - probably_damaging(0.999) tolerated(0.24) deleterious(0.528) superfamily_BTB/POZ_fold KCTD19 146212 genome.wustl.edu 37 16 67338337 67338337 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001100915.1 -1 provisional p.S146 1.000 148 0.7% 254 36.6% 0 - - - - NULL LRRC36 55282 genome.wustl.edu 37 16 67401050 67401050 + Missense_Mutation SNP A A T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018296.5 +1 validated p.K295N 0.002 138 0% 192 31.8% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL ZDHHC1 29800 genome.wustl.edu 37 16 67432744 67432744 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013304.2 -1 validated p.R212C 0.998 105 0% 147 29.9% 19 21% probably_damaging(1) deleterious(0) deleterious(0.945) NULL RLTPR 146206 genome.wustl.edu 37 16 67688120 67688120 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001013838.1 +1 provisional p.F1063L 1.000 40 0% 68 29.4% 0 - possibly_damaging(0.444) deleterious(0) deleterious(0.590) NULL TSNAXIP1 55815 genome.wustl.edu 37 16 67860617 67860617 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018430.2 +1 validated p.F421C 1.000 101 1% 214 33.2% 6 33.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL CENPT 80152 genome.wustl.edu 37 16 67866397 67866397 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025082.3 -1 validated p.Q54 0.958 81 0% 113 28.3% 16 56.2% - - - NULL PSMB10 5699 genome.wustl.edu 37 16 67970607 67970607 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002801.2 -1 reviewed p.N16D 0.998 21 0% 41 36.6% 17 5.8% benign(0.01) deleterious(0.02) neutral(0.384) superfamily_N-terminal nucleophile aminohydrolases (Ntn hydrolases) LCAT 3931 genome.wustl.edu 37 16 67976354 67976354 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000229.1 -1 reviewed p.Q220H 1.000 42 0% 76 30.3% 10 40% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_LACT,superfamily_alpha/beta-Hydrolases NFATC3 4775 genome.wustl.edu 37 16 68208402 68208402 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173165.1 +1 reviewed p.L634I 1.000 99 0% 153 26.8% 13 38.4% benign(0.001) tolerated(0.18) neutral(0.056) HMMPfam_TIG,HMMSmart_SM00429,superfamily_E set domains SMPD3 55512 genome.wustl.edu 37 16 68397678 68397678 + Splice_Site SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018667.3 -1 validated e4+2 1.000 52 1.9% 77 42.9% 0 - - - - - ZFP90 146198 genome.wustl.edu 37 16 68598492 68598492 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000327567 +1 known p.E74* 1.000 74 0% 119 39.5% 8 37.5% - - - NULL CDH1 999 genome.wustl.edu 37 16 68842325 68842325 + Splice_Site SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004360.3 +1 reviewed e4-2 0.965 127 0% 212 22.6% 0 - - - - - CDH1 999 genome.wustl.edu 37 16 68842735 68842735 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004360.3 +1 reviewed p.R224H 0.000 66 0% 131 32.1% 70 5.7% benign(0) tolerated(0.24) neutral(0.037) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like TMCO7 79613 genome.wustl.edu 37 16 68901033 68901033 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024562.1 +1 validated p.R302W 1.000 122 0% 270 39.3% 4 25% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL TMED6 146456 genome.wustl.edu 37 16 69377325 69377325 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144676.3 -1 validated p.K236N 0.044 191 0% 343 34.4% 0 - benign(0.086) tolerated(0.34) neutral(0.029) NULL NFAT5 10725 genome.wustl.edu 37 16 69689635 69689635 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138713.2 +1 reviewed p.E377* 1.000 101 0% 223 29.6% 1 0% - - - superfamily_p53-like transcription factors,HMMPfam_RHD NFAT5 10725 genome.wustl.edu 37 16 69726957 69726957 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138713.2 +1 reviewed p.N1077H 0.983 69 0% 111 37.8% 3 33.3% possibly_damaging(0.716) deleterious(0.01) deleterious(0.665) NULL NFAT5 10725 genome.wustl.edu 37 16 69727274 69727274 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138713.2 +1 reviewed p.P1182 1.000 111 0% 276 30.8% 2 0% - - - NULL NQO1 1728 genome.wustl.edu 37 16 69745102 69745102 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000903.2 -1 reviewed p.R201Q 0.997 144 0% 236 36% 508 52.7% probably_damaging(1) tolerated(0.29) deleterious(0.529) HMMPfam_Flavodoxin_2,superfamily_Flavoproteins NQO1 1728 genome.wustl.edu 37 16 69748892 69748892 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000903.2 -1 reviewed p.A131V 0.962 105 1% 276 24.3% 334 35.9% benign(0.01) tolerated(0.17) neutral(0.059) HMMPfam_Flavodoxin_2,superfamily_Flavoproteins WWP2 11060 genome.wustl.edu 37 16 69965095 69965095 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007014.3 +1 reviewed p.R496W 0.997 144 0.7% 293 32.4% 25 20% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_HECT WWP2 11060 genome.wustl.edu 37 16 69965465 69965465 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007014.3 +1 reviewed p.F525 1.000 47 0% 76 34.2% 21 19% - - - superfamily_HECT WWP2 11060 genome.wustl.edu 37 16 69973017 69973017 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007014.3 +1 reviewed p.E811K 1.000 119 0% 180 34.4% 39 46.1% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_HECT,HMMSmart_HECTc,superfamily_HECT ENSG00000205152 0 genome.wustl.edu 37 16 70263681 70263681 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000378955 -1 known p.L474I 1.000 192 0% 410 25.9% 1 0% - - - NULL ENSG00000205152 0 genome.wustl.edu 37 16 70265903 70265903 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000378955 -1 known p.W285C 1.000 48 0% 97 29.9% 3 100% - - - NULL ENSG00000205152 0 genome.wustl.edu 37 16 70266675 70266675 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000378955 -1 known p.S212Y 1.000 108 0% 152 23.7% 0 - - - - NULL DDX19A 55308 genome.wustl.edu 37 16 70405369 70405369 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018332.3 +1 provisional p.I426 0.939 160 0.6% 395 21.5% 51 25.4% - - - HMMPfam_Helicase_C,HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases SF3B3 23450 genome.wustl.edu 37 16 70562790 70562790 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012426.4 +1 reviewed p.E29* 1.000 86 0% 128 30.5% 20 20% - - - NULL SF3B3 23450 genome.wustl.edu 37 16 70572255 70572255 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012426.4 +1 reviewed p.M285I 1.000 183 0% 376 30.1% 31 16.1% benign(0.001) tolerated(0.47) neutral(0.011) NULL SF3B3 23450 genome.wustl.edu 37 16 70601317 70601317 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012426.4 +1 reviewed p.P944S 1.000 218 0% 472 29.2% 56 60.7% benign(0.019) tolerated(0.28) neutral(0.033) HMMPfam_CPSF_A VAC14 55697 genome.wustl.edu 37 16 70778447 70778447 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018052.3 -1 validated p.I469 0.975 42 0% 67 37.3% 50 44% - - - superfamily_ARM-type_fold HYDIN 54768 genome.wustl.edu 37 16 70894674 70894674 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032821.2 -1 validated p.R3969* 0.998 78 0% 82 34.1% 1 0% - - - NULL HYDIN 54768 genome.wustl.edu 37 16 70916674 70916674 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032821.2 -1 validated p.F3367L 1.000 361 0% 475 30.9% 0 - benign(0.007) deleterious(0) neutral(0.445) NULL HYDIN 54768 genome.wustl.edu 37 16 70929909 70929909 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032821.2 -1 validated p.I3040 0.167 191 0% 287 31% 0 - - - - NULL HYDIN 54768 genome.wustl.edu 37 16 70929913 70929913 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032821.2 -1 validated p.D3039G 1.000 198 0% 288 25.3% 0 - benign(0.063) deleterious(0) neutral(0.449) NULL HYDIN 54768 genome.wustl.edu 37 16 70942693 70942693 + Silent SNP G G A rs183164278 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032821.2 -1 validated p.F2691 0.001 437 0% 664 34.2% 0 - - - - NULL HYDIN 54768 genome.wustl.edu 37 16 71007841 71007841 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032821.2 -1 validated p.D1706G 1.000 322 0% 356 15.2% 1 0% possibly_damaging(0.85) tolerated(0.06) deleterious(0.649) NULL HYDIN 54768 genome.wustl.edu 37 16 71009051 71009051 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032821.2 -1 validated p.R1586H 0.004 306 0% 518 22% 1 0% benign(0.073) tolerated(0.1) neutral(0.291) NULL HYDIN 54768 genome.wustl.edu 37 16 71019106 71019106 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032821.2 -1 validated p.P1437 0.607 184 0% 169 28.4% 0 - - - - NULL HYDIN 54768 genome.wustl.edu 37 16 71094505 71094505 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032821.2 -1 validated p.Q811K 0.003 288 0% 419 25.1% 0 - benign(0.001) tolerated(0.73) neutral(0.002) NULL HYDIN 54768 genome.wustl.edu 37 16 71218818 71218818 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032821.2 -1 validated p.R71* 1.000 226 0% 164 32.3% 0 - - - - NULL FTSJD1 55783 genome.wustl.edu 37 16 71318705 71318705 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001099642.1 -1 validated p.E373 0.996 66 0% 72 47.2% 8 75% - - - NULL FTSJD1 55783 genome.wustl.edu 37 16 71319422 71319422 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001099642.1 -1 validated p.Q134H 1.000 74 0% 74 27% 8 37.5% benign(0.008) tolerated(0.05) neutral(0.345) HMMPfam_FtsJ,superfamily_S-adenosyl-L-methionine-dependent methyltransferases ZNF23 7571 genome.wustl.edu 37 16 71482693 71482693 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145911.1 -1 provisional p.R412I 1.000 149 0% 187 28.3% 9 55.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF19 7567 genome.wustl.edu 37 16 71509740 71509740 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006961.3 -1 reviewed p.R237I 1.000 186 0% 219 32% 2 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CHST4 10164 genome.wustl.edu 37 16 71571043 71571043 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005769.2 +1 reviewed p.L155M 0.077 103 0% 146 35.6% 0 - possibly_damaging(0.883) tolerated(0.2) neutral(0.394) HMMPfam_Sulfotransfer_1,superfamily_SSF52540 CHST4 10164 genome.wustl.edu 37 16 71571191 71571191 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005769.2 +1 reviewed p.V204A 0.998 117 0% 166 33.7% 1 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Sulfotransfer_1,superfamily_SSF52540 TAT 6898 genome.wustl.edu 37 16 71604653 71604653 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000353.2 -1 reviewed p.R281C 1.000 165 0% 291 37.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) PatternScan_AA_TRANSFER_CLASS_1,HMMPfam_Aminotran_1_2,superfamily_PLP-dependent transferases PHLPP2 23035 genome.wustl.edu 37 16 71683199 71683199 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015020.2 -1 validated p.S1189Y 0.035 60 0% 137 32.8% 0 - possibly_damaging(0.502) tolerated(0.06) deleterious(0.490) NULL PHLPP2 23035 genome.wustl.edu 37 16 71712839 71712839 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015020.2 -1 validated p.E363* 1.000 78 0% 149 30.9% 0 - - - - HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00364,superfamily_L domain-like AP1G1 164 genome.wustl.edu 37 16 71808373 71808373 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001030007.1 -1 reviewed p.K108N 1.000 137 0% 307 35.2% 13 76.9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Adaptin_N,superfamily_ARM repeat PKD1L3 342372 genome.wustl.edu 37 16 71977960 71977960 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000335106 -1 known p.L1276I 0.223 312 0% 732 28.7% 0 - - - - NULL DHX38 9785 genome.wustl.edu 37 16 72130894 72130894 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014003.3 +1 reviewed p.R166H 1.000 95 0% 193 34.7% 21 57.1% possibly_damaging(0.865) tolerated(0.1) deleterious(0.621) NULL DHX38 9785 genome.wustl.edu 37 16 72137075 72137075 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014003.3 +1 reviewed p.I534 1.000 108 0% 145 36.6% 42 38% - - - HMMSmart_DEXDc ZFHX3 463 genome.wustl.edu 37 16 72827575 72827575 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006885.3 -1 reviewed p.K3002N 1.000 177 0% 301 32.2% 7 28.5% probably_damaging(1) - - HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like ZFHX3 463 genome.wustl.edu 37 16 72828294 72828294 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006885.3 -1 reviewed p.D2763Y 1.000 60 0% 106 30.2% 6 33.3% probably_damaging(0.995) - - NULL ZFHX3 463 genome.wustl.edu 37 16 72828699 72828699 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006885.3 -1 reviewed p.E2628K 1.000 143 0% 261 32.6% 4 100% probably_damaging(0.99) - - NULL ZFHX3 463 genome.wustl.edu 37 16 72992553 72992553 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006885.3 -1 reviewed p.E498K 0.998 83 0% 143 31.5% 1 0% unknown(0) - - NULL ZFHX3 463 genome.wustl.edu 37 16 72992930 72992930 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006885.3 -1 reviewed p.R372Q 0.996 79 0% 92 32.6% 4 75% unknown(0) - - NULL GLG1 2734 genome.wustl.edu 37 16 74506453 74506453 + RNA SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NR_027264.1 -1 validated NULL 0.000 12 0% 15 60% 1 100% - - - - FA2H 79152 genome.wustl.edu 37 16 74750489 74750489 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024306.4 -1 reviewed p.F265 0.999 14 0% 48 33.3% 3 100% - - - HMMPfam_FA_hydroxylase ZFP1 162239 genome.wustl.edu 37 16 75203432 75203432 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153688.2 +1 validated p.L142I 0.099 71 0% 81 46.9% 1 0% benign(0.131) tolerated(0.31) neutral(0.038) superfamily_C2H2 and C2HC zinc fingers KARS 3735 genome.wustl.edu 37 16 75670405 75670405 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001130089.1 -1 reviewed p.I171 1.000 106 0% 173 25.4% 82 24.3% - - - HMMPfam_tRNA_anti,superfamily_Nucleic_acid_OB CNTNAP4 85445 genome.wustl.edu 37 16 76528924 76528924 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138994.3 +1 validated p.S660Y 0.162 267 0% 281 32.7% 0 - benign(0.296) deleterious(0.05) neutral(0.437) superfamily_Concanavalin A-like lectins/glucanases CNTNAP4 85445 genome.wustl.edu 37 16 76572217 76572217 + Missense_Mutation SNP C C A rs35153994 TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138994.3 +1 validated p.S994Y 0.999 129 0% 112 25.9% 0 - possibly_damaging(0.824) deleterious(0) deleterious(0.756) HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 CNTNAP4 85445 genome.wustl.edu 37 16 76592518 76592518 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138994.3 +1 validated p.L1216 1.000 196 0% 197 33% 1 100% - - - NULL MON1B 22879 genome.wustl.edu 37 16 77225398 77225398 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014940.2 +1 validated p.D6Y 0.995 40 0% 47 25.5% 12 16.6% probably_damaging(0.976) deleterious(0) deleterious(0.863) NULL VAT1L 57687 genome.wustl.edu 37 16 77822598 77822598 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020927.1 +1 provisional p.E7K 1.000 16 0% 30 53.3% 0 - benign(0.039) deleterious(0.03) neutral(0.366) NULL VAT1L 57687 genome.wustl.edu 37 16 77822800 77822800 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020927.1 +1 provisional p.R74H 1.000 59 0% 80 45% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_GroES_like,HMMPfam_ADH_N CLEC3A 10143 genome.wustl.edu 37 16 78064738 78064738 + Nonstop_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005752.3 +1 validated p.*198Y 0.001 64 0% 146 24.7% 0 - - - - NULL CENPN 55839 genome.wustl.edu 37 16 81051405 81051405 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001100625.1 +1 validated p.S107L 0.153 41 0% 45 26.7% 20 35% possibly_damaging(0.538) tolerated(0.31) neutral(0.209) HMMPfam_CHL4 C16orf46 123775 genome.wustl.edu 37 16 81087688 81087688 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001100873.1 -1 validated p.K385N 0.996 338 0.3% 659 29.3% 4 100% possibly_damaging(0.45) deleterious(0) deleterious(0.592) NULL C16orf46 123775 genome.wustl.edu 37 16 81095533 81095533 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152337.2 -1 validated p.S141G 0.000 54 0% 46 26.1% 2 50% benign(0.045) tolerated(0.36) neutral(0.022) NULL PKD1L2 114780 genome.wustl.edu 37 16 81164087 81164087 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_052892.3 -1 reviewed p.S2007N 0.001 63 0% 90 47.8% 0 - benign(0.253) deleterious(0.03) neutral(0.391) HMMPfam_PKD_channel PKD1L2 114780 genome.wustl.edu 37 16 81190489 81190489 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_052892.3 -1 reviewed p.R1367K 1.000 75 0% 153 25.5% 0 - probably_damaging(0.99) tolerated(0.33) neutral(0.466) NULL PKD1L2 114780 genome.wustl.edu 37 16 81190638 81190638 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_052892.3 -1 reviewed p.F1317L 1.000 48 0% 94 23.4% 0 - probably_damaging(0.975) tolerated(0.14) deleterious(0.666) HMMPfam_GPS,HMMSmart_SM00303 PKD1L2 114780 genome.wustl.edu 37 16 81219103 81219103 + Missense_Mutation SNP C C A rs114183450 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001076780.1 -1 reviewed p.R664L 0.059 43 0% 62 22.6% 0 - possibly_damaging(0.511) tolerated(0.16) neutral(0.231) NULL PKD1L2 114780 genome.wustl.edu 37 16 81232573 81232573 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001076780.1 -1 reviewed p.E413* 0.002 215 0% 414 25.6% 0 - - - - NULL PLCG2 5336 genome.wustl.edu 37 16 81819766 81819766 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002661.2 +1 validated p.A58T 0.978 45 0% 91 30.8% 1 0% possibly_damaging(0.527) tolerated(0.31) neutral(0.205) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 PLCG2 5336 genome.wustl.edu 37 16 81904466 81904466 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002661.2 +1 validated p.A192T 0.831 148 0% 238 34.5% 1 0% benign(0) tolerated(0.77) neutral(0.001) superfamily_SSF47473 PLCG2 5336 genome.wustl.edu 37 16 81942053 81942053 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002661.2 +1 validated p.E530 1.000 112 0% 207 31.4% 2 0% - - - HMMSmart_SH2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_SSF50729,superfamily_SSF55550 CDH13 1012 genome.wustl.edu 37 16 83711871 83711871 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001257.3 +1 reviewed p.D448G 1.000 116 0% 127 39.4% 5 0% probably_damaging(1) tolerated(0.16) deleterious(0.559) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin MLYCD 23417 genome.wustl.edu 37 16 83940607 83940607 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012213.2 +1 reviewed p.L182 1.000 222 0% 367 32.2% 6 66.6% - - - HMMPfam_MCD TAF1C 9013 genome.wustl.edu 37 16 84213901 84213901 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005679.2 -1 reviewed p.K479T 1.000 32 0% 53 28.3% 41 26.8% probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL ATP2C2 9914 genome.wustl.edu 37 16 84444324 84444324 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014861.2 +1 validated p.E156D 1.000 51 0% 99 44.4% 6 50% possibly_damaging(0.793) deleterious(0.04) deleterious(0.647) HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transmembrane domain M ATP2C2 9914 genome.wustl.edu 37 16 84473078 84473078 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014861.2 +1 validated p.A386V 1.000 257 0% 380 31.3% 15 33.3% possibly_damaging(0.796) tolerated(0.07) deleterious(0.618) HMMPfam_Hydrolase,superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N,superfamily_Calcium ATPase transmembrane domain M ATP2C2 9914 genome.wustl.edu 37 16 84485660 84485660 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014861.2 +1 validated p.M598I 1.000 117 0% 208 18.8% 20 25% possibly_damaging(0.662) deleterious(0) deleterious(0.678) HMMPfam_Hydrolase,superfamily_HAD-like,superfamily_Calcium ATPase transmembrane domain M KIAA1609 57707 genome.wustl.edu 37 16 84514195 84514195 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020947.3 -1 validated p.E399 0.977 83 0% 125 34.4% 8 50% - - - HMMPfam_TLD,HMMSmart_SM00584 CRISPLD2 83716 genome.wustl.edu 37 16 84872111 84872111 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031476.3 +1 validated p.V4I 0.005 79 0% 130 32.3% 2 0% benign(0.01) tolerated(0.49) neutral(0.011) NULL ZDHHC7 55625 genome.wustl.edu 37 16 85012814 85012814 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145548.1 -1 validated p.R210I 0.998 165 0% 266 32.7% 19 47.3% possibly_damaging(0.901) deleterious(0) deleterious(0.801) HMMPfam_zf-DHHC IRF8 3394 genome.wustl.edu 37 16 85936717 85936717 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002163.2 +1 reviewed p.E32D 1.000 165 0% 289 38.8% 4 0% benign(0.002) tolerated(0.08) neutral(0.300) HMMPfam_IRF,HMMSmart_IRF,PatternScan_IRF,superfamily_SSF46785 FOXF1 2294 genome.wustl.edu 37 16 86544554 86544554 + Missense_Mutation SNP G G C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001451.2 +1 reviewed p.A127P 1.000 38 0% 38 10.5% 0 - probably_damaging(0.975) deleterious(0.01) deleterious(0.823) HMMPfam_Fork_head,HMMSmart_FH,superfamily_SSF46785 MTHFSD 64779 genome.wustl.edu 37 16 86575392 86575392 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022764.2 -1 validated p.D197N 1.000 108 0% 132 34.8% 12 41.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_5-FTHF_cyc-lig,superfamily_SSF100950 FOXL1 2300 genome.wustl.edu 37 16 86613120 86613120 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005250.2 +1 validated p.D264G 1.000 22 0% 22 36.4% 0 - benign(0.355) deleterious(0.02) deleterious(0.495) NULL JPH3 57338 genome.wustl.edu 37 16 87678381 87678381 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020655.2 +1 reviewed p.F300 0.901 64 0% 94 19.1% 0 - - - - HMMPfam_MORN,HMMSmart_SM00698,superfamily_Histone H3 K4-specific methyltransferase SET7/9 N-terminal domain JPH3 57338 genome.wustl.edu 37 16 87717844 87717844 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020655.2 +1 reviewed p.F419L 1.000 66 0% 89 27% 0 - benign(0.038) tolerated(0.68) neutral(0.004) NULL KLHDC4 54758 genome.wustl.edu 37 16 87748147 87748147 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017566.3 -1 validated p.R264 1.000 122 0% 236 31.8% 28 42.8% - - - superfamily_Galactose oxidase central domain,HMMPfam_Kelch_2 SLC7A5 8140 genome.wustl.edu 37 16 87872373 87872373 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003486.5 -1 validated p.F330 1.000 87 0% 188 27.7% 83 62.6% - - - HMMPfam_AA_permease CA5A 763 genome.wustl.edu 37 16 87960427 87960427 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001739.1 -1 reviewed p.A89 0.000 68 0% 116 31% 0 - - - - HMMPfam_Carb_anhydrase,superfamily_Carbonic anhydrase ZNF469 84627 genome.wustl.edu 37 16 88497671 88497671 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001127464.1 +1 reviewed p.P1237S 0.000 27 0% 30 33.3% 0 - probably_damaging(0.999) - - NULL ZNF469 84627 genome.wustl.edu 37 16 88501562 88501562 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001127464.1 +1 reviewed p.L2534I 0.010 34 0% 39 48.7% 1 0% benign(0.224) deleterious(0) neutral(0.467) NULL ZNF469 84627 genome.wustl.edu 37 16 88501823 88501823 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001127464.1 +1 reviewed p.L2621I 0.009 42 0% 51 47.1% 4 0% benign(0.023) - - NULL ZC3H18 124245 genome.wustl.edu 37 16 88690383 88690383 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144604.3 +1 validated p.S604L 0.999 110 0% 274 28.8% 37 43.2% unknown(0) tolerated(0.28) - NULL SNAI3 333929 genome.wustl.edu 37 16 88747961 88747961 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178310.3 -1 validated p.L80M 0.058 23 0% 40 37.5% 0 - benign(0.013) tolerated(0.07) neutral(0.320) NULL PIEZO1 9780 genome.wustl.edu 37 16 88782175 88782175 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000327397 -1 known p.R324* 0.923 39 0% 43 32.6% 47 25.5% - - - NULL PIEZO1 9780 genome.wustl.edu 37 16 88792992 88792992 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000451779 -1 known p.L790 1.000 25 0% 25 20% 5 20% - - - NULL CDT1 81620 genome.wustl.edu 37 16 88871993 88871993 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030928.3 +1 validated p.E212K 1.000 20 0% 28 42.9% 72 50% probably_damaging(1) deleterious(0) deleterious(0.945) "HMMPfam_CDT1,superfamily_""Winged helix"" DNA-binding domain" CDT1 81620 genome.wustl.edu 37 16 88873788 88873788 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030928.3 +1 validated p.R459C 0.933 23 0% 29 27.6% 64 45.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL GALNS 2588 genome.wustl.edu 37 16 88901719 88901719 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000512.4 -1 reviewed p.K267R 0.998 88 0% 168 32.1% 25 44% benign(0) tolerated(0.49) neutral(0.011) HMMPfam_Sulfatase,superfamily_Alkaline_phosphatase_core GALNS 2588 genome.wustl.edu 37 16 88902661 88902661 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000512.4 -1 reviewed p.F194C 1.000 88 0% 149 41.6% 18 55.5% probably_damaging(0.994) tolerated(0.19) deleterious(0.502) HMMPfam_Sulfatase,superfamily_Alkaline_phosphatase_core SPG7 6687 genome.wustl.edu 37 16 89597196 89597196 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003119.2 +1 reviewed p.E323K 1.000 69 0% 135 34.8% 20 50% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases FANCA 2175 genome.wustl.edu 37 16 89857908 89857908 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000135.2 -1 reviewed p.S421N 0.992 37 0% 72 40.3% 9 77.7% probably_damaging(0.99) tolerated(0.32) neutral(0.466) NULL SPIRE2 84501 genome.wustl.edu 37 16 89922625 89922625 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032451.1 +1 validated p.G361 0.001 20 0% 34 17.6% 8 37.5% - - - NULL SPIRE2 84501 genome.wustl.edu 37 16 89936091 89936091 + Splice_Site SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032451.1 +1 validated e14+1 1.000 98 0% 237 36.7% 1 100% - - - - MC1R 4157 genome.wustl.edu 37 16 89985861 89985861 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002386.3 +1 reviewed p.K65N 1.000 33 0% 46 41.3% 17 47% probably_damaging(0.987) deleterious(0) deleterious(0.881) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like FAM157C 100132055 genome.wustl.edu 37 16 90171191 90171191 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_001714162.2 +1 model p.A167T 0.002 192 0% 252 35.7% 0 - - - - NULL DOC2B 8447 genome.wustl.edu 37 17 11957 11957 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000343572 -1 known p.L185I 1.000 514 0% 964 31.2% 0 - benign(0.049) tolerated(0.31) neutral(0.030) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB RPH3AL 9501 genome.wustl.edu 37 17 69432 69432 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006987.2 -1 provisional p.K237E 0.010 58 0% 85 34.1% 3 33.3% probably_damaging(0.995) deleterious(0.05) deleterious(0.803) HMMPfam_RPH3A_effector GEMIN4 50628 genome.wustl.edu 37 17 648796 648796 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015721.2 -1 reviewed p.S829 0.000 29 0% 39 17.9% 14 71.4% - - - NULL ABR 29 genome.wustl.edu 37 17 953368 953368 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021962.2 -1 reviewed p.E571D 1.000 294 0% 551 25.4% 28 17.8% possibly_damaging(0.778) deleterious(0.02) deleterious(0.674) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) TUSC5 286753 genome.wustl.edu 37 17 1201552 1201552 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_172367.2 +1 validated p.K176N 0.005 88 0% 120 31.7% 0 - possibly_damaging(0.819) deleterious(0.04) deleterious(0.658) NULL PRPF8 10594 genome.wustl.edu 37 17 1554824 1554824 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006445.3 -1 reviewed p.I2178 1.000 122 0% 237 31.2% 243 42.3% - - - HMMPfam_Mov34,HMMSmart_SM00232 PRPF8 10594 genome.wustl.edu 37 17 1576786 1576786 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006445.3 -1 reviewed p.F1174 0.989 104 0% 172 36.6% 53 43.3% - - - NULL TLCD2 727910 genome.wustl.edu 37 17 1611094 1611094 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000330676 -1 known p.S255R 0.002 91 0% 191 32.5% 1 0% benign(0) tolerated(1) - NULL WDR81 124997 genome.wustl.edu 37 17 1631034 1631034 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000409644 +1 known p.F927 0.512 39 0% 65 33.8% 11 45.4% - - - superfamily_WD40 repeat-like WDR81 124997 genome.wustl.edu 37 17 1640708 1640708 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000409644 +1 known p.T1852I 1.000 79 0% 123 34.1% 57 33.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 SERPINF1 5176 genome.wustl.edu 37 17 1673286 1673286 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002615.4 +1 validated p.T75 0.000 45 0% 68 32.4% 82 0% - - - HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins SMG6 23293 genome.wustl.edu 37 17 2076133 2076133 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017575.4 -1 validated p.S1059L 1.000 100 0% 177 35.6% 17 41.1% benign(0.002) tolerated(0.38) neutral(0.018) NULL SMG6 23293 genome.wustl.edu 37 17 2186977 2186977 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017575.4 -1 validated p.N797S 1.000 110 0% 149 35.6% 12 58.3% probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL SMG6 23293 genome.wustl.edu 37 17 2202843 2202843 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017575.4 -1 validated p.R402W 1.000 93 0% 161 39.8% 7 42.8% probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL TSR1 55720 genome.wustl.edu 37 17 2236908 2236908 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018128.4 -1 validated p.D362Y 1.000 214 0% 394 31.7% 21 19% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TSR1 55720 genome.wustl.edu 37 17 2237912 2237912 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018128.4 -1 validated p.R279* 1.000 79 0% 197 33.5% 7 14.2% - - - HMMPfam_AARP2CN,HMMSmart_AARP2CN MNT 4335 genome.wustl.edu 37 17 2298206 2298206 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020310.2 -1 reviewed p.E206* 1.000 25 0% 57 22.8% 5 60% - - - NULL MNT 4335 genome.wustl.edu 37 17 2298723 2298723 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020310.2 -1 reviewed p.E33D 1.000 23 0% 30 30% 5 80% possibly_damaging(0.892) tolerated(0.12) deleterious(0.612) NULL METTL16 79066 genome.wustl.edu 37 17 2324182 2324182 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024086.3 -1 validated p.R302Q 1.000 192 0% 343 30% 9 44.4% possibly_damaging(0.673) tolerated(0.1) deleterious(0.525) NULL RAP1GAP2 23108 genome.wustl.edu 37 17 2923804 2923804 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015085.4 +1 reviewed p.S556P 1.000 37 0% 34 47.1% 3 33.3% possibly_damaging(0.666) tolerated(0.24) neutral(0.273) NULL OR1E2 8388 genome.wustl.edu 37 17 3337122 3337122 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003554.1 -1 provisional p.N5T 0.916 131 0% 227 37% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF81321 SPATA22 84690 genome.wustl.edu 37 17 3349846 3349846 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032598.4 -1 validated p.R241I 1.000 211 0% 161 28% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL SPATA22 84690 genome.wustl.edu 37 17 3352141 3352141 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032598.4 -1 validated p.K211T 0.844 146 0% 185 34.6% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL CTNS 1497 genome.wustl.edu 37 17 3552187 3552187 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001031681.2 +1 reviewed p.R63C 0.010 131 0% 323 30.7% 11 54.5% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL ITGAE 3682 genome.wustl.edu 37 17 3649140 3649140 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002208.4 -1 reviewed p.R746I 0.000 60 0% 167 36.5% 0 - possibly_damaging(0.929) deleterious(0.01) deleterious(0.782) HMMPfam_Integrin_alpha2,superfamily_SSF69179 ATP2A3 489 genome.wustl.edu 37 17 3856696 3856696 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_174953.1 -1 reviewed p.E55G 1.000 25 0% 39 38.5% 1 0% probably_damaging(0.999) tolerated(0.05) deleterious(0.836) HMMPfam_Cation_ATPase_N,superfamily_Calcium ATPase transmembrane domain M ZZEF1 23140 genome.wustl.edu 37 17 3921172 3921172 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015113.3 -1 validated p.S2533 0.005 134 0% 192 29.7% 11 27.2% - - - NULL ZZEF1 23140 genome.wustl.edu 37 17 3968118 3968118 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015113.3 -1 validated p.E1419* 0.985 11 0% 16 31.2% 5 40% - - - NULL ANKFY1 51479 genome.wustl.edu 37 17 4098375 4098375 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016376.3 -1 validated p.E424K 1.000 68 0% 114 26.3% 6 50% benign(0.418) tolerated(0.14) neutral(0.385) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK ANKFY1 51479 genome.wustl.edu 37 17 4100730 4100730 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016376.3 -1 validated p.A347 0.567 71 0% 142 36.6% 4 25% - - - HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK SPNS3 201305 genome.wustl.edu 37 17 4337308 4337308 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182538.4 +1 validated p.G16C 0.005 16 0% 18 44.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_MFS general substrate transporter SPNS2 124976 genome.wustl.edu 37 17 4435864 4435864 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001124758.1 +1 provisional p.G274* 1.000 56 0% 97 29.9% 11 27.2% - - - HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter SPNS2 124976 genome.wustl.edu 37 17 4436551 4436551 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001124758.1 +1 provisional p.A368T 1.000 27 0% 50 34% 17 52.9% benign(0.11) tolerated(0.25) neutral(0.045) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter MYBBP1A 10514 genome.wustl.edu 37 17 4458506 4458506 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001105538.1 -1 validated p.F38L 1.000 20 0% 35 37.1% 14 50% benign(0.154) tolerated(0.38) neutral(0.031) superfamily_ARM-type_fold ALOX15 246 genome.wustl.edu 37 17 4536718 4536718 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001140.3 -1 validated p.I413M 0.120 76 0% 191 34% 0 - benign(0.282) deleterious(0.01) deleterious(0.492) HMMPfam_Lipoxygenase,superfamily_Lipoxygenase PELP1 27043 genome.wustl.edu 37 17 4578663 4578663 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000301396 -1 known p.L499I 0.002 66 0% 136 28.7% 1 100% unknown(0) tolerated(0.54) - NULL CXCL16 58191 genome.wustl.edu 37 17 4638734 4638734 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001100812.1 -1 validated p.S143Y 0.000 77 0% 146 37.7% 20 0% possibly_damaging(0.928) deleterious(0.01) deleterious(0.781) NULL PSMB6 5694 genome.wustl.edu 37 17 4701345 4701345 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002798.1 +1 reviewed p.S158 1.000 50 0% 112 34.8% 433 37.6% - - - HMMPfam_Proteasome,superfamily_N-terminal nucleophile aminohydrolases (Ntn hydrolases) PLD2 5338 genome.wustl.edu 37 17 4720043 4720043 + Splice_Site SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002663.3 +1 validated e14+2 0.999 65 0% 137 24.8% 0 - - - - - GP1BA 2811 genome.wustl.edu 37 17 4836815 4836815 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000173.5 +1 reviewed p.R306C 0.000 71 0% 152 44.1% 0 - benign(0.431) deleterious(0.04) deleterious(0.489) NULL GP1BA 2811 genome.wustl.edu 37 17 4837794 4837794 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000173.5 +1 reviewed p.S619N 1.000 34 0% 62 32.3% 0 - probably_damaging(0.987) deleterious(0) deleterious(0.881) NULL ENO3 2027 genome.wustl.edu 37 17 4857102 4857102 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001976.3 +1 reviewed p.D136Y 1.000 108 0% 154 33.8% 7 85.7% possibly_damaging(0.894) deleterious(0) deleterious(0.796) superfamily_Enolase N-terminal domain-like CAMTA2 23125 genome.wustl.edu 37 17 4876114 4876114 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015099.3 -1 validated p.S818L 0.910 85 0% 130 41.5% 24 45.8% benign(0.079) tolerated(0.1) neutral(0.292) superfamily_Ankyrin repeat ZFP3 124961 genome.wustl.edu 37 17 4995353 4995353 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153018.2 +1 validated p.R185Q 0.144 129 0% 252 28.2% 0 - probably_damaging(0.987) tolerated(0.28) neutral(0.468) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZFP3 124961 genome.wustl.edu 37 17 4995493 4995493 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153018.2 +1 validated p.K232E 0.896 132 0% 200 35% 2 50% probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZFP3 124961 genome.wustl.edu 37 17 4996280 4996280 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153018.2 +1 validated p.R494Q 0.966 65 0% 126 23.8% 1 100% probably_damaging(0.997) tolerated(0.81) neutral(0.467) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF232 7775 genome.wustl.edu 37 17 5012845 5012845 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014519.2 -1 validated p.T114 0.987 142 0% 218 36.7% 7 57.1% - - - HMMPfam_SCAN,HMMSmart_SM00431 USP6 9098 genome.wustl.edu 37 17 5064875 5064875 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004505.2 +1 validated p.D961Y 1.000 245 0% 365 28.2% 1 0% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_UCH,superfamily_Cysteine proteinases USP6 9098 genome.wustl.edu 37 17 5071323 5071323 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004505.2 +1 validated p.E1045* 1.000 148 0% 247 32.4% 1 0% - - - HMMPfam_UCH,superfamily_Cysteine proteinases ZNF594 84622 genome.wustl.edu 37 17 5085853 5085853 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032530.1 -1 validated p.A567S 0.006 213 0% 343 36.2% 0 - possibly_damaging(0.477) tolerated(0.17) neutral(0.216) superfamily_SSF57667 ZNF594 84622 genome.wustl.edu 37 17 5086449 5086449 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032530.1 -1 validated p.R368I 0.447 234 0% 414 28.3% 0 - possibly_damaging(0.944) tolerated(0.08) deleterious(0.689) superfamily_SSF57667 RABEP1 9135 genome.wustl.edu 37 17 5212066 5212066 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004703.4 +1 validated p.E38* 1.000 81 0% 125 25.6% 0 - - - - NULL RABEP1 9135 genome.wustl.edu 37 17 5212080 5212080 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004703.4 +1 validated p.K42N 1.000 73 0% 131 28.2% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL RABEP1 9135 genome.wustl.edu 37 17 5238553 5238553 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004703.4 +1 validated p.E148* 1.000 84 0% 230 33% 13 0% - - - HMMPfam_Rabaptin RABEP1 9135 genome.wustl.edu 37 17 5276666 5276666 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004703.4 +1 validated p.D648Y 1.000 128 0% 334 32.3% 3 33.3% probably_damaging(0.969) deleterious(0) deleterious(0.856) HMMPfam_Rab5-bind NUP88 4927 genome.wustl.edu 37 17 5294966 5294966 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002532.3 -1 reviewed p.R467* 0.984 144 0% 266 34.2% 27 11.1% - - - HMMPfam_Nup88 DHX33 56919 genome.wustl.edu 37 17 5347819 5347819 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020162.2 -1 reviewed p.I610 0.000 102 0% 154 35.1% 10 40% - - - HMMPfam_DUF1605 DHX33 56919 genome.wustl.edu 37 17 5356919 5356919 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020162.2 -1 reviewed p.F459L 1.000 180 0% 365 38.4% 4 0% probably_damaging(0.993) deleterious(0.03) deleterious(0.815) superfamily_P-loop containing nucleoside triphosphate hydrolases NLRP1 22861 genome.wustl.edu 37 17 5463136 5463136 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033004.3 -1 reviewed p.P294S 0.000 285 0% 580 39.5% 2 50% benign(0) tolerated(1) - superfamily_P-loop containing nucleoside triphosphate hydrolases NLRP1 22861 genome.wustl.edu 37 17 5463253 5463253 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033004.3 -1 reviewed p.W255R 0.026 166 0% 276 37% 1 0% possibly_damaging(0.5) deleterious(0.04) deleterious(0.516) NULL KIAA0753 9851 genome.wustl.edu 37 17 6528142 6528142 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014804.2 -1 validated p.R253Q 0.045 168 0% 183 35.5% 3 33.3% probably_damaging(1) tolerated(0.08) deleterious(0.800) NULL TEKT1 83659 genome.wustl.edu 37 17 6718499 6718499 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_053285.1 -1 reviewed p.A204 0.000 201 0% 419 35.8% 0 - - - - HMMPfam_Tektin TEKT1 83659 genome.wustl.edu 37 17 6718595 6718595 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_053285.1 -1 reviewed p.E172D 0.997 201 0% 433 33.9% 0 - benign(0.026) deleterious(0.02) neutral(0.384) HMMPfam_Tektin CLEC10A 10462 genome.wustl.edu 37 17 6978436 6978436 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182906.2 -1 reviewed p.C296* 0.939 17 0% 20 35% 0 - - - - HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like,PatternScan_C_TYPE_LECTIN_1 CLEC10A 10462 genome.wustl.edu 37 17 6978686 6978686 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182906.2 -1 reviewed p.G259S 0.000 118 0% 172 32.6% 1 0% possibly_damaging(0.874) tolerated(0.45) neutral(0.352) HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like ASGR2 433 genome.wustl.edu 37 17 7011180 7011180 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001181.3 -1 reviewed p.E133D 0.646 113 0% 178 30.3% 0 - possibly_damaging(0.786) tolerated(0.14) deleterious(0.544) HMMPfam_Lectin_N DVL2 1856 genome.wustl.edu 37 17 7130748 7130748 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004422.2 -1 reviewed p.K446N 1.000 51 0% 102 36.3% 52 42.3% probably_damaging(1) deleterious(0) deleterious(0.945) "HMMPfam_DEP,HMMSmart_SM00049,superfamily_""Winged helix"" DNA-binding domain" SLC2A4 6517 genome.wustl.edu 37 17 7189784 7189784 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001042.2 +1 reviewed p.L456F 1.000 211 0% 458 37.8% 0 - benign(0.003) tolerated(0.47) neutral(0.011) HMMPfam_Sugar_tr,superfamily_MFS_gen_substrate_transporter TMEM95 339168 genome.wustl.edu 37 17 7259722 7259722 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198154.1 +1 provisional p.L149I 1.000 114 0% 204 37.7% 0 - possibly_damaging(0.722) - - NULL TNK1 8711 genome.wustl.edu 37 17 7290716 7290716 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003985.3 +1 validated p.L473I 0.006 46 0% 107 20.6% 16 37.5% possibly_damaging(0.556) tolerated(0.33) neutral(0.213) NULL PLSCR3 57048 genome.wustl.edu 37 17 7296251 7296251 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000380658 -1 known p.Q175R 0.730 155 0% 351 29.6% 60 21.6% unknown(0) - - NULL NLGN2 57555 genome.wustl.edu 37 17 7317811 7317811 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020795.2 +1 reviewed p.L219 1.000 65 0% 73 28.8% 14 21.4% - - - HMMPfam_COesterase,superfamily_SSF53474 SPEM1 374768 genome.wustl.edu 37 17 7324201 7324201 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_199339.2 +1 provisional p.E69D 0.181 136 0% 298 30.9% 0 - possibly_damaging(0.568) deleterious(0) deleterious(0.639) NULL C17orf74 201243 genome.wustl.edu 37 17 7330705 7330705 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_175734.4 +1 validated p.E465 1.000 28 0% 34 47.1% 0 - - - - NULL FGF11 2256 genome.wustl.edu 37 17 7344850 7344850 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004112.2 +1 reviewed p.A85V 1.000 94 0% 160 38.1% 2 50% benign(0.001) deleterious(0.04) neutral(0.349) HMMPfam_FGF,HMMSmart_FGF,superfamily_Cytok_IL1_like ATP1B2 482 genome.wustl.edu 37 17 7557429 7557429 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001678.3 +1 reviewed p.E136K 1.000 78 0% 155 32.9% 0 - benign(0.054) tolerated(0.91) neutral(0.004) HMMPfam_Na_K-ATPase WRAP53 55135 genome.wustl.edu 37 17 7592917 7592917 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018081.2 +1 validated p.D180 0.996 130 0% 243 38.3% 17 29.4% - - - HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 DNAH2 146754 genome.wustl.edu 37 17 7673895 7673895 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020877.2 +1 validated p.K1373N 1.000 99 0% 226 27.9% 0 - benign(0.003) tolerated(0.47) neutral(0.011) HMMPfam_DHC_N2 DNAH2 146754 genome.wustl.edu 37 17 7691458 7691458 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020877.2 +1 validated p.A2266T 0.640 66 0% 103 22.3% 0 - benign(0) tolerated(0.32) neutral(0.024) superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH2 146754 genome.wustl.edu 37 17 7707784 7707784 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020877.2 +1 validated p.K3061N 1.000 72 0% 153 32.7% 0 - possibly_damaging(0.858) deleterious(0.01) deleterious(0.737) NULL DNAH2 146754 genome.wustl.edu 37 17 7720881 7720881 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020877.2 +1 validated p.I3341 0.602 81 0% 115 27% 0 - - - - NULL DNAH2 146754 genome.wustl.edu 37 17 7721275 7721275 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020877.2 +1 validated p.I3416 0.998 101 0% 167 35.9% 0 - - - - NULL KDM6B 23135 genome.wustl.edu 37 17 7754402 7754402 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080424.1 +1 provisional p.R1246H 0.999 47 0% 64 39.1% 70 51.4% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CHD3 1107 genome.wustl.edu 37 17 7814819 7814819 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000439235 +1 known p.E317K 1.000 65 0% 104 24% 142 31.6% unknown(0) - - NULL TRAPPC1 58485 genome.wustl.edu 37 17 7834048 7834048 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021210.4 -1 reviewed p.Y105C 0.995 50 0% 100 31% 377 42.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sybindin,superfamily_SNARE-like GUCY2D 3000 genome.wustl.edu 37 17 7918818 7918818 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000180.3 +1 reviewed p.S981L 1.000 12 0% 25 28% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Guanylate_cyc,HMMSmart_CYCc,superfamily_A/G_cyclase GUCY2D 3000 genome.wustl.edu 37 17 7919283 7919283 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000180.3 +1 reviewed p.L1028I 1.000 33 0% 27 40.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Guanylate_cyc,HMMSmart_CYCc,superfamily_A/G_cyclase ENSG00000214999 0 genome.wustl.edu 37 17 7983675 7983675 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000399413 +1 known p.R119M 0.000 61 0% 93 26.9% 0 - unknown(0) - - NULL ALOXE3 59344 genome.wustl.edu 37 17 8006705 8006705 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021628.2 -1 reviewed p.E631G 1.000 219 0% 476 31.5% 0 - possibly_damaging(0.804) tolerated(0.06) deleterious(0.625) HMMPfam_Lipoxygenase,superfamily_Lipoxygenase ALOXE3 59344 genome.wustl.edu 37 17 8015445 8015445 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021628.2 -1 reviewed p.Q250 0.006 140 0% 266 33.1% 1 0% - - - superfamily_Lipoxygenase PER1 5187 genome.wustl.edu 37 17 8053788 8053788 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002616.2 -1 reviewed p.K79N 1.000 84 0% 210 29.5% 11 27.2% probably_damaging(0.996) deleterious(0.04) deleterious(0.810) NULL ARHGEF15 22899 genome.wustl.edu 37 17 8215490 8215490 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173728.2 +1 reviewed p.E45* 0.477 85 0% 157 40.1% 0 - - - - NULL NDEL1 81565 genome.wustl.edu 37 17 8363448 8363448 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030808.3 +1 reviewed p.R305Q 0.999 183 0% 351 29.1% 42 33.3% benign(0.001) tolerated(0.14) neutral(0.249) HMMPfam_NUDE_C MYH10 4628 genome.wustl.edu 37 17 8439126 8439126 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005964.1 -1 validated p.R567* 0.959 220 0% 276 31.2% 6 0% - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases SPDYE4 388333 genome.wustl.edu 37 17 8658847 8658847 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001128076.1 -1 provisional p.F159S 0.808 185 0% 375 35.2% 0 - benign(0.413) deleterious(0) deleterious(0.578) NULL SPDYE4 388333 genome.wustl.edu 37 17 8660628 8660628 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001128076.1 -1 provisional p.A98S 0.000 99 0% 114 33.3% 0 - benign(0.122) tolerated(0.57) neutral(0.016) NULL NTN1 9423 genome.wustl.edu 37 17 9142995 9142995 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004822.2 +1 reviewed p.D509Y 1.000 37 0% 50 24% 1 100% benign(0.409) deleterious(0.02) deleterious(0.515) superfamily_TIMP_like,HMMPfam_NTR,HMMSmart_C345C WDR16 146845 genome.wustl.edu 37 17 9545080 9545080 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145054.4 +1 validated p.E539* 1.000 144 0% 313 35.8% 0 - - - - HMMSmart_SM00320,superfamily_WD40 repeat-like DHRS7C 201140 genome.wustl.edu 37 17 9683185 9683185 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001105571.1 -1 validated p.K145N 1.000 125 0% 128 34.4% 0 - benign(0.004) tolerated(0.24) neutral(0.037) HMMPfam_adh_short,superfamily_NAD(P)-binding Rossmann-fold domains DHRS7C 201140 genome.wustl.edu 37 17 9694494 9694494 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001105571.1 -1 validated p.Q36H 1.000 96 0% 110 30% 0 - possibly_damaging(0.656) tolerated(0.1) deleterious(0.517) superfamily_NAD(P)-binding Rossmann-fold domains GLP2R 9340 genome.wustl.edu 37 17 9763388 9763388 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004246.1 +1 reviewed p.L299M 0.933 200 0% 249 38.2% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_7tm_2 MYH13 8735 genome.wustl.edu 37 17 10215244 10215244 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003802.2 -1 validated p.E1505D 1.000 73 0% 102 34.3% 0 - benign(0.096) deleterious(0.01) neutral(0.413) HMMPfam_Myosin_tail_1,superfamily_Prefoldin MYH13 8735 genome.wustl.edu 37 17 10224955 10224955 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003802.2 -1 validated p.S1002Y 1.000 443 0.2% 727 33.4% 0 - benign(0.296) tolerated(0.05) neutral(0.437) superfamily_Prefoldin MYH13 8735 genome.wustl.edu 37 17 10231355 10231355 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003802.2 -1 validated p.I840S 1.000 289 0% 476 30.9% 0 - benign(0.421) deleterious(0) deleterious(0.581) superfamily_P-loop containing nucleoside triphosphate hydrolases MYH13 8735 genome.wustl.edu 37 17 10248923 10248923 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003802.2 -1 validated p.S425L 0.991 190 0.5% 380 35.5% 0 - benign(0.211) deleterious(0) neutral(0.465) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYH13 8735 genome.wustl.edu 37 17 10267752 10267752 + Silent SNP G G A rs189377998 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003802.2 -1 validated p.F32 0.917 215 0% 268 32.8% 0 - - - - NULL MYH8 4626 genome.wustl.edu 37 17 10304066 10304066 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002472.2 -1 reviewed p.E1126K 1.000 108 0% 99 36.4% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Myosin_tail_1 MYH8 4626 genome.wustl.edu 37 17 10309589 10309589 + Splice_Site SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002472.2 -1 reviewed e18+2 1.000 202 0% 273 38.8% 0 - - - - - MYH4 4622 genome.wustl.edu 37 17 10348292 10348292 + Splice_Site SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017533.2 -1 validated e35+1 1.000 439 0% 462 33.5% 0 - - - - - MYH4 4622 genome.wustl.edu 37 17 10350412 10350412 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017533.2 -1 validated p.L1696R 1.000 248 0% 266 27.8% 0 - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMPfam_Myosin_tail_1 MYH4 4622 genome.wustl.edu 37 17 10351817 10351817 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017533.2 -1 validated p.E1518K 1.000 290 0% 238 39.5% 0 - probably_damaging(0.995) tolerated(0.08) deleterious(0.758) HMMPfam_Myosin_tail_1 MYH4 4622 genome.wustl.edu 37 17 10364235 10364235 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017533.2 -1 validated p.E382G 1.000 234 0% 223 35.9% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYH1 4619 genome.wustl.edu 37 17 10399439 10399439 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005963.3 -1 reviewed p.R1666L 1.000 275 0% 240 32.9% 0 - possibly_damaging(0.69) deleterious(0) deleterious(0.692) HMMPfam_Myosin_tail_1 MYH1 4619 genome.wustl.edu 37 17 10405138 10405138 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005963.3 -1 reviewed p.E1068* 1.000 377 0% 420 25% 0 - - - - NULL MYH1 4619 genome.wustl.edu 37 17 10409202 10409202 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005963.3 -1 reviewed p.G701C 1.000 200 0% 276 35.5% 0 - probably_damaging(0.968) deleterious(0) deleterious(0.855) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYH1 4619 genome.wustl.edu 37 17 10411899 10411899 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005963.3 -1 reviewed p.L560I 1.000 431 0% 419 30.8% 0 - possibly_damaging(0.847) deleterious(0.02) deleterious(0.708) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYH1 4619 genome.wustl.edu 37 17 10419253 10419253 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005963.3 -1 reviewed p.F165L 1.000 328 0% 296 31.8% 0 - possibly_damaging(0.687) deleterious(0.02) deleterious(0.629) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYH1 4619 genome.wustl.edu 37 17 10419884 10419884 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005963.3 -1 reviewed p.E26K 1.000 273 0% 273 37% 0 - probably_damaging(0.953) tolerated(0.24) neutral(0.434) NULL MYH2 4620 genome.wustl.edu 37 17 10426485 10426485 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001100112.1 -1 reviewed p.K1865N 1.000 204 0% 153 28.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_tail_1 MYH2 4620 genome.wustl.edu 37 17 10428199 10428199 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001100112.1 -1 reviewed p.D1616Y 1.000 450 0% 613 33.8% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Myosin_tail_1 MYH2 4620 genome.wustl.edu 37 17 10428769 10428769 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001100112.1 -1 reviewed p.Q1512H 1.000 204 0.5% 238 31.1% 0 - possibly_damaging(0.773) deleterious(0.02) deleterious(0.670) HMMPfam_Myosin_tail_1 MYH2 4620 genome.wustl.edu 37 17 10438420 10438420 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001100112.1 -1 reviewed p.S717N 1.000 121 0% 163 28.2% 0 - benign(0) tolerated(1) - HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYH2 4620 genome.wustl.edu 37 17 10440653 10440653 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001100112.1 -1 reviewed p.E598D 0.773 276 0% 312 32.4% 1 0% benign(0) tolerated(0.54) neutral(0.007) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYH3 4621 genome.wustl.edu 37 17 10533707 10533707 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002470.2 -1 reviewed p.K1785N 1.000 268 0% 278 28.8% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Myosin_tail_1 MYH3 4621 genome.wustl.edu 37 17 10535901 10535901 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002470.2 -1 reviewed p.K1616N 1.000 114 0% 181 32.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_tail_1 MYH3 4621 genome.wustl.edu 37 17 10538329 10538329 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002470.2 -1 reviewed p.A1395D 1.000 82 0% 190 31.1% 0 - probably_damaging(0.999) tolerated(0.13) deleterious(0.743) HMMPfam_Myosin_tail_1 MYH3 4621 genome.wustl.edu 37 17 10542460 10542460 + Missense_Mutation SNP T T A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002470.2 -1 reviewed p.E1050V 1.000 248 0% 401 31.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL MYH3 4621 genome.wustl.edu 37 17 10543681 10543681 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002470.2 -1 reviewed p.R799C 1.000 224 0% 344 33.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_IQ,HMMSmart_IQ,superfamily_SSF52540 DNAH9 1770 genome.wustl.edu 37 17 11535949 11535949 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001372.3 +1 reviewed p.L522I 1.000 203 0.5% 258 32.9% 0 - benign(0.076) deleterious(0.03) neutral(0.370) HMMPfam_DHC_N1 DNAH9 1770 genome.wustl.edu 37 17 11568151 11568151 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001372.3 +1 reviewed p.E866G 1.000 248 0% 294 33.3% 0 - benign(0) tolerated(0.1) neutral(0.286) NULL DNAH9 1770 genome.wustl.edu 37 17 11583249 11583249 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001372.3 +1 reviewed p.K1177E 1.000 133 0% 164 31.1% 0 - benign(0.004) tolerated(0.15) neutral(0.241) superfamily_Spectrin repeat DNAH9 1770 genome.wustl.edu 37 17 11584051 11584051 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001372.3 +1 reviewed p.E1196D 1.000 69 0% 83 45.8% 0 - benign(0.076) tolerated(0.31) neutral(0.033) superfamily_Spectrin repeat DNAH9 1770 genome.wustl.edu 37 17 11584174 11584174 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001372.3 +1 reviewed p.F1237L 1.000 83 0% 83 31.3% 0 - possibly_damaging(0.873) tolerated(0.1) deleterious(0.625) NULL DNAH9 1770 genome.wustl.edu 37 17 11607628 11607628 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001372.3 +1 reviewed p.V1754M 1.000 122 0% 165 22.4% 0 - probably_damaging(0.976) tolerated(0.05) deleterious(0.763) NULL DNAH9 1770 genome.wustl.edu 37 17 11696905 11696905 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001372.3 +1 reviewed p.R2716Q 1.000 299 0% 472 32% 0 - possibly_damaging(0.949) tolerated(0.11) deleterious(0.665) superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH9 1770 genome.wustl.edu 37 17 11696947 11696947 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001372.3 +1 reviewed p.K2730T 1.000 236 0% 358 34.9% 0 - possibly_damaging(0.704) tolerated(0.14) deleterious(0.503) superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH9 1770 genome.wustl.edu 37 17 11790275 11790275 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001372.3 +1 reviewed p.S3702Y 1.000 122 0% 152 30.3% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL DNAH9 1770 genome.wustl.edu 37 17 11833337 11833337 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001372.3 +1 reviewed p.S4011F 1.000 87 0% 120 38.3% 0 - probably_damaging(0.956) deleterious(0) deleterious(0.844) HMMPfam_Dynein_heavy ZNF18 7566 genome.wustl.edu 37 17 11881557 11881557 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144680.2 -1 provisional p.R456I 1.000 192 0% 257 30% 6 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF18 7566 genome.wustl.edu 37 17 11896025 11896025 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144680.2 -1 provisional p.R41H 0.994 62 0% 97 38.1% 2 50% probably_damaging(0.998) tolerated(0.5) deleterious(0.484) HMMPfam_SCAN,HMMSmart_SM00431 MYOCD 93649 genome.wustl.edu 37 17 12647610 12647610 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153604.2 +1 reviewed p.E276D 1.000 84 0% 185 32.4% 0 - probably_damaging(0.983) tolerated(0.42) neutral(0.443) NULL MYOCD 93649 genome.wustl.edu 37 17 12666548 12666548 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153604.2 +1 reviewed p.D802N 0.026 126 0% 227 35.7% 0 - benign(0.15) tolerated(0.37) neutral(0.032) NULL MYOCD 93649 genome.wustl.edu 37 17 12666895 12666895 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153604.2 +1 reviewed p.I917 0.891 62 0% 73 23.3% 0 - - - - NULL COX10 1352 genome.wustl.edu 37 17 13980289 13980289 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001303.3 +1 reviewed p.E139* 0.427 152 0% 217 34.1% 13 38.4% - - - NULL ENSG00000205325 0 genome.wustl.edu 37 17 14673563 14673563 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000379640 -1 known p.E101* 0.000 96 0% 118 29.7% 0 - - - - NULL ENSG00000251537 0 genome.wustl.edu 37 17 15510956 15510956 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000455584 -1 known p.R713H 0.017 325 0.3% 629 32% 0 - - - - superfamily_WD40 repeat-like,superfamily_F-box domain CDRT1 374286 genome.wustl.edu 37 17 15516070 15516070 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006382.3 -1 provisional p.V356A 0.000 182 0% 349 29.2% 1 0% unknown(0) tolerated(0.11) - superfamily_F-box domain ZNF286A 57335 genome.wustl.edu 37 17 15620506 15620506 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001130842.1 +1 validated p.G490R 1.000 271 0.4% 404 12.6% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF57667 ADORA2B 136 genome.wustl.edu 37 17 15878100 15878100 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000676.2 +1 reviewed p.D148G 0.066 160 0% 256 37.9% 0 - benign(0) tolerated(0.38) neutral(0.018) HMMPfam_7tm_1,superfamily_SSF81321 NCOR1 9611 genome.wustl.edu 37 17 15950311 15950311 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006311.2 -1 reviewed p.E2211D 1.000 190 0% 330 23% 32 46.8% probably_damaging(0.978) deleterious(0) deleterious(0.865) NULL ZNF287 57336 genome.wustl.edu 37 17 16455402 16455402 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020653.2 -1 validated p.F685S 0.999 287 0.3% 337 30.6% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF624 57547 genome.wustl.edu 37 17 16525703 16525703 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020787.2 -1 validated p.E833* 1.000 236 0% 315 32.7% 4 50% - - - superfamily_C2H2 and C2HC zinc fingers ZNF624 57547 genome.wustl.edu 37 17 16526070 16526070 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020787.2 -1 validated p.G710 0.999 201 0% 275 34.2% 2 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF624 57547 genome.wustl.edu 37 17 16526591 16526591 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020787.2 -1 validated p.F537L 0.976 138 0% 164 32.9% 1 0% probably_damaging(0.994) deleterious(0.01) deleterious(0.858) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CCDC144A 9720 genome.wustl.edu 37 17 16665751 16665751 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014695.1 +1 provisional p.S1264L 0.096 96 0% 78 20.5% 1 100% benign(0.202) tolerated(0.19) neutral(0.069) NULL KRT17P1 147228 genome.wustl.edu 37 17 16747036 16747036 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000399211 -1 known p.E206G 1.000 151 0% 202 22.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Prefoldin,HMMPfam_Filament TNFRSF13B 23495 genome.wustl.edu 37 17 16842890 16842890 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012452.2 -1 reviewed p.P285S 0.018 170 0% 243 34.2% 0 - probably_damaging(0.977) tolerated(0.5) neutral(0.429) NULL COPS3 8533 genome.wustl.edu 37 17 17174211 17174211 + Silent SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003653.2 -1 reviewed p.T99 0.918 99 0% 196 30.6% 39 41% - - - NULL TOM1L2 146691 genome.wustl.edu 37 17 17788063 17788063 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001082968.1 -1 validated p.R129Q 1.000 117 0% 146 35.6% 5 20% possibly_damaging(0.942) deleterious(0.03) deleterious(0.752) HMMPfam_VHS,superfamily_ENTH/VHS domain,HMMSmart_SM00288 ENSG00000249596 0 genome.wustl.edu 37 17 18028677 18028677 + RNA SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000503497 -1 novel NULL 0.000 37 0% 45 37.8% 0 - - - - - MYO15A 51168 genome.wustl.edu 37 17 18046141 18046141 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016239.3 +1 reviewed p.R1966Q 1.000 86 0% 151 35.8% 0 - possibly_damaging(0.791) - - HMMSmart_SM00015 MYO15A 51168 genome.wustl.edu 37 17 18061933 18061933 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016239.3 +1 reviewed p.D3022Y 1.000 71 0% 111 37.8% 0 - benign(0.001) tolerated(0.22) neutral(0.042) NULL MYO15A 51168 genome.wustl.edu 37 17 18075633 18075633 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000445289 +1 known p.S449L 0.001 63 0% 105 34.3% 0 - unknown(0) deleterious(0.03) - NULL LLGL1 3996 genome.wustl.edu 37 17 18144167 18144167 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004140.3 +1 reviewed p.A828T 1.000 21 0% 32 34.4% 32 40.6% benign(0.004) tolerated(0.23) neutral(0.042) NULL TOP3A 7156 genome.wustl.edu 37 17 18178243 18178243 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004618.3 -1 reviewed p.S960L 0.000 182 0% 273 36.6% 10 70% benign(0) tolerated(0.32) neutral(0.024) NULL SMCR8 140775 genome.wustl.edu 37 17 18220534 18220534 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144775.2 +1 validated p.T477 0.000 48 0% 155 34.8% 5 0% - - - NULL SMCR8 140775 genome.wustl.edu 37 17 18220736 18220736 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144775.2 +1 validated p.E545* 1.000 35 0% 87 32.2% 1 100% - - - NULL ZNF286B 729288 genome.wustl.edu 37 17 18565359 18565359 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145045.1 -1 validated p.R487I 1.000 318 0% 425 34.8% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF286B 729288 genome.wustl.edu 37 17 18565679 18565679 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145045.1 -1 validated p.E380D 1.000 252 0% 261 32.2% 3 0% - - - superfamily_C2H2 and C2HC zinc fingers FBXW10 10517 genome.wustl.edu 37 17 18675894 18675894 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031456.3 +1 validated p.P726T 0.249 94 0% 137 26.3% 0 - benign(0.111) tolerated(0.27) neutral(0.042) NULL ULK2 9706 genome.wustl.edu 37 17 19750160 19750160 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142610.1 -1 reviewed p.R120Q 1.000 101 0% 227 30.8% 6 16.6% probably_damaging(0.999) tolerated(0.07) deleterious(0.809) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase AKAP10 11216 genome.wustl.edu 37 17 19835222 19835222 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007202.2 -1 reviewed p.R513* 1.000 65 0% 83 24.1% 6 33.3% - - - NULL AKAP10 11216 genome.wustl.edu 37 17 19844206 19844206 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007202.2 -1 reviewed p.F393L 1.000 70 0% 80 35% 1 0% probably_damaging(0.979) deleterious(0.01) deleterious(0.828) HMMPfam_RGS,HMMSmart_SM00315,superfamily_Regulator of G-protein signaling RGS SPECC1 92521 genome.wustl.edu 37 17 20108530 20108530 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001033553.1 +1 validated p.E390K 1.000 95 0% 118 34.7% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SPECC1 92521 genome.wustl.edu 37 17 20135127 20135127 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001033553.1 +1 validated p.L710 0.601 124 0% 168 29.2% 13 0% - - - NULL CCDC144C 348254 genome.wustl.edu 37 17 20268552 20268552 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000425519 +1 known p.E671* 0.900 59 0% 97 32% 0 - - - - NULL CCDC144C 348254 genome.wustl.edu 37 17 20295801 20295801 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000425519 +1 known p.S1074L 0.008 63 0% 46 43.5% 0 - benign(0.195) tolerated(0.52) neutral(0.027) NULL USP22 23326 genome.wustl.edu 37 17 20914478 20914478 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015276.1 -1 validated p.T363 0.155 40 0% 50 18% 79 35.4% - - - HMMPfam_UCH,superfamily_Cysteine proteinases USP22 23326 genome.wustl.edu 37 17 20931877 20931877 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015276.1 -1 validated p.A94 0.379 86 0% 144 38.2% 61 47.5% - - - HMMPfam_zf-UBP KCNJ12 3768 genome.wustl.edu 37 17 21319337 21319337 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021012.4 +1 validated p.V228A 1.000 68 0% 83 13.3% 0 - probably_damaging(0.965) deleterious(0) deleterious(0.851) HMMPfam_IRK,superfamily_Ig_E-set WSB1 26118 genome.wustl.edu 37 17 25631877 25631877 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015626.8 +1 reviewed p.L184V 1.000 169 0.6% 290 36.6% 16 31.2% probably_damaging(0.968) deleterious(0.02) deleterious(0.793) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 WSB1 26118 genome.wustl.edu 37 17 25636075 25636075 + Missense_Mutation SNP T T G rs146317362 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000452005 +1 known p.L19V 0.252 87 0% 156 38.5% 12 25% - - - NULL LOC440419 440419 genome.wustl.edu 37 17 25755738 25755738 + RNA SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XR_040504.2 +1 model NULL 1.000 37 0% 30 20% 0 - - - - - KSR1 8844 genome.wustl.edu 37 17 25931722 25931722 + Missense_Mutation SNP A A G rs66597251 TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014238.1 +1 validated p.K413E 0.011 100 0% 174 32.8% 1 0% benign(0) tolerated(0.75) neutral(0.002) NULL NOS2 4843 genome.wustl.edu 37 17 26106044 26106044 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000625.4 -1 reviewed p.A348V 0.993 43 0% 52 38.5% 0 - possibly_damaging(0.715) deleterious(0.04) deleterious(0.608) HMMPfam_NO_synthase,superfamily_Nitric oxide (NO) synthase oxygenase domain ENSG00000251558 0 genome.wustl.edu 37 17 26207412 26207412 + RNA SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000502259 +1 known NULL 0.000 129 0% 179 36.9% 0 - - - - - TMEM199 147007 genome.wustl.edu 37 17 26684860 26684860 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152464.1 +1 provisional p.S56Y 0.630 54 0% 66 37.9% 30 50% probably_damaging(0.983) deleterious(0.04) deleterious(0.778) NULL SLC13A2 9058 genome.wustl.edu 37 17 26821450 26821450 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003984.3 +1 validated p.W410R 1.000 181 0% 362 32.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Na_sulph_symp FOXN1 8456 genome.wustl.edu 37 17 26851631 26851631 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003593.2 +1 reviewed p.V78 0.991 39 0% 40 30% 0 - - - - NULL FOXN1 8456 genome.wustl.edu 37 17 26851922 26851922 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003593.2 +1 reviewed p.F175L 0.992 39 0% 29 34.5% 0 - benign(0.156) deleterious(0.01) neutral(0.420) NULL FOXN1 8456 genome.wustl.edu 37 17 26864189 26864189 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003593.2 +1 reviewed p.L561R 1.000 58 0% 70 35.7% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL UNC119 9094 genome.wustl.edu 37 17 26874344 26874344 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005148.3 -1 reviewed p.A232S 1.000 102 0% 131 38.2% 28 28.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_GMP_PDE_delta,superfamily_E set domains SPAG5 10615 genome.wustl.edu 37 17 26919577 26919577 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006461.3 -1 reviewed p.R229C 0.000 112 0% 326 36.2% 13 46.1% benign(0.004) tolerated(0.09) neutral(0.296) NULL ENSG00000167524 0 genome.wustl.edu 37 17 26938801 26938801 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000301037 -1 known p.L236I 1.000 141 0% 253 28.9% 3 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ENSG00000167524 0 genome.wustl.edu 37 17 26939308 26939308 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000301037 -1 known p.L208 0.926 143 0% 216 33.3% 0 - - - - HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase SUPT6H 6830 genome.wustl.edu 37 17 27001323 27001323 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003170.3 +1 validated p.N44 1.000 115 0% 397 33.2% 19 36.8% - - - NULL TRAF4 9618 genome.wustl.edu 37 17 27076525 27076525 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004295.3 +1 reviewed p.R448L 1.000 73 0% 133 32.3% 198 44.4% probably_damaging(0.953) tolerated(0.09) deleterious(0.693) HMMPfam_MATH,superfamily_TRAF domain-like ERAL1 26284 genome.wustl.edu 37 17 27183628 27183628 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000412138 +1 known p.E78D 0.009 66 0% 132 36.4% 1 100% unknown(0) - - NULL PHF12 57649 genome.wustl.edu 37 17 27233929 27233929 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001033561.1 -1 validated p.E875D 1.000 184 0% 303 39.3% 30 36.6% benign(0.037) tolerated(0.76) neutral(0.003) NULL PHF12 57649 genome.wustl.edu 37 17 27238154 27238154 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001033561.1 -1 validated p.R731* 1.000 186 0% 377 34.7% 29 37.9% - - - NULL MYO18A 399687 genome.wustl.edu 37 17 27445426 27445426 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_078471.3 -1 validated p.N621S 1.000 137 0% 231 30.3% 4 0% possibly_damaging(0.825) tolerated(0.83) neutral(0.313) HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases ANKRD13B 124930 genome.wustl.edu 37 17 27936136 27936136 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152345.4 +1 validated p.D200N 1.000 26 0% 53 49.1% 4 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ANKRD13B 124930 genome.wustl.edu 37 17 27939427 27939427 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152345.4 +1 validated p.P422 0.998 102 0% 121 35.5% 5 40% - - - NULL EFCAB5 374786 genome.wustl.edu 37 17 28323336 28323336 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198529.3 +1 validated p.N311D 0.977 175 0% 196 30.6% 0 - possibly_damaging(0.922) tolerated(0.12) deleterious(0.632) superfamily_EF-hand NSRP1 84081 genome.wustl.edu 37 17 28512333 28512333 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032141.2 +1 validated p.R440* 0.787 128 0% 245 32.7% 8 25% - - - NULL SLC6A4 6532 genome.wustl.edu 37 17 28536192 28536192 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001045.4 -1 reviewed p.L506 0.004 58 0% 72 23.6% 0 - - - - HMMPfam_SNF SLC6A4 6532 genome.wustl.edu 37 17 28548954 28548954 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001045.4 -1 reviewed p.S8Y 1.000 51 0% 86 32.6% 0 - possibly_damaging(0.604) deleterious(0) deleterious(0.654) NULL SLC6A4 6532 genome.wustl.edu 37 17 28549090 28549090 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000394821 -1 known p.R5* 0.002 7 0.000 14 0.286 0 - - - - NULL BLMH 642 genome.wustl.edu 37 17 28618344 28618344 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000386.2 -1 reviewed p.N66D 1.000 76 0% 116 29.3% 10 40% possibly_damaging(0.845) tolerated(0.07) deleterious(0.643) HMMPfam_Peptidase_C1_2,superfamily_Cysteine proteinases GOSR1 9527 genome.wustl.edu 37 17 28817223 28817223 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004871.2 +1 reviewed p.R143Q 1.000 159 0% 292 29.8% 17 23.5% benign(0.41) tolerated(0.28) neutral(0.164) HMMPfam_V-SNARE ENSG00000247185 0 genome.wustl.edu 37 17 29096928 29096928 + RNA SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000499895 +1 known NULL 1.000 103 0% 232 35.8% 41 43.9% - - - - ATAD5 79915 genome.wustl.edu 37 17 29161609 29161609 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024857.3 +1 provisional p.E170D 0.955 26 0% 95 26.3% 0 - possibly_damaging(0.948) deleterious(0.01) deleterious(0.796) NULL ATAD5 79915 genome.wustl.edu 37 17 29187579 29187579 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024857.3 +1 provisional p.E1029* 0.791 62 0% 132 34.8% 0 - - - - NULL TEFM 79736 genome.wustl.edu 37 17 29226187 29226187 + Nonstop_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024683.3 -1 validated p.*361Y 0.253 64 0% 101 31.7% 12 33.3% - - - NULL TEFM 79736 genome.wustl.edu 37 17 29227543 29227543 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024683.3 -1 validated p.R178Q 0.764 105 0% 214 27.1% 15 20% benign(0.333) tolerated(0.63) neutral(0.108) superfamily_Ribonuclease H-like NF1 4763 genome.wustl.edu 37 17 29533315 29533315 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001042492.2 +1 reviewed p.R440* 1.000 394 0% 423 34% 2 0% - - - NULL OMG 4974 genome.wustl.edu 37 17 29622389 29622389 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002544.4 -1 validated p.D321Y 0.895 405 0.2% 785 33.8% 0 - possibly_damaging(0.855) deleterious(0.01) deleterious(0.736) NULL EVI2B 2124 genome.wustl.edu 37 17 29631342 29631342 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006495.3 -1 validated p.P429H 0.377 143 0% 219 36.5% 5 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL NF1 4763 genome.wustl.edu 37 17 29677227 29677227 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001042492.2 +1 reviewed p.R2450* 1.000 298 0% 323 35.6% 3 33.3% - - - NULL SUZ12 23512 genome.wustl.edu 37 17 30267332 30267332 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015355.2 +1 reviewed p.R101Q 1.000 200 0% 349 28.9% 10 30% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL SUZ12 23512 genome.wustl.edu 37 17 30293190 30293190 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015355.2 +1 reviewed p.T160 0.998 101 0% 102 25.5% 2 0% - - - NULL ZNF207 7756 genome.wustl.edu 37 17 30678920 30678920 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001098507.1 +1 validated p.H53N 1.000 161 0% 312 31.7% 68 38.2% probably_damaging(0.988) deleterious(0) deleterious(0.882) PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355 ZNF207 7756 genome.wustl.edu 37 17 30692413 30692413 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001098507.1 +1 validated p.A245 0.049 110 0% 117 32.5% 111 44.1% - - - NULL SPACA3 124912 genome.wustl.edu 37 17 31323880 31323880 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173847.3 +1 provisional p.F121L 0.010 104 0% 196 26% 0 - benign(0.221) tolerated(0.06) neutral(0.345) HMMPfam_Lys,HMMSmart_SM00263,superfamily_Lysozyme-like SPACA3 124912 genome.wustl.edu 37 17 31323985 31323985 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173847.3 +1 provisional p.P156 0.000 50 0% 104 33.7% 0 - - - - HMMPfam_Lys,HMMSmart_SM00263,superfamily_Lysozyme-like ENSG00000226049 0 genome.wustl.edu 37 17 32365486 32365486 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000430493 -1 known p.K411N 1.000 264 0% 452 39.4% 7 0% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase ENSG00000226049 0 genome.wustl.edu 37 17 32366710 32366710 + Missense_Mutation SNP C C T rs189847872 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000430493 -1 known p.R60Q 0.997 189 0% 278 38.5% 0 - - - - NULL CCL7 6354 genome.wustl.edu 37 17 32598198 32598198 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006273.2 +1 reviewed p.R37I 0.000 135 0% 120 19.2% 0 - unknown(0) - - PatternScan_SMALL_CYTOKINES_CC,HMMPfam_IL8,HMMSmart_SCY,superfamily_Chemokine_IL8 CCL8 6355 genome.wustl.edu 37 17 32647287 32647287 + Splice_Site SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005623.2 +1 reviewed e2-1 0.383 122 0% 146 28.1% 0 - - - - - TMEM132E 124842 genome.wustl.edu 37 17 32953315 32953315 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_207313.1 +1 provisional p.F79 1.000 30 0% 20 60% 0 - - - - NULL ZNF830 91603 genome.wustl.edu 37 17 33288718 33288718 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_052857.3 +1 validated p.Y45H 1.000 93 0% 156 30.1% 24 54.1% probably_damaging(1) deleterious(0) deleterious(0.945) NULL LIG3 3980 genome.wustl.edu 37 17 33324836 33324836 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013975.2 +1 reviewed p.R635* 1.000 129 0% 177 26% 13 7.6% - - - HMMPfam_DNA_ligase_A_M,superfamily_DNA ligase/mRNA capping enzyme catalytic domain FNDC8 54752 genome.wustl.edu 37 17 33454424 33454424 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017559.2 +1 validated p.N191K 0.979 35 0% 58 27.6% 0 - benign(0.224) deleterious(0.04) neutral(0.371) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like FNDC8 54752 genome.wustl.edu 37 17 33456542 33456542 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017559.2 +1 validated p.K229N 0.088 113 0% 155 29.7% 2 0% possibly_damaging(0.45) deleterious(0) deleterious(0.592) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like UNC45B 146862 genome.wustl.edu 37 17 33507617 33507617 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173167.2 +1 validated p.E767D 1.000 63 0% 101 35.6% 0 - probably_damaging(0.98) deleterious(0) deleterious(0.869) HMMSmart_SM00185,superfamily_ARM repeat SLFN5 162394 genome.wustl.edu 37 17 33588077 33588077 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144975.3 +1 validated p.S367L 0.001 175 0% 310 32.6% 6 66.6% benign(0) tolerated(0.84) neutral(0.001) NULL SLFN11 91607 genome.wustl.edu 37 17 33690004 33690004 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001104587.1 -1 validated p.E275* 0.007 298 0% 413 36.6% 2 0% - - - HMMPfam_AAA_4 SLFN13 146857 genome.wustl.edu 37 17 33772558 33772558 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144682.5 -1 validated p.R48W 0.000 239 0% 374 31.6% 9 77.7% probably_damaging(0.985) deleterious(0) deleterious(0.877) NULL SLFN12L 100506736 genome.wustl.edu 37 17 33806416 33806416 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145027.1 -1 validated p.E300 0.001 191 0% 271 30.6% 0 - - - - HMMPfam_AAA_4 SLFN12L 100506736 genome.wustl.edu 37 17 33806439 33806439 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145027.1 -1 validated p.E293* 0.000 194 0% 279 33.7% 0 - - - - HMMPfam_AAA_4 SLFN12L 100506736 genome.wustl.edu 37 17 33806960 33806960 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145027.1 -1 validated p.K119T 0.000 207 0% 282 32.3% 0 - probably_damaging(0.99) tolerated(0.23) deleterious(0.483) NULL SLFN14 342618 genome.wustl.edu 37 17 33875987 33875987 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001129820.1 -1 provisional p.K670N 0.103 220 0% 326 31.9% 0 - benign(0.075) deleterious(0.01) neutral(0.411) NULL SLFN14 342618 genome.wustl.edu 37 17 33876002 33876002 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001129820.1 -1 provisional p.E665D 1.000 206 0% 309 31.7% 0 - probably_damaging(0.955) deleterious(0.01) deleterious(0.804) NULL SLFN14 342618 genome.wustl.edu 37 17 33879908 33879908 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001129820.1 -1 provisional p.S582N 0.995 141 0% 154 35.7% 0 - benign(0.022) tolerated(0.86) neutral(0.002) NULL SLFN14 342618 genome.wustl.edu 37 17 33884482 33884482 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001129820.1 -1 provisional p.E200D 1.000 123 0% 197 27.4% 0 - probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL AP2B1 163 genome.wustl.edu 37 17 33966644 33966644 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001030006.1 +1 reviewed p.E434D 1.000 196 0% 335 29.6% 54 40.7% benign(0.013) tolerated(0.17) neutral(0.059) HMMPfam_Adaptin_N,superfamily_ARM repeat CCL15 6359 genome.wustl.edu 37 17 34328476 34328476 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032965.3 -1 reviewed p.S19Y 0.032 106 0% 160 26.3% 0 - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL CCL23 6368 genome.wustl.edu 37 17 34340787 34340787 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005064.3 -1 reviewed p.V100G 0.404 133 0% 184 35.9% 1 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) PatternScan_SMALL_CYTOKINES_CC,HMMPfam_IL8,HMMSmart_SM00199,superfamily_Interleukin 8-like chemokines CCL23 6368 genome.wustl.edu 37 17 34340893 34340893 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005064.3 -1 reviewed p.H65Y 0.000 151 0% 238 31.5% 0 - benign(0.013) deleterious(0.05) neutral(0.346) HMMPfam_IL8,superfamily_Interleukin 8-like chemokines CCL4 6351 genome.wustl.edu 37 17 34432656 34432656 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002984.2 +1 validated p.P77H 1.000 257 0.4% 407 29% 8 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_IL8,HMMSmart_SCY,superfamily_Chemokine_IL8 MYO19 80179 genome.wustl.edu 37 17 34863342 34863342 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000431794 -1 known p.A455T 0.071 109 0% 147 31.3% 12 41.6% benign(0.005) tolerated(0.13) neutral(0.253) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO19 80179 genome.wustl.edu 37 17 34869479 34869479 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025109.5 -1 validated p.S270 0.750 194 0% 262 30.2% 24 70.8% - - - HMMSmart_MYSc,superfamily_SSF52540 ACACA 31 genome.wustl.edu 37 17 35538156 35538156 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198834.1 -1 reviewed p.E1640* 1.000 251 0% 312 32.4% 7 0% - - - superfamily_SSF52096 ACACA 31 genome.wustl.edu 37 17 35548213 35548213 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198834.1 -1 reviewed p.A1474T 1.000 151 0% 183 32.2% 4 25% benign(0.189) tolerated(0.21) neutral(0.061) HMMPfam_ACC_central ACACA 31 genome.wustl.edu 37 17 35592008 35592008 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198834.1 -1 reviewed p.Y1043C 1.000 175 0% 275 26.9% 1 0% probably_damaging(0.993) tolerated(0.13) deleterious(0.703) HMMPfam_ACC_central ACACA 31 genome.wustl.edu 37 17 35597475 35597475 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198834.1 -1 reviewed p.R1013Q 1.000 87 0% 101 31.7% 3 0% probably_damaging(0.99) tolerated(0.38) neutral(0.459) HMMPfam_ACC_central MRPL45 84311 genome.wustl.edu 37 17 36454588 36454588 + Nonsense_Mutation SNP T T A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032351.3 +1 reviewed p.C80* 1.000 50 0% 114 32.5% 12 16.6% - - - NULL MRPL45 84311 genome.wustl.edu 37 17 36455428 36455428 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032351.3 +1 reviewed p.Q119P 0.996 131 0% 314 27.1% 20 25% probably_damaging(0.989) tolerated(0.2) deleterious(0.488) HMMPfam_Tim44 MRPL45 84311 genome.wustl.edu 37 17 36462518 36462518 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032351.3 +1 reviewed p.D127 0.941 66 0% 128 25% 11 0% - - - HMMPfam_Tim44 ARHGAP23 57636 genome.wustl.edu 37 17 36623053 36623053 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020876.1 +1 provisional p.R283W 1.000 10 0% 10 50% 1 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL ARHGAP23 57636 genome.wustl.edu 37 17 36646363 36646363 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020876.1 +1 provisional p.E909K 1.000 52 0% 88 21.6% 6 0% possibly_damaging(0.564) deleterious(0.03) deleterious(0.557) HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP PIP4K2B 8396 genome.wustl.edu 37 17 36926782 36926782 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003559.4 -1 reviewed p.K359N 1.000 117 0% 244 34.8% 14 28.5% benign(0.058) tolerated(0.16) neutral(0.063) HMMPfam_PIP5K,HMMSmart_SM00330,superfamily_SAICAR synthase-like SNORA21 619505 genome.wustl.edu 37 17 37009241 37009241 + RNA SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NR_002576.1 -1 provisional NULL 0.469 41 0% 138 33.3% 1 100% - - - - PLXDC1 57125 genome.wustl.edu 37 17 37226128 37226128 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020405.4 -1 validated p.A455D 0.958 109 0% 177 38.4% 21 0% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL STAC2 342667 genome.wustl.edu 37 17 37371256 37371256 + Silent SNP G G A rs35272507 byCluster TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198993.3 -1 validated p.T240 0.022 113 0% 231 32.5% 0 - - - - NULL STAC2 342667 genome.wustl.edu 37 17 37374361 37374361 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198993.3 -1 validated p.F52L 1.000 16 0% 28 28.6% 0 - probably_damaging(0.971) deleterious(0) deleterious(0.857) NULL MED1 5469 genome.wustl.edu 37 17 37566027 37566027 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004774.3 -1 reviewed p.S816Y 1.000 111 0% 205 39% 5 20% unknown(0) deleterious(0.01) - NULL CDK12 51755 genome.wustl.edu 37 17 37681030 37681030 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016507.2 +1 validated p.R1067* 1.000 106 0% 235 40% 10 10% - - - NULL MSL1 339287 genome.wustl.edu 37 17 38289294 38289294 + Splice_Site SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001012241.1 +1 validated e5-1 1.000 136 0% 354 39.5% 0 - - - - - CASC3 22794 genome.wustl.edu 37 17 38318329 38318329 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007359.4 +1 reviewed p.K177N 1.000 89 0% 231 35.5% 16 37.5% probably_damaging(0.98) deleterious(0.01) deleterious(0.830) HMMPfam_Btz TOP2A 7153 genome.wustl.edu 37 17 38548931 38548931 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001067.2 -1 reviewed p.K1290 1.000 270 0% 573 31.9% 29 79.3% - - - NULL TOP2A 7153 genome.wustl.edu 37 17 38567371 38567371 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001067.2 -1 reviewed p.F398C 1.000 225 0% 398 36.4% 10 10% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00433,HMMPfam_DNA_gyraseB,superfamily_Ribosomal protein S5 domain 2-like TOP2A 7153 genome.wustl.edu 37 17 38569539 38569539 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001067.2 -1 reviewed p.R162* 1.000 163 0% 298 35.2% 3 0% - - - HMMSmart_SM00433,HMMPfam_HATPase_c,superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase TNS4 84951 genome.wustl.edu 37 17 38635982 38635982 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032865.5 -1 validated p.T618 0.935 92 0% 157 35% 10 30% - - - HMMPfam_PTB,superfamily_SSF50729 KRT25 147183 genome.wustl.edu 37 17 38907464 38907464 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_181534.3 -1 reviewed p.L262I 0.191 164 0.6% 188 30.9% 0 - probably_damaging(1) tolerated(0.22) deleterious(0.542) HMMPfam_Filament KRT25 147183 genome.wustl.edu 37 17 38911420 38911420 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_181534.3 -1 reviewed p.S35Y 0.521 51 0% 70 31.4% 0 - benign(0.035) tolerated(0.14) neutral(0.252) NULL KRT27 342574 genome.wustl.edu 37 17 38935974 38935974 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_181537.3 -1 reviewed p.A275V 0.048 103 0% 140 40% 3 0% benign(0.006) tolerated(0.54) neutral(0.007) HMMPfam_Filament KRT23 25984 genome.wustl.edu 37 17 39086303 39086303 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015515.3 -1 reviewed p.V175 0.264 255 0% 374 37.7% 289 52.2% - - - HMMPfam_Filament KRTAP4-1 85285 genome.wustl.edu 37 17 39341101 39341101 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033060.2 -1 reviewed p.V2 1.000 61 0% 84 34.5% 0 - - - - HMMPfam_Keratin_B2 KRTAP9-9 81870 genome.wustl.edu 37 17 39411692 39411692 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030975.2 +1 reviewed p.W19R 0.944 222 0% 307 14% 0 - unknown(0) tolerated(0.36) - HMMPfam_Keratin_B2 KRT34 3885 genome.wustl.edu 37 17 39538244 39538244 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021013.3 -1 reviewed p.E127D 0.997 144 0% 133 31.6% 0 - benign(0.402) deleterious(0) deleterious(0.574) HMMPfam_Filament KRT31 3881 genome.wustl.edu 37 17 39551305 39551305 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002277.2 -1 reviewed p.N298D 0.993 203 0% 221 35.3% 2 50% benign(0) tolerated(0.35) neutral(0.021) HMMPfam_Filament KRT32 3882 genome.wustl.edu 37 17 39623218 39623218 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002278.3 -1 reviewed p.E120D 0.990 86 0% 98 25.5% 0 - benign(0.004) tolerated(0.48) neutral(0.011) HMMPfam_Filament KRT15 3866 genome.wustl.edu 37 17 39674619 39674619 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002275.3 -1 reviewed p.S154N 1.000 301 0% 526 36.1% 1 0% possibly_damaging(0.838) deleterious(0.02) deleterious(0.703) HMMPfam_Filament KRT9 3857 genome.wustl.edu 37 17 39726418 39726418 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000226.3 -1 reviewed p.R233C 0.602 218 0% 365 31% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Filament KRT9 3857 genome.wustl.edu 37 17 39728034 39728034 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000226.3 -1 reviewed p.Y71H 0.000 243 0% 322 37% 0 - unknown(0) deleterious(0.01) - NULL KRT14 3861 genome.wustl.edu 37 17 39741234 39741234 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000526.4 -1 reviewed p.R201C 0.997 146 0% 242 31.4% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Filament KRT14 3861 genome.wustl.edu 37 17 39742569 39742569 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000526.4 -1 reviewed p.R173M 0.974 220 0% 266 30.5% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Filament FKBP10 60681 genome.wustl.edu 37 17 39975644 39975644 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021939.3 +1 reviewed p.D304N 1.000 56 0% 89 31.5% 54 7.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_FKBP_C,superfamily_SSF54534 KLHL10 317719 genome.wustl.edu 37 17 40001482 40001482 + Silent SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152467.3 +1 validated p.L263 0.066 157 0% 459 31.4% 0 - - - - NULL KLHL10 317719 genome.wustl.edu 37 17 40004210 40004210 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152467.3 +1 validated p.R493Q 1.000 108 0% 204 29.4% 0 - probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_Kelch_1,HMMSmart_Kelch,superfamily_Gal_oxid_central ACLY 47 genome.wustl.edu 37 17 40063716 40063716 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001096.2 -1 reviewed p.F242 0.017 45 0% 93 35.5% 39 38.4% - - - NULL TTC25 83538 genome.wustl.edu 37 17 40113459 40113459 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000377543 +1 known p.E501D 0.013 73 0% 154 32.5% 0 - - - - NULL TTC25 83538 genome.wustl.edu 37 17 40117457 40117457 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000377543 +1 known p.E659* 0.001 81 0% 260 26.5% 4 75% - - - NULL ENSG00000247918 0 genome.wustl.edu 37 17 40119897 40119897 + RNA SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000499234 -1 novel NULL 0.010 10 0% 26 50% 0 - - - - - DNAJC7 7266 genome.wustl.edu 37 17 40140849 40140849 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003315.3 -1 reviewed p.K273 0.857 270 0% 474 11% 53 7.5% - - - HMMPfam_TPR_1,HMMSmart_TPR,superfamily_SSF48452 NKIRAS2 28511 genome.wustl.edu 37 17 40175761 40175761 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001001349.2 +1 validated p.E142D 1.000 105 0% 266 31.6% 60 46.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00173,HMMSmart_SM00175,superfamily_P-loop containing nucleoside triphosphate hydrolases KAT2A 2648 genome.wustl.edu 37 17 40270030 40270068 + Frame_Shift_Del DEL CTGAAGCTGAGGAGAGAGAGAGACGTCAGGGATGGGGGG CTGAAGCTGAGGAGAGAGAGAGACGTCAGGGATGGGGGG - novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 CTGAAGCTGAGGAGAGAGAGAGACGTCAGGGATGGGGGG CTGAAGCTGAGGAGAGAGAGAGACGTCAGGGATGGGGGG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021078.2 -1 validated p.A394fs 0.910:0.001:0.012:0.010:0.011:0.986 - - - - - - - - - NULL HSPB9 94086 genome.wustl.edu 37 17 40275208 40275208 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033194.2 +1 validated p.A114T 0.576 53 1.9% 98 30.6% 0 - possibly_damaging(0.668) deleterious(0.04) deleterious(0.585) superfamily_HSP20-like chaperones RAB5C 5878 genome.wustl.edu 37 17 40278791 40278791 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004583.2 -1 validated p.E173K 1.000 173 0% 339 28.6% 202 29.7% possibly_damaging(0.538) deleterious(0.03) deleterious(0.546) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases KCNH4 23415 genome.wustl.edu 37 17 40330207 40330207 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012285.2 -1 reviewed p.R166W 0.064 58 0% 107 29.9% 0 - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) NULL GHDC 84514 genome.wustl.edu 37 17 40342753 40342753 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032484.4 -1 validated p.R393* 0.988 64 0% 94 38.3% 17 5.8% - - - HMMPfam_GH3 STAT3 6774 genome.wustl.edu 37 17 40474378 40474378 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_139276.2 -1 reviewed p.P675S 1.000 163 0% 305 31.1% 65 41.5% probably_damaging(0.997) deleterious(0) deleterious(0.911) superfamily_SH2 domain STAT3 6774 genome.wustl.edu 37 17 40497666 40497666 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_139276.2 -1 reviewed p.L95F 0.990 86 0% 138 34.1% 19 36.8% probably_damaging(0.998) tolerated(0.14) deleterious(0.724) HMMPfam_STAT_int,superfamily_Transcription factor STAT-4 N-domain PTRF 284119 genome.wustl.edu 37 17 40557210 40557210 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012232.5 -1 reviewed p.R223H 1.000 67 0% 135 34.1% 65 1.5% probably_damaging(0.967) deleterious(0) deleterious(0.853) NULL NAGLU 4669 genome.wustl.edu 37 17 40690401 40690401 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000263.3 +1 reviewed p.F192L 1.000 60 0% 96 27.1% 10 20% benign(0.085) tolerated(0.11) neutral(0.278) HMMPfam_NAGLU NAGLU 4669 genome.wustl.edu 37 17 40693127 40693127 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000263.3 +1 reviewed p.I308 1.000 78 0% 139 32.4% 16 12.5% - - - HMMPfam_NAGLU COASY 80347 genome.wustl.edu 37 17 40714833 40714833 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001042532.2 +1 validated p.L94I 0.306 34 0% 56 42.9% 31 48.3% benign(0.265) tolerated(0.14) neutral(0.277) NULL CNTNAP1 8506 genome.wustl.edu 37 17 40839976 40839976 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003632.2 +1 reviewed p.R428Q 0.724 40 0% 56 33.9% 3 33.3% benign(0.315) tolerated(0.62) neutral(0.103) HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 CNTNAP1 8506 genome.wustl.edu 37 17 40841632 40841632 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003632.2 +1 reviewed p.E574D 1.000 50 0% 87 41.4% 3 33.3% benign(0.01) deleterious(0.01) neutral(0.406) superfamily_Fibrinogen_a/b/g_C,HMMPfam_EGF,HMMSmart_EGF,superfamily_ConA_like_lec_gl CNTNAP1 8506 genome.wustl.edu 37 17 40845526 40845526 + Silent SNP G G A rs182868996 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003632.2 +1 reviewed p.T988 0.011 91 0% 130 30% 2 0% - - - HMMPfam_EGF,superfamily_ConA_like_lec_gl LOC100288228 100288228 genome.wustl.edu 37 17 41024444 41024444 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002343520.1 -1 model p.S38 0.935 36 0% 29 51.7% 0 - - - - NULL LOC100288228 100288228 genome.wustl.edu 37 17 41024518 41024518 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002343520.1 -1 model p.R14W 0.963 29 0% 27 48.1% 1 100% - - - NULL BRCA1 672 genome.wustl.edu 37 17 41246166 41246166 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007294.3 -1 reviewed p.F461C 1.000 134 0% 182 33% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL DHX8 1659 genome.wustl.edu 37 17 41585388 41585388 + Splice_Site SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004941.1 +1 reviewed e15+1 1.000 60 0% 111 36% 1 100% - - - - C17orf105 284067 genome.wustl.edu 37 17 41857927 41857927 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001136483.1 +1 predicted p.V33I 0.001 113 0% 290 31% 0 - benign(0) tolerated(0.39) neutral(0.016) NULL MPP3 4356 genome.wustl.edu 37 17 41878964 41878964 + RNA SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NR_003562.1 -1 reviewed NULL 0.000 28 0% 72 33.3% 2 0% - - - - MPP2 4355 genome.wustl.edu 37 17 41958108 41958108 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005374.3 -1 reviewed p.K367N 1.000 103 0% 111 28.8% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00072,superfamily_P-loop containing nucleoside triphosphate hydrolases PPY 5539 genome.wustl.edu 37 17 42019013 42019013 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002722.3 -1 reviewed p.A4T 0.000 67 0% 103 30.1% 0 - unknown(0) tolerated(0.44) - NULL TMEM101 84336 genome.wustl.edu 37 17 42091872 42091872 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032376.2 -1 provisional p.F57 1.000 26 0% 51 19.6% 10 0% - - - NULL ATXN7L3 56970 genome.wustl.edu 37 17 42273432 42273432 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020218.1 -1 validated p.R172* 1.000 69 0% 164 29.9% 22 18.1% - - - NULL ATXN7L3 56970 genome.wustl.edu 37 17 42274378 42274378 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020218.1 -1 validated p.N125D 1.000 196 0% 323 23.5% 21 19% possibly_damaging(0.495) tolerated(0.41) neutral(0.180) NULL ITGA2B 3674 genome.wustl.edu 37 17 42455816 42455816 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000419.3 -1 reviewed p.N670D 1.000 47 0% 66 40.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Integrin_alpha2,superfamily_Integrin domains FZD2 2535 genome.wustl.edu 37 17 42635950 42635950 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001466.2 +1 reviewed p.F298 1.000 68 0% 95 43.2% 32 31.2% - - - HMMPfam_Frizzled C17orf104 284071 genome.wustl.edu 37 17 42745102 42745102 + Missense_Mutation SNP T T A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145080.2 +1 validated p.F608Y 1.000 35 0% 96 38.5% 0 - possibly_damaging(0.94) deleterious(0) deleterious(0.830) NULL C17orf104 284071 genome.wustl.edu 37 17 42750822 42750822 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000409122 +1 known p.S849Y 0.997 185 0% 359 36.2% 3 100% possibly_damaging(0.835) deleterious(0.03) deleterious(0.683) NULL GJC1 10052 genome.wustl.edu 37 17 42882571 42882571 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080383.1 -1 reviewed p.P205 0.985 148 0% 296 36.1% 3 0% - - - HMMPfam_Connexin_CCC GJC1 10052 genome.wustl.edu 37 17 42882757 42882757 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080383.1 -1 reviewed p.E143D 0.996 270 0% 487 34.1% 2 50% benign(0.035) tolerated(0.21) neutral(0.046) NULL GFAP 2670 genome.wustl.edu 37 17 42990720 42990720 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002055.3 -1 reviewed p.A233T 0.998 90 0% 94 38.3% 0 - benign(0.049) tolerated(0.07) neutral(0.322) HMMPfam_Filament C1QL1 10882 genome.wustl.edu 37 17 43037583 43037583 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006688.3 -1 provisional p.F250L 1.000 244 0% 375 33.6% 4 25% probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_C1q,HMMSmart_C1Q,superfamily_TNF_like PLCD3 113026 genome.wustl.edu 37 17 43197736 43197736 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000322765 -1 known p.V214I 1.000 226 0% 336 33.9% 6 50% benign(0) tolerated(0.72) neutral(0.002) superfamily_EF-hand PLEKHM1 9842 genome.wustl.edu 37 17 43552518 43552518 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014798.2 -1 reviewed p.D291Y 0.999 58 0% 143 21% 7 42.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PLEKHM1 9842 genome.wustl.edu 37 17 43552860 43552860 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014798.2 -1 reviewed p.E177K 0.277 68 0% 154 33.8% 11 18.1% possibly_damaging(0.643) deleterious(0.03) deleterious(0.590) HMMPfam_RUN,HMMSmart_RUN KANSL1 284058 genome.wustl.edu 37 17 44108914 44108914 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015443.2 -1 validated p.S1082 0.262 27 0% 26 38.5% 30 36.6% - - - NULL KANSL1 284058 genome.wustl.edu 37 17 44159811 44159811 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015443.2 -1 validated p.K510T 1.000 121 0% 107 32.7% 8 37.5% benign(0.006) tolerated(0.52) neutral(0.009) NULL KANSL1 284058 genome.wustl.edu 37 17 44248726 44248726 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015443.2 -1 validated p.K262Q 0.868 168 0% 276 21% 7 0% benign(0.293) tolerated(0.2) neutral(0.140) NULL LOC644253 644253 genome.wustl.edu 37 17 44321781 44321781 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_001719157.2 +1 model p.R214* 1.000 48 0% 123 18.7% 0 - - - - HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain ENSG00000249872 0 genome.wustl.edu 37 17 44628036 44628036 + RNA SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000510581 -1 novel NULL 0.052 164 0% 257 19.5% 1 0% - - - - NSF 4905 genome.wustl.edu 37 17 44806253 44806253 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006178.2 +1 validated p.L621I 1.000 339 0% 229 22.7% 12 41.6% benign(0) tolerated(0.3) neutral(0.029) HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases CDC27 996 genome.wustl.edu 37 17 45214611 45214611 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001114091.1 -1 reviewed p.L613S 0.999 121 0% 177 19.8% 8 75% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like CDC27 996 genome.wustl.edu 37 17 45219790 45219790 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001114091.1 -1 reviewed p.K401Q 1.000 43 0% 67 29.9% 5 40% probably_damaging(0.956) tolerated(0.52) neutral(0.408) superfamily_TPR-like CDC27 996 genome.wustl.edu 37 17 45221302 45221302 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001114091.1 -1 reviewed p.A379T 1.000 87 0% 141 39% 7 42.8% benign(0) tolerated(0.41) neutral(0.015) superfamily_TPR-like ITGB3 3690 genome.wustl.edu 37 17 45360794 45360794 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000212.2 +1 reviewed p.I80 0.869 100 0% 131 38.9% 1 100% - - - HMMPfam_Integrin_beta,HMMSmart_SM00187 ITGB3 3690 genome.wustl.edu 37 17 45361816 45361816 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000212.2 +1 reviewed p.S123 0.818 79 0% 121 33.1% 0 - - - - HMMPfam_Integrin_beta,HMMSmart_SM00187,superfamily_Integrin domains ITGB3 3690 genome.wustl.edu 37 17 45367136 45367136 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000212.2 +1 reviewed p.L343 0.995 145 0% 202 36.1% 0 - - - - HMMPfam_Integrin_beta,HMMSmart_SM00187,superfamily_vWA-like,superfamily_Integrin domains ITGB3 3690 genome.wustl.edu 37 17 45368426 45368426 + Missense_Mutation SNP C C A rs78121013 TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000212.2 +1 reviewed p.S411Y 1.000 132 0% 186 32.8% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Integrin_beta,HMMSmart_SM00187,superfamily_Integrin domains C17orf57 124989 genome.wustl.edu 37 17 45473226 45473226 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152347.3 +1 provisional p.D610N 0.002 228 0% 366 30.1% 1 0% possibly_damaging(0.632) tolerated(0.57) neutral(0.227) superfamily_EF-hand LRRC46 90506 genome.wustl.edu 37 17 45913080 45913080 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033413.3 +1 validated p.L107 0.000 73 0% 120 36.7% 2 50% - - - HMMPfam_LRR_1,HMMSmart_SM00365,superfamily_Outer arm dynein light chain 1 SP6 80320 genome.wustl.edu 37 17 45924860 45924860 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_199262.2 -1 validated p.K312N 1.000 27 0% 20 45% 6 66.6% probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_C2H2 and C2HC zinc fingers PNPO 55163 genome.wustl.edu 37 17 46023710 46023710 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018129.3 +1 reviewed p.E190* 1.000 119 0% 232 30.6% 10 40% - - - superfamily_FMN_binding SNX11 29916 genome.wustl.edu 37 17 46189967 46189967 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013323.2 +1 reviewed p.R25Q 0.999 110 0% 248 32.7% 8 50% probably_damaging(0.976) tolerated(0.2) neutral(0.467) HMMPfam_PX,HMMSmart_PX,superfamily_PX SNF8 11267 genome.wustl.edu 37 17 47018398 47018398 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007241.2 -1 provisional p.K44N 1.000 73 0% 152 34.2% 101 45.5% benign(0.007) deleterious(0) neutral(0.445) "HMMPfam_EAP30,superfamily_""Winged helix"" DNA-binding domain" IGF2BP1 10642 genome.wustl.edu 37 17 47075275 47075275 + Silent SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006546.3 +1 reviewed p.T56 0.999 37 0% 50 30% 0 - - - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD IGF2BP1 10642 genome.wustl.edu 37 17 47121442 47121442 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006546.3 +1 reviewed p.S438 1.000 156 0% 206 36.4% 0 - - - - HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) IGF2BP1 10642 genome.wustl.edu 37 17 47122386 47122386 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006546.3 +1 reviewed p.R452C 1.000 232 0% 447 36.5% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) IGF2BP1 10642 genome.wustl.edu 37 17 47123690 47123690 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006546.3 +1 reviewed p.N532 0.084 83 0% 132 25.8% 0 - - - - HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) B4GALNT2 124872 genome.wustl.edu 37 17 47243507 47243507 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153446.2 +1 validated p.S389Y 1.000 113 0% 199 28.1% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases GNGT2 2793 genome.wustl.edu 37 17 47284193 47284193 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031498.2 -1 reviewed p.N46H 0.991 142 0% 241 32.4% 4 0% possibly_damaging(0.524) tolerated(0.11) neutral(0.448) HMMPfam_G-gamma,HMMSmart_SM00224,superfamily_Transducin (heterotrimeric G protein) gamma chain ABI3 51225 genome.wustl.edu 37 17 47288152 47288152 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016428.2 +1 reviewed p.N22 1.000 15 0% 35 34.3% 8 0% - - - NULL ZNF652 22834 genome.wustl.edu 37 17 47394794 47394794 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145365.1 -1 validated p.E98D 1.000 166 0% 352 35.8% 10 10% possibly_damaging(0.741) tolerated(0.14) deleterious(0.521) NULL NXPH3 11248 genome.wustl.edu 37 17 47656399 47656399 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007225.2 +1 validated p.E166K 0.998 90 0% 119 36.1% 6 0% probably_damaging(0.979) deleterious(0.02) deleterious(0.805) HMMPfam_Neurexophilin SPOP 8405 genome.wustl.edu 37 17 47699368 47699368 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001007226.1 -1 reviewed p.E47A 1.000 110 0% 198 29.8% 4 50% possibly_damaging(0.905) tolerated(0.15) deleterious(0.601) HMMPfam_MATH,HMMSmart_SM00061,superfamily_TRAF domain-like SLC35B1 10237 genome.wustl.edu 37 17 47780310 47780310 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005827.1 -1 provisional p.R276* 1.000 190 0% 390 28.7% 185 10.8% - - - HMMPfam_UAA,superfamily_SSF103481 KAT7 11143 genome.wustl.edu 37 17 47886511 47886511 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007067.3 +1 provisional p.E232* 1.000 132 0% 250 34.4% 2 0% - - - NULL DLX4 1748 genome.wustl.edu 37 17 48051254 48051254 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138281.2 +1 reviewed p.A224T 0.813 73 0% 86 36% 0 - benign(0) tolerated(0.96) - NULL DLX3 1747 genome.wustl.edu 37 17 48069065 48069065 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005220.2 -1 reviewed p.A227D 1.000 136 0% 171 32.7% 1 100% benign(0.002) tolerated(0.43) neutral(0.013) NULL ITGA3 3675 genome.wustl.edu 37 17 48149416 48149416 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005501.2 +1 reviewed p.I342 0.986 97 0% 153 32.7% 12 33.3% - - - HMMPfam_FG-GAP,HMMSmart_SM00191,superfamily_Integrin alpha N-terminal domain SGCA 6442 genome.wustl.edu 37 17 48248025 48248025 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000513821 +1 known p.R258* 1.000 81 0% 141 35.5% 2 0% - - - HMMPfam_Sarcoglycan_2 CHAD 1101 genome.wustl.edu 37 17 48545878 48545878 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001267.2 -1 reviewed p.K99 1.000 80 0% 99 27.3% 1 100% - - - HMMSmart_SM00369,superfamily_L domain-like MYCBPAP 84073 genome.wustl.edu 37 17 48600975 48600975 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032133.4 +1 validated p.E532* 1.000 249 0% 338 29% 0 - - - - NULL EPN3 55040 genome.wustl.edu 37 17 48618243 48618243 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017957.2 +1 validated p.R357* 0.996 56 0% 91 36.3% 14 42.8% - - - NULL CACNA1G 8913 genome.wustl.edu 37 17 48655680 48655680 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018896.3 +1 validated p.P686S 0.933 48 0% 53 32.1% 0 - benign(0.003) tolerated(0.37) neutral(0.019) NULL CACNA1G 8913 genome.wustl.edu 37 17 48683320 48683320 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018896.3 +1 validated p.S1453L 0.998 29 0% 51 33.3% 0 - probably_damaging(0.958) deleterious(0.01) deleterious(0.807) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CACNA1G 8913 genome.wustl.edu 37 17 48699062 48699062 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018896.3 +1 validated p.E1989 1.000 173 0% 235 30.6% 0 - - - - NULL CACNA1G 8913 genome.wustl.edu 37 17 48703608 48703608 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018896.3 +1 validated p.E2210D 0.999 53 0% 86 36% 0 - benign(0.177) tolerated(0.18) neutral(0.073) NULL ABCC3 8714 genome.wustl.edu 37 17 48753893 48753893 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003786.3 +1 reviewed p.T1108A 1.000 105 0% 191 31.4% 11 45.4% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain WFIKKN2 124857 genome.wustl.edu 37 17 48917252 48917252 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_175575.5 +1 reviewed p.E201D 0.996 179 0% 369 35.2% 0 - possibly_damaging(0.647) tolerated(0.17) neutral(0.286) NULL WFIKKN2 124857 genome.wustl.edu 37 17 48917663 48917663 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_175575.5 +1 reviewed p.G338 0.004 40 0% 53 37.7% 0 - - - - HMMPfam_Kunitz_BPTI,HMMSmart_KU,superfamily_Prot_inh_Kunz-m SPAG9 9043 genome.wustl.edu 37 17 49071180 49071180 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000514613 -1 known p.S639F 1.000 102 0% 212 39.2% 14 42.8% - - - NULL NME1-NME2 654364 genome.wustl.edu 37 17 49248918 49248918 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001018136.1 +1 validated p.E253* 1.000 132 0% 233 35.6% 1651 37.8% - - - HMMPfam_NDK,HMMSmart_NDK,superfamily_NDK KIF2B 84643 genome.wustl.edu 37 17 51902196 51902196 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032559.4 +1 validated p.L601S 0.000 206 0% 259 33.6% 0 - benign(0.017) tolerated(0.14) neutral(0.250) NULL TMEM100 55273 genome.wustl.edu 37 17 53798372 53798372 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001099640.1 -1 validated p.T20 0.000 115 0% 129 35.7% 2 50% - - - NULL DGKE 8526 genome.wustl.edu 37 17 54923152 54923152 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003647.2 +1 reviewed p.I242 1.000 163 0% 184 35.3% 1 100% - - - HMMPfam_DAGK_cat,HMMSmart_SM00046 TRIM25 7706 genome.wustl.edu 37 17 54973303 54973303 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005082.4 -1 reviewed p.K388N 0.999 131 0% 231 34.2% 15 53.3% possibly_damaging(0.807) tolerated(0.09) deleterious(0.601) NULL AKAP1 8165 genome.wustl.edu 37 17 55183044 55183044 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003488.3 +1 reviewed p.S73 0.000 74 0% 142 33.8% 13 69.2% - - - NULL AKAP1 8165 genome.wustl.edu 37 17 55184427 55184427 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003488.3 +1 reviewed p.P534 0.000 63 0% 90 37.8% 16 62.5% - - - NULL VEZF1 7716 genome.wustl.edu 37 17 56058077 56058077 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007146.2 -1 validated p.S288* 1.000 225 0% 306 32% 16 25% - - - HMMSmart_SM00355 SRSF1 6426 genome.wustl.edu 37 17 56082783 56082783 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006924.4 -1 reviewed p.S244Y 1.000 125 0% 180 34.4% 90 48.8% unknown(0) deleterious(0.03) - NULL EPX 8288 genome.wustl.edu 37 17 56274531 56274531 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000502.4 +1 reviewed p.G345S 1.000 120 0% 182 30.8% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_An_peroxidase,superfamily_Peroxidase_super MKS1 54903 genome.wustl.edu 37 17 56293516 56293516 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017777.3 -1 reviewed p.S117L 0.268 212 0% 326 27% 12 25% benign(0.103) tolerated(0.08) neutral(0.308) NULL SEPT4 5414 genome.wustl.edu 37 17 56598198 56598198 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004574.2 -1 reviewed p.L428R 1.000 228 0% 394 32% 17 0% benign(0.155) tolerated(0.23) neutral(0.055) NULL C17orf47 284083 genome.wustl.edu 37 17 56621043 56621043 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001038704.1 -1 predicted p.Q169* 0.002 181 0% 288 30.6% 0 - - - - NULL PPM1E 22843 genome.wustl.edu 37 17 57033116 57033116 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014906.3 +1 reviewed p.E191* 1.000 131 0% 214 32.2% 0 - - - - NULL PPM1E 22843 genome.wustl.edu 37 17 57057758 57057758 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014906.3 +1 reviewed p.R545H 1.000 90 0% 191 38.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL TRIM37 4591 genome.wustl.edu 37 17 57079065 57079065 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005207.2 -1 reviewed p.S902 0.912 127 0% 197 33.5% 4 50% - - - NULL TRIM37 4591 genome.wustl.edu 37 17 57109445 57109445 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005207.2 -1 reviewed p.S587N 0.923 41 0% 88 33% 8 0% benign(0) tolerated(0.43) neutral(0.013) NULL TRIM37 4591 genome.wustl.edu 37 17 57134351 57134351 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005207.2 -1 reviewed p.E362* 1.000 184 0% 292 36.6% 1 0% - - - HMMPfam_MATH,HMMSmart_SM00061,superfamily_TRAF domain-like GDPD1 284161 genome.wustl.edu 37 17 57348304 57348304 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182569.3 +1 validated p.E240* 1.000 122 0% 220 30.9% 1 0% - - - HMMPfam_GDPD,superfamily_PLC-like phosphodiesterases DHX40 79665 genome.wustl.edu 37 17 57651217 57651217 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024612.4 +1 reviewed p.F221L 1.000 132 0% 236 27.5% 13 38.4% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases DHX40 79665 genome.wustl.edu 37 17 57676800 57676800 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024612.4 +1 reviewed p.R588C 1.000 244 0% 377 28.9% 21 52.3% possibly_damaging(0.876) deleterious(0) deleterious(0.786) NULL CLTC 1213 genome.wustl.edu 37 17 57733300 57733300 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004859.3 +1 reviewed p.Y294C 1.000 189 0.5% 261 27.2% 30 50% benign(0.002) deleterious(0.01) neutral(0.406) superfamily_Clathrin heavy-chain terminal domain CLTC 1213 genome.wustl.edu 37 17 57762424 57762424 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004859.3 +1 reviewed p.R1481Q 1.000 73 0% 103 21.4% 134 40.2% probably_damaging(0.999) tolerated(0.09) deleterious(0.787) HMMPfam_Clathrin,HMMSmart_SM00299,superfamily_ARM repeat PTRH2 51651 genome.wustl.edu 37 17 57775044 57775044 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016077.3 -1 validated p.R99I 0.998 161 0% 259 30.1% 74 51.3% benign(0.113) deleterious(0.03) neutral(0.373) HMMPfam_PTH2,superfamily_Peptidyl-tRNA hydrolase II VMP1 81671 genome.wustl.edu 37 17 57842453 57842453 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030938.3 +1 validated p.S179Y 1.000 205 0% 409 36.2% 40 45% possibly_damaging(0.903) deleterious(0.04) deleterious(0.707) NULL RNFT1 51136 genome.wustl.edu 37 17 58033901 58033901 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016125.3 -1 validated p.F340C 1.000 109 0% 123 32.5% 7 71.4% possibly_damaging(0.87) tolerated(0.33) neutral(0.362) NULL HEATR6 63897 genome.wustl.edu 37 17 58124733 58124733 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022070.4 -1 validated p.F902L 0.997 354 0% 495 33.7% 5 40% benign(0.068) tolerated(0.37) neutral(0.024) superfamily_ARM-type_fold HEATR6 63897 genome.wustl.edu 37 17 58143671 58143671 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022070.4 -1 validated p.L439I 1.000 142 0% 208 22.1% 3 66.6% possibly_damaging(0.873) tolerated(0.16) neutral(0.399) superfamily_ARM-type_fold APPBP2 10513 genome.wustl.edu 37 17 58524951 58524951 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006380.2 -1 reviewed p.P583 1.000 66 0% 115 40.9% 22 63.6% - - - NULL APPBP2 10513 genome.wustl.edu 37 17 58543774 58543774 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006380.2 -1 reviewed p.E184* 1.000 195 0% 359 29.8% 7 14.2% - - - superfamily_TPR-like PPM1D 8493 genome.wustl.edu 37 17 58701094 58701094 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003620.2 +1 reviewed p.E229K 1.000 99 0% 193 33.2% 13 38.4% probably_damaging(1) tolerated(0.09) deleterious(0.796) HMMSmart_SM00332,superfamily_Protein serine/threonine phosphatase 2C catalytic domain,HMMPfam_PP2C BCAS3 54828 genome.wustl.edu 37 17 59067487 59067487 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001099432.1 +1 validated p.Q459H 1.000 85 0% 118 35.6% 11 90.9% benign(0.001) tolerated(1) - NULL BCAS3 54828 genome.wustl.edu 37 17 59152367 59152367 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001099432.1 +1 validated p.E721* 1.000 135 0% 184 22.8% 11 0% - - - NULL BCAS3 54828 genome.wustl.edu 37 17 59469395 59469395 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001099432.1 +1 validated p.G899D 1.000 69 1.4% 69 42% 13 61.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL NACA2 342538 genome.wustl.edu 37 17 59668331 59668331 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_199290.3 -1 validated p.R71W 1.000 411 0% 578 35.6% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_NAC BRIP1 83990 genome.wustl.edu 37 17 59760671 59760671 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032043.1 -1 reviewed p.P1246T 0.018 71 0% 70 30% 1 100% benign(0.001) deleterious(0) neutral(0.445) NULL INTS2 57508 genome.wustl.edu 37 17 59949655 59949655 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020748.2 -1 validated p.E925* 1.000 215 0% 267 29.6% 2 0% - - - NULL MED13 9969 genome.wustl.edu 37 17 60040240 60040240 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005121.2 -1 reviewed p.P1646H 1.000 187 0% 315 26.7% 6 83.3% possibly_damaging(0.945) deleterious(0) deleterious(0.834) HMMPfam_TRAP_240kDa MED13 9969 genome.wustl.edu 37 17 60050217 60050217 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005121.2 -1 reviewed p.R1280* 1.000 140 0% 184 34.2% 5 40% - - - HMMPfam_TRAP_240kDa MED13 9969 genome.wustl.edu 37 17 60106923 60106923 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005121.2 -1 reviewed p.R421K 1.000 142 0% 224 34.4% 3 33.3% possibly_damaging(0.855) tolerated(0.53) neutral(0.338) NULL ENSG00000188755 0 genome.wustl.edu 37 17 60345521 60345521 + Missense_Mutation SNP C C A rs3895728 TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000339120 -1 known p.K249N 0.769 211 0% 283 36.7% 0 - - - - HMMPfam_TBC,HMMSmart_TBC EFCAB3 146779 genome.wustl.edu 37 17 60484014 60484014 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001144933.1 +1 validated p.K273T 0.990 47 0% 49 49% 0 - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL TLK2 11011 genome.wustl.edu 37 17 60655911 60655911 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006852.3 +1 validated p.R421M 1.000 154 0% 292 28.8% 7 42.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TLK2 11011 genome.wustl.edu 37 17 60683575 60683575 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006852.3 +1 validated p.I648 1.000 247 0% 517 32.3% 15 46.6% - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase MARCH10 162333 genome.wustl.edu 37 17 60814634 60814634 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001100875.1 -1 validated p.E199* 0.999 250 0% 457 30.9% 0 - - - - NULL TANC2 26115 genome.wustl.edu 37 17 61417684 61417684 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025185.3 +1 validated p.L526I 1.000 46 0% 64 20.3% 2 100% probably_damaging(0.999) tolerated(0.06) deleterious(0.813) superfamily_P-loop containing nucleoside triphosphate hydrolases TANC2 26115 genome.wustl.edu 37 17 61466098 61466098 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025185.3 +1 validated p.L858I 1.000 235 0% 232 36.2% 2 50% benign(0.425) tolerated(0.1) neutral(0.424) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat ACE 1636 genome.wustl.edu 37 17 61560856 61560856 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000789.2 +1 reviewed p.R508Q 0.845 123 0% 208 28.4% 7 0% benign(0.234) tolerated(0.58) neutral(0.029) "HMMPfam_Peptidase_M2,superfamily_Metalloproteases (""zincins"") catalytic domain" ACE 1636 genome.wustl.edu 37 17 61568661 61568661 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000789.2 +1 reviewed p.S944L 1.000 81 0% 92 37% 11 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) "HMMPfam_Peptidase_M2,superfamily_Metalloproteases (""zincins"") catalytic domain" DCAF7 10238 genome.wustl.edu 37 17 61656741 61656741 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000310827 +1 known p.N114S 1.000 126 0% 243 32.9% 45 33.3% benign(0.103) tolerated(0.75) neutral(0.009) HMMSmart_SM00320,superfamily_WD40 repeat-like MAP3K3 4215 genome.wustl.edu 37 17 61710043 61710043 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_203351.1 +1 reviewed p.E3K 1.000 55 0% 141 35.5% 2 0% probably_damaging(0.965) deleterious(0) deleterious(0.851) NULL DDX42 11325 genome.wustl.edu 37 17 61885111 61885111 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007372.2 +1 reviewed p.D292Y 1.000 118 0.8% 295 35.3% 15 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases DDX42 11325 genome.wustl.edu 37 17 61888507 61888507 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007372.2 +1 reviewed p.R458* 1.000 112 0% 235 28.1% 23 21.7% - - - HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases FTSJ3 117246 genome.wustl.edu 37 17 61898270 61898270 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017647.3 -1 reviewed p.G667 1.000 117 0% 163 28.2% 58 31% - - - HMMPfam_Spb1_C SMARCD2 6603 genome.wustl.edu 37 17 61912912 61912912 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001098426.1 -1 reviewed p.R195W 1.000 105 0% 171 35.1% 54 51.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SMARCD2 6603 genome.wustl.edu 37 17 61914891 61914891 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001098426.1 -1 reviewed p.R104Q 1.000 15 0% 28 28.6% 30 40% probably_damaging(1) tolerated(0.06) deleterious(0.823) NULL GH2 2689 genome.wustl.edu 37 17 61957738 61957738 + Missense_Mutation SNP G G A rs71640282 TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022558.2 -1 reviewed p.S198L 0.089 296 0% 429 35.7% 0 - benign(0.04) deleterious(0) neutral(0.447) NULL GH2 2689 genome.wustl.edu 37 17 61958069 61958069 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022557.2 -1 reviewed p.E173D 0.000 102 0% 145 22.1% 0 - possibly_damaging(0.602) deleterious(0.02) deleterious(0.592) NULL CSHL1 1444 genome.wustl.edu 37 17 61987449 61987449 + Missense_Mutation SNP A A T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000450719 -1 known p.C177S 0.000 128 0% 181 28.7% 0 - benign(0.04) deleterious(0.02) neutral(0.386) NULL SCN4A 6329 genome.wustl.edu 37 17 62018602 62018602 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000334.4 -1 reviewed p.L1680 1.000 213 0% 356 30.9% 0 - - - - NULL SCN4A 6329 genome.wustl.edu 37 17 62019157 62019157 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000334.4 -1 reviewed p.I1495 1.000 179 0% 399 32.1% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN4A 6329 genome.wustl.edu 37 17 62042029 62042029 + Silent SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000334.4 -1 reviewed p.R417 0.991 128 0% 332 22.9% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels TEX2 55852 genome.wustl.edu 37 17 62238177 62238177 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018469.3 -1 validated p.E937* 1.000 242 0% 364 28.8% 8 12.5% - - - NULL TEX2 55852 genome.wustl.edu 37 17 62290103 62290103 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018469.3 -1 validated p.P492H 1.000 146 0% 255 34.9% 7 42.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CEP95 90799 genome.wustl.edu 37 17 62512937 62512937 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138363.1 +1 provisional p.S155Y 0.998 176 0% 283 30.7% 4 75% probably_damaging(0.966) deleterious(0.02) deleterious(0.791) NULL CEP95 90799 genome.wustl.edu 37 17 62518917 62518917 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138363.1 +1 provisional p.E271D 0.003 218 0% 309 31.1% 5 40% probably_damaging(0.972) deleterious(0.03) deleterious(0.778) NULL CEP95 90799 genome.wustl.edu 37 17 62523228 62523228 + Splice_Site SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138363.1 +1 provisional e11-1 1.000 109 0% 218 37.2% 0 - - - - - CEP95 90799 genome.wustl.edu 37 17 62523293 62523293 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138363.1 +1 provisional p.G406V 0.012 126 0% 288 25.7% 4 25% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL LRRC37A3 374819 genome.wustl.edu 37 17 62854992 62854992 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_199340.2 -1 provisional p.E1572* 0.994 343 0% 387 26.6% 7 14.2% - - - NULL LRRC37A3 374819 genome.wustl.edu 37 17 62856174 62856174 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_199340.2 -1 provisional p.D1364Y 0.009 75 0% 114 36.8% 5 40% possibly_damaging(0.882) deleterious(0) deleterious(0.789) NULL ENSG00000232457 0 genome.wustl.edu 37 17 62952442 62952442 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000413214 +1 known p.I132 0.152 55 0% 104 22.1% 0 - - - - superfamily_MFS general substrate transporter GNA13 10672 genome.wustl.edu 37 17 63052493 63052493 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006572.4 -1 validated p.G73 0.996 43 0% 42 57.1% 9 44.4% - - - HMMPfam_G-alpha,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases RGS9 8787 genome.wustl.edu 37 17 63193250 63193250 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003835.3 +1 reviewed p.E289D 0.017 89 0% 130 33.1% 0 - benign(0) tolerated(0.19) neutral(0.050) superfamily_Regulator of G-protein signaling RGS AXIN2 8313 genome.wustl.edu 37 17 63554433 63554433 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004655.3 -1 reviewed p.E102 1.000 165 0% 268 31.7% 37 54% - - - HMMPfam_RGS,HMMSmart_SM00315,superfamily_Regulator of G-protein signaling RGS CEP112 201134 genome.wustl.edu 37 17 64001869 64001869 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145036.3 -1 validated p.E559* 1.000 154 0% 152 31.6% 1 0% - - - NULL CEP112 201134 genome.wustl.edu 37 17 64025264 64025264 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145036.3 -1 validated p.E494* 1.000 336 0% 451 32.2% 0 - - - - NULL CEP112 201134 genome.wustl.edu 37 17 64026046 64026046 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145036.3 -1 validated p.K438 0.754 337 0% 300 33% 3 0% - - - NULL CEP112 201134 genome.wustl.edu 37 17 64062923 64062923 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145036.3 -1 validated p.E310* 1.000 508 0% 694 32% 0 - - - - NULL PRKCA 5578 genome.wustl.edu 37 17 64685162 64685162 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002737.2 +1 reviewed p.F305 1.000 95 0% 199 33.2% 7 42.8% - - - NULL PRKCA 5578 genome.wustl.edu 37 17 64734955 64734955 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002737.2 +1 reviewed p.F435C 1.000 183 0% 368 31% 5 80% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase CACNG4 27092 genome.wustl.edu 37 17 65021073 65021073 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014405.2 +1 reviewed p.K134N 0.976 90 0% 86 32.6% 46 8.6% benign(0.245) deleterious(0) deleterious(0.470) HMMPfam_PMP22_Claudin HELZ 9931 genome.wustl.edu 37 17 65103322 65103322 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014877.3 -1 validated p.R1735Q 1.000 131 0% 274 37.6% 13 53.8% unknown(0) deleterious(0.02) - NULL PSMD12 5718 genome.wustl.edu 37 17 65346383 65346383 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002816.3 -1 reviewed p.R123* 1.000 134 0% 261 26.4% 17 17.6% - - - NULL PITPNC1 26207 genome.wustl.edu 37 17 65688749 65688749 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012417.2 +1 reviewed p.K248N 1.000 149 0% 284 39.8% 73 43.8% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL BPTF 2186 genome.wustl.edu 37 17 65871751 65871751 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004459.6 +1 reviewed p.E648D 1.000 81 0% 114 29.8% 1 0% benign(0.004) tolerated(0.36) neutral(0.020) NULL BPTF 2186 genome.wustl.edu 37 17 65888109 65888109 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182641.3 +1 reviewed p.A672T 1.000 57 0% 90 27.8% 3 33.3% probably_damaging(0.996) tolerated(0.3) deleterious(0.490) NULL BPTF 2186 genome.wustl.edu 37 17 65905752 65905752 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182641.3 +1 reviewed p.R956Q 0.959 69 0% 105 28.6% 2 50% benign(0.112) tolerated(0.44) neutral(0.021) NULL BPTF 2186 genome.wustl.edu 37 17 65907645 65907645 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182641.3 +1 reviewed p.I1215 0.000 62 0% 94 28.7% 3 33.3% - - - NULL BPTF 2186 genome.wustl.edu 37 17 65908108 65908108 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182641.3 +1 reviewed p.R1370G 0.071 74 0% 129 34.9% 1 100% benign(0) deleterious(0.02) neutral(0.383) NULL BPTF 2186 genome.wustl.edu 37 17 65955664 65955664 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182641.3 +1 reviewed p.L2645P 1.000 16 0% 28 21.4% 31 41.9% probably_damaging(1) deleterious(0) deleterious(0.945) NULL KPNA2 3838 genome.wustl.edu 37 17 66033550 66033550 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002266.2 +1 reviewed p.R51I 1.000 71 0% 204 24% 71 39.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_IBB,superfamily_ARM repeat PRKAR1A 5573 genome.wustl.edu 37 17 66511612 66511612 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002734.3 +1 reviewed p.K24 1.000 86 0% 128 32% 27 18.5% - - - NULL PRKAR1A 5573 genome.wustl.edu 37 17 66511703 66511703 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002734.3 +1 reviewed p.E55* 1.000 89 0% 144 31.9% 43 6.9% - - - HMMPfam_RIIa,HMMSmart_SM00394 FAM20A 54757 genome.wustl.edu 37 17 66535499 66535499 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017565.3 -1 validated p.S447L 0.995 242 0% 409 29.3% 9 0% benign(0.032) tolerated(0.15) neutral(0.242) HMMPfam_DUF1193 ABCA8 10351 genome.wustl.edu 37 17 66878855 66878855 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007168.2 -1 reviewed p.S1198Y 1.000 374 0% 378 30.4% 6 0% benign(0) tolerated(0.06) neutral(0.323) NULL ABCA8 10351 genome.wustl.edu 37 17 66902305 66902305 + Splice_Site SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007168.2 -1 reviewed e16-1 0.997 165 0% 235 35.3% 0 - - - - - ABCA8 10351 genome.wustl.edu 37 17 66903889 66903889 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007168.2 -1 reviewed p.K717T 0.657 400 0% 480 32.7% 0 - benign(0.037) tolerated(0.14) neutral(0.252) NULL ABCA9 10350 genome.wustl.edu 37 17 66989176 66989176 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_080283.3 -1 reviewed p.V1202A 0.000 228 0% 289 31.5% 0 - benign(0) tolerated(0.47) neutral(0.011) NULL ABCA6 23460 genome.wustl.edu 37 17 67075167 67075167 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_080284.2 -1 reviewed p.E1601K 1.000 386 0% 358 25.1% 6 0% benign(0.187) tolerated(0.11) neutral(0.289) NULL ABCA6 23460 genome.wustl.edu 37 17 67101693 67101693 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_080284.2 -1 reviewed p.D884N 0.000 179 0% 145 33.1% 0 - benign(0.01) tolerated(0.28) neutral(0.032) NULL ABCA6 23460 genome.wustl.edu 37 17 67101697 67101697 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_080284.2 -1 reviewed p.K882N 0.000 179 0% 138 37% 0 - benign(0.124) tolerated(0.39) neutral(0.026) NULL ABCA10 10349 genome.wustl.edu 37 17 67148254 67148254 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_080282.3 -1 reviewed p.E1443K 0.835 390 0.3% 388 24.2% 0 - possibly_damaging(0.671) tolerated(0.37) neutral(0.257) superfamily_P-loop containing nucleoside triphosphate hydrolases ABCA10 10349 genome.wustl.edu 37 17 67151162 67151162 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_080282.3 -1 reviewed p.K1231T 1.000 130 0% 144 28.5% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCA10 10349 genome.wustl.edu 37 17 67178908 67178908 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_080282.3 -1 reviewed p.D847Y 0.582 179 0% 114 30.7% 0 - probably_damaging(0.961) deleterious(0.01) deleterious(0.810) NULL ABCA10 10349 genome.wustl.edu 37 17 67197811 67197811 + Splice_Site SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_080282.3 -1 reviewed e8-2 0.073 87 0% 98 37.8% 0 - - - - - ABCA5 23461 genome.wustl.edu 37 17 67247996 67247996 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018672.3 -1 reviewed p.R1476Q 1.000 118 0% 142 29.6% 7 28.5% probably_damaging(0.977) tolerated(0.43) neutral(0.432) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCA5 23461 genome.wustl.edu 37 17 67257346 67257346 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018672.3 -1 reviewed p.I1162L 0.012 100 0% 117 22.2% 3 66.6% benign(0) tolerated(1) - NULL SOX9 6662 genome.wustl.edu 37 17 70120328 70120328 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000346.3 +1 reviewed p.D444N 1.000 274 0% 406 35.7% 8 0% benign(0.274) deleterious(0) deleterious(0.474) NULL SDK2 54549 genome.wustl.edu 37 17 71346499 71346499 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001144952.1 -1 provisional p.S1972Y 0.994 104 0% 129 36.4% 0 - benign(0.004) tolerated(0.36) neutral(0.020) NULL SDK2 54549 genome.wustl.edu 37 17 71364724 71364724 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001144952.1 -1 provisional p.F1663L 1.000 47 0% 62 32.3% 0 - benign(0.379) deleterious(0.01) deleterious(0.526) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III SDK2 54549 genome.wustl.edu 37 17 71420182 71420182 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001144952.1 -1 provisional p.R545C 0.999 38 0% 47 19.1% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin SDK2 54549 genome.wustl.edu 37 17 71434243 71434243 + Missense_Mutation SNP G G A rs146398103 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001144952.1 -1 provisional p.S259L 0.866 54 0% 55 36.4% 0 - benign(0.026) tolerated(0.2) neutral(0.050) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin DNAI2 64446 genome.wustl.edu 37 17 72301466 72301466 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_023036.4 +1 reviewed p.P366T 1.000 87 0% 139 33.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 KIF19 124602 genome.wustl.edu 37 17 72339197 72339197 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153209.3 +1 validated p.D118E 0.859 63 0% 100 38% 0 - possibly_damaging(0.662) tolerated(0.35) neutral(0.255) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases KIF19 124602 genome.wustl.edu 37 17 72343978 72343979 + Frame_Shift_Ins INS - - T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153209.3 +1 validated p.E330fs 0.924:0.998 - - - - - - - - - HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases KIF19 124602 genome.wustl.edu 37 17 72351436 72351436 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153209.3 +1 validated p.C994 0.033 36 0% 55 34.5% 0 - - - - NULL GPR142 350383 genome.wustl.edu 37 17 72368597 72368597 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_181790.1 +1 provisional p.F416S 0.988 31 0% 36 33.3% 0 - probably_damaging(0.962) deleterious(0) deleterious(0.850) superfamily_SSF81321 LOC100289576 100289576 genome.wustl.edu 37 17 72436815 72436815 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002343581.1 -1 model p.D190Y 0.998 68 0% 110 34.5% 4 25% - - - NULL CD300E 342510 genome.wustl.edu 37 17 72613513 72613513 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_181449.1 -1 provisional p.G44 0.000 144 0% 204 35.3% 3 0% - - - HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin RAB37 326624 genome.wustl.edu 37 17 72739435 72739435 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001006638.2 +1 validated p.L108M 1.000 203 0% 398 34.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540 FADS6 283985 genome.wustl.edu 37 17 72878907 72878907 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000413142 -1 known p.Q14R 0.000 27 0% 40 32.5% 0 - unknown(0) - - NULL USH1G 124590 genome.wustl.edu 37 17 72916093 72916093 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173477.2 -1 reviewed p.E280K 0.995 31 0% 38 47.4% 14 42.8% possibly_damaging(0.822) tolerated(0.2) neutral(0.360) NULL OTOP3 347741 genome.wustl.edu 37 17 72937555 72937555 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178233.1 +1 provisional p.E47 0.015 43 0% 55 47.3% 0 - - - - NULL C17orf28 283987 genome.wustl.edu 37 17 72958404 72958404 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030630.2 -1 validated p.S179N 1.000 37 0% 40 40% 99 46.4% probably_damaging(0.997) tolerated(0.12) deleterious(0.727) HMMPfam_Hid1 ICT1 3396 genome.wustl.edu 37 17 73017020 73017020 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001545.1 +1 reviewed p.E181* 1.000 101 0% 169 34.9% 49 42.8% - - - HMMPfam_RF-1 ATP5H 10476 genome.wustl.edu 37 17 73038338 73038338 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006356.2 -1 reviewed p.D53N 1.000 59 0% 140 38.6% 359 46.5% benign(0.001) tolerated(0.17) neutral(0.059) HMMPfam_Mt_ATP-synt_D KCTD2 23510 genome.wustl.edu 37 17 73049153 73049153 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015353.1 +1 validated p.R165W 1.000 152 0% 394 32.7% 17 41.1% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_POZ domain GGA3 23163 genome.wustl.edu 37 17 73239628 73239628 + Missense_Mutation SNP C C A rs60681847 TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138619.2 -1 reviewed p.E108D 1.000 159 0% 319 35.4% 11 54.5% benign(0.013) deleterious(0.04) neutral(0.349) HMMPfam_VHS,superfamily_ENTH/VHS domain,HMMSmart_SM00288 MRPS7 51081 genome.wustl.edu 37 17 73258680 73258680 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015971.3 +1 reviewed p.E62D 0.905 76 0% 218 37.2% 92 43.4% benign(0.007) tolerated(0.24) neutral(0.037) superfamily_Ribosomal protein S7 SLC25A19 60386 genome.wustl.edu 37 17 73282737 73282737 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001126121.1 -1 reviewed p.D37N 1.000 68 0% 194 29.9% 9 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Mitochondrial carrier,HMMPfam_Mito_carr ITGB4 3691 genome.wustl.edu 37 17 73725487 73725487 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000213.3 +1 reviewed p.F236 0.270 82 0% 172 38.4% 87 41.3% - - - HMMPfam_Integrin_beta,HMMSmart_SM00187,superfamily_vWA-like ITGB4 3691 genome.wustl.edu 37 17 73732135 73732135 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000213.3 +1 reviewed p.R554Q 1.000 106 0% 185 28.1% 120 60% possibly_damaging(0.946) tolerated(0.12) deleterious(0.651) HMMPfam_EGF_2,superfamily_EGF/Laminin UNC13D 201294 genome.wustl.edu 37 17 73827221 73827221 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_199242.2 -1 reviewed p.G861 0.991 71 0% 135 31.9% 6 16.6% - - - HMMPfam_Membr_traf_MHD UNC13D 201294 genome.wustl.edu 37 17 73839254 73839254 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_199242.2 -1 reviewed p.R83* 0.000 18 0% 29 37.9% 1 0% - - - NULL MRPL38 64978 genome.wustl.edu 37 17 73895042 73895042 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032478.3 -1 reviewed p.F344 1.000 32 0% 37 40.5% 112 41% - - - NULL FBF1 85302 genome.wustl.edu 37 17 73913920 73913920 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080542.1 -1 provisional p.R785W 1.000 42 0% 60 31.7% 2 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL ACOX1 51 genome.wustl.edu 37 17 73974773 73974773 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004035.6 -1 reviewed p.E37D 0.996 71 0% 204 27% 12 50% benign(0.008) tolerated(0.08) neutral(0.300) superfamily_AcylCoA_dehyd_NM SRP68 6730 genome.wustl.edu 37 17 74057228 74057228 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014230.2 -1 reviewed p.E239D 1.000 122 0.8% 312 27.6% 44 36.3% possibly_damaging(0.481) tolerated(0.08) neutral(0.460) NULL RNF157 114804 genome.wustl.edu 37 17 74163194 74163194 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_052916.2 -1 validated p.D153Y 1.000 40 0% 36 33.3% 1 0% possibly_damaging(0.9) tolerated(0.1) deleterious(0.643) NULL PRPSAP1 5635 genome.wustl.edu 37 17 74307700 74307700 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002766.2 -1 validated p.L361I 1.000 100 0% 189 35.4% 29 44.8% benign(0.136) tolerated(0.3) neutral(0.040) superfamily_PRTase-like UBE2O 63893 genome.wustl.edu 37 17 74392422 74392422 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022066.3 -1 validated p.K866E 1.000 126 0% 163 36.8% 15 46.6% probably_damaging(0.993) tolerated(0.47) neutral(0.461) NULL AANAT 15 genome.wustl.edu 37 17 74465259 74465259 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001088.2 +1 reviewed p.F56L 0.999 98 0% 109 33% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Acyl_CoA_acyltransferase ST6GALNAC1 55808 genome.wustl.edu 37 17 74621543 74621543 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018414.3 -1 validated p.W558R 0.915 87 0% 160 34.4% 113 45.1% probably_damaging(0.995) tolerated(0.07) deleterious(0.776) HMMPfam_Glyco_transf_29 JMJD6 23210 genome.wustl.edu 37 17 74721681 74721681 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001081461.1 -1 reviewed p.P129L 1.000 162 0% 338 32.2% 36 38.8% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Clavaminate synthase-like MGAT5B 146664 genome.wustl.edu 37 17 74869037 74869037 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198955.1 +1 validated p.R69H 1.000 108 0.9% 181 24.3% 1 100% benign(0.064) deleterious(0.01) neutral(0.410) NULL SEC14L1 6397 genome.wustl.edu 37 17 75186929 75186929 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001039573.2 +1 reviewed p.F36 1.000 94 0% 183 30.1% 20 45% - - - HMMPfam_PRELI SEPT9 10801 genome.wustl.edu 37 17 75471796 75471796 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001113495.1 +1 reviewed p.R66C 0.000 52 0% 84 26.2% 0 - unknown(0) - - NULL SEPT9 10801 genome.wustl.edu 37 17 75478396 75478396 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001113491.1 +1 reviewed p.E298K 1.000 28 0% 51 23.5% 124 23.3% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_Septin,superfamily_P-loop containing nucleoside triphosphate hydrolases ENSG00000204283 0 genome.wustl.edu 37 17 75878269 75878269 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000374983 -1 known p.Q68H 0.000 541 0% 1282 32.6% 0 - possibly_damaging(0.653) - - NULL TNRC6C 57690 genome.wustl.edu 37 17 76063847 76063847 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142640.1 +1 validated p.S871Y 1.000 188 0% 281 34.2% 0 - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_Ago_hook TMC8 147138 genome.wustl.edu 37 17 76129622 76129622 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000301627 +1 known p.R223* 0.073 42 0% 71 35.2% 1 0% - - - NULL PGS1 9489 genome.wustl.edu 37 17 76399861 76399861 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024419.3 +1 provisional p.D365N 1.000 93 0% 170 35.3% 20 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL DNAH17 8632 genome.wustl.edu 37 17 76451802 76451802 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000389840 -1 known p.Y3351C 1.000 78 0% 118 32.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL DNAH17 8632 genome.wustl.edu 37 17 76510861 76510861 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000389840 -1 known p.T1366A 1.000 45 0% 82 45.1% 0 - possibly_damaging(0.582) deleterious(0.01) deleterious(0.606) HMMPfam_DHC_N2 DNAH17 8632 genome.wustl.edu 37 17 76533412 76533412 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000389840 -1 known p.P943H 1.000 73 0% 116 28.4% 0 - possibly_damaging(0.948) tolerated(0.12) deleterious(0.651) NULL DNAH17 8632 genome.wustl.edu 37 17 76570944 76570944 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000389840 -1 known p.L66 0.999 168 0% 246 38.6% 0 - - - - NULL USP36 57602 genome.wustl.edu 37 17 76795780 76795780 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025090.3 -1 validated p.K1031N 0.163 110 0% 206 34.5% 28 39.2% probably_damaging(0.976) deleterious(0) deleterious(0.863) NULL C1QTNF1 114897 genome.wustl.edu 37 17 77042739 77042739 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030968.2 +1 validated p.A86 0.003 44 0% 65 18.5% 3 0% - - - NULL C1QTNF1 114897 genome.wustl.edu 37 17 77044048 77044048 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030968.2 +1 validated p.E242* 0.988 68 0% 119 42.9% 15 0% - - - HMMPfam_C1q,HMMSmart_C1Q,superfamily_TNF_like CCDC40 55036 genome.wustl.edu 37 17 78023737 78023737 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017950.2 +1 validated p.K296N 0.994 72 0% 130 36.9% 15 33.3% possibly_damaging(0.783) deleterious(0.04) deleterious(0.642) NULL CCDC40 55036 genome.wustl.edu 37 17 78055498 78055498 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017950.2 +1 validated p.C572 0.865 20 0% 47 36.2% 10 10% - - - NULL EIF4A3 9775 genome.wustl.edu 37 17 78117975 78117975 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014740.3 -1 reviewed p.A80T 0.986 113 0% 245 41.6% 117 39.3% probably_damaging(0.987) deleterious(0) deleterious(0.881) HMMPfam_DEAD,HMMSmart_DEXDc,superfamily_SSF52540 CARD14 79092 genome.wustl.edu 37 17 78163590 78163590 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024110.2 +1 reviewed p.A294 0.936 15 0% 15 40% 0 - - - - NULL CARD14 79092 genome.wustl.edu 37 17 78169103 78169103 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024110.2 +1 reviewed p.E490D 0.648 46 0% 49 24.5% 0 - benign(0.001) tolerated(0.08) neutral(0.300) NULL RNF213 57674 genome.wustl.edu 37 17 78269422 78269422 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020954.2 +1 validated p.T607 0.000 120 0% 316 32.9% 4 50% - - - NULL RNF213 57674 genome.wustl.edu 37 17 78313383 78313383 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000508628 +1 known p.R1739M 0.000 36 0% 103 34% 3 66.6% possibly_damaging(0.512) - - NULL RNF213 57674 genome.wustl.edu 37 17 78318619 78318619 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000508628 +1 known p.E2162K 0.716 122 0% 249 36.9% 2 100% possibly_damaging(0.892) tolerated(0.2) neutral(0.400) NULL RNF213 57674 genome.wustl.edu 37 17 78320271 78320271 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000508628 +1 known p.P2712 0.058 41 0% 54 29.6% 3 0% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases ENSG00000237199 0 genome.wustl.edu 37 17 78326947 78326947 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000437954 -1 known p.L25F 0.000 18 0% 31 32.3% 4 0% - - - NULL RPTOR 57521 genome.wustl.edu 37 17 78811749 78811749 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020761.2 +1 reviewed p.I388 0.809 88 0% 128 39.1% 10 50% - - - NULL AATK 9625 genome.wustl.edu 37 17 79101673 79101673 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080395.2 -1 reviewed p.A151D 1.000 40 0% 47 34% 0 - benign(0.186) deleterious(0.03) neutral(0.382) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP AZI1 22994 genome.wustl.edu 37 17 79168754 79168754 + Nonsense_Mutation SNP C C A rs34085091 TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014984.2 -1 validated p.E679* 1.000 177 0% 229 28.4% 12 16.6% - - - NULL AZI1 22994 genome.wustl.edu 37 17 79173629 79173629 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014984.2 -1 validated p.R305W 1.000 26 0% 12 50% 8 12.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PDE6G 5148 genome.wustl.edu 37 17 79617928 79617928 + RNA SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NR_026872.1 -1 reviewed NULL 0.000 9 0.000 23 0.435 1 0% - - - - P4HB 5034 genome.wustl.edu 37 17 79817097 79817097 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000918.3 -1 reviewed p.F104L 1.000 82 0% 133 21.1% 921 33.1% possibly_damaging(0.687) tolerated(0.16) neutral(0.305) superfamily_Thioredoxin-like,HMMPfam_Thioredoxin SIRT7 51547 genome.wustl.edu 37 17 79871681 79871681 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016538.1 -1 reviewed p.E325K 0.997 45 0% 57 21.1% 32 46.8% benign(0.003) tolerated(1) - superfamily_DHS-like NAD/FAD-binding domain ASPSCR1 79058 genome.wustl.edu 37 17 79943386 79943386 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024083.2 +1 reviewed p.R93C 0.972 109 0% 192 31.2% 41 48.7% unknown(0) deleterious(0.02) - NULL DUS1L 64118 genome.wustl.edu 37 17 80017870 80017870 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022156.3 -1 validated p.K374N 1.000 249 0% 327 32.1% 152 44.7% probably_damaging(0.997) deleterious(0.05) deleterious(0.811) NULL FASN 2194 genome.wustl.edu 37 17 80045864 80045864 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004104.4 -1 reviewed p.F944 0.972 20 0% 43 25.6% 55 50.9% - - - NULL CSNK1D 1453 genome.wustl.edu 37 17 80203901 80203901 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_139062.1 -1 reviewed p.F404 1.000 98 0% 176 34.7% 130 48.4% - - - NULL CSNK1D 1453 genome.wustl.edu 37 17 80209401 80209401 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001893.3 -1 reviewed p.E247K 1.000 84 0% 233 38.6% 129 54.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase C17orf101 79701 genome.wustl.edu 37 17 80363250 80363250 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_175902.4 -1 validated p.F165 0.973 65 0% 112 33% 16 62.5% - - - HMMSmart_SM00702 FN3KRP 79672 genome.wustl.edu 37 17 80684402 80684402 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024619.3 +1 validated p.R172H 1.000 163 0% 247 39.3% 31 41.9% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Kinase_like TBCD 6904 genome.wustl.edu 37 17 80726397 80726397 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005993.4 +1 reviewed p.G179 0.250 188 0% 404 32.9% 15 60% - - - superfamily_ARM repeat ZNF750 79755 genome.wustl.edu 37 17 80788421 80788421 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024702.2 -1 reviewed p.S590F 0.002 60 0% 75 38.7% 27 22.2% probably_damaging(0.959) deleterious(0.01) deleterious(0.808) NULL TBCD 6904 genome.wustl.edu 37 17 80895195 80895195 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005993.4 +1 reviewed p.K1080N 0.981 122 0% 202 33.2% 77 16.8% benign(0.282) tolerated(0.08) neutral(0.386) superfamily_ARM repeat B3GNTL1 146712 genome.wustl.edu 37 17 80904842 80904842 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001009905.1 -1 validated p.A341 0.974 74 0% 92 32.6% 6 0% - - - NULL USP14 9097 genome.wustl.edu 37 18 203144 203144 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005151.3 +1 reviewed p.R330Q 1.000 149 0% 145 28.3% 26 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UCH,superfamily_SSF54001 COLEC12 81035 genome.wustl.edu 37 18 331680 331680 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_130386.2 -1 validated p.S684Y 0.002 198 0% 213 36.2% 12 0% probably_damaging(0.953) - - HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like COLEC12 81035 genome.wustl.edu 37 18 333084 333084 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_130386.2 -1 validated p.E626* 0.988 115 0% 169 33.1% 0 - - - - HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like ENOSF1 55556 genome.wustl.edu 37 18 697289 697289 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_202758.2 -1 validated p.D108A 0.995 197 0% 281 30.6% 1 0% benign(0.253) tolerated(0.18) neutral(0.082) HMMPfam_MR_MLE_N,superfamily_SSF54826 ADCYAP1 116 genome.wustl.edu 37 18 908291 908291 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001099733.1 +1 reviewed p.E90K 0.999 24 0% 21 52.4% 0 - benign(0) tolerated(1) - HMMPfam_Hormone_2,HMMSmart_GLUCA METTL4 64863 genome.wustl.edu 37 18 2563848 2563848 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022840.3 -1 validated p.R136I 1.000 203 0% 356 29.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL NDC80 10403 genome.wustl.edu 37 18 2616499 2616499 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006101.2 +1 validated p.L619I 1.000 64 0% 79 35.4% 18 50% possibly_damaging(0.485) tolerated(0.18) neutral(0.217) NULL SMCHD1 23347 genome.wustl.edu 37 18 2726449 2726449 + Splice_Site SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015295.2 +1 validated e22-1 1.000 79 0% 57 22.8% 0 - - - - - EMILIN2 84034 genome.wustl.edu 37 18 2908948 2908948 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032048.2 +1 validated p.P890 0.905 237 0% 365 33.2% 2 0% - - - NULL LPIN2 9663 genome.wustl.edu 37 18 2921613 2921613 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014646.2 -1 reviewed p.K787R 1.000 104 0% 173 28.9% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_LNS2,HMMSmart_LNS2,superfamily_SSF56784 MYOM1 8736 genome.wustl.edu 37 18 3067449 3067449 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003803.3 -1 reviewed p.F1623 0.053 48 0% 96 27.1% 2 50% - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin MYOM1 8736 genome.wustl.edu 37 18 3094275 3094275 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003803.3 -1 reviewed p.E1253* 1.000 163 0% 264 29.9% 2 0% - - - HMMSmart_SM00409,superfamily_Immunoglobulin MYOM1 8736 genome.wustl.edu 37 18 3100370 3100370 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003803.3 -1 reviewed p.C1210 0.983 169 0.6% 285 35.4% 1 0% - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin MYOM1 8736 genome.wustl.edu 37 18 3131413 3131413 + Nonsense_Mutation SNP A A T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003803.3 -1 reviewed p.Y822* 1.000 196 0% 246 28% 0 - - - - HMMPfam_fn3,superfamily_Fibronectin type III MYOM1 8736 genome.wustl.edu 37 18 3164279 3164279 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003803.3 -1 reviewed p.R500* 1.000 137 0% 210 32.9% 0 - - - - HMMSmart_SM00409,superfamily_Immunoglobulin DLGAP1 9229 genome.wustl.edu 37 18 3582195 3582195 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004746.2 -1 provisional p.R548I 1.000 295 0% 779 31.7% 2 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL DLGAP1 9229 genome.wustl.edu 37 18 3729346 3729346 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004746.2 -1 provisional p.F460 0.987 34 0% 28 25% 1 100% - - - NULL ZFP161 7541 genome.wustl.edu 37 18 5291576 5291576 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001143823.1 -1 validated p.R211W 0.424 113 0% 121 38.8% 8 62.5% probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL EPB41L3 23136 genome.wustl.edu 37 18 5397189 5397189 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012307.2 -1 provisional p.E903D 1.000 127 0% 117 34.2% 1 0% probably_damaging(0.995) tolerated(0.23) deleterious(0.499) NULL L3MBTL4 91133 genome.wustl.edu 37 18 6239724 6239724 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173464.3 -1 validated p.D234N 1.000 189 0% 427 30.4% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MBT,HMMSmart_MBT,superfamily_SSF63748 L3MBTL4 91133 genome.wustl.edu 37 18 6241449 6241449 + Splice_Site SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173464.3 -1 validated e6-1 1.000 98 0% 88 31.8% 0 - - - - - L3MBTL4 91133 genome.wustl.edu 37 18 6263987 6263987 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173464.3 -1 validated p.E60* 0.990 144 0% 166 34.3% 0 - - - - HMMSmart_MBT,superfamily_SSF63748 ARHGAP28 79822 genome.wustl.edu 37 18 6850870 6850870 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000383472 +1 known p.E3* 0.000 16 0% 23 39.1% 0 - - - - NULL ARHGAP28 79822 genome.wustl.edu 37 18 6868200 6868200 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001010000.1 +1 validated p.E101K 0.005 316 0% 360 35% 0 - benign(0) tolerated(0.26) neutral(0.034) NULL ARHGAP28 79822 genome.wustl.edu 37 18 6873407 6873407 + Splice_Site SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001010000.1 +1 validated e6-1 1.000 234 0% 245 23.7% 0 - - - - - ARHGAP28 79822 genome.wustl.edu 37 18 6896576 6896576 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001010000.1 +1 validated p.N502D 1.000 152 0% 266 38.3% 0 - benign(0.007) tolerated(0.42) neutral(0.014) NULL LAMA1 284217 genome.wustl.edu 37 18 6973117 6973117 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005559.2 -1 validated p.N2238T 0.179 383 0% 617 34.5% 1 0% benign(0) tolerated(1) - HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_1 LAMA1 284217 genome.wustl.edu 37 18 6992626 6992626 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005559.2 -1 validated p.S1701Y 0.211 236 0% 276 35.1% 0 - possibly_damaging(0.791) deleterious(0.04) deleterious(0.645) superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_I PTPRM 5797 genome.wustl.edu 37 18 8076493 8076493 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001105244.1 +1 reviewed p.T494 0.998 216 0% 159 37.1% 4 0% - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III RAB12 201475 genome.wustl.edu 37 18 8633288 8633288 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001025300.2 +1 validated p.F130C 1.000 225 0% 457 34.1% 11 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540 SOGA2 23255 genome.wustl.edu 37 18 8825193 8825193 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015210.3 +1 predicted p.G1229S 0.003 25 0% 17 35.3% 3 33.3% benign(0.005) deleterious(0.02) neutral(0.383) NULL ANKRD12 23253 genome.wustl.edu 37 18 9255459 9255459 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015208.3 +1 validated p.D732Y 1.000 87 0% 71 25.4% 1 0% unknown(0) - - superfamily_Ankyrin repeat ANKRD12 23253 genome.wustl.edu 37 18 9256801 9256801 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015208.3 +1 validated p.S1179Y 0.000 30 0% 21 19% 1 0% possibly_damaging(0.46) deleterious(0.03) deleterious(0.515) superfamily_Ankyrin repeat TWSG1 57045 genome.wustl.edu 37 18 9399433 9399433 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020648.5 +1 validated p.R194C 1.000 193 0% 268 29.9% 9 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Tsg RALBP1 10928 genome.wustl.edu 37 18 9517138 9517138 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006788.3 +1 validated p.Q180H 0.961 88 0% 235 26.8% 31 48.3% possibly_damaging(0.593) tolerated(0.11) deleterious(0.477) NULL PPP4R1 9989 genome.wustl.edu 37 18 9550296 9550296 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001042388.1 -1 validated p.R798C 1.000 208 0.5% 301 31.6% 38 42.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HEAT,superfamily_ARM repeat APCDD1 147495 genome.wustl.edu 37 18 10454982 10454982 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153000.4 +1 validated p.S2P 0.939 17 0.000 9 0.556 20 30% benign(0.045) tolerated(0.35) neutral(0.023) NULL PIEZO2 63895 genome.wustl.edu 37 18 10677825 10677825 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000503781 -1 known p.S448Y 0.998 197 0% 210 28.1% 0 - benign(0.223) tolerated(1) neutral(0.022) NULL ENSG00000168738 0 genome.wustl.edu 37 18 10803903 10803903 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000302079 -1 known p.Y262 0.148 242 0% 261 26.8% 0 - - - - NULL SLC35G4 646000 genome.wustl.edu 37 18 11644428 11644428 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000424015 +1 known p.L207F 0.294 131 0% 186 48.4% 0 - - - - NULL GNAL 2774 genome.wustl.edu 37 18 11824922 11824922 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182978.2 +1 validated p.F210L 1.000 114 0% 222 40.5% 1 0% possibly_damaging(0.896) tolerated(0.78) neutral(0.354) HMMPfam_G-alpha,superfamily_Transducn_insert,superfamily_SSF52540 AFG3L2 10939 genome.wustl.edu 37 18 12337375 12337375 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006796.1 -1 reviewed p.A714T 0.015 197 0% 364 35.4% 28 32.1% benign(0) tolerated(0.2) neutral(0.049) HMMPfam_Peptidase_M41 SPIRE1 56907 genome.wustl.edu 37 18 12479730 12479730 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001128626.1 -1 validated p.T458A 0.852 168 0% 198 32.8% 7 28.5% benign(0.128) tolerated(0.06) neutral(0.333) NULL CEP76 79959 genome.wustl.edu 37 18 12697395 12697395 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024899.2 -1 provisional p.R178I 1.000 127 0% 239 33.5% 1 100% possibly_damaging(0.711) tolerated(0.06) deleterious(0.580) NULL PTPN2 5771 genome.wustl.edu 37 18 12836816 12836816 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002828.2 -1 reviewed p.A79T 1.000 411 0% 586 28.7% 6 50% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II SEH1L 81929 genome.wustl.edu 37 18 12984126 12984126 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001013437.1 +1 reviewed p.N336T 1.000 210 0% 311 29.6% 36 58.3% benign(0) tolerated(0.63) neutral(0.004) NULL FAM210A 125228 genome.wustl.edu 37 18 13681792 13681792 + Silent SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001098801.1 -1 validated p.V95 0.000 338 0% 467 34.3% 3 100% - - - NULL RNMT 8731 genome.wustl.edu 37 18 13741530 13741530 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003799.1 +1 provisional p.R272C 0.787 243 0% 272 36% 8 12.5% possibly_damaging(0.951) tolerated(0.07) deleterious(0.713) HMMPfam_Pox_MCEL,superfamily_S-adenosyl-L-methionine-dependent methyltransferases MC2R 4158 genome.wustl.edu 37 18 13885271 13885271 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000529.2 -1 reviewed p.L83M 1.000 150 0% 206 29.1% 0 - benign(0.264) tolerated(0.36) neutral(0.048) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ENSG00000252234 0 genome.wustl.edu 37 18 14118668 14118668 + RNA SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000516425 -1 novel NULL 0.012 51 0% 65 33.8% 0 - - - - - LOC646359 646359 genome.wustl.edu 37 18 14377602 14377602 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_929288.3 -1 model p.K387 1.000 92 0% 168 27.4% 0 - - - - HMMSmart_SM00717,superfamily_Homeodomain-like,HMMPfam_Myb_DNA-binding LOC646359 646359 genome.wustl.edu 37 18 14378685 14378685 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_929288.3 -1 model p.F26 0.002 25 0% 14 28.6% 0 - - - - NULL ANKRD30B 374860 genome.wustl.edu 37 18 14763733 14763733 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145029.1 +1 validated p.R290I 0.008 79 0% 92 29.3% 0 - possibly_damaging(0.951) tolerated(0.08) deleterious(0.694) NULL ENSG00000180777 0 genome.wustl.edu 37 18 14810129 14810129 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000320584 +1 known p.S135Y 0.002 209 0% 145 26.2% 0 - probably_damaging(0.964) deleterious(0) deleterious(0.851) NULL ENSG00000180777 0 genome.wustl.edu 37 18 14810149 14810149 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000320584 +1 known p.E142* 0.002 170 0% 105 28.6% 0 - - - - NULL ANKRD30B 374860 genome.wustl.edu 37 18 14850237 14850237 + Missense_Mutation SNP G G T rs9748833 byCluster;byFrequency;by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145029.1 +1 validated p.E1021D 0.976 49 0% 52 34.6% 1 0% probably_damaging(0.985) deleterious(0.02) deleterious(0.815) NULL ANKRD30B 374860 genome.wustl.edu 37 18 14851748 14851748 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145029.1 +1 validated p.V1150F 0.954 83 0% 120 23.3% 0 - probably_damaging(0.996) tolerated(0.69) neutral(0.464) NULL ROCK1 6093 genome.wustl.edu 37 18 18533611 18533611 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005406.2 -1 reviewed p.R1330Q 1.000 209 0% 326 37.4% 11 54.5% probably_damaging(0.975) deleterious(0.02) deleterious(0.800) NULL ROCK1 6093 genome.wustl.edu 37 18 18539847 18539847 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005406.2 -1 reviewed p.E1156K 1.000 162 0% 170 20% 10 30% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 ROCK1 6093 genome.wustl.edu 37 18 18546980 18546980 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005406.2 -1 reviewed p.E1084* 1.000 223 0% 317 35% 5 40% - - - NULL ROCK1 6093 genome.wustl.edu 37 18 18547829 18547829 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005406.2 -1 reviewed p.D1026Y 1.000 284 0.4% 400 31% 7 14.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ROCK1 6093 genome.wustl.edu 37 18 18547865 18547865 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005406.2 -1 reviewed p.D1014Y 1.000 216 0% 260 31.9% 3 0% probably_damaging(0.974) deleterious(0) deleterious(0.861) HMMPfam_Rho_Binding GREB1L 80000 genome.wustl.edu 37 18 18975357 18975357 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142966.1 +1 provisional p.A123T 1.000 113 0% 193 25.4% 0 - unknown(0) deleterious(0) - NULL ESCO1 114799 genome.wustl.edu 37 18 19140927 19140927 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_052911.2 -1 validated p.A616T 1.000 174 0% 212 27.4% 6 66.6% possibly_damaging(0.661) tolerated(0.06) deleterious(0.556) NULL ESCO1 114799 genome.wustl.edu 37 18 19153644 19153644 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_052911.2 -1 validated p.K387N 1.000 131 0% 187 35.8% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ESCO1 114799 genome.wustl.edu 37 18 19154775 19154775 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_052911.2 -1 validated p.E10D 1.000 191 0% 285 31.9% 0 - probably_damaging(0.955) deleterious(0.05) deleterious(0.744) NULL MIB1 57534 genome.wustl.edu 37 18 19345793 19345793 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020774.2 +1 validated p.R97Q 1.000 90 0% 175 31.4% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_ZZ,HMMSmart_ZnF_ZZ,PatternScan_ZF_ZZ_1 MIB1 57534 genome.wustl.edu 37 18 19345880 19345880 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020774.2 +1 validated p.R126Q 1.000 121 0% 213 36.2% 2 50% probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL GATA6 2627 genome.wustl.edu 37 18 19762767 19762767 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005257.3 +1 validated p.R493Q 1.000 136 0% 188 26.6% 8 37.5% unknown(0) deleterious(0) - superfamily_Glucocorticoid receptor-like (DNA-binding domain) CTAGE1 64693 genome.wustl.edu 37 18 19995616 19995616 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_172241.2 -1 validated p.R720I 0.021 84 0% 146 37% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL CTAGE1 64693 genome.wustl.edu 37 18 19995860 19995860 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_172241.2 -1 validated p.L639I 0.383 110 0% 130 30% 0 - benign(0.007) tolerated(0.07) neutral(0.319) NULL CTAGE1 64693 genome.wustl.edu 37 18 19996515 19996515 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_172241.2 -1 validated p.K420N 0.002 125 0% 120 33.3% 0 - benign(0) tolerated(0.68) neutral(0.002) NULL CTAGE1 64693 genome.wustl.edu 37 18 19997471 19997471 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_172241.2 -1 validated p.E102K 0.034 135 0% 205 65.9% 0 - possibly_damaging(0.58) tolerated(0.12) neutral(0.460) NULL CTAGE1 64693 genome.wustl.edu 37 18 19997691 19997691 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_172241.2 -1 validated p.F28L 0.010 328 0.3% 472 33.3% 0 - benign(0.028) deleterious(0.04) neutral(0.350) NULL NPC1 4864 genome.wustl.edu 37 18 21124483 21124483 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000271.4 -1 reviewed p.S652L 1.000 117 0.9% 209 30.6% 7 42.8% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Patched,superfamily_SSF82866 LAMA3 3909 genome.wustl.edu 37 18 21402321 21402321 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198129.1 +1 reviewed p.T804P 0.883 178 0% 196 40.8% 2 0% benign(0.372) tolerated(0.24) neutral(0.156) NULL LAMA3 3909 genome.wustl.edu 37 18 21501419 21501419 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198129.1 +1 reviewed p.Q2683K 0.001 133 0% 192 32.3% 7 14.2% benign(0.055) tolerated(1) neutral(0.004) HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 LAMA3 3909 genome.wustl.edu 37 18 21513771 21513771 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198129.1 +1 reviewed p.D2912Y 0.047 268 0% 359 11.4% 9 22.2% probably_damaging(0.992) deleterious(0) deleterious(0.892) superfamily_Concanavalin A-like lectins/glucanases TTC39C 125488 genome.wustl.edu 37 18 21644103 21644103 + Splice_Site SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001135993.1 +1 validated e2-1 1.000 343 0% 448 33.5% 0 - - - - - TTC39C 125488 genome.wustl.edu 37 18 21644127 21644127 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001135993.1 +1 validated p.F64C 1.000 390 0% 493 40.8% 1 100% probably_damaging(0.983) tolerated(0.12) deleterious(0.690) HMMPfam_Deme6 TTC39C 125488 genome.wustl.edu 37 18 21705398 21705398 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001135993.1 +1 validated p.R435Q 1.000 154 0% 202 33.7% 12 33.3% benign(0.061) tolerated(0.37) neutral(0.023) HMMPfam_Deme6,superfamily_TPR-like OSBPL1A 114876 genome.wustl.edu 37 18 21759717 21759717 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_080597.2 -1 reviewed p.T632I 1.000 135 0% 213 26.3% 5 20% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Oxysterol_BP OSBPL1A 114876 genome.wustl.edu 37 18 21819200 21819200 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_080597.2 -1 reviewed p.F476L 1.000 224 0% 259 27.8% 2 0% benign(0.232) deleterious(0.01) neutral(0.429) NULL IMPACT 55364 genome.wustl.edu 37 18 22020541 22020541 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018439.3 +1 validated p.S150L 0.000 215 0% 311 36.7% 10 70% benign(0.121) tolerated(0.34) neutral(0.033) NULL IMPACT 55364 genome.wustl.edu 37 18 22029882 22029882 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018439.3 +1 validated p.N287H 1.000 153 0% 223 29.6% 9 22.2% probably_damaging(0.992) deleterious(0.04) deleterious(0.796) HMMPfam_UPF0029,superfamily_Ribosomal protein S5 domain 2-like TAF4B 6875 genome.wustl.edu 37 18 23847569 23847569 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005640.1 +1 validated p.P193 0.148 103 0% 235 31.5% 0 - - - - NULL TAF4B 6875 genome.wustl.edu 37 18 23865964 23865964 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005640.1 +1 validated p.S364Y 0.863 84 0% 96 37.5% 1 0% benign(0.293) deleterious(0.01) deleterious(0.496) NULL TAF4B 6875 genome.wustl.edu 37 18 23906992 23906992 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005640.1 +1 validated p.Y716C 1.000 195 0% 364 32.7% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TAF4 KCTD1 284252 genome.wustl.edu 37 18 24039876 24039876 + Nonsense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142730.1 -1 validated p.L716* 1.000 50 0% 81 33.3% 17 5.8% - - - HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_POZ domain DSC3 1825 genome.wustl.edu 37 18 28605805 28605805 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001941.3 -1 reviewed p.N184T 0.999 154 0% 97 38.1% 2 50% probably_damaging(0.998) deleterious(0.05) deleterious(0.820) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like DSC3 1825 genome.wustl.edu 37 18 28609589 28609589 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001941.3 -1 reviewed p.S120 0.003 112 0% 109 29.4% 2 100% - - - superfamily_Cadherin-like DSC1 1823 genome.wustl.edu 37 18 28714741 28714741 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024421.2 -1 reviewed p.R557Q 1.000 134 0% 120 26.7% 0 - probably_damaging(0.998) deleterious(0.05) deleterious(0.820) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like DSC1 1823 genome.wustl.edu 37 18 28728519 28728519 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024421.2 -1 reviewed p.N238 1.000 268 0.4% 334 34.1% 0 - - - - HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like DSC1 1823 genome.wustl.edu 37 18 28736074 28736074 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024421.2 -1 reviewed p.R135* 0.993 157 0% 263 31.2% 0 - - - - superfamily_Cadherin-like DSG1 1828 genome.wustl.edu 37 18 28911707 28911707 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001942.2 +1 reviewed p.P187 1.000 137 0% 85 32.9% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like DSG1 1828 genome.wustl.edu 37 18 28919769 28919769 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001942.2 +1 reviewed p.D490N 0.000 126 0% 160 32.5% 0 - benign(0.005) tolerated(0.81) neutral(0.001) HMMSmart_SM00112 DSG4 147409 genome.wustl.edu 37 18 28972152 28972152 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001134453.1 +1 reviewed p.S285L 0.997 251 0% 191 30.9% 0 - probably_damaging(0.994) tolerated(0.18) deleterious(0.508) HMMPfam_Cadherin,superfamily_Cadherin DSG4 147409 genome.wustl.edu 37 18 28980878 28980878 + Nonsense_Mutation SNP A A T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001134453.1 +1 reviewed p.K438* 1.000 113 0.9% 68 25% 0 - - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin DSG3 1830 genome.wustl.edu 37 18 29041200 29041200 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001944.2 +1 reviewed p.R275H 0.000 165 0% 135 34.8% 0 - benign(0.007) tolerated(0.16) neutral(0.059) HMMPfam_Cadherin,superfamily_Cadherin DSG3 1830 genome.wustl.edu 37 18 29055684 29055684 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001944.2 +1 reviewed p.A821T 0.000 291 0% 427 30.7% 1 0% benign(0.012) tolerated(0.59) neutral(0.005) NULL DSG3 1830 genome.wustl.edu 37 18 29056132 29056132 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001944.2 +1 reviewed p.S970Y 0.156 124 0% 189 28.6% 0 - possibly_damaging(0.921) tolerated(0.12) deleterious(0.631) NULL DSG2 1829 genome.wustl.edu 37 18 29126100 29126100 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001943.3 +1 reviewed p.A917 0.004 72 0% 94 35.1% 49 61.2% - - - NULL FAM59A 64762 genome.wustl.edu 37 18 29890200 29890200 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022751.1 -1 provisional p.P117S 1.000 268 0% 356 36.8% 1 100% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL ASXL3 80816 genome.wustl.edu 37 18 31318522 31318522 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030632.1 +1 provisional p.S385Y 0.976 150 0% 112 35.7% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL ASXL3 80816 genome.wustl.edu 37 18 31319774 31319774 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030632.1 +1 provisional p.K802N 0.005 95 0% 78 26.9% 0 - benign(0.002) deleterious(0) neutral(0.445) NULL NOL4 8715 genome.wustl.edu 37 18 31803205 31803205 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003787.3 -1 validated p.R5C 1.000 123 0.8% 96 29.2% 0 - possibly_damaging(0.886) deleterious(0.02) deleterious(0.730) NULL DTNA 1837 genome.wustl.edu 37 18 32418116 32418116 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001390.4 +1 reviewed p.A385S 0.858 218 0% 169 36.1% 0 - benign(0) tolerated(0.77) neutral(0.001) NULL ZSCAN30 100101467 genome.wustl.edu 37 18 32844238 32844238 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001112734.2 -1 validated p.E27* 0.951 38 0% 30 40% 2 50% - - - NULL ZNF24 7572 genome.wustl.edu 37 18 32917323 32917323 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006965.2 -1 validated p.R327I 1.000 200 0% 129 27.1% 7 42.8% benign(0.412) tolerated(0.1) neutral(0.419) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF396 252884 genome.wustl.edu 37 18 32949318 32949318 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145756.2 -1 validated p.R290Q 0.000 145 0% 207 35.7% 1 0% possibly_damaging(0.922) tolerated(0.41) neutral(0.387) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF396 252884 genome.wustl.edu 37 18 32949578 32949578 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145756.2 -1 validated p.K203N 0.016 188 0% 296 32.8% 2 50% probably_damaging(0.98) deleterious(0.04) deleterious(0.773) NULL GALNT1 2589 genome.wustl.edu 37 18 33263417 33263417 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020474.3 +1 reviewed p.R182* 1.000 196 0.5% 169 27.8% 12 0% - - - HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases ELP2 55250 genome.wustl.edu 37 18 33734888 33734888 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018255.1 +1 provisional p.E401* 1.000 227 0% 307 29.3% 20 10% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 FHOD3 80206 genome.wustl.edu 37 18 34092435 34092435 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025135.2 +1 validated p.A147D 1.000 277 0% 377 29.4% 0 - possibly_damaging(0.951) tolerated(0.24) neutral(0.431) superfamily_ARM-type_fold FHOD3 80206 genome.wustl.edu 37 18 34156465 34156465 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025135.2 +1 validated p.R188H 1.000 286 0% 415 35.4% 0 - benign(0) tolerated(1) - superfamily_ARM-type_fold FHOD3 80206 genome.wustl.edu 37 18 34298000 34298000 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025135.2 +1 validated p.Q738 1.000 87 0% 105 31.4% 0 - - - - NULL PIK3C3 5289 genome.wustl.edu 37 18 39576669 39576669 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002647.2 +1 validated p.R320I 1.000 118 0% 82 36.6% 4 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PI3Ka,HMMSmart_PI3Ka,superfamily_ARM-type_fold PIK3C3 5289 genome.wustl.edu 37 18 39609382 39609382 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002647.2 +1 validated p.E562K 1.000 217 0% 262 36.3% 10 30% possibly_damaging(0.469) tolerated(0.27) neutral(0.188) superfamily_Kinase_like PIK3C3 5289 genome.wustl.edu 37 18 39637885 39637885 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002647.2 +1 validated p.R768W 0.999 71 0% 75 34.7% 25 32% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_PI3_PI4_kinase,HMMSmart_PI3Kc,superfamily_Kinase_like PIK3C3 5289 genome.wustl.edu 37 18 39647367 39647367 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002647.2 +1 validated p.R847C 1.000 208 0.5% 284 36.3% 29 48.2% benign(0.276) deleterious(0.04) neutral(0.378) HMMSmart_PI3Kc,superfamily_Kinase_like SYT4 6860 genome.wustl.edu 37 18 40853645 40853645 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020783.3 -1 validated p.R250I 1.000 128 0% 91 19.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB SETBP1 26040 genome.wustl.edu 37 18 42533094 42533094 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015559.2 +1 validated p.Y1263* 1.000 135 0% 276 29.7% 0 - - - - NULL SLC14A2 8170 genome.wustl.edu 37 18 43204733 43204733 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007163.3 +1 validated p.P35L 1.000 88 0% 100 33% 0 - benign(0.014) tolerated(0.12) neutral(0.261) NULL SLC14A2 8170 genome.wustl.edu 37 18 43205689 43205689 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007163.3 +1 validated p.I64 0.912 102 0% 172 34.9% 0 - - - - NULL SLC14A2 8170 genome.wustl.edu 37 18 43224100 43224100 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007163.3 +1 validated p.S442 0.002 240 0% 403 33% 0 - - - - NULL ATP5A1 498 genome.wustl.edu 37 18 43669849 43669849 + Silent SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001001937.1 -1 reviewed p.P141 0.888 161 0% 466 31.8% 300 48% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases HAUS1 115106 genome.wustl.edu 37 18 43685234 43685234 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138443.3 +1 validated p.E35D 0.989 126 0% 284 30.6% 26 53.8% benign(0.001) tolerated(0.53) neutral(0.007) NULL C18orf25 147339 genome.wustl.edu 37 18 43796370 43796370 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145055.3 +1 validated p.R175Q 1.000 58 0% 99 37.4% 10 20% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL LOXHD1 125336 genome.wustl.edu 37 18 44140501 44140501 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144612.6 -1 reviewed p.A591V 1.000 23 0% 32 37.5% 0 - possibly_damaging(0.609) tolerated(0.5) neutral(0.221) HMMPfam_PLAT,superfamily_Lipase_LipOase LOXHD1 125336 genome.wustl.edu 37 18 44146327 44146327 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144612.6 -1 reviewed p.Q499R 1.000 60 0% 90 37.8% 0 - benign(0.008) tolerated(0.9) - HMMPfam_PLAT,HMMSmart_LH2,superfamily_Lipase_LipOase ST8SIA5 29906 genome.wustl.edu 37 18 44260332 44260332 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013305.4 -1 reviewed p.F268 1.000 66 1.5% 76 35.5% 0 - - - - HMMPfam_Glyco_transf_29 ST8SIA5 29906 genome.wustl.edu 37 18 44261939 44261939 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013305.4 -1 reviewed p.E220* 1.000 76 0% 114 25.4% 0 - - - - HMMPfam_Glyco_transf_29 PIAS2 9063 genome.wustl.edu 37 18 44426737 44426737 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004671.2 -1 validated p.S265Y 1.000 172 0% 203 26.1% 13 53.8% probably_damaging(0.98) tolerated(0.06) deleterious(0.746) NULL PIAS2 9063 genome.wustl.edu 37 18 44470595 44470595 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004671.2 -1 validated p.K149N 1.000 102 0% 193 32.1% 8 50% probably_damaging(0.989) deleterious(0.04) deleterious(0.788) NULL TCEB3B 51224 genome.wustl.edu 37 18 44560023 44560023 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016427.2 -1 reviewed p.R538I 0.000 65 0% 88 33% 1 0% benign(0.349) tolerated(0.16) neutral(0.170) NULL TCEB3B 51224 genome.wustl.edu 37 18 44561554 44561554 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016427.2 -1 reviewed p.E28* 0.000 234 0% 372 28% 0 - - - - HMMSmart_TFS2N,HMMPfam_TFIIS KATNAL2 83473 genome.wustl.edu 37 18 44595969 44595969 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031303.2 +1 validated p.R264W 1.000 115 0% 137 36.5% 5 80% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_AAA,HMMPfam_AAA,superfamily_SSF52540 SMAD2 4087 genome.wustl.edu 37 18 45422958 45422958 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001003652.2 -1 reviewed p.R57Q 1.000 545 0% 612 33.5% 21 42.8% benign(0) tolerated(0.79) neutral(0.001) HMMPfam_MH1,HMMSmart_SM00523,superfamily_SMAD MH1 domain ZBTB7C 201501 genome.wustl.edu 37 18 45566720 45566720 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001039360.1 -1 validated p.P253 0.034 53 0% 51 45.1% 3 100% - - - NULL SMAD7 4092 genome.wustl.edu 37 18 46447873 46447873 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005904.2 -1 provisional p.E384K 1.000 94 1.1% 125 32% 24 29.1% possibly_damaging(0.659) tolerated(0.67) neutral(0.235) HMMPfam_MH2,HMMSmart_DWB,superfamily_SMAD_FHA DYM 54808 genome.wustl.edu 37 18 46645263 46645263 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017653.3 -1 reviewed p.R533* 1.000 269 0% 426 27.7% 27 7.4% - - - HMMPfam_Dymeclin DYM 54808 genome.wustl.edu 37 18 46904951 46904951 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017653.3 -1 reviewed p.S136Y 1.000 136 0% 100 32% 5 20% benign(0.011) tolerated(0.1) neutral(0.287) HMMPfam_Dymeclin DYM 54808 genome.wustl.edu 37 18 46906063 46906063 + Nonsense_Mutation SNP C C A rs120074164 TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017653.3 -1 reviewed p.E87* 1.000 205 0% 185 25.9% 5 20% - - - HMMPfam_Dymeclin RPL17 6139 genome.wustl.edu 37 18 47017231 47017231 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000985.3 -1 reviewed p.D50Y 1.000 95 0% 239 28% 1636 41.1% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Ribosomal_L22,superfamily_Ribosomal protein L22 LIPG 9388 genome.wustl.edu 37 18 47113180 47113180 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006033.2 +1 reviewed p.R481C 0.778 188 0% 273 31.5% 9 33.3% benign(0.339) deleterious(0.01) deleterious(0.513) HMMPfam_PLAT,HMMSmart_SM00308,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain) CCDC11 220136 genome.wustl.edu 37 18 47764984 47764984 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145020.3 -1 validated p.E435D 0.221 353 0% 536 31.7% 0 - benign(0.018) tolerated(0.06) neutral(0.323) NULL SKA1 220134 genome.wustl.edu 37 18 47918600 47918600 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001039535.2 +1 validated p.R251C 1.000 86 0% 87 42.5% 10 40% probably_damaging(1) deleterious(0) deleterious(0.945) NULL MAPK4 5596 genome.wustl.edu 37 18 48190709 48190709 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002747.3 +1 reviewed p.K127N 1.000 41 0% 46 34.8% 0 - possibly_damaging(0.658) deleterious(0.05) deleterious(0.578) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase SMAD4 4089 genome.wustl.edu 37 18 48573437 48573437 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005359.5 +1 reviewed p.T7 0.665 117 0.9% 218 32.6% 12 50% - - - NULL DCC 1630 genome.wustl.edu 37 18 50450079 50450079 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005215.3 +1 reviewed p.P234T 1.000 157 0% 115 33.9% 0 - benign(0.001) tolerated(0.81) neutral(0.001) NULL DCC 1630 genome.wustl.edu 37 18 50683764 50683764 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005215.3 +1 reviewed p.D434N 1.000 310 0% 316 24.7% 0 - possibly_damaging(0.827) tolerated(0.11) deleterious(0.586) HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III DCC 1630 genome.wustl.edu 37 18 50977007 50977007 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005215.3 +1 reviewed p.R1123* 1.000 171 0% 174 27% 0 - - - - HMMPfam_Neogenin_C MBD2 8932 genome.wustl.edu 37 18 51692488 51692488 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003927.3 -1 reviewed p.E297* 1.000 425 0% 409 34% 77 12.9% - - - NULL POLI 11201 genome.wustl.edu 37 18 51820370 51820370 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007195.2 +1 validated p.D586N 0.008 111 0% 121 35.5% 7 14.2% benign(0.002) tolerated(0.07) neutral(0.319) NULL STARD6 147323 genome.wustl.edu 37 18 51851238 51851238 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_139171.1 -1 provisional p.A163T 0.987 252 0% 301 28.9% 0 - possibly_damaging(0.49) tolerated(0.69) neutral(0.165) HMMPfam_START,HMMSmart_START,superfamily_SSF55961 CCDC68 80323 genome.wustl.edu 37 18 52585176 52585176 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001143829.1 -1 validated p.L281I 1.000 345 0% 476 26.3% 4 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL TCF4 6925 genome.wustl.edu 37 18 53017619 53017619 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001083962.1 -1 reviewed p.R174* 1.000 239 0% 208 30.8% 3 33.3% - - - NULL WDR7 23335 genome.wustl.edu 37 18 54363622 54363622 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015285.2 +1 reviewed p.E503* 1.000 218 0% 354 31.9% 0 - - - - HMMSmart_SM00320,superfamily_Prolyl oligopeptidase N-terminal domain ONECUT2 9480 genome.wustl.edu 37 18 55104096 55104096 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004852.2 +1 reviewed p.S383F 1.000 32 0% 25 44% 1 100% probably_damaging(0.986) deleterious(0) deleterious(0.879) HMMPfam_CUT FECH 2235 genome.wustl.edu 37 18 55238743 55238743 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001012515.2 -1 reviewed p.R121Q 1.000 172 0% 327 40.1% 10 40% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ferrochelatase,superfamily_Chelatase NARS 4677 genome.wustl.edu 37 18 55274646 55274646 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000411676 -1 known p.K277N 0.000 60 0% 126 34.9% 0 - possibly_damaging(0.952) - - NULL ATP8B1 5205 genome.wustl.edu 37 18 55319904 55319904 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005603.4 -1 reviewed p.D1025Y 1.000 50 0% 120 35.8% 10 10% possibly_damaging(0.948) deleterious(0.01) deleterious(0.796) superfamily_SSF81665 ATP8B1 5205 genome.wustl.edu 37 18 55336595 55336595 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005603.4 -1 reviewed p.D684 0.736 157 0% 185 42.7% 10 30% - - - superfamily_SSF56784,superfamily_SSF81660,superfamily_SSF81665 NEDD4L 23327 genome.wustl.edu 37 18 56033419 56033419 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001144967.1 +1 validated p.E674D 1.000 245 0% 288 29.9% 8 37.5% probably_damaging(0.996) tolerated(0.06) deleterious(0.784) HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain ALPK2 115701 genome.wustl.edu 37 18 56202272 56202272 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_052947.3 -1 validated p.E1716A 0.928 226 0% 272 32.4% 1 0% benign(0.057) deleterious(0.04) neutral(0.352) NULL ALPK2 115701 genome.wustl.edu 37 18 56204037 56204037 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_052947.3 -1 validated p.E1128* 0.145 144 0% 167 34.1% 0 - - - - NULL ALPK2 115701 genome.wustl.edu 37 18 56204858 56204858 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_052947.3 -1 validated p.S854Y 0.004 123 0% 158 23.4% 0 - possibly_damaging(0.92) deleterious(0) deleterious(0.816) NULL ALPK2 115701 genome.wustl.edu 37 18 56247069 56247069 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_052947.3 -1 validated p.E313D 1.000 173 0% 191 34% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL ALPK2 115701 genome.wustl.edu 37 18 56274592 56274592 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_052947.3 -1 validated p.F63L 1.000 122 0% 127 35.4% 0 - benign(0.002) tolerated(0.81) neutral(0.001) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin MALT1 10892 genome.wustl.edu 37 18 56402496 56402496 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006785.2 +1 reviewed p.K513T 1.000 51 0% 82 37.8% 9 44.4% benign(0.032) tolerated(0.13) neutral(0.254) HMMPfam_Peptidase_C14,superfamily_Caspase-like ZNF532 55205 genome.wustl.edu 37 18 56620801 56620801 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018181.4 +1 validated p.N974H 1.000 114 0% 210 27.6% 4 50% benign(0.049) tolerated(0.06) neutral(0.326) NULL RAX 30062 genome.wustl.edu 37 18 56939764 56939764 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013435.2 -1 reviewed p.A124 0.000 105 0% 188 31.9% 0 - - - - NULL CPLX4 339302 genome.wustl.edu 37 18 56964043 56964043 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_181654.3 -1 reviewed p.L124I 0.995 286 0% 338 37.6% 0 - possibly_damaging(0.794) tolerated(0.16) neutral(0.357) NULL CPLX4 339302 genome.wustl.edu 37 18 56979968 56979968 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_181654.3 -1 reviewed p.A68 0.528 212 0% 230 27.4% 0 - - - - NULL LMAN1 3998 genome.wustl.edu 37 18 57013266 57013266 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005570.3 -1 reviewed p.E280D 1.000 272 0% 274 37.6% 38 63.1% benign(0.001) tolerated(0.6) neutral(0.004) NULL LMAN1 3998 genome.wustl.edu 37 18 57016437 57016437 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005570.3 -1 reviewed p.K224T 1.000 205 0% 267 29.6% 43 48.8% probably_damaging(0.997) tolerated(0.19) deleterious(0.516) HMMPfam_Lectin_leg-like,superfamily_ConA_like_lec_gl RNF152 220441 genome.wustl.edu 37 18 59483497 59483497 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173557.2 -1 validated p.S67L 1.000 137 0% 164 28.7% 0 - possibly_damaging(0.916) deleterious(0.01) deleterious(0.772) superfamily_SSF57850 PIGN 23556 genome.wustl.edu 37 18 59763145 59763145 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012327.5 -1 reviewed p.L706I 0.420 137 0% 143 34.3% 8 25% benign(0.353) deleterious(0.05) neutral(0.457) HMMPfam_PigN TNFRSF11A 8792 genome.wustl.edu 37 18 60051984 60051984 + Missense_Mutation SNP G G T rs150973326 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003839.2 +1 reviewed p.G523V 1.000 34 0% 64 34.4% 0 - benign(0.093) deleterious(0.02) neutral(0.390) NULL ZCCHC2 54877 genome.wustl.edu 37 18 60241348 60241348 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017742.4 +1 validated p.Y678 0.842 190 0% 279 30.1% 5 60% - - - NULL PHLPP1 23239 genome.wustl.edu 37 18 60642763 60642763 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_194449.2 +1 validated p.R785* 1.000 138 0% 228 36% 4 25% - - - HMMSmart_SM00332,superfamily_Protein serine/threonine phosphatase 2C catalytic domain,HMMPfam_PP2C PHLPP1 23239 genome.wustl.edu 37 18 60646446 60646446 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_194449.2 +1 validated p.R1134* 0.998 36 0% 41 31.7% 12 66.6% - - - NULL SERPINB5 5268 genome.wustl.edu 37 18 61156657 61156657 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002639.4 +1 validated p.T128 0.097 179 0% 267 29.2% 4 25% - - - HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins SERPINB5 5268 genome.wustl.edu 37 18 61170842 61170842 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002639.4 +1 validated p.A339T 0.959 152 0% 157 38.2% 7 42.8% benign(0) tolerated(0.41) neutral(0.015) HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins SERPINB4 6318 genome.wustl.edu 37 18 61306940 61306940 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000413673 -1 known p.S182Y 0.992 297 0% 139 28.8% 0 - - - - HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins SERPINB3 6317 genome.wustl.edu 37 18 61324563 61324563 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006919.2 -1 validated p.Q185* 0.429 245 0% 137 32.1% 0 - - - - HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins SERPINB7 8710 genome.wustl.edu 37 18 61449773 61449773 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001040147.1 +1 validated p.K56T 1.000 89 0% 121 33.9% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin SERPINB7 8710 genome.wustl.edu 37 18 61465947 61465947 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001040147.1 +1 validated p.S188 0.000 172 0% 193 23.8% 0 - - - - HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin SERPINB2 5055 genome.wustl.edu 37 18 61562564 61562564 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001143818.1 +1 validated p.C79G 0.409 295 0% 293 31.4% 0 - benign(0.001) tolerated(0.08) neutral(0.300) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin CDH7 1005 genome.wustl.edu 37 18 63477219 63477219 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004361.2 +1 reviewed p.E164K 1.000 24 0% 27 37% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,superfamily_Cadherin-like CDH19 28513 genome.wustl.edu 37 18 64172353 64172353 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021153.2 -1 reviewed p.K672T 0.000 273 0% 132 28% 0 - possibly_damaging(0.619) deleterious(0.02) deleterious(0.599) HMMPfam_Cadherin_C CDH19 28513 genome.wustl.edu 37 18 64197181 64197181 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021153.2 -1 reviewed p.S453 0.010 120 0% 92 29.3% 0 - - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin CDH19 28513 genome.wustl.edu 37 18 64211982 64211982 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021153.2 -1 reviewed p.Q312K 1.000 216 0% 258 32.6% 0 - probably_damaging(0.988) tolerated(0.1) deleterious(0.724) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin DSEL 92126 genome.wustl.edu 37 18 65178924 65178924 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032160.2 -1 validated p.M984I 0.998 43 0% 37 24.3% 0 - benign(0) tolerated(0.67) neutral(0.003) superfamily_P-loop containing nucleoside triphosphate hydrolases DSEL 92126 genome.wustl.edu 37 18 65180024 65180024 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032160.2 -1 validated p.D618Y 1.000 61 0% 40 30% 0 - probably_damaging(1) deleterious(0.05) deleterious(0.845) NULL CCDC102B 79839 genome.wustl.edu 37 18 66504386 66504386 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001093729.1 +1 validated p.M129T 0.561 113 0% 166 22.9% 0 - benign(0.315) tolerated(0.68) neutral(0.101) NULL CCDC102B 79839 genome.wustl.edu 37 18 66504496 66504496 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001093729.1 +1 validated p.E166* 0.000 83 0% 136 34.6% 0 - - - - NULL CCDC102B 79839 genome.wustl.edu 37 18 66721304 66721304 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001093729.1 +1 validated p.R491M 0.944 121 0% 82 32.9% 3 0% possibly_damaging(0.926) deleterious(0) deleterious(0.819) NULL CD226 10666 genome.wustl.edu 37 18 67563239 67563239 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006566.2 -1 reviewed p.S142L 0.175 76 0% 145 31.7% 2 50% possibly_damaging(0.643) deleterious(0.04) deleterious(0.575) HMMPfam_V-set,superfamily_SSF48726 RTTN 25914 genome.wustl.edu 37 18 67671452 67671452 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173630.3 -1 validated p.N2206H 0.700 385 0% 421 32.1% 22 31.8% possibly_damaging(0.476) tolerated(0.2) neutral(0.206) NULL RTTN 25914 genome.wustl.edu 37 18 67727135 67727135 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173630.3 -1 validated p.D1631Y 0.602 229 0% 390 32.6% 4 50% possibly_damaging(0.712) tolerated(0.41) neutral(0.273) NULL RTTN 25914 genome.wustl.edu 37 18 67802496 67802496 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173630.3 -1 validated p.D937Y 0.988 123 0% 77 27.3% 1 0% probably_damaging(0.956) deleterious(0.01) deleterious(0.805) NULL FBXO15 201456 genome.wustl.edu 37 18 71793239 71793239 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142958.1 -1 reviewed p.H295Y 0.000 130 0% 174 33.9% 1 0% benign(0.29) tolerated(0.08) neutral(0.389) NULL FBXO15 201456 genome.wustl.edu 37 18 71793310 71793310 + Missense_Mutation SNP T T A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142958.1 -1 reviewed p.K271M 0.949 134 0% 144 31.9% 0 - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL FAM69C 125704 genome.wustl.edu 37 18 72109276 72109276 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001044369.2 -1 validated p.D318Y 0.993 139 0% 208 21.6% 5 0% probably_damaging(0.998) deleterious(0.04) deleterious(0.823) NULL CNDP1 84735 genome.wustl.edu 37 18 72244107 72244107 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032649.5 +1 reviewed p.S282N 1.000 374 0% 592 30.4% 0 - benign(0.249) tolerated(0.17) neutral(0.084) HMMPfam_Peptidase_M20,HMMPfam_M20_dimer,superfamily_Bacterial exopeptidase dimerisation domain,superfamily_Zn-dependent exopeptidases CNDP1 84735 genome.wustl.edu 37 18 72247400 72247400 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032649.5 +1 reviewed p.R401I 0.960 185 0% 245 33.9% 0 - probably_damaging(0.972) tolerated(0.07) deleterious(0.733) HMMPfam_Peptidase_M20,HMMPfam_M20_dimer,superfamily_Zn-dependent exopeptidases ZNF407 55628 genome.wustl.edu 37 18 72346223 72346223 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017757.2 +1 reviewed p.V1083A 0.001 56 0% 88 31.8% 4 25% benign(0.054) deleterious(0) neutral(0.448) NULL ZNF516 9658 genome.wustl.edu 37 18 74092048 74092048 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000443185 -1 known p.K674N 0.502 129 0% 209 33% 12 8.3% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL MBP 4155 genome.wustl.edu 37 18 74696792 74696792 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001025101.1 -1 reviewed p.S270L 0.998 126 0% 149 30.2% 1 0% possibly_damaging(0.794) tolerated(0.17) neutral(0.357) HMMPfam_Myelin_MBP SALL3 27164 genome.wustl.edu 37 18 76757088 76757088 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_171999.2 +1 validated p.L1223 0.274 72 0% 76 22.4% 0 - - - - NULL ADNP2 22850 genome.wustl.edu 37 18 77893890 77893890 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014913.3 +1 validated p.P198 0.000 128 0% 222 38.7% 11 54.5% - - - NULL ADNP2 22850 genome.wustl.edu 37 18 77895733 77895733 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014913.3 +1 validated p.D813N 0.988 89 0% 149 32.2% 14 50% probably_damaging(0.992) deleterious(0.02) deleterious(0.831) NULL SHC2 25759 genome.wustl.edu 37 19 436216 436216 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012435.2 -1 validated p.R301H 1.000 33 0% 48 33.3% 16 6.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PID,HMMSmart_PTB,superfamily_SSF50729 ODF3L2 284451 genome.wustl.edu 37 19 467752 467752 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182577.2 -1 validated p.Q82H 0.403 83 0% 187 24.1% 0 - probably_damaging(0.961) tolerated(0.11) deleterious(0.675) NULL MADCAM1 8174 genome.wustl.edu 37 19 498581 498581 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_130760.2 +1 reviewed p.P141 0.000 24 0% 42 45.2% 1 0% - - - HMMPfam_Adhes-Ig_like,superfamily_Immunoglobulin GZMM 3004 genome.wustl.edu 37 19 547338 547338 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005317.2 +1 reviewed p.P38 0.001 15 0% 27 37% 1 0% - - - HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases WDR18 57418 genome.wustl.edu 37 19 991240 991240 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024100.3 +1 reviewed p.C274R 1.000 29 0% 39 35.9% 132 41.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 ABCA7 10347 genome.wustl.edu 37 19 1041399 1041399 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019112.3 +1 reviewed p.K13N 1.000 98 0% 175 30.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ABCA7 10347 genome.wustl.edu 37 19 1048932 1048932 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019112.3 +1 reviewed p.R770W 0.985 45 0% 67 26.9% 0 - probably_damaging(0.994) deleterious(0.03) deleterious(0.817) NULL ABCA7 10347 genome.wustl.edu 37 19 1051163 1051163 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019112.3 +1 reviewed p.V898 1.000 64 0% 94 40.4% 1 0% - - - HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCA7 10347 genome.wustl.edu 37 19 1063824 1063824 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019112.3 +1 reviewed p.V1971 0.998 51 0% 46 37% 3 66.6% - - - HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases HMHA1 23526 genome.wustl.edu 37 19 1080497 1080497 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012292.2 +1 validated p.P621 0.002 23 0% 35 37.1% 10 0% - - - NULL C19orf26 255057 genome.wustl.edu 37 19 1235858 1235858 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152769.2 -1 validated p.F49 0.016 82 0% 137 38% 2 50% - - - NULL ATP5D 513 genome.wustl.edu 37 19 1244149 1244149 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001001975.1 +1 reviewed p.E117K 0.997 36 0% 70 40% 453 28.6% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_ATP-synt_DE_N,superfamily_ATPsynt_DE CIRBP-AS1 148046 genome.wustl.edu 37 19 1268376 1268376 + Nonstop_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000436371 -1 known p.*110W 0.000 72 0% 94 28.7% 1 100% - - - NULL DAZAP1 26528 genome.wustl.edu 37 19 1421251 1421251 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018959.2 +1 reviewed p.F136 0.424 102 0% 214 32.2% 87 33.3% - - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD KLF16 83855 genome.wustl.edu 37 19 1854677 1854677 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031918.3 -1 validated p.T180 0.608 38 0% 38 36.8% 18 55.5% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 MOB3A 126308 genome.wustl.edu 37 19 2076855 2076855 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_130807.2 -1 validated p.F193 0.988 29 0% 75 29.3% 16 25% - - - HMMPfam_Mob1_phocein,superfamily_Mob1_phocein IZUMO4 113177 genome.wustl.edu 37 19 2098125 2098125 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001039846.1 +1 validated p.E158K 1.000 57 0% 90 38.9% 3 33.3% benign(0) tolerated(0.42) neutral(0.014) NULL IZUMO4 113177 genome.wustl.edu 37 19 2098294 2098294 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001039846.1 +1 validated p.A161V 0.001 96 0% 131 35.1% 4 25% benign(0) tolerated(0.07) neutral(0.319) NULL ENSG00000005206 0 genome.wustl.edu 37 19 2351500 2351500 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000452401 +1 known p.L474I 1.000 44 0% 67 41.8% 91 38.4% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00730,HMMPfam_Peptidase_A22B TMPRSS9 360200 genome.wustl.edu 37 19 2416621 2416621 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182973.1 +1 provisional p.R577W 0.000 22 0% 53 34% 2 50% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases DIRAS1 148252 genome.wustl.edu 37 19 2717728 2717728 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145173.3 -1 validated p.R26H 1.000 33 0% 47 38.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_RAS,HMMPfam_Ras,superfamily_SSF52540 THOP1 7064 genome.wustl.edu 37 19 2794856 2794856 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003249.3 +1 provisional p.F108 0.329 123 0% 216 40.3% 55 54.5% - - - superfamily_SSF55486 ZNF554 115196 genome.wustl.edu 37 19 2834799 2834799 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001102651.1 +1 validated p.I522 0.000 43 0% 64 25% 15 33.3% - - - NULL ZNF555 148254 genome.wustl.edu 37 19 2852877 2852877 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152791.4 +1 validated p.R272* 0.008 100 0% 162 37.7% 7 71.4% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF57 126295 genome.wustl.edu 37 19 2916921 2916921 + Splice_Site SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173480.2 +1 validated e4-1 0.001 50 0% 79 39.2% 1 100% - - - - ZNF57 126295 genome.wustl.edu 37 19 2917020 2917020 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173480.2 +1 validated p.S134Y 0.000 93 0% 156 35.9% 6 16.6% benign(0.221) tolerated(0.09) neutral(0.319) superfamily_C2H2 and C2HC zinc fingers GNA11 2767 genome.wustl.edu 37 19 3121094 3121094 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002067.2 +1 validated p.D333N 1.000 41 0% 79 30.4% 26 34.6% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_G-alpha,superfamily_SSF52540 NFIC 4782 genome.wustl.edu 37 19 3456581 3456581 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_205843.1 +1 validated p.R477H 1.000 97 0% 148 31.1% 2 0% unknown(0) deleterious(0) - HMMPfam_CTF_NFI GIPC3 126326 genome.wustl.edu 37 19 3589487 3589487 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_133261.2 +1 validated p.A213 0.070 64 0% 99 40.4% 0 - - - - NULL APBA3 9546 genome.wustl.edu 37 19 3760231 3760231 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004886.3 -1 reviewed p.S11L 0.001 21 0% 40 42.5% 14 35.7% benign(0) deleterious(0) neutral(0.445) NULL ZFR2 23217 genome.wustl.edu 37 19 3852363 3852363 + RNA SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NR_027149.1 -1 validated NULL 0.005 22 0% 33 42.4% 13 76.9% - - - - DAPK3 1613 genome.wustl.edu 37 19 3964803 3964803 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001348.1 -1 reviewed p.F83 0.966 90 0% 179 35.8% 106 42.4% - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase EEF2 1938 genome.wustl.edu 37 19 3979938 3979938 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001961.3 -1 reviewed p.A491 0.899 33 0% 54 42.6% 2694 42.8% - - - superfamily_Translation proteins ANKRD24 170961 genome.wustl.edu 37 19 4216979 4216979 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_133475.1 +1 provisional p.E608* 0.056 48 0% 180 32.8% 1 0% - - - NULL CHAF1A 10036 genome.wustl.edu 37 19 4418031 4418031 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005483.2 +1 validated p.F325 0.027 139 0% 265 28.7% 9 66.6% - - - NULL CHAF1A 10036 genome.wustl.edu 37 19 4428801 4428801 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005483.2 +1 validated p.F506L 0.024 45 0% 49 38.8% 19 42.1% benign(0.002) tolerated(0.83) neutral(0.001) NULL HDGFRP2 84717 genome.wustl.edu 37 19 4497986 4497986 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001001520.1 +1 reviewed p.S454A 0.999 28 0% 73 47.9% 143 40.5% possibly_damaging(0.495) tolerated(0.68) neutral(0.167) NULL MIR7-3HG 284424 genome.wustl.edu 37 19 4772175 4772175 + Splice_Site SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NR_027148.1 +1 validated NULL 0.001 129 0% 358 28.2% 0 - - - - - UHRF1 29128 genome.wustl.edu 37 19 4932925 4932925 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000398240 +1 known p.E261K 0.993 22 0% 37 48.6% 27 44.4% benign(0.011) tolerated(0.52) neutral(0.009) NULL UHRF1 29128 genome.wustl.edu 37 19 4941638 4941638 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000398240 +1 known p.R308I 0.064 78 0% 145 36.6% 27 40.7% benign(0.408) deleterious(0.05) deleterious(0.477) NULL KDM4B 23030 genome.wustl.edu 37 19 5039915 5039915 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015015.2 +1 validated p.A70 0.551 22 0% 24 25% 24 37.5% - - - NULL SAFB2 9667 genome.wustl.edu 37 19 5616217 5616217 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014649.2 -1 validated p.D157N 0.001 64 0% 142 31.7% 30 30% possibly_damaging(0.61) tolerated(0.11) deleterious(0.483) NULL SAFB 6294 genome.wustl.edu 37 19 5654197 5654197 + Missense_Mutation SNP G G A rs188904085 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002967.2 +1 reviewed p.R551Q 0.434 101 0% 289 33.9% 121 45.4% probably_damaging(0.963) tolerated(0.42) neutral(0.420) superfamily_SSF54928 CATSPERD 257062 genome.wustl.edu 37 19 5772829 5772829 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152784.3 +1 validated p.I598 0.000 48 0% 96 32.3% 0 - - - - NULL FUT6 2528 genome.wustl.edu 37 19 5831666 5831666 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000150.2 -1 reviewed p.L305M 0.989 114 0% 171 26.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glyco_transf_10 FUT3 2525 genome.wustl.edu 37 19 5844061 5844061 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000149.3 -1 reviewed p.A264T 0.999 130 0.8% 212 18.9% 0 - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_Glyco_transf_10 ACSBG2 81616 genome.wustl.edu 37 19 6183185 6183185 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030924.3 +1 validated p.F408L 1.000 80 0% 125 38.4% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_AMP-binding,superfamily_SSF56801 ACER1 125981 genome.wustl.edu 37 19 6312401 6312401 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_133492.2 -1 validated p.I68S 0.870 63 0% 200 37% 0 - benign(0.072) deleterious(0.01) neutral(0.411) HMMPfam_aPHC KHSRP 8570 genome.wustl.edu 37 19 6416504 6416504 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003685.2 -1 validated p.I495 0.388 34 0% 99 38.4% 113 43.3% - - - HMMSmart_SM00322,superfamily_Eukaryotic type KH-domain (KH-domain type I) KHSRP 8570 genome.wustl.edu 37 19 6422426 6422426 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003685.2 -1 validated p.D91N 1.000 129 0% 259 29% 38 57.8% probably_damaging(0.957) tolerated(0.08) deleterious(0.701) NULL SLC25A23 79085 genome.wustl.edu 37 19 6454714 6454714 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024103.2 -1 validated p.G166 0.005 37 0% 48 37.5% 21 38% - - - NULL C3 718 genome.wustl.edu 37 19 6697717 6697717 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000064.2 -1 reviewed p.E843 1.000 62 0% 57 43.9% 4 0% - - - HMMPfam_A2M C3 718 genome.wustl.edu 37 19 6719390 6719390 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000064.2 -1 reviewed p.I33 0.081 49 0% 118 38.1% 0 - - - - HMMPfam_A2M_N TRIP10 9322 genome.wustl.edu 37 19 6750327 6750327 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004240.2 +1 validated p.R418* 0.995 43 0% 45 42.2% 70 22.8% - - - NULL VAV1 7409 genome.wustl.edu 37 19 6772919 6772919 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005428.2 +1 reviewed p.A34V 1.000 60 0% 97 33% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CH,HMMSmart_CH,superfamily_Calponin-homology VAV1 7409 genome.wustl.edu 37 19 6825391 6825391 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005428.2 +1 reviewed p.Y267 1.000 54 0% 94 23.4% 3 0% - - - HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_DH-domain VAV1 7409 genome.wustl.edu 37 19 6854018 6854018 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005428.2 +1 reviewed p.R798Q 0.987 83 0% 126 34.1% 8 0% probably_damaging(0.988) tolerated(0.2) deleterious(0.486) HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SH3,superfamily_SSF55550 EMR1 2015 genome.wustl.edu 37 19 6903919 6903919 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001974.3 +1 reviewed p.N254D 0.236 149 0% 331 36% 0 - possibly_damaging(0.856) tolerated(0.43) neutral(0.344) HMMSmart_SM00179,HMMSmart_SM00181,superfamily_Family A G protein-coupled receptor-like EMR1 2015 genome.wustl.edu 37 19 6916286 6916286 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001974.3 +1 reviewed p.E443* 0.033 121 0% 243 35% 0 - - - - superfamily_Family A G protein-coupled receptor-like EMR1 2015 genome.wustl.edu 37 19 6921764 6921764 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001974.3 +1 reviewed p.S554N 0.001 137 0% 257 32.7% 0 - benign(0.001) tolerated(0.33) neutral(0.024) HMMPfam_GPS,HMMSmart_SM00303,superfamily_Family A G protein-coupled receptor-like EMR1 2015 genome.wustl.edu 37 19 6935064 6935064 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001974.3 +1 reviewed p.E786K 0.910 137 0% 259 28.2% 1 0% probably_damaging(0.972) deleterious(0.01) deleterious(0.820) HMMPfam_7tm_2,superfamily_Family A G protein-coupled receptor-like EMR4P 326342 genome.wustl.edu 37 19 6984860 6984860 + Splice_Site SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000359590 -1 known e4-1 0.866 156 0% 273 35.2% 0 - - - - - EMR4P 326342 genome.wustl.edu 37 19 6988808 6988808 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000359590 -1 known p.K25N 0.004 147 0% 226 26.5% 0 - - - - NULL ZNF557 79230 genome.wustl.edu 37 19 7083587 7083587 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001044387.1 +1 validated p.S375 0.119 94 0% 176 34.1% 1 100% - - - superfamily_SSF57667 INSR 3643 genome.wustl.edu 37 19 7174672 7174672 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000208.2 -1 reviewed p.D349N 1.000 69 0% 71 26.8% 5 0% benign(0.088) tolerated(0.06) neutral(0.329) superfamily_L domain-like C19orf45 374877 genome.wustl.edu 37 19 7569252 7569252 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198534.2 +1 validated p.S246L 0.014 34 0% 68 41.2% 0 - possibly_damaging(0.646) deleterious(0.01) deleterious(0.632) NULL MCOLN1 57192 genome.wustl.edu 37 19 7591779 7591779 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020533.2 +1 reviewed p.D180N 1.000 69 0% 120 36.7% 70 42.8% probably_damaging(0.993) tolerated(0.34) deleterious(0.473) NULL PNPLA6 10908 genome.wustl.edu 37 19 7605050 7605050 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006702.4 +1 reviewed p.F151 0.997 33 0% 37 45.9% 14 21.4% - - - HMMSmart_cNMP,superfamily_cNMP_binding PNPLA6 10908 genome.wustl.edu 37 19 7626392 7626392 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006702.4 +1 reviewed p.L1310I 0.157 20 0% 33 33.3% 124 34.6% benign(0.156) tolerated(0.12) neutral(0.275) NULL XAB2 56949 genome.wustl.edu 37 19 7693147 7693147 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020196.2 -1 validated p.R30L 1.000 79 0% 111 24.3% 28 42.8% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL STXBP2 6813 genome.wustl.edu 37 19 7712249 7712249 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006949.2 +1 reviewed p.F516 0.978 21 0% 30 16.7% 140 35% - - - HMMPfam_Sec1,superfamily_Sec1/munc18-like (SM) proteins FCER2 2208 genome.wustl.edu 37 19 7763739 7763739 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002002.4 -1 validated p.E8D 0.000 28 0% 31 25.8% 0 - possibly_damaging(0.565) tolerated(0.61) neutral(0.197) NULL CD209 30835 genome.wustl.edu 37 19 7805365 7805365 + RNA SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NR_026692.1 -1 reviewed NULL 0.000 42 0% 86 40.7% 0 - - - - - CD209 30835 genome.wustl.edu 37 19 7807826 7807826 + RNA SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NR_026692.1 -1 reviewed NULL 0.000 21 0% 37 27% 0 - - - - - CLEC4M 10332 genome.wustl.edu 37 19 7830514 7830514 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001144907.1 +1 reviewed p.L48I 0.000 214 0% 380 36.3% 0 - possibly_damaging(0.495) tolerated(0.06) deleterious(0.488) NULL LRRC8E 80131 genome.wustl.edu 37 19 7964768 7964768 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025061.3 +1 validated p.P454L 0.816 10 0% 16 37.5% 2 50% probably_damaging(0.994) - - superfamily_SSF52058 TIMM44 10469 genome.wustl.edu 37 19 8002998 8002998 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006351.3 -1 validated p.E76* 1.000 294 0.3% 520 31.3% 22 4.5% - - - NULL ELAVL1 1994 genome.wustl.edu 37 19 8056543 8056543 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001419.2 -1 reviewed p.R53W 1.000 139 0% 227 29.5% 77 44.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD CCL25 6370 genome.wustl.edu 37 19 8121383 8121383 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005624.2 +1 reviewed p.A109S 0.819 44 0% 89 38.2% 0 - probably_damaging(0.998) tolerated(0.08) deleterious(0.774) superfamily_Interleukin 8-like chemokines FBN3 84467 genome.wustl.edu 37 19 8136977 8136977 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032447.3 -1 reviewed p.L2681 0.926 50 0% 85 30.6% 0 - - - - NULL FBN3 84467 genome.wustl.edu 37 19 8152028 8152028 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032447.3 -1 reviewed p.I2229 0.939 31 0% 51 45.1% 0 - - - - PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin FBN3 84467 genome.wustl.edu 37 19 8173069 8173069 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032447.3 -1 reviewed p.T1558A 1.000 61 0% 120 38.3% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL FBN3 84467 genome.wustl.edu 37 19 8174244 8174244 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032447.3 -1 reviewed p.E1495D 0.256 42 0% 101 29.7% 0 - benign(0) tolerated(1) - superfamily_TB module/8-cys domain FBN3 84467 genome.wustl.edu 37 19 8196575 8196575 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032447.3 -1 reviewed p.S618N 1.000 24 0% 30 40% 0 - possibly_damaging(0.522) tolerated(0.17) neutral(0.235) superfamily_TB module/8-cys domain MYO1F 4542 genome.wustl.edu 37 19 8595108 8595108 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012335.3 -1 validated p.S767L 1.000 36 0% 44 45.5% 8 0% benign(0.124) tolerated(0.33) neutral(0.034) HMMPfam_Myosin_TH1 MYO1F 4542 genome.wustl.edu 37 19 8615486 8615486 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012335.3 -1 validated p.F288 0.997 98 0% 267 33% 5 0% - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO1F 4542 genome.wustl.edu 37 19 8618065 8618065 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012335.3 -1 validated p.F154 0.932 128 0% 286 32.9% 4 0% - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases ADAMTS10 81794 genome.wustl.edu 37 19 8661265 8661265 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030957.2 -1 reviewed p.R372 0.085 49 0% 89 36% 2 0% - - - HMMPfam_Reprolysin,superfamily_SSF55486 OR2Z1 284383 genome.wustl.edu 37 19 8841978 8841978 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004699.1 +1 provisional p.E196D 0.007 141 0% 289 29.1% 0 - benign(0.006) deleterious(0.02) neutral(0.383) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ZNF558 148156 genome.wustl.edu 37 19 8922147 8922147 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144693.1 -1 provisional p.R340I 1.000 165 0% 199 37.2% 4 75% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF558 148156 genome.wustl.edu 37 19 8922310 8922310 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144693.1 -1 provisional p.H286N 1.000 178 0% 231 33.8% 4 50% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers MUC16 94025 genome.wustl.edu 37 19 9000474 9000474 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024690.2 -1 validated p.F13504V 0.014 373 0% 532 36.5% 3 33.3% probably_damaging(0.999) tolerated(0.07) deleterious(0.809) HMMPfam_SEA,HMMSmart_SM00200,superfamily_SEA domain MUC16 94025 genome.wustl.edu 37 19 9047341 9047341 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024690.2 -1 validated p.E11430D 0.000 351 0% 511 32.3% 0 - benign(0.29) - - NULL MUC16 94025 genome.wustl.edu 37 19 9057356 9057356 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024690.2 -1 validated p.T10030 0.000 107 0% 165 28.5% 1 0% - - - NULL MUC16 94025 genome.wustl.edu 37 19 9059404 9059404 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024690.2 -1 validated p.E9348* 0.000 351 0% 386 31.9% 0 - - - - NULL MUC16 94025 genome.wustl.edu 37 19 9068797 9068797 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024690.2 -1 validated p.E6217* 0.002 133 0% 219 32.9% 0 - - - - NULL MUC16 94025 genome.wustl.edu 37 19 9072076 9072076 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024690.2 -1 validated p.E5124K 0.000 339 0% 484 31% 1 0% unknown(0) - - NULL MUC16 94025 genome.wustl.edu 37 19 9072110 9072110 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024690.2 -1 validated p.K5112N 0.000 303 0% 406 34.7% 1 0% unknown(0) - - NULL MUC16 94025 genome.wustl.edu 37 19 9077335 9077335 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024690.2 -1 validated p.D3371Y 0.049 214 0% 358 32.1% 1 0% unknown(0) - - NULL MUC16 94025 genome.wustl.edu 37 19 9077597 9077597 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024690.2 -1 validated p.V3283 0.008 104 0% 125 36% 0 - - - - NULL MUC16 94025 genome.wustl.edu 37 19 9086245 9086245 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024690.2 -1 validated p.G1857E 0.015 114 0% 175 29.1% 0 - unknown(0) - - NULL MUC16 94025 genome.wustl.edu 37 19 9087897 9087897 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024690.2 -1 validated p.E1306D 0.006 265 0% 485 32.4% 0 - unknown(0) - - NULL MUC16 94025 genome.wustl.edu 37 19 9091145 9091145 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024690.2 -1 validated p.G224R 0.042 195 0% 353 36.5% 0 - unknown(0) - - NULL OR7G1 125962 genome.wustl.edu 37 19 9226367 9226367 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005192.1 -1 provisional p.L25V 0.001 147 0% 317 35.6% 0 - benign(0.007) tolerated(0.07) neutral(0.319) superfamily_Family A G protein-coupled receptor-like OR7D2 162998 genome.wustl.edu 37 19 9296956 9296956 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_175883.1 +1 provisional p.I167L 0.004 182 0% 405 31.6% 0 - benign(0) deleterious(0.05) neutral(0.345) HMMPfam_7tm_1,superfamily_SSF81321 ENSG00000188314 0 genome.wustl.edu 37 19 9346187 9346187 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000344049 +1 known p.F18C 1.000 99 0% 110 30% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 ZNF177 7730 genome.wustl.edu 37 19 9492338 9492338 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003451.2 +1 validated p.R284K 1.000 124 0% 180 33.3% 11 63.6% probably_damaging(0.998) tolerated(0.07) deleterious(0.793) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF266 10781 genome.wustl.edu 37 19 9524026 9524026 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006631.2 -1 validated p.C525 1.000 99 1% 146 30.1% 23 26% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF426 79088 genome.wustl.edu 37 19 9639369 9639369 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024106.1 -1 provisional p.K451T 0.957 139 0% 265 33.2% 6 33.3% possibly_damaging(0.754) tolerated(0.13) deleterious(0.530) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF426 79088 genome.wustl.edu 37 19 9639570 9639570 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024106.1 -1 provisional p.R384I 0.040 110 0% 176 33% 7 85.7% probably_damaging(0.979) deleterious(0) deleterious(0.867) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF562 54811 genome.wustl.edu 37 19 9764426 9764426 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001130031.1 -1 validated p.K160N 0.201 177 0% 306 35% 3 0% benign(0.001) deleterious(0.01) neutral(0.406) NULL ZNF812 729648 genome.wustl.edu 37 19 9801766 9801766 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_001726949.2 -1 model p.K65T 0.000 151 0% 221 29.4% 1 0% possibly_damaging(0.448) tolerated(0.12) neutral(0.407) NULL ZNF812 729648 genome.wustl.edu 37 19 9804395 9804395 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000457674 -1 known p.E72D 0.706 114 0% 168 29.2% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box OLFM2 93145 genome.wustl.edu 37 19 9968532 9968532 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_058164.2 -1 provisional p.Q73H 1.000 29 0% 58 32.8% 25 32% probably_damaging(0.998) tolerated(0.06) deleterious(0.797) NULL COL5A3 50509 genome.wustl.edu 37 19 10080079 10080079 + Splice_Site SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015719.3 -1 reviewed e57-1 1.000 44 0% 66 30.3% 0 - - - - - COL5A3 50509 genome.wustl.edu 37 19 10089903 10089903 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015719.3 -1 reviewed p.E927* 0.998 113 0% 162 35.2% 2 0% - - - HMMPfam_Collagen COL5A3 50509 genome.wustl.edu 37 19 10114749 10114749 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015719.3 -1 reviewed p.D223N 0.549 53 0% 60 28.3% 0 - unknown(0) deleterious(0.02) - superfamily_Concanavalin A-like lectins/glucanases COL5A3 50509 genome.wustl.edu 37 19 10116479 10116479 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015719.3 -1 reviewed p.D144Y 1.000 46 0% 87 26.4% 2 0% unknown(0) deleterious(0) - HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 RAVER1 125950 genome.wustl.edu 37 19 10433938 10433938 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_133452.2 -1 validated p.G338W 1.000 31 0% 56 28.6% 19 52.6% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL KEAP1 9817 genome.wustl.edu 37 19 10600391 10600391 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012289.3 -1 reviewed p.E488D 1.000 60 0% 124 29.8% 64 25% probably_damaging(0.961) deleterious(0) deleterious(0.849) HMMPfam_Kelch_1,HMMSmart_Kelch,superfamily_Gal_oxid_central SLC44A2 57153 genome.wustl.edu 37 19 10747256 10747256 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020428.3 +1 validated p.A497 0.160 44 0% 86 25.6% 121 39.6% - - - HMMPfam_DUF580 C19orf38 255809 genome.wustl.edu 37 19 10980037 10980037 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001136482.1 +1 provisional p.C229 0.001 37 0% 50 36% 3 66.6% - - - NULL SMARCA4 6597 genome.wustl.edu 37 19 11152127 11152127 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001128849.1 +1 reviewed p.K1471Q 1.000 44 0% 53 35.8% 134 42.5% benign(0.119) tolerated(0.54) neutral(0.017) superfamily_Bromodomain LDLR 3949 genome.wustl.edu 37 19 11230776 11230776 + Silent SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000527.3 +1 reviewed p.V618 0.605 48 0% 150 27.3% 31 32.2% - - - HMMPfam_Ldl_recept_b,HMMSmart_SM00135,superfamily_YWTD domain RGL3 57139 genome.wustl.edu 37 19 11505121 11505121 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001035223.2 -1 validated p.R697Q 0.472 96 0% 159 35.2% 24 45.8% unknown(0) deleterious(0.01) - HMMPfam_RA,HMMSmart_SM00314,superfamily_Ubiquitin-like RGL3 57139 genome.wustl.edu 37 19 11507979 11507979 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001035223.2 -1 validated p.N652S 0.998 34 0% 78 38.5% 7 71.4% probably_damaging(0.971) tolerated(0.06) deleterious(0.736) HMMPfam_RA,HMMSmart_SM00314,superfamily_Ubiquitin-like CCDC151 115948 genome.wustl.edu 37 19 11545611 11545611 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145045.4 -1 validated p.K76T 0.997 43 0% 137 27.7% 1 100% benign(0.147) tolerated(0.08) neutral(0.313) NULL ZNF823 55552 genome.wustl.edu 37 19 11832638 11832638 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080493.2 -1 validated p.R571* 0.000 159 0% 249 34.5% 13 15.3% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF823 55552 genome.wustl.edu 37 19 11832709 11832709 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080493.2 -1 validated p.R547I 1.000 140 0% 225 36% 15 66.6% benign(0.055) tolerated(0.06) neutral(0.326) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF441 126068 genome.wustl.edu 37 19 11892195 11892195 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152355.2 +1 validated p.R519Q 0.000 128 0% 229 28.8% 0 - benign(0.124) tolerated(0.69) neutral(0.012) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF441 126068 genome.wustl.edu 37 19 11892363 11892363 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152355.2 +1 validated p.R575Q 0.000 103 1% 148 33.1% 0 - possibly_damaging(0.861) tolerated(0.72) neutral(0.335) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF491 126069 genome.wustl.edu 37 19 11917040 11917040 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152356.3 +1 validated p.R91Q 0.000 72 0% 120 35% 0 - benign(0.299) tolerated(0.89) neutral(0.092) superfamily_SSF57667 ZNF439 90594 genome.wustl.edu 37 19 11979077 11979077 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152262.2 +1 provisional p.R398Q 0.000 112 0% 140 32.1% 4 75% possibly_damaging(0.566) tolerated(0.79) neutral(0.195) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF69 7620 genome.wustl.edu 37 19 12015958 12015958 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000429654 +1 known p.E249A 0.224 107 0% 141 34.8% 0 - probably_damaging(0.972) tolerated(0.11) deleterious(0.685) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF69 7620 genome.wustl.edu 37 19 12016170 12016170 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000429654 +1 known p.R320C 0.028 177 0.6% 241 25.7% 1 100% benign(0.173) deleterious(0) neutral(0.461) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF700 90592 genome.wustl.edu 37 19 12059106 12059106 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144566.1 +1 provisional p.E89D 0.117 175 0% 291 28.9% 3 0% possibly_damaging(0.909) tolerated(0.08) deleterious(0.662) NULL ZNF763 284390 genome.wustl.edu 37 19 12089496 12089496 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001012753.1 +1 validated p.E256K 0.894 104 0% 165 30.3% 1 0% possibly_damaging(0.941) deleterious(0) deleterious(0.831) superfamily_SSF57667 ZNF433 163059 genome.wustl.edu 37 19 12126956 12126956 + Silent SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080411.1 -1 provisional p.R242 0.000 186 0% 318 29.2% 4 75% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF878 729747 genome.wustl.edu 37 19 12154808 12154808 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080404.1 -1 inferred p.K517E 0.992 101 0% 197 29.4% 0 - benign(0.002) tolerated(0.87) neutral(0.001) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF878 729747 genome.wustl.edu 37 19 12155560 12155560 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080404.1 -1 inferred p.R266I 0.002 181 0% 411 35.3% 0 - probably_damaging(0.993) tolerated(0.15) deleterious(0.691) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF878 729747 genome.wustl.edu 37 19 12155876 12155876 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080404.1 -1 inferred p.L161I 0.000 184 0% 329 33.7% 4 50% benign(0.332) tolerated(0.41) neutral(0.119) NULL ZNF844 284391 genome.wustl.edu 37 19 12186153 12186153 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001136501.1 +1 provisional p.E73A 0.014 85 0% 142 31% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL ZNF844 284391 genome.wustl.edu 37 19 12186452 12186452 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001136501.1 +1 provisional p.E173* 0.000 86 0% 170 22.4% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ENSG00000188474 0 genome.wustl.edu 37 19 12223009 12223009 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000339302 +1 known p.R216M 0.942 17 0% 34 47.1% 0 - possibly_damaging(0.752) deleterious(0.01) deleterious(0.681) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF20 7568 genome.wustl.edu 37 19 12243521 12243521 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021143.2 -1 validated p.R494* 0.000 144 0% 299 62.2% 26 92.3% - - - HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF20 7568 genome.wustl.edu 37 19 12244494 12244494 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021143.2 -1 validated p.K169 0.335 178 0% 400 30.2% 7 100% - - - superfamily_C2H2 and C2HC zinc fingers ZNF625 90589 genome.wustl.edu 37 19 12256528 12256528 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145233.2 -1 provisional p.R169* 0.003 182 0% 354 26.8% 5 40% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF136 7695 genome.wustl.edu 37 19 12297659 12297659 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003437.2 +1 validated p.R156* 0.746 113 0% 244 23% 7 71.4% - - - HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF563 147837 genome.wustl.edu 37 19 12429697 12429697 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145276.2 -1 validated p.R381Q 0.000 224 0% 488 36.5% 8 37.5% probably_damaging(1) tolerated(0.56) deleterious(0.506) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF563 147837 genome.wustl.edu 37 19 12429949 12429949 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145276.2 -1 validated p.R297Q 0.002 176 0% 352 36.6% 2 50% benign(0.128) tolerated(0.6) neutral(0.015) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF799 90576 genome.wustl.edu 37 19 12501903 12501903 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080821.1 -1 validated p.R437* 0.002 159 0% 247 32% 7 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF443 10224 genome.wustl.edu 37 19 12541832 12541832 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005815.4 -1 validated p.R385I 0.971 239 0.4% 343 31.8% 6 66.6% probably_damaging(0.967) deleterious(0.03) deleterious(0.773) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF564 163050 genome.wustl.edu 37 19 12637516 12637516 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144976.3 -1 validated p.R469I 0.999 192 0% 347 35.7% 15 26.6% probably_damaging(0.959) deleterious(0.03) deleterious(0.767) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ENSG00000246849 0 genome.wustl.edu 37 19 12740110 12740110 + RNA SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000458122 -1 novel NULL 0.909 23 0% 31 22.6% 5 40% - - - - MAN2B1 4125 genome.wustl.edu 37 19 12759160 12759160 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000528.3 -1 reviewed p.E831D 0.912 16 0% 35 28.6% 101 26.7% possibly_damaging(0.831) deleterious(0.01) deleterious(0.722) superfamily_Gal_mut_like,HMMPfam_Glyco_hydro_38C FBXW9 84261 genome.wustl.edu 37 19 12800211 12800211 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032301.2 -1 validated p.R426Q 0.957 72 0% 162 39.5% 40 45% benign(0.321) tolerated(0.17) neutral(0.160) HMMSmart_WD40,superfamily_WD40_like TNPO2 30000 genome.wustl.edu 37 19 12825664 12825664 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001136196.1 -1 validated p.C287* 1.000 93 0% 191 31.9% 42 30.9% - - - superfamily_ARM repeat RNASEH2A 10535 genome.wustl.edu 37 19 12924237 12924237 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006397.2 +1 reviewed p.R286Q 0.951 59 0% 97 37.1% 109 52.2% benign(0.028) tolerated(0.32) neutral(0.026) NULL MAST1 22983 genome.wustl.edu 37 19 12963207 12963207 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014975.2 +1 validated p.E359* 0.998 36 0% 98 30.6% 0 - - - - superfamily_Kinase_like RAD23A 5886 genome.wustl.edu 37 19 13058701 13058701 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005053.2 +1 reviewed p.R38C 0.035 129 0.8% 446 34.1% 104 45.1% possibly_damaging(0.916) deleterious(0.01) deleterious(0.772) HMMPfam_ubiquitin,HMMSmart_UBQ,superfamily_SSF54236 CACNA1A 773 genome.wustl.edu 37 19 13372308 13372308 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001127222.1 -1 reviewed p.F1402L 1.000 82 0% 164 29.3% 0 - probably_damaging(0.999) tolerated(0.09) deleterious(0.787) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CACNA1A 773 genome.wustl.edu 37 19 13411432 13411432 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001127222.1 -1 reviewed p.L737 0.017 275 0% 480 30.8% 0 - - - - NULL CACNA1A 773 genome.wustl.edu 37 19 13445202 13445202 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001127222.1 -1 reviewed p.I396 1.000 135 0% 179 27.9% 0 - - - - NULL IL27RA 9466 genome.wustl.edu 37 19 14153555 14153555 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004843.2 +1 reviewed p.N241S 0.035 201 0% 494 35% 1 0% benign(0.253) tolerated(0.81) neutral(0.026) superfamily_Fibronectin type III PALM3 342979 genome.wustl.edu 37 19 14164789 14164789 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145028.1 -1 validated p.S550 0.000 217 0% 385 32.5% 1 100% - - - NULL CD97 976 genome.wustl.edu 37 19 14508888 14508888 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_078481.2 +1 reviewed p.F278L 0.829 113 0% 233 28.3% 7 0% possibly_damaging(0.582) tolerated(0.47) neutral(0.211) NULL CD97 976 genome.wustl.edu 37 19 14517945 14517945 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_078481.2 +1 reviewed p.F760 0.008 74 0% 165 30.9% 44 0% - - - HMMPfam_7tm_2,superfamily_Family A G protein-coupled receptor-like CLEC17A 388512 genome.wustl.edu 37 19 14694206 14694206 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_207390.2 +1 validated p.E27D 0.993 180 0% 405 31.9% 0 - unknown(0) deleterious(0) - NULL EMR3 84658 genome.wustl.edu 37 19 14736376 14736376 + Silent SNP G G A rs147270469 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032571.3 -1 reviewed p.I616 0.000 234 0% 386 30.6% 0 - - - - superfamily_Family A G protein-coupled receptor-like ZNF333 84449 genome.wustl.edu 37 19 14829800 14829800 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032433.2 +1 validated p.R554Q 0.989 53 0% 85 23.5% 6 50% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ENSG00000233422 0 genome.wustl.edu 37 19 14857167 14857167 + RNA SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000430444 +1 known NULL 0.000 96 0% 168 33.9% 0 - - - - - EMR2 30817 genome.wustl.edu 37 19 14863336 14863336 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000360222 -1 known p.G399R 0.007 63 0% 146 40.4% 0 - unknown(0) - - NULL EMR2 30817 genome.wustl.edu 37 19 14865900 14865900 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013447.2 -1 reviewed p.E486K 0.207 65 0% 125 30.4% 0 - unknown(0) deleterious(0.04) - HMMPfam_GPS,HMMSmart_SM00303 OR7C1 26664 genome.wustl.edu 37 19 14910146 14910146 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198944.1 -1 validated p.S268Y 0.028 121 0% 175 31.4% 0 - benign(0.042) tolerated(0.11) neutral(0.274) HMMPfam_7tm_1,superfamily_SSF81321 OR7C1 26664 genome.wustl.edu 37 19 14910655 14910655 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198944.1 -1 validated p.L98 0.001 135 0.7% 190 38.9% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR7C1 26664 genome.wustl.edu 37 19 14910749 14910749 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198944.1 -1 validated p.S67Y 0.989 89 0% 185 30.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 OR7A2P 390894 genome.wustl.edu 37 19 14975160 14975160 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000304105 -1 known p.F123C 0.900 90 0% 164 39% 0 - benign(0.358) deleterious(0) deleterious(0.558) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR7C2 26658 genome.wustl.edu 37 19 15053246 15053246 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012377.1 +1 provisional p.A316T 0.000 44 0% 57 29.8% 0 - benign(0) tolerated(0.64) neutral(0.003) NULL SLC1A6 6511 genome.wustl.edu 37 19 15082625 15082625 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005071.1 -1 provisional p.F89L 0.989 121 0% 240 31.2% 0 - benign(0.072) tolerated(0.24) neutral(0.042) HMMPfam_SDF OR1I1 126370 genome.wustl.edu 37 19 15198156 15198156 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004713.1 +1 provisional p.F94V 0.018 174 0% 432 31% 0 - possibly_damaging(0.49) deleterious(0) deleterious(0.608) HMMPfam_7tm_1,superfamily_SSF81321 ILVBL 10994 genome.wustl.edu 37 19 15226687 15226687 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006844.3 -1 reviewed p.E530K 1.000 89 0% 129 32.6% 76 42.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TPP_enzyme_C,superfamily_Thiamin diphosphate-binding fold (THDP-binding) RASAL3 64926 genome.wustl.edu 37 19 15562669 15562669 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022904.1 -1 validated p.T991 0.000 142 0% 239 33.9% 18 0% - - - NULL RASAL3 64926 genome.wustl.edu 37 19 15566941 15566941 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022904.1 -1 validated p.V565 0.987 67 0% 116 31% 11 0% - - - HMMPfam_RasGAP,HMMSmart_SM00323,superfamily_GTPase activation domain GAP CYP4F22 126410 genome.wustl.edu 37 19 15648364 15648364 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173483.3 +1 reviewed p.S147N 0.976 88 0% 115 30.4% 0 - possibly_damaging(0.839) tolerated(0.6) neutral(0.325) HMMPfam_p450,superfamily_Cytochrome_P450 LOC646575 646575 genome.wustl.edu 37 19 15777837 15777837 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002343630.1 +1 model p.R86I 0.005 56 0% 83 32.5% 0 - - - - HMMPfam_p450,superfamily_Cytochrome P450 OR10H3 26532 genome.wustl.edu 37 19 15853082 15853082 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013938.1 +1 provisional p.L294I 0.999 198 0% 370 36.5% 0 - probably_damaging(0.985) deleterious(0) deleterious(0.877) superfamily_SSF81321 OR10H3 26532 genome.wustl.edu 37 19 15853116 15853116 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013938.1 +1 provisional p.K305T 0.002 157 0% 291 31.3% 0 - probably_damaging(0.955) deleterious(0) deleterious(0.843) superfamily_SSF81321 LOC388514 388514 genome.wustl.edu 37 19 15880499 15880499 + RNA SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XR_017598.3 -1 model NULL 0.995 147 0% 190 31.1% 0 - - - - - OR10H5 284433 genome.wustl.edu 37 19 15905218 15905218 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004466.1 +1 provisional p.Y120 0.995 209 0% 341 37% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 CYP4F11 57834 genome.wustl.edu 37 19 16025127 16025127 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001128932.1 -1 reviewed p.S462L 1.000 159 0% 226 26.1% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_p450,superfamily_Cytochrome P450,PatternScan_CYTOCHROME_P450 CYP4F11 57834 genome.wustl.edu 37 19 16035655 16035655 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001128932.1 -1 reviewed p.R188I 0.002 132 0% 170 40% 0 - benign(0.126) tolerated(0.25) neutral(0.048) HMMPfam_p450,superfamily_Cytochrome P450 OR10H4 126541 genome.wustl.edu 37 19 16059859 16059859 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004465.1 +1 validated p.L14 0.104 288 0% 485 33.8% 0 - - - - superfamily_SSF81321 EPS15L1 58513 genome.wustl.edu 37 19 16503190 16503190 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021235.1 -1 provisional p.D676 1.000 216 0% 361 34.3% 24 37.5% - - - NULL CALR3 125972 genome.wustl.edu 37 19 16601229 16601229 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145046.3 -1 validated p.D116Y 0.904 162 0% 367 25.9% 0 - probably_damaging(0.961) tolerated(0.29) neutral(0.433) HMMPfam_Calreticulin,superfamily_ConA_like_lec_gl CALR3 125972 genome.wustl.edu 37 19 16601353 16601353 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145046.3 -1 validated p.F74L 1.000 125 0% 319 37% 0 - possibly_damaging(0.757) deleterious(0.01) deleterious(0.685) HMMPfam_Calreticulin,superfamily_ConA_like_lec_gl C19orf44 84167 genome.wustl.edu 37 19 16611602 16611602 + Splice_Site SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032207.2 +1 validated e1-1 0.995 70 0% 166 31.9% 3 100% - - - - NWD1 284434 genome.wustl.edu 37 19 16860063 16860063 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001007525.2 +1 validated p.A69T 0.407 35 0% 65 18.5% 0 - benign(0.004) tolerated(0.23) neutral(0.042) NULL NWD1 284434 genome.wustl.edu 37 19 16923632 16923632 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001007525.2 +1 validated p.R1320H 0.968 273 0% 648 27.9% 0 - probably_damaging(0.97) tolerated(0.3) neutral(0.441) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 SIN3B 23309 genome.wustl.edu 37 19 16973757 16973757 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015260.1 +1 provisional p.K443N 0.240 88 0% 184 41.3% 5 20% benign(0.348) - - HMMPfam_HDAC_interact,HMMSmart_SM00761 CPAMD8 27151 genome.wustl.edu 37 19 17032757 17032757 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015692.2 -1 validated p.S1243F 1.000 36 0% 36 36.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Terpenoid cyclases/Protein prenyltransferases,HMMPfam_A2M_comp CPAMD8 27151 genome.wustl.edu 37 19 17038883 17038883 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000443236 -1 known p.P1160H 1.000 16 0% 30 43.3% 0 - - - - NULL CPAMD8 27151 genome.wustl.edu 37 19 17056395 17056395 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000443236 -1 known p.S977L 0.001 100 0% 177 35% 0 - - - - NULL CPAMD8 27151 genome.wustl.edu 37 19 17068726 17068726 + Splice_Site SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015692.2 -1 validated e19-1 1.000 84 0% 189 34.4% 0 - - - - - CPAMD8 27151 genome.wustl.edu 37 19 17088186 17088186 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015692.2 -1 validated p.E631K 1.000 53 0% 99 26.3% 0 - probably_damaging(0.996) tolerated(0.11) deleterious(0.733) HMMPfam_A2M_N_2 CPAMD8 27151 genome.wustl.edu 37 19 17088187 17088187 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000443236 -1 known p.S641L 0.994 54 0% 100 39% 0 - - - - HMMPfam_A2M_N_2 USHBP1 83878 genome.wustl.edu 37 19 17367430 17367430 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031941.3 -1 validated p.K440N 0.962 57 0% 97 26.8% 4 0% probably_damaging(0.995) deleterious(0.04) deleterious(0.806) NULL ANKLE1 126549 genome.wustl.edu 37 19 17394685 17394685 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152363.4 +1 validated p.R371Q 0.000 41 0% 71 45.1% 1 0% possibly_damaging(0.512) deleterious(0.01) deleterious(0.578) HMMPfam_LEM ANO8 57719 genome.wustl.edu 37 19 17441746 17441746 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020959.2 -1 validated p.S295L 1.000 106 0% 259 36.3% 6 66.6% possibly_damaging(0.794) deleterious(0) deleterious(0.742) NULL PLVAP 83483 genome.wustl.edu 37 19 17476793 17476793 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031310.1 -1 provisional p.L161M 0.000 68 0% 162 38.9% 60 0% probably_damaging(0.996) tolerated(0.1) deleterious(0.748) HMMPfam_PV-1 SLC27A1 376497 genome.wustl.edu 37 19 17597991 17597991 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198580.1 +1 provisional p.E191K 0.993 60 0% 102 35.3% 5 60% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_AMP-binding,superfamily_SSF56801 GLT25D1 79709 genome.wustl.edu 37 19 17692199 17692199 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024656.2 +1 provisional p.K605N 1.000 36 0% 95 40% 61 21.3% benign(0.132) tolerated(0.15) neutral(0.252) NULL UNC13A 23025 genome.wustl.edu 37 19 17756565 17756565 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080421.2 -1 validated p.K846N 1.000 152 0% 245 35.1% 0 - probably_damaging(0.993) tolerated(0.24) deleterious(0.487) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) UNC13A 23025 genome.wustl.edu 37 19 17783243 17783243 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080421.2 -1 validated p.D160Y 1.000 85 0% 202 31.7% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) FCHO1 23149 genome.wustl.edu 37 19 17886859 17886859 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015122.2 +1 validated p.F357L 1.000 55 0% 86 37.2% 1 100% benign(0.034) tolerated(1) neutral(0.002) NULL FCHO1 23149 genome.wustl.edu 37 19 17898531 17898531 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015122.2 +1 validated p.G841 0.993 20 0% 47 38.3% 0 - - - - NULL JAK3 3718 genome.wustl.edu 37 19 17945531 17945531 + Splice_Site SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000215.3 -1 reviewed e16-1 1.000 26 0% 40 32.5% 0 - - - - - KCNN1 3780 genome.wustl.edu 37 19 18092836 18092836 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002248.3 +1 reviewed p.V273F 1.000 30 0% 39 35.9% 5 0% possibly_damaging(0.929) deleterious(0) deleterious(0.821) superfamily_Voltage-gated potassium channels ARRDC2 27106 genome.wustl.edu 37 19 18119353 18119353 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015683.1 +1 validated p.R78 0.993 6 0.000 9 0.556 1 0% - - - HMMPfam_Arrestin_N,superfamily_E set domains IL12RB1 3594 genome.wustl.edu 37 19 18186574 18186574 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005535.1 -1 reviewed p.V229M 0.681 36 0% 81 43.2% 2 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_Fibronectin type III MAST3 23031 genome.wustl.edu 37 19 18245425 18245425 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015016.1 +1 validated p.T507 0.305 60 0% 100 35% 2 0% - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase PIK3R2 5296 genome.wustl.edu 37 19 18277023 18277023 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005027.2 +1 validated p.I490 1.000 51 0% 111 33.3% 32 50% - - - NULL KIAA1683 80726 genome.wustl.edu 37 19 18377835 18377835 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145304.1 -1 validated p.R172H 0.962 62 0% 98 31.6% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL ISYNA1 51477 genome.wustl.edu 37 19 18547677 18547677 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016368.4 -1 validated p.I142 1.000 7 0.000 15 0.400 49 20.4% - - - HMMPfam_NAD_binding_5,superfamily_NAD(P)-binding Rossmann-fold domains UPF1 5976 genome.wustl.edu 37 19 18963849 18963849 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002911.3 +1 reviewed p.I342 1.000 133 0% 168 39.3% 41 39% - - - NULL COPE 11316 genome.wustl.edu 37 19 19015580 19015580 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007263.3 -1 reviewed p.T193 0.997 31 0% 57 33.3% 504 5.9% - - - HMMPfam_Coatomer_E,superfamily_TPR-like COPE 11316 genome.wustl.edu 37 19 19023816 19023816 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007263.3 -1 reviewed p.L56M 1.000 75 0% 123 26% 376 61.1% benign(0.386) tolerated(0.58) neutral(0.129) HMMPfam_Coatomer_E DDX49 54555 genome.wustl.edu 37 19 19038660 19038660 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019070.4 +1 validated p.E396 1.000 67 0% 159 56% 136 53.6% - - - superfamily_SSF52540 SUGP2 10147 genome.wustl.edu 37 19 19135606 19135606 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001017392.3 -1 reviewed p.F517 0.449 124 0% 217 30% 20 75% - - - NULL SLC25A42 284439 genome.wustl.edu 37 19 19216465 19216465 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178526.3 +1 validated p.Y103 1.000 24 0% 27 18.5% 1 0% - - - superfamily_Mitoch_carrier,HMMPfam_Mito_carr TMEM161A 54929 genome.wustl.edu 37 19 19230787 19230787 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017814.1 -1 provisional p.L464 0.993 11 0% 22 45.5% 104 27.8% - - - HMMPfam_Tmemb_161AB TMEM161A 54929 genome.wustl.edu 37 19 19232372 19232372 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017814.1 -1 provisional p.R254 0.333 53 0% 104 38.5% 71 43.6% - - - HMMPfam_Tmemb_161AB NCAN 1463 genome.wustl.edu 37 19 19344692 19344692 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004386.2 +1 validated p.F1038 0.102 80 0% 141 36.9% 0 - - - - HMMPfam_EGF,HMMSmart_EGF,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_SSF57196 TM6SF2 53345 genome.wustl.edu 37 19 19380499 19380499 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001001524.2 -1 validated p.L161I 1.000 114 0% 220 25.5% 1 0% benign(0.33) tolerated(0.58) neutral(0.108) NULL CILP2 148113 genome.wustl.edu 37 19 19650515 19650515 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153221.2 +1 validated p.A31V 0.000 34 0% 78 37.2% 0 - benign(0) tolerated(0.45) neutral(0.012) NULL LPAR2 9170 genome.wustl.edu 37 19 19737446 19737446 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004720.5 -1 reviewed p.R216 0.153 8 0.000 16 0.375 18 50% - - - HMMPfam_7tm_1,superfamily_SSF81321 LPAR2 9170 genome.wustl.edu 37 19 19737857 19737857 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004720.5 -1 reviewed p.L79 1.000 24 0% 37 40.5% 24 50% - - - HMMPfam_7tm_1,superfamily_SSF81321 GMIP 51291 genome.wustl.edu 37 19 19740777 19740777 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016573.2 -1 reviewed p.L970I 0.306 30 0% 53 26.4% 39 33.3% possibly_damaging(0.556) deleterious(0) deleterious(0.634) NULL ZNF14 7561 genome.wustl.edu 37 19 19822367 19822367 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021030.2 -1 reviewed p.R575* 0.000 109 0% 135 25.2% 14 14.2% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF14 7561 genome.wustl.edu 37 19 19822451 19822451 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021030.2 -1 reviewed p.R547* 0.001 82 0% 153 33.3% 13 30.7% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF14 7561 genome.wustl.edu 37 19 19822885 19822885 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021030.2 -1 reviewed p.F402C 0.000 116 0% 175 36.6% 7 57.1% benign(0.005) tolerated(0.18) neutral(0.056) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF253 56242 genome.wustl.edu 37 19 20003051 20003051 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021047.2 +1 provisional p.R332I 1.000 84 0% 111 34.2% 6 16.6% benign(0.002) tolerated(0.18) neutral(0.056) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF253 56242 genome.wustl.edu 37 19 20003303 20003303 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021047.2 +1 provisional p.R416I 0.007 90 0% 107 33.6% 10 40% benign(0.028) tolerated(0.26) neutral(0.036) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF93 81931 genome.wustl.edu 37 19 20026119 20026119 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031218.3 +1 validated p.E12K 0.039 220 0% 288 33% 4 50% possibly_damaging(0.728) deleterious(0.01) deleterious(0.671) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF682 91120 genome.wustl.edu 37 19 20117061 20117061 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033196.2 -1 validated p.R417I 0.997 153 0% 243 32.9% 3 66.6% probably_damaging(0.999) tolerated(0.42) deleterious(0.504) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF682 91120 genome.wustl.edu 37 19 20117929 20117929 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033196.2 -1 validated p.E128* 0.000 236 0% 363 19% 1 0% - - - NULL ZNF682 91120 genome.wustl.edu 37 19 20118078 20118078 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033196.2 -1 validated p.S78Y 0.007 132 0% 263 32.7% 2 50% probably_damaging(0.981) tolerated(1) neutral(0.425) NULL ZNF90 7643 genome.wustl.edu 37 19 20230151 20230151 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007138.1 +1 validated p.K596N 0.327 31 0% 45 28.9% 5 80% benign(0.039) deleterious(0) neutral(0.447) NULL ENSG00000213985 0 genome.wustl.edu 37 19 20369811 20369811 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000397155 +1 known p.E258* 1.000 224 0% 476 29.6% 0 - - - - HMMPfam_Actin,HMMSmart_ACTIN,superfamily_SSF53067 ZNF626 199777 genome.wustl.edu 37 19 20808256 20808256 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001076675.2 -1 validated p.K143Q 0.074 274 0% 370 31.4% 1 0% probably_damaging(0.991) deleterious(0.02) deleterious(0.827) superfamily_C2H2 and C2HC zinc fingers ZNF85 7639 genome.wustl.edu 37 19 21132993 21132993 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003429.3 +1 validated p.R558I 1.000 62 0% 46 39.1% 3 66.6% benign(0.002) tolerated(0.22) neutral(0.042) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF493 284443 genome.wustl.edu 37 19 21606667 21606667 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001076678.2 +1 validated p.E402D 1.000 35 0% 40 20% 0 - benign(0.363) deleterious(0.02) deleterious(0.498) superfamily_C2H2 and C2HC zinc fingers ZNF493 284443 genome.wustl.edu 37 19 21607296 21607296 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001076678.2 +1 validated p.R612Q 0.000 40 0% 53 34% 1 100% benign(0.056) tolerated(0.45) neutral(0.015) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF493 284443 genome.wustl.edu 37 19 21607358 21607358 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001076678.2 +1 validated p.E633* 0.125 48 0% 46 32.6% 1 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ENSG00000196686 0 genome.wustl.edu 37 19 21608032 21608032 + RNA SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000341265 -1 novel NULL 0.018 23 0% 10 50% 0 - - - - - ZNF429 353088 genome.wustl.edu 37 19 21719517 21719517 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001001415.2 +1 provisional p.R221I 0.799 138 0% 173 34.1% 1 0% benign(0.009) tolerated(0.14) neutral(0.250) NULL ZNF100 163227 genome.wustl.edu 37 19 21910340 21910340 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173531.3 -1 validated p.E258D 1.000 96 0% 111 37.8% 7 100% possibly_damaging(0.582) tolerated(0.07) deleterious(0.519) superfamily_C2H2 and C2HC zinc fingers ZNF43 7594 genome.wustl.edu 37 19 21990427 21990427 + Silent SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003423.2 -1 validated p.T804 0.000 141 0% 159 35.2% 6 66.6% - - - NULL ZNF43 7594 genome.wustl.edu 37 19 21992001 21992001 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003423.2 -1 validated p.R280C 0.991 71 0% 82 28% 1 0% benign(0.017) deleterious(0) neutral(0.445) superfamily_C2H2 and C2HC zinc fingers ZNF208 7757 genome.wustl.edu 37 19 22154842 22154842 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007153.3 -1 provisional p.E870D 1.000 206 0% 156 30.1% 0 - probably_damaging(0.982) tolerated(0.08) deleterious(0.726) superfamily_SSF57667 ZNF676 163223 genome.wustl.edu 37 19 22375863 22375863 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001001411.2 -1 provisional p.E29* 0.954 252 0% 212 30.2% 1 0% - - - HMMSmart_KRAB LOC100287226 100287226 genome.wustl.edu 37 19 22498977 22498977 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002343636.1 +1 model p.F787V 0.000 48 0% 35 42.9% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC100287226 100287226 genome.wustl.edu 37 19 22499205 22499205 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002343636.1 +1 model p.E863* 0.000 110 0% 114 27.2% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC100287226 100287226 genome.wustl.edu 37 19 22499625 22499625 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002343636.1 +1 model p.E1003* 0.685 40 0% 40 52.5% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC100287226 100287226 genome.wustl.edu 37 19 22499889 22499889 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002343636.1 +1 model p.L1091F 0.596 30 0% 31 29% 0 - - - - NULL ZNF98 148198 genome.wustl.edu 37 19 22574928 22574928 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001098626.1 -1 validated p.R370I 0.994 98 0% 130 15.4% 0 - benign(0.038) tolerated(0.29) neutral(0.031) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF98 148198 genome.wustl.edu 37 19 22575347 22575347 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001098626.1 -1 validated p.R230S 0.998 178 0% 232 34.9% 0 - possibly_damaging(0.934) tolerated(0.08) deleterious(0.680) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF98 148198 genome.wustl.edu 37 19 22575445 22575445 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001098626.1 -1 validated p.A198T 0.000 145 0% 145 31.7% 0 - benign(0) tolerated(1) - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF492 57615 genome.wustl.edu 37 19 22847037 22847037 + Missense_Mutation SNP G G T rs186644138 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020855.2 +1 validated p.R189I 0.939 177 0% 210 30% 1 100% benign(0.001) tolerated(0.14) neutral(0.249) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF99 7652 genome.wustl.edu 37 19 22952756 22952756 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080409.1 -1 provisional p.R10I 0.001 151 0% 193 34.2% 0 - benign(0.001) - - NULL LOC646864 646864 genome.wustl.edu 37 19 23040894 23040894 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_001726885.1 +1 model p.E430* 0.112 32 0% 33 18.2% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF730 100129543 genome.wustl.edu 37 19 23316912 23316912 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_001719792.2 +1 model p.E54* 0.077 115 0% 178 24.7% 0 - - - - HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) LOC100131479 100131479 genome.wustl.edu 37 19 23779473 23779473 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_001719802.1 +1 model p.E66* 0.003 16 0% 18 33.3% 0 - - - - superfamily_C2H2 and C2HC zinc fingers ZNF675 171392 genome.wustl.edu 37 19 23836069 23836069 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138330.2 -1 validated p.K556Q 0.964 292 0% 406 34.7% 7 42.8% benign(0.408) tolerated(0.1) neutral(0.418) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF675 171392 genome.wustl.edu 37 19 23836482 23836482 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138330.2 -1 validated p.H418R 1.000 73 0% 121 38% 10 70% benign(0.393) deleterious(0) deleterious(0.571) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF681 148213 genome.wustl.edu 37 19 23926946 23926946 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138286.2 -1 validated p.K469T 0.976 89 0% 130 35.4% 5 100% probably_damaging(0.964) deleterious(0.01) deleterious(0.812) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF726 730087 genome.wustl.edu 37 19 24102249 24102249 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000322487 +1 known p.K26N 0.044 207 0% 216 37.5% 0 - benign(0.429) deleterious(0.04) deleterious(0.488) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF726 730087 genome.wustl.edu 37 19 24116645 24116645 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000322487 +1 known p.R576Q 0.000 50 0% 39 33.3% 0 - benign(0.039) tolerated(0.59) neutral(0.006) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF254 9534 genome.wustl.edu 37 19 24309339 24309339 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_203282.2 +1 validated p.K179N 1.000 62 0% 32 40.6% 1 100% benign(0.175) tolerated(0.17) neutral(0.075) superfamily_C2H2 and C2HC zinc fingers ZNF254 9534 genome.wustl.edu 37 19 24310667 24310667 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_203282.2 +1 validated p.R622I 1.000 66 0% 62 24.2% 10 20% benign(0) tolerated(0.52) neutral(0.009) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers UQCRFS1 7386 genome.wustl.edu 37 19 29698967 29698967 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006003.2 -1 validated p.E105* 0.996 114 0% 137 27% 91 31.8% - - - HMMPfam_UCR_TM,superfamily_UCR_TM_region ZNF536 9745 genome.wustl.edu 37 19 31038887 31038887 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014717.1 +1 provisional p.A787 0.906 41 0% 57 33.3% 0 - - - - HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF536 9745 genome.wustl.edu 37 19 31039313 31039313 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014717.1 +1 provisional p.S929 0.998 108 0% 115 32.2% 0 - - - - NULL ZNF536 9745 genome.wustl.edu 37 19 31039609 31039609 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014717.1 +1 provisional p.A1028V 0.997 85 0% 126 41.3% 0 - benign(0.247) deleterious(0) deleterious(0.470) NULL ZNF536 9745 genome.wustl.edu 37 19 31039710 31039710 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014717.1 +1 provisional p.D1062Y 1.000 114 0% 132 34.1% 0 - possibly_damaging(0.444) deleterious(0.02) deleterious(0.528) NULL TSHZ3 57616 genome.wustl.edu 37 19 31770503 31770503 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020856.2 -1 validated p.E66K 1.000 110 0% 133 34.6% 0 - benign(0.388) tolerated(0.63) neutral(0.128) NULL ANKRD27 84079 genome.wustl.edu 37 19 33130312 33130312 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032139.2 -1 validated p.E356K 0.996 128 0.8% 235 33.2% 3 33.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_VPS9,HMMSmart_VPS9,superfamily_SSF109993 ANKRD27 84079 genome.wustl.edu 37 19 33135274 33135274 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032139.2 -1 validated p.R161Q 0.721 115 0.9% 218 27.1% 5 80% possibly_damaging(0.727) tolerated(0.54) neutral(0.272) superfamily_SSF109993 NUDT19 390916 genome.wustl.edu 37 19 33202821 33202821 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001105570.1 +1 validated p.H362 0.002 89 0% 167 29.9% 13 23% - - - NULL TDRD12 91646 genome.wustl.edu 37 19 33246901 33246901 + Missense_Mutation SNP T T A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001110822.1 +1 validated p.C196S 1.000 135 0% 197 31% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL SLC7A9 11136 genome.wustl.edu 37 19 33324149 33324149 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001126335.1 -1 reviewed p.W435C 0.740 132 0% 202 33.7% 0 - benign(0.184) tolerated(0.11) neutral(0.289) HMMPfam_AA_permease SLC7A9 11136 genome.wustl.edu 37 19 33333094 33333094 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001126335.1 -1 reviewed p.E402* 1.000 101 0% 171 33.3% 1 0% - - - HMMPfam_AA_permease CEP89 84902 genome.wustl.edu 37 19 33422329 33422329 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000427840 -1 known p.T345 0.335 94 0% 144 34.7% 0 - - - - NULL C19orf40 91442 genome.wustl.edu 37 19 33464384 33464384 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152266.3 +1 validated p.S53 0.426 160 0.6% 359 34% 1 0% - - - NULL GPATCH1 55094 genome.wustl.edu 37 19 33617499 33617499 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018025.2 +1 provisional p.K875N 1.000 72 0% 271 34.7% 9 55.5% unknown(0) tolerated(0.11) - NULL CHST8 64377 genome.wustl.edu 37 19 34180227 34180227 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001127895.1 +1 validated p.F20 0.757 41 0% 60 45% 0 - - - - NULL CHST8 64377 genome.wustl.edu 37 19 34263626 34263626 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001127895.1 +1 validated p.F311 0.981 37 0% 57 29.8% 1 0% - - - HMMPfam_Sulfotransfer_2 CHST8 64377 genome.wustl.edu 37 19 34263790 34263790 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001127895.1 +1 validated p.R366Q 0.000 33 0% 53 32.1% 0 - benign(0.007) tolerated(0.12) neutral(0.261) HMMPfam_Sulfotransfer_2 LSM14A 26065 genome.wustl.edu 37 19 34663592 34663592 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001114093.1 +1 validated p.I15 1.000 40 0% 36 41.7% 53 32% - - - NULL UBA2 10054 genome.wustl.edu 37 19 34929585 34929585 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005499.2 +1 validated p.P165 0.979 183 0% 414 33.1% 42 52.3% - - - superfamily_MoeB,HMMPfam_UBA_e1_thiolCys UBA2 10054 genome.wustl.edu 37 19 34935922 34935922 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005499.2 +1 validated p.E223K 1.000 107 0% 193 34.7% 34 23.5% benign(0.003) tolerated(0.92) - superfamily_MoeB UBA2 10054 genome.wustl.edu 37 19 34941179 34941179 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005499.2 +1 validated p.D261Y 1.000 213 0% 427 29.7% 23 26% probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_MoeB SCGB2B2 284402 genome.wustl.edu 37 19 35085235 35085235 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001025591.2 -1 validated p.L31I 0.085 86 0% 163 37.4% 0 - benign(0.35) - - superfamily_Secretoglobin ZNF302 55900 genome.wustl.edu 37 19 35175242 35175242 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001012320.1 +1 validated p.E100 0.027 61 0% 45 40% 3 33.3% - - - NULL ZNF181 339318 genome.wustl.edu 37 19 35231636 35231636 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001029997.3 +1 validated p.S117Y 0.868 56 0% 38 18.4% 1 0% benign(0.032) tolerated(0.64) neutral(0.005) NULL ZNF181 339318 genome.wustl.edu 37 19 35232476 35232476 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001029997.3 +1 validated p.R397I 0.994 220 0% 168 21.4% 5 40% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF599 148103 genome.wustl.edu 37 19 35249961 35249961 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001007248.2 -1 validated p.R582Q 0.996 155 0% 186 35.5% 4 25% benign(0.001) tolerated(1) - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF30 90075 genome.wustl.edu 37 19 35435353 35435353 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001099437.1 +1 validated p.R496* 0.000 167 0% 231 33.3% 3 66.6% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers FXYD7 53822 genome.wustl.edu 37 19 35642349 35642349 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022006.1 +1 reviewed p.K48T 1.000 189 0% 440 11.6% 0 - probably_damaging(0.979) deleterious(0.02) deleterious(0.805) HMMPfam_ATP1G1_PLM_MAT8 MAG 4099 genome.wustl.edu 37 19 35801544 35801544 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002361.2 +1 reviewed p.R538 0.995 88 0% 162 29% 0 - - - - NULL CD22 933 genome.wustl.edu 37 19 35829139 35829139 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001771.3 +1 validated p.L352I 0.322 150 0% 300 26% 1 0% benign(0.002) tolerated(0.56) neutral(0.006) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin CD22 933 genome.wustl.edu 37 19 35831819 35831819 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001771.3 +1 validated p.P429S 0.000 153 0% 307 29% 0 - possibly_damaging(0.616) tolerated(0.53) neutral(0.222) HMMSmart_SM00409,superfamily_Immunoglobulin CD22 933 genome.wustl.edu 37 19 35837568 35837568 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001771.3 +1 validated p.E838* 0.107 58 0% 126 28.6% 4 0% - - - NULL ATP4A 495 genome.wustl.edu 37 19 36045841 36045841 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000704.2 -1 reviewed p.E822K 1.000 188 0% 399 33.1% 0 - possibly_damaging(0.675) deleterious(0) deleterious(0.684) HMMPfam_Cation_ATPase_C,superfamily_SSF81665 ATP4A 495 genome.wustl.edu 37 19 36047938 36047938 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000704.2 -1 reviewed p.F582 0.992 73 0% 112 36.6% 0 - - - - HMMPfam_Hydrolase,superfamily_SSF56784,superfamily_SSF81660,superfamily_SSF81665 NPHS1 4868 genome.wustl.edu 37 19 36317501 36317501 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004646.3 -1 reviewed p.R1214I 0.462 76 0% 147 34% 0 - benign(0.312) tolerated(0.15) neutral(0.339) NULL NPHS1 4868 genome.wustl.edu 37 19 36332686 36332686 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004646.3 -1 reviewed p.A916T 0.998 188 0.5% 360 26.4% 0 - possibly_damaging(0.699) deleterious(0.01) deleterious(0.657) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin NPHS1 4868 genome.wustl.edu 37 19 36336313 36336313 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004646.3 -1 reviewed p.E629 0.603 27 0% 38 50% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_C2-set_2,superfamily_Immunoglobulin APLP1 333 genome.wustl.edu 37 19 36365459 36365459 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001024807.1 +1 reviewed p.Q370 1.000 24 0% 41 41.5% 3 33.3% - - - superfamily_CAPPD an extracellular domain of amyloid beta A4 protein APLP1 333 genome.wustl.edu 37 19 36369535 36369535 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001024807.1 +1 reviewed p.P543 0.137 56 0% 129 31.8% 0 - - - - NULL ALKBH6 84964 genome.wustl.edu 37 19 36503975 36503975 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032878.3 -1 validated p.Y52C 1.000 138 0% 313 33.5% 39 38.4% probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL ZNF565 147929 genome.wustl.edu 37 19 36673743 36673743 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001042474.1 -1 validated p.H375 0.000 100 0% 174 31.6% 6 50% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZFP82 284406 genome.wustl.edu 37 19 36896562 36896562 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_133466.2 -1 provisional p.S50Y 1.000 233 0% 392 22.2% 2 50% probably_damaging(0.998) tolerated(0.16) deleterious(0.534) HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) LOC644189 644189 genome.wustl.edu 37 19 36913052 36913052 + RNA SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XR_016949.3 +1 model NULL 1.000 70 0% 130 30.8% 0 - - - - - ZNF566 84924 genome.wustl.edu 37 19 36940725 36940725 + Silent SNP T T A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145343.1 -1 validated p.G138 0.049 127 0% 228 33.3% 3 66.6% - - - NULL ZNF260 339324 genome.wustl.edu 37 19 37005202 37005202 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001012756.2 -1 validated p.F313L 0.202 186 0% 401 33.2% 3 33.3% possibly_damaging(0.855) deleterious(0) deleterious(0.774) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF529 57711 genome.wustl.edu 37 19 37038616 37038616 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145649.1 -1 validated p.F282V 0.974 97 0% 199 37.7% 5 60% benign(0.026) deleterious(0) neutral(0.446) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF382 84911 genome.wustl.edu 37 19 37117614 37117614 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032825.3 +1 validated p.K272T 0.671 25 0% 50 38% 2 50% benign(0.304) deleterious(0.03) neutral(0.459) NULL ZNF790 388536 genome.wustl.edu 37 19 37309594 37309594 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_206894.2 -1 validated p.R551Q 0.005 137 0% 190 33.7% 5 40% possibly_damaging(0.666) tolerated(0.93) neutral(0.236) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF829 374899 genome.wustl.edu 37 19 37383166 37383166 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001037232.3 -1 validated p.R176I 1.000 178 0% 257 33.1% 1 0% probably_damaging(0.997) tolerated(0.07) deleterious(0.785) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF568 374900 genome.wustl.edu 37 19 37488089 37488089 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000455427 +1 known p.R435I 0.822 17 0% 32 21.9% 0 - probably_damaging(0.975) deleterious(0.01) deleterious(0.823) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF568 374900 genome.wustl.edu 37 19 37488163 37488163 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000455427 +1 known p.R460* 0.000 24 0% 34 35.3% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF585B 92285 genome.wustl.edu 37 19 37676779 37676779 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152279.3 -1 validated p.E554K 0.003 223 0% 270 27.4% 3 33.3% benign(0.005) deleterious(0.05) neutral(0.345) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF585B 92285 genome.wustl.edu 37 19 37676978 37676978 + Silent SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152279.3 -1 validated p.T487 0.744 203 0% 320 36.2% 4 25% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF383 163087 genome.wustl.edu 37 19 37734271 37734271 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152604.1 +1 provisional p.S378N 0.085 108 0% 124 21% 13 61.5% benign(0.18) tolerated(0.42) neutral(0.030) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF527 84503 genome.wustl.edu 37 19 37879441 37879441 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032453.1 +1 validated p.E164* 0.008 70 0% 148 34.5% 2 100% - - - NULL ZNF527 84503 genome.wustl.edu 37 19 37880730 37880730 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032453.1 +1 validated p.C593 0.000 60 0% 70 25.7% 4 75% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF569 148266 genome.wustl.edu 37 19 37904690 37904690 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152484.2 -1 validated p.K290N 0.995 134 0% 157 35.7% 1 0% probably_damaging(0.996) deleterious(0.02) deleterious(0.845) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF540 163255 genome.wustl.edu 37 19 38102613 38102613 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152606.3 +1 validated p.I144 0.000 109 0% 164 31.7% 1 0% - - - NULL ZNF540 163255 genome.wustl.edu 37 19 38102710 38102710 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152606.3 +1 validated p.Q177K 0.959 90 0% 100 37% 0 - benign(0.118) tolerated(0.21) neutral(0.053) NULL ZFP30 22835 genome.wustl.edu 37 19 38125985 38125985 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014898.2 -1 validated p.R486I 1.000 126 0% 221 28.1% 2 100% probably_damaging(0.986) deleterious(0) deleterious(0.879) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZFP30 22835 genome.wustl.edu 37 19 38126825 38126825 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014898.2 -1 validated p.R206I 1.000 131 0% 215 32.1% 1 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF781 163115 genome.wustl.edu 37 19 38160221 38160221 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152605.3 -1 validated p.E277K 0.970 189 0% 298 30.2% 2 0% possibly_damaging(0.936) tolerated(0.05) deleterious(0.727) NULL ZNF781 163115 genome.wustl.edu 37 19 38160724 38160724 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152605.3 -1 validated p.R109I 1.000 183 0% 242 32.2% 0 - possibly_damaging(0.541) tolerated(0.06) deleterious(0.506) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF781 163115 genome.wustl.edu 37 19 38160901 38160901 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152605.3 -1 validated p.Q50R 0.982 188 0% 298 32.9% 0 - benign(0.027) tolerated(0.33) neutral(0.026) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF573 126231 genome.wustl.edu 37 19 38229764 38229764 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152360.3 -1 validated p.L485I 0.000 69 0% 98 22.4% 0 - possibly_damaging(0.598) tolerated(0.49) neutral(0.217) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF573 126231 genome.wustl.edu 37 19 38230072 38230072 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152360.3 -1 validated p.K382T 0.963 101 0% 160 30.6% 2 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_SSF57667 ZNF573 126231 genome.wustl.edu 37 19 38230846 38230846 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152360.3 -1 validated p.R124I 0.046 139 0% 245 32.7% 0 - probably_damaging(0.995) tolerated(0.14) deleterious(0.707) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 WDR87 83889 genome.wustl.edu 37 19 38376888 38376888 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031951.3 -1 provisional p.E2436* 0.001 113 0% 164 22.6% 0 - - - - NULL WDR87 83889 genome.wustl.edu 37 19 38376913 38376913 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031951.3 -1 provisional p.R2427S 0.000 118 0% 156 33.3% 0 - unknown(0) - - NULL WDR87 83889 genome.wustl.edu 37 19 38378956 38378956 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031951.3 -1 provisional p.K1746N 0.036 282 0% 490 31.6% 1 0% possibly_damaging(0.553) - - superfamily_WD40 repeat-like,superfamily_ARM repeat WDR87 83889 genome.wustl.edu 37 19 38386786 38386786 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000447313 -1 known p.E80* 0.995 48 0% 141 43.3% 0 - - - - NULL SIPA1L3 23094 genome.wustl.edu 37 19 38597229 38597229 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015073.1 +1 validated p.I694 1.000 105 0% 230 33.9% 8 62.5% - - - HMMPfam_Rap_GAP,superfamily_SSF111347 SPRED3 399473 genome.wustl.edu 37 19 38885327 38885327 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001042522.1 +1 validated p.E156D 1.000 17 0% 13 30.8% 0 - benign(0.181) tolerated(0.49) neutral(0.027) NULL RASGRP4 115727 genome.wustl.edu 37 19 38910507 38910507 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_170604.2 -1 reviewed p.A219V 0.658 37 0% 71 42.3% 0 - probably_damaging(0.987) deleterious(0.04) deleterious(0.785) HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_Ras GEF RYR1 6261 genome.wustl.edu 37 19 38959671 38959671 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000540.2 +1 reviewed p.G1149 0.997 108 0% 123 35.8% 0 - - - - HMMPfam_SPRY,HMMSmart_SM00449 RYR1 6261 genome.wustl.edu 37 19 38979972 38979972 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000540.2 +1 reviewed p.Q1901H 0.991 133 0% 307 39.4% 0 - possibly_damaging(0.435) - - NULL RYR1 6261 genome.wustl.edu 37 19 38997132 38997132 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000540.2 +1 reviewed p.E2880* 0.999 52 0% 103 23.3% 0 - - - - HMMPfam_RyR RYR1 6261 genome.wustl.edu 37 19 39018951 39018951 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000540.2 +1 reviewed p.E3610D 1.000 26 0% 44 36.4% 0 - probably_damaging(0.992) - - NULL RYR1 6261 genome.wustl.edu 37 19 39025821 39025821 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000540.2 +1 reviewed p.G3800 1.000 74 0% 213 34.3% 0 - - - - NULL RYR1 6261 genome.wustl.edu 37 19 39062862 39062862 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000540.2 +1 reviewed p.L4650 0.898 69 0% 162 39.5% 2 0% - - - HMMPfam_RR_TM4-6 RYR1 6261 genome.wustl.edu 37 19 39075688 39075688 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000540.2 +1 reviewed p.D4918N 1.000 219 0% 398 26.6% 1 0% unknown(0) - - HMMPfam_Ion_trans MAP4K1 11184 genome.wustl.edu 37 19 39090565 39090565 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007181.4 -1 validated p.G557* 1.000 132 0% 324 25.6% 0 - - - - HMMPfam_CNH,HMMSmart_CNH ACTN4 81 genome.wustl.edu 37 19 39200067 39200067 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004924.3 +1 reviewed p.F228 0.958 92 0% 183 32.8% 260 36.5% - - - HMMPfam_CH,HMMSmart_CH,superfamily_Calponin-homology CAPN12 147968 genome.wustl.edu 37 19 39224962 39224962 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144691.3 -1 validated p.F604 1.000 85 0% 174 38.5% 0 - - - - superfamily_SSF47473 SIRT2 22933 genome.wustl.edu 37 19 39374313 39374313 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012237.2 -1 reviewed p.C195 0.029 56 0% 108 35.2% 46 39.1% - - - HMMPfam_SIR2,superfamily_DHS-like NAD/FAD-binding domain SARS2 54938 genome.wustl.edu 37 19 39410738 39410738 + Missense_Mutation SNP A A T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017827.3 -1 reviewed p.I214N 1.000 61 0% 128 26.6% 11 27.2% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF55681 PAPL 390928 genome.wustl.edu 37 19 39591447 39591447 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004318.2 +1 validated p.R254H 0.996 68 1.5% 110 34.5% 0 - benign(0.001) tolerated(0.54) neutral(0.007) HMMPfam_Metallophos,superfamily_SSF56300 PLEKHG2 64857 genome.wustl.edu 37 19 39911448 39911448 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022835.2 +1 validated p.R452Q 0.960 68 0% 159 27% 20 40% possibly_damaging(0.647) deleterious(0.01) deleterious(0.633) NULL PLEKHG2 64857 genome.wustl.edu 37 19 39912917 39912917 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022835.2 +1 validated p.R556* 0.981 86 0% 179 32.4% 29 44.8% - - - NULL SUPT5H 6829 genome.wustl.edu 37 19 39959477 39959477 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001111020.2 +1 validated p.F373L 1.000 133 0% 246 32.9% 95 42.1% benign(0.006) deleterious(0.04) neutral(0.349) NULL FCGBP 8857 genome.wustl.edu 37 19 40411805 40411805 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003890.2 -1 validated p.V1275M 0.619 88 0% 163 35% 0 - probably_damaging(1) tolerated(0.11) deleterious(0.772) HMMPfam_VWD,HMMSmart_VWD FCGBP 8857 genome.wustl.edu 37 19 40419672 40419672 + Missense_Mutation SNP C C T rs138262646 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003890.2 -1 validated p.A1108T 0.088 23 0% 47 27.7% 0 - benign(0.067) tolerated(1) neutral(0.004) HMMPfam_C8 ZNF546 339327 genome.wustl.edu 37 19 40519615 40519615 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178544.3 +1 validated p.K146N 0.010 44 0% 76 36.8% 0 - possibly_damaging(0.642) tolerated(0.52) neutral(0.234) NULL ZNF546 339327 genome.wustl.edu 37 19 40520055 40520055 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178544.3 +1 validated p.R293I 1.000 147 0% 233 39.1% 1 100% possibly_damaging(0.657) tolerated(0.11) deleterious(0.503) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF546 339327 genome.wustl.edu 37 19 40521567 40521567 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178544.3 +1 validated p.R797I 1.000 97 0% 143 25.2% 0 - possibly_damaging(0.693) deleterious(0.04) deleterious(0.597) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF780B 163131 genome.wustl.edu 37 19 40540616 40540616 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005851.2 -1 validated p.R717Q 0.000 91 0% 132 43.2% 0 - probably_damaging(0.995) tolerated(0.67) neutral(0.460) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF780B 163131 genome.wustl.edu 37 19 40541540 40541540 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005851.2 -1 validated p.S409I 0.001 205 0% 227 31.7% 1 0% probably_damaging(0.998) tolerated(0.42) deleterious(0.488) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF780B 163131 genome.wustl.edu 37 19 40541575 40541575 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005851.2 -1 validated p.S397 0.353 182 0% 203 31.5% 1 100% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF780A 284323 genome.wustl.edu 37 19 40581300 40581300 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142577.1 -1 validated p.R351Q 0.000 179 0% 247 25.5% 2 0% possibly_damaging(0.498) tolerated(0.39) neutral(0.182) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF780A 284323 genome.wustl.edu 37 19 40589110 40589110 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142577.1 -1 validated p.F15C 0.994 267 0% 338 24% 7 28.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) AKT2 208 genome.wustl.edu 37 19 40741869 40741869 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001626.3 -1 reviewed p.R368H 1.000 65 0% 131 29% 54 35.1% probably_damaging(0.98) tolerated(0.47) neutral(0.435) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase PRX 57716 genome.wustl.edu 37 19 40902198 40902198 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_181882.2 -1 reviewed p.K687N 0.000 81 0% 172 39.5% 3 0% probably_damaging(0.995) deleterious(0.02) deleterious(0.841) NULL PRX 57716 genome.wustl.edu 37 19 40902483 40902483 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_181882.2 -1 reviewed p.E592D 0.000 58 0% 87 26.4% 3 33.3% benign(0.035) tolerated(0.32) neutral(0.026) NULL SPTBN4 57731 genome.wustl.edu 37 19 41029461 41029461 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020971.2 +1 reviewed p.A1258T 1.000 40 0% 66 36.4% 0 - benign(0) tolerated(0.11) neutral(0.272) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SHKBP1 92799 genome.wustl.edu 37 19 41083514 41083514 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138392.3 +1 validated p.R80C 1.000 56 0% 170 29.4% 62 40.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_POZ domain LTBP4 8425 genome.wustl.edu 37 19 41117096 41117096 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000308370 +1 known p.R684* 0.968 75 0% 76 32.9% 22 0% - - - HMMSmart_EGF_CA,superfamily_Grow_fac_recept,HMMPfam_EGF_CA,PatternScan_EGF_CA LTBP4 8425 genome.wustl.edu 37 19 41118989 41118989 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000308370 +1 known p.S840L 0.038 70 0% 119 33.6% 27 0% probably_damaging(0.983) deleterious(0.03) deleterious(0.793) HMMSmart_EGF_CA,superfamily_Grow_fac_recept,HMMPfam_EGF_CA,PatternScan_EGF_CA LTBP4 8425 genome.wustl.edu 37 19 41119033 41119033 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000308370 +1 known p.E855K 0.273 41 0% 86 36% 24 0% benign(0.002) tolerated(0.34) neutral(0.023) PatternScan_ASX_HYDROXYL,HMMSmart_EGF_CA,superfamily_Grow_fac_recept,HMMPfam_EGF_CA,PatternScan_EGF_CA LTBP4 8425 genome.wustl.edu 37 19 41125350 41125350 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000308370 +1 known p.E1123* 1.000 125 0% 256 30.9% 50 6% - - - HMMSmart_EGF LTBP4 8425 genome.wustl.edu 37 19 41132887 41132887 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001042544.1 +1 reviewed p.S1398L 0.997 93 0% 108 40.7% 65 10.7% - - - NULL ADCK4 79934 genome.wustl.edu 37 19 41211272 41211272 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024876.3 -1 validated p.R150* 1.000 51 0% 85 32.9% 22 18.1% - - - NULL CYP2A6 1548 genome.wustl.edu 37 19 41349830 41349830 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000762.5 -1 reviewed p.F452L 0.988 272 0% 608 14.3% 0 - benign(0.049) tolerated(0.17) neutral(0.062) HMMPfam_p450,superfamily_Cytochrome P450 CYP2A6 1548 genome.wustl.edu 37 19 41351219 41351219 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000762.5 -1 reviewed p.R381W 0.003 129 0% 197 24.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_p450,superfamily_Cytochrome P450 CYP2A7 1549 genome.wustl.edu 37 19 41381727 41381727 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000764.2 -1 reviewed p.F452L 0.967 196 0% 392 20.2% 1 0% benign(0.006) tolerated(0.16) neutral(0.059) HMMPfam_p450,superfamily_Cytochrome_P450 CYP2B7P1 1556 genome.wustl.edu 37 19 41450344 41450344 + RNA SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NR_001278.1 +1 provisional NULL 1.000 106 0% 152 27% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) - CYP2B6 1555 genome.wustl.edu 37 19 41512960 41512960 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000767.4 +1 reviewed p.V212A 0.002 141 0% 299 39.1% 0 - benign(0) tolerated(0.23) neutral(0.042) HMMPfam_p450,superfamily_Cytochrome_P450 CYP2A13 1553 genome.wustl.edu 37 19 41597656 41597656 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000766.3 +1 reviewed p.S225L 0.000 210 0.5% 396 32.1% 0 - benign(0.076) tolerated(0.32) neutral(0.029) HMMPfam_p450,superfamily_Cytochrome_P450 CYP2F1 1572 genome.wustl.edu 37 19 41622247 41622247 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000774.3 +1 reviewed p.L52M 0.000 108 0% 215 34.4% 0 - possibly_damaging(0.685) tolerated(0.22) neutral(0.286) HMMPfam_p450,superfamily_Cytochrome P450 AXL 558 genome.wustl.edu 37 19 41762393 41762393 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021913.3 +1 reviewed p.F691 0.969 103 1% 200 35.5% 12 0% - - - HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) BCKDHA 593 genome.wustl.edu 37 19 41928955 41928955 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000709.3 +1 reviewed p.E350* 1.000 60 0% 125 31.2% 46 19.5% - - - HMMPfam_E1_dh,superfamily_SSF52518 ENSG00000229113 0 genome.wustl.edu 37 19 42027588 42027588 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000439847 -1 known p.R232Q 0.003 211 0% 337 29.7% 2 0% - - - NULL ENSG00000229113 0 genome.wustl.edu 37 19 42028217 42028217 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000439847 -1 known p.K45N 1.000 112 0% 215 30.2% 0 - - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like CEACAM21 90273 genome.wustl.edu 37 19 42083873 42083873 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001098506.1 +1 validated p.S129Y 0.000 55 0% 117 23.1% 1 0% benign(0.011) tolerated(1) neutral(0.001) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin CEACAM4 1089 genome.wustl.edu 37 19 42132167 42132167 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001817.2 -1 validated p.L78F 0.000 161 0% 307 34.5% 0 - benign(0.085) tolerated(0.67) neutral(0.009) HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 CEACAM7 1087 genome.wustl.edu 37 19 42181417 42181417 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006890.3 -1 provisional p.A241S 0.001 227 0% 220 35.9% 0 - benign(0.004) tolerated(0.5) neutral(0.010) NULL CEACAM5 1048 genome.wustl.edu 37 19 42219683 42219683 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004363.2 +1 validated p.V273G 0.902 334 0% 578 36.7% 9 44.4% possibly_damaging(0.905) deleterious(0) deleterious(0.804) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin CEACAM5 1048 genome.wustl.edu 37 19 42223882 42223882 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004363.2 +1 validated p.N509T 0.000 150 0% 239 27.6% 18 55.5% possibly_damaging(0.799) deleterious(0) deleterious(0.746) HMMSmart_SM00409,superfamily_Immunoglobulin CEACAM3 1084 genome.wustl.edu 37 19 42315271 42315271 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001815.2 +1 reviewed p.S252Y 0.002 111 0% 171 48% 0 - possibly_damaging(0.578) deleterious(0) deleterious(0.643) NULL LYPD4 147719 genome.wustl.edu 37 19 42341357 42341357 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173506.4 -1 validated p.D201Y 0.000 92 0% 232 35.3% 0 - possibly_damaging(0.538) tolerated(0.11) neutral(0.454) HMMPfam_UPAR_LY6 LYPD4 147719 genome.wustl.edu 37 19 42342207 42342207 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173506.4 -1 validated p.L114I 0.989 97 0% 227 27.3% 1 0% probably_damaging(0.991) tolerated(0.06) deleterious(0.766) NULL ATP1A3 478 genome.wustl.edu 37 19 42471167 42471167 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000441343 -1 known p.L1083I 0.000 83 0% 185 32.4% 0 - unknown(0) - - NULL ATP1A3 478 genome.wustl.edu 37 19 42489469 42489469 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152296.3 -1 reviewed p.N238S 1.000 63 0% 156 12.2% 0 - possibly_damaging(0.461) tolerated(0.22) neutral(0.193) HMMPfam_E1-E2_ATPase,superfamily_SSF81653,superfamily_SSF81665 GRIK5 2901 genome.wustl.edu 37 19 42563539 42563539 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002088.3 -1 reviewed p.D217N 1.000 197 0% 445 31.2% 2 0% possibly_damaging(0.949) deleterious(0.01) deleterious(0.798) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I GRIK5 2901 genome.wustl.edu 37 19 42566748 42566748 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002088.3 -1 reviewed p.A134T 1.000 62 0% 97 22.7% 0 - benign(0.02) tolerated(0.41) neutral(0.016) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I ZNF526 116115 genome.wustl.edu 37 19 42728732 42728732 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_133444.1 +1 provisional p.C59* 0.995 85 0% 156 38.5% 13 69.2% - - - PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CIC 23152 genome.wustl.edu 37 19 42790988 42790988 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015125.3 +1 validated p.A45T 1.000 44 0% 59 45.8% 14 50% possibly_damaging(0.636) tolerated(0.1) deleterious(0.509) NULL PSG3 5671 genome.wustl.edu 37 19 43244503 43244503 + Missense_Mutation SNP G G A rs188987120 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021016.3 -1 validated p.R12C 0.003 252 0.4% 318 30.8% 0 - benign(0.003) tolerated(0.11) neutral(0.272) HMMPfam_V-set PSG8 440533 genome.wustl.edu 37 19 43262241 43262241 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182707.2 -1 validated p.T208A 0.043 306 0% 375 30.7% 0 - probably_damaging(0.987) deleterious(0) deleterious(0.881) HMMSmart_IG,HMMPfam_ig,superfamily_SSF48726 PSG6 5675 genome.wustl.edu 37 19 43414920 43414920 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002782.3 -1 provisional p.P173L 0.001 360 0% 472 29.4% 0 - benign(0) tolerated(0.21) neutral(0.044) HMMPfam_ig,superfamily_SSF48726 PSG11 5680 genome.wustl.edu 37 19 43529203 43529203 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002785.2 -1 validated p.L24I 0.286 433 0% 649 28.5% 0 - possibly_damaging(0.928) deleterious(0) deleterious(0.820) HMMPfam_V-set PSG2 5670 genome.wustl.edu 37 19 43585215 43585215 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031246.2 -1 validated p.V83A 0.000 461 0% 689 27.6% 0 - benign(0.021) tolerated(0.1) neutral(0.287) HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 PSG4 5672 genome.wustl.edu 37 19 43708205 43708205 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002780.3 -1 validated p.R88I 0.000 665 0% 1100 20.9% 0 - benign(0) tolerated(0.23) neutral(0.042) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin LYPD3 27076 genome.wustl.edu 37 19 43965982 43965982 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014400.2 -1 validated p.L188 0.296 56 0% 168 36.9% 67 59.7% - - - HMMPfam_UPAR_LY6 XRCC1 7515 genome.wustl.edu 37 19 44056382 44056382 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006297.2 -1 reviewed p.R290Q 0.979 63 0% 101 42.6% 49 42.8% benign(0.367) tolerated(0.32) neutral(0.141) NULL XRCC1 7515 genome.wustl.edu 37 19 44058827 44058827 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006297.2 -1 reviewed p.K129E 1.000 34 0% 58 37.9% 35 34.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_XRCC1_N,superfamily_Galactose-binding domain-like IRGQ 126298 genome.wustl.edu 37 19 44097444 44097444 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001007561.2 -1 validated p.E202 0.915 9 0.000 12 0.333 15 73.3% - - - NULL KCNN4 3783 genome.wustl.edu 37 19 44273178 44273178 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002250.2 -1 reviewed p.R352 1.000 95 0% 202 26.7% 9 66.6% - - - HMMPfam_CaMBD,superfamily_Small-conductance potassium channel LYPD5 284348 genome.wustl.edu 37 19 44303930 44303930 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001031749.2 -1 validated p.L41I 0.998 90 0% 140 30.7% 1 0% probably_damaging(0.996) tolerated(0.29) deleterious(0.491) superfamily_Snake toxin-like ZNF283 284349 genome.wustl.edu 37 19 44351258 44351258 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_181845.1 +1 validated p.G169R 0.003 52 0% 76 39.5% 2 0% benign(0.009) tolerated(0.66) neutral(0.003) NULL ZNF283 284349 genome.wustl.edu 37 19 44351601 44351601 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_181845.1 +1 validated p.R283I 1.000 85 0% 119 29.4% 2 50% benign(0.209) tolerated(0.12) neutral(0.281) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF404 342908 genome.wustl.edu 37 19 44378032 44378032 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001033719.2 -1 validated p.F112V 0.009 177 0% 149 23.5% 1 100% benign(0.077) tolerated(0.15) neutral(0.246) NULL ZNF221 7638 genome.wustl.edu 37 19 44471482 44471482 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013359.2 +1 validated p.S610R 0.000 60 0% 85 40% 1 0% benign(0.01) - - NULL ZNF155 7711 genome.wustl.edu 37 19 44500677 44500677 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003445.2 +1 validated p.Q223P 0.947 256 0.8% 275 30.2% 4 0% probably_damaging(0.988) deleterious(0.02) deleterious(0.821) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF223 7766 genome.wustl.edu 37 19 44570500 44570500 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013361.4 +1 validated p.E173D 0.816 148 0% 286 34.3% 3 66.6% benign(0.004) tolerated(0.13) neutral(0.253) superfamily_C2H2 and C2HC zinc fingers ZNF224 7767 genome.wustl.edu 37 19 44605039 44605039 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013398.2 +1 validated p.R34Q 0.020 279 0% 505 31.7% 8 62.5% benign(0.024) tolerated(0.13) neutral(0.254) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF224 7767 genome.wustl.edu 37 19 44611788 44611788 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013398.2 +1 validated p.R492I 0.000 142 0% 247 36.8% 4 75% probably_damaging(0.981) tolerated(0.18) deleterious(0.481) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF224 7767 genome.wustl.edu 37 19 44612076 44612076 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013398.2 +1 validated p.R588I 0.005 128 0% 277 32.5% 13 46.1% probably_damaging(0.994) tolerated(0.17) deleterious(0.511) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF234 10780 genome.wustl.edu 37 19 44661578 44661578 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001144824.1 +1 validated p.R470Q 0.000 138 0% 222 63.5% 6 100% probably_damaging(0.999) tolerated(0.58) deleterious(0.495) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF227 7770 genome.wustl.edu 37 19 44721987 44721987 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182490.1 +1 provisional p.E14 0.671 173 0% 285 33% 4 25% - - - NULL ZNF227 7770 genome.wustl.edu 37 19 44740399 44740399 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182490.1 +1 provisional p.C606G 0.985 91 0% 182 33.5% 10 60% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF233 353355 genome.wustl.edu 37 19 44777281 44777281 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_181756.1 +1 provisional p.N156K 0.000 73 0% 90 31.1% 1 100% possibly_damaging(0.475) tolerated(0.08) neutral(0.457) NULL ZNF235 9310 genome.wustl.edu 37 19 44791371 44791371 + Nonstop_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004234.4 -1 reviewed p.*739Y 0.000 170 0% 175 31.4% 3 100% - - - NULL ZNF235 9310 genome.wustl.edu 37 19 44792608 44792608 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004234.4 -1 reviewed p.G327D 0.653 167 0% 248 35.9% 3 33.3% probably_damaging(0.998) deleterious(0.04) deleterious(0.823) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF285 26974 genome.wustl.edu 37 19 44891427 44891427 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152354.3 -1 validated p.R327H 0.000 211 0% 268 37.3% 0 - possibly_damaging(0.755) tolerated(0.55) neutral(0.286) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF285 26974 genome.wustl.edu 37 19 44891606 44891606 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152354.3 -1 validated p.K267N 0.003 39 0% 52 36.5% 1 0% benign(0.079) deleterious(0.02) neutral(0.389) HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF229 7772 genome.wustl.edu 37 19 44932495 44932495 + Missense_Mutation SNP C C T rs147313651 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014518.2 -1 validated p.E821K 0.856 173 0% 201 29.4% 0 - benign(0) tolerated(0.2) neutral(0.049) superfamily_C2H2 and C2HC zinc fingers ZNF180 7733 genome.wustl.edu 37 19 44980824 44980824 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013256.3 -1 validated p.R625I 0.994 183 0% 223 31.8% 12 50% probably_damaging(1) tolerated(0.09) deleterious(0.796) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF180 7733 genome.wustl.edu 37 19 44980992 44980992 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013256.3 -1 validated p.R569I 1.000 208 0% 213 32.9% 11 45.4% probably_damaging(1) tolerated(0.19) deleterious(0.549) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CBLC 23624 genome.wustl.edu 37 19 45287546 45287546 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012116.3 +1 validated p.R269C 1.000 109 0% 274 42.7% 7 42.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cbl_N3,superfamily_SH2 domain GEMIN7 79760 genome.wustl.edu 37 19 45593658 45593658 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001007269.1 +1 reviewed p.D96N 0.998 33 0% 45 26.7% 41 39% benign(0.332) tolerated(0.16) neutral(0.163) NULL ERCC2 2068 genome.wustl.edu 37 19 45855848 45855848 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000400.3 -1 reviewed p.F654 0.169 29 0% 49 36.7% 40 35% - - - HMMSmart_HELICc2 PPP1R13L 10848 genome.wustl.edu 37 19 45888880 45888880 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142502.1 -1 validated p.A730T 1.000 25 0% 13 38.5% 135 56.2% unknown(0) deleterious(0) - superfamily_Ankyrin repeat DMPK 1760 genome.wustl.edu 37 19 46283068 46283068 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001081563.1 -1 reviewed p.L84M 0.999 50 0% 81 29.6% 12 33.3% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase CCDC61 729440 genome.wustl.edu 37 19 46519649 46519649 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080402.1 +1 provisional p.M382I 1.000 79 0% 113 30.1% 3 66.6% possibly_damaging(0.741) tolerated(0.33) neutral(0.296) NULL IGFL3 388555 genome.wustl.edu 37 19 46627236 46627236 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_207393.1 -1 validated p.S86Y 0.002 95 0% 103 33% 0 - benign(0.094) tolerated(0.37) neutral(0.026) NULL IGFL1 374918 genome.wustl.edu 37 19 46733744 46733744 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198541.1 +1 provisional p.A98V 0.000 52 0% 57 26.3% 12 66.6% possibly_damaging(0.796) deleterious(0) deleterious(0.744) NULL PPP5C 5536 genome.wustl.edu 37 19 46887100 46887100 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006247.2 +1 provisional p.E255K 0.999 124 0.8% 170 32.4% 62 32.2% benign(0.001) tolerated(0.8) neutral(0.001) HMMPfam_Metallophos,HMMSmart_SM00156,superfamily_Metallo-dependent phosphatases CCDC8 83987 genome.wustl.edu 37 19 46915816 46915816 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032040.3 -1 validated p.Q84H 0.992 44 0% 70 10% 66 4.5% probably_damaging(0.965) deleterious(0.01) deleterious(0.812) NULL ENSG00000248985 0 genome.wustl.edu 37 19 46971572 46971572 + RNA SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000503237 +1 novel NULL 0.001 17 0% 39 28.2% 0 - - - - - PNMAL1 55228 genome.wustl.edu 37 19 46973122 46973122 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018215.3 -1 validated p.K391E 0.995 85 0% 124 37.9% 2 50% possibly_damaging(0.5) deleterious(0) deleterious(0.612) NULL ENSG00000230510 0 genome.wustl.edu 37 19 47028928 47028928 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000414155 -1 known p.A114T 1.000 40 0% 86 30.2% 1 0% probably_damaging(0.993) deleterious(0.01) deleterious(0.856) HMMPfam_PPP5 FKRP 79147 genome.wustl.edu 37 19 47258875 47258875 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001039885.2 +1 reviewed p.F56 0.999 36 0% 30 43.3% 8 25% - - - NULL ARHGAP35 2909 genome.wustl.edu 37 19 47422931 47422931 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004491.4 +1 reviewed p.I333 0.722 30 0% 59 28.8% 9 33.3% - - - NULL ZC3H4 23211 genome.wustl.edu 37 19 47572493 47572493 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015168.1 -1 validated p.P752S 1.000 48 0% 59 47.5% 10 10% possibly_damaging(0.797) tolerated(0.44) neutral(0.312) NULL SAE1 10055 genome.wustl.edu 37 19 47634280 47634280 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000270225 +1 known p.Q31H 1.000 27 0% 56 39.3% 66 43.9% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Activating enzymes of the ubiquitin-like proteins C5AR1 728 genome.wustl.edu 37 19 47823431 47823431 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001736.3 +1 validated p.D133N 1.000 54 0% 108 35.2% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like MEIS3 56917 genome.wustl.edu 37 19 47912805 47912805 + Splice_Site SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020160.1 -1 validated e7-1 1.000 62 0% 81 34.6% 0 - - - - - NAPA 8775 genome.wustl.edu 37 19 48018114 48018114 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003827.2 -1 reviewed p.F28L 1.000 40 0% 68 25% 144 36.8% benign(0.002) tolerated(0.63) neutral(0.004) superfamily_TPR-like ZNF541 84215 genome.wustl.edu 37 19 48024611 48024611 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001101419.1 -1 validated p.R1323Q 0.998 139 0% 194 34% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF541 84215 genome.wustl.edu 37 19 48043055 48043055 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001101419.1 -1 validated p.K901N 0.875 59 0% 152 30.9% 0 - benign(0.372) tolerated(0.07) neutral(0.438) NULL GLTSCR1 29998 genome.wustl.edu 37 19 48197901 48197901 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015711.3 +1 provisional p.P938L 0.695 16 0% 34 23.5% 2 50% possibly_damaging(0.922) tolerated(0.08) deleterious(0.671) NULL EHD2 30846 genome.wustl.edu 37 19 48229328 48229328 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014601.3 +1 reviewed p.I254 1.000 21 0% 36 36.1% 28 10.7% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases EHD2 30846 genome.wustl.edu 37 19 48239625 48239625 + Splice_Site SNP G G T rs111648404 byCluster TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014601.3 +1 reviewed e4-1 1.000 67 0% 119 26.9% 0 - - - - - BSPH1 100131137 genome.wustl.edu 37 19 48495320 48495320 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001128326.2 -1 validated p.L7I 0.000 80 0% 170 35.9% 0 - possibly_damaging(0.873) - - NULL PLA2G4C 8605 genome.wustl.edu 37 19 48565258 48565258 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003706.2 -1 reviewed p.F418 0.823 43 0% 101 30.7% 2 0% - - - HMMSmart_PLAc,superfamily_Acyl_Trfase/lysoPlipase PLA2G4C 8605 genome.wustl.edu 37 19 48598787 48598787 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003706.2 -1 reviewed p.G215R 0.841 86 0% 193 28% 4 25% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PLA2_B,HMMSmart_PLAc,superfamily_Acyl_Trfase/lysoPlipase LIG1 3978 genome.wustl.edu 37 19 48631212 48631212 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000234.1 -1 reviewed p.K629N 1.000 181 0% 287 35.9% 54 35.1% benign(0.003) tolerated(0.26) neutral(0.034) HMMPfam_DNA_ligase_A_M,superfamily_DNA ligase/mRNA capping enzyme catalytic domain KCNJ14 3770 genome.wustl.edu 37 19 48967726 48967726 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013348.2 +1 reviewed p.L335I 1.000 110 0% 190 36.3% 3 33.3% benign(0.015) tolerated(0.2) neutral(0.050) HMMPfam_IRK,superfamily_Ig_E-set CYTH2 9266 genome.wustl.edu 37 19 48978114 48978114 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017457.4 +1 reviewed p.R239Q 0.987 135 0% 201 31.3% 128 39% benign(0.067) deleterious(0.03) neutral(0.369) HMMPfam_Sec7,HMMSmart_SM00222,superfamily_Sec7 domain SULT2B1 6820 genome.wustl.edu 37 19 49102445 49102445 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_177973.1 +1 reviewed p.D294N 0.989 22 0% 18 33.3% 15 40% possibly_damaging(0.924) tolerated(0.08) deleterious(0.673) HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases NTN5 126147 genome.wustl.edu 37 19 49166744 49166744 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145807.1 -1 provisional p.R361W 0.007 97 0% 160 35% 6 83.3% probably_damaging(0.986) deleterious(0) deleterious(0.879) superfamily_TIMP-like,HMMPfam_NTR,HMMSmart_SM00643 MAMSTR 284358 genome.wustl.edu 37 19 49216577 49216577 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001130915.1 -1 validated p.L399V 1.000 20 0% 31 41.9% 6 33.3% unknown(0) deleterious(0) - NULL NUCB1 4924 genome.wustl.edu 37 19 49416428 49416428 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006184.5 +1 reviewed p.R214H 1.000 87 0% 193 32.6% 497 41.6% probably_damaging(0.981) deleterious(0.02) deleterious(0.808) NULL DHDH 27294 genome.wustl.edu 37 19 49447675 49447675 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014475.3 +1 reviewed p.P269L 0.838 37 0% 87 33.3% 0 - possibly_damaging(0.794) deleterious(0.05) deleterious(0.643) superfamily_SSF55347 CGB5 93659 genome.wustl.edu 37 19 49548360 49548360 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033043.1 +1 reviewed p.A103T 1.000 102 0% 189 22.2% 0 - benign(0.186) deleterious(0) neutral(0.462) HMMSmart_SM00068,HMMPfam_Cys_knot,PatternScan_GLYCO_HORMONE_BETA_2,superfamily_Cystine-knot cytokines NTF4 4909 genome.wustl.edu 37 19 49564674 49564674 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006179.4 -1 reviewed p.R194Q 1.000 34 0% 20 20% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_NGF,HMMSmart_NGF,superfamily_SSF57501 SNRNP70 6625 genome.wustl.edu 37 19 49604717 49604717 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003089.4 +1 validated p.R155Q 1.000 36 0% 63 42.9% 287 35.5% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD TRPM4 54795 genome.wustl.edu 37 19 49714028 49714028 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017636.2 +1 provisional p.E1130D 1.000 16 0% 29 37.9% 53 49% probably_damaging(1) tolerated(0.1) deleterious(0.786) NULL TEAD2 8463 genome.wustl.edu 37 19 49862699 49862699 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003598.1 -1 provisional p.R97Q 1.000 155 1.3% 266 35% 74 31% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TEA,HMMSmart_TEA,PatternScan_TEA_1 RRAS 6237 genome.wustl.edu 37 19 50139911 50139911 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006270.3 -1 provisional p.V140F 0.997 48 0% 89 25.8% 91 23% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases CPT1C 126129 genome.wustl.edu 37 19 50208311 50208311 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152359.1 +1 provisional p.G273 0.224 50 0% 82 31.7% 5 0% - - - HMMPfam_Carn_acyltransf,superfamily_CoA-dependent acyltransferases CPT1C 126129 genome.wustl.edu 37 19 50216854 50216854 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152359.1 +1 provisional p.D802N 0.000 32 0% 64 25% 11 0% benign(0) tolerated(1) - NULL TSKS 60385 genome.wustl.edu 37 19 50247576 50247576 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021733.1 -1 reviewed p.G425R 1.000 52 0% 84 28.6% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL NUP62 23636 genome.wustl.edu 37 19 50411745 50411745 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012346.3 -1 reviewed p.I440 0.994 180 0% 294 38.1% 60 40% - - - NULL SIGLEC16 400709 genome.wustl.edu 37 19 50474962 50474962 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000417280 +1 known p.N366D 0.059 149 0% 261 22.2% 1 0% probably_damaging(1) tolerated(0.4) deleterious(0.516) superfamily_Immunoglobulin MYH14 79784 genome.wustl.edu 37 19 50789902 50789902 + Missense_Mutation SNP G G A rs150029590 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001077186.1 +1 reviewed p.R1535Q 1.000 31 0% 52 46.2% 40 37.5% probably_damaging(0.993) tolerated(0.71) neutral(0.452) HMMPfam_Myosin_tail_1,superfamily_Prefoldin SPIB 6689 genome.wustl.edu 37 19 50926118 50926118 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003121.3 +1 validated p.A55T 0.004 29 0% 43 25.6% 1 0% benign(0.147) tolerated(0.4) neutral(0.029) NULL MYBPC2 4606 genome.wustl.edu 37 19 50961923 50961923 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004533.3 +1 validated p.R806S 0.985 28 0% 35 40% 2 0% benign(0.34) deleterious(0.02) deleterious(0.490) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like ASPDH 554235 genome.wustl.edu 37 19 51015427 51015427 + Silent SNP G G A rs184745585 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001114598.1 -1 validated p.S258 0.935 16 0% 32 53.1% 0 - - - - HMMPfam_DUF108 SYT3 84258 genome.wustl.edu 37 19 51133284 51133284 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032298.2 -1 validated p.E273 1.000 66 0% 84 35.7% 0 - - - - NULL GPR32 2854 genome.wustl.edu 37 19 51274119 51274119 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001506.1 +1 provisional p.D88N 1.000 174 0% 475 35.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_7tm_1,superfamily_SSF81321 LOC390956 390956 genome.wustl.edu 37 19 51430665 51430665 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_372741.4 -1 model p.R77K 1.000 20 0% 33 21.2% 105 0% - - - HMMPfam_Pro_isomerase,PatternScan_CSA_PPIASE_1,superfamily_Cyclophilin-like KLK10 5655 genome.wustl.edu 37 19 51518158 51518158 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001077500.1 -1 reviewed p.L243 0.777 101 0% 163 35% 2 100% - - - HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases KLK13 26085 genome.wustl.edu 37 19 51563229 51563229 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015596.1 -1 reviewed p.H121N 1.000 93 0% 187 32.6% 0 - possibly_damaging(0.746) tolerated(0.16) neutral(0.334) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases SIGLEC7 27036 genome.wustl.edu 37 19 51647721 51647721 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014385.2 +1 validated p.Q164H 0.011 162 0% 201 39.8% 1 0% possibly_damaging(0.604) tolerated(0.13) neutral(0.462) HMMSmart_SM00409,HMMPfam_C2-set_2,superfamily_Immunoglobulin SIGLEC7 27036 genome.wustl.edu 37 19 51648175 51648175 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014385.2 +1 validated p.P240H 0.021 133 0% 124 13.7% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Immunoglobulin SIGLEC7 27036 genome.wustl.edu 37 19 51656400 51656400 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014385.2 +1 validated p.E434D 0.002 98 0% 171 41.5% 3 0% possibly_damaging(0.861) deleterious(0) deleterious(0.778) NULL SIGLEC8 27181 genome.wustl.edu 37 19 51958912 51958912 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014442.2 -1 validated p.L271I 0.025 84 0% 107 29% 0 - probably_damaging(0.966) tolerated(0.2) neutral(0.457) HMMSmart_SM00409,superfamily_Immunoglobulin SIGLEC8 27181 genome.wustl.edu 37 19 51961515 51961515 + Missense_Mutation SNP C C G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014442.2 -1 validated p.V43L 0.009 152 0% 268 35.4% 0 - possibly_damaging(0.806) tolerated(0.1) deleterious(0.590) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin CEACAM18 729767 genome.wustl.edu 37 19 51984898 51984898 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080405.1 +1 provisional p.R279C 0.000 151 0% 220 33.2% 0 - possibly_damaging(0.92) deleterious(0.02) deleterious(0.754) HMMSmart_SM00409,superfamily_Immunoglobulin SIGLEC12 89858 genome.wustl.edu 37 19 52003562 52003562 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033329.1 -1 reviewed p.F22L 0.001 77 0% 91 38.5% 0 - - - - NULL SIGLEC12 89858 genome.wustl.edu 37 19 52004758 52004758 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_053003.2 -1 reviewed p.A77V 0.770 123 0% 162 27.8% 1 0% possibly_damaging(0.891) deleterious(0) deleterious(0.795) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin SIGLEC14 100049587 genome.wustl.edu 37 19 52147047 52147047 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001098612.1 -1 validated p.I333V 0.226 65 0% 110 32.7% 2 0% benign(0.001) tolerated(0.13) neutral(0.253) superfamily_SSF48726 ZNF577 84765 genome.wustl.edu 37 19 52376124 52376124 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032679.2 -1 validated p.E373D 0.881 67 0% 102 27.5% 3 33.3% benign(0.014) deleterious(0) neutral(0.445) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF649 65251 genome.wustl.edu 37 19 52394568 52394568 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_023074.3 -1 validated p.K274T 0.000 181 0% 322 31.4% 17 70.5% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF615 284370 genome.wustl.edu 37 19 52496175 52496175 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198480.2 -1 provisional p.A718 0.001 214 0% 293 21.2% 9 11.1% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF615 284370 genome.wustl.edu 37 19 52505083 52505083 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198480.2 -1 provisional p.Y74C 0.000 261 0% 382 32.5% 2 0% possibly_damaging(0.66) tolerated(0.17) neutral(0.292) NULL ZNF432 9668 genome.wustl.edu 37 19 52538418 52538418 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014650.2 -1 provisional p.E172* 0.000 125 0% 186 31.2% 4 75% - - - NULL ZNF841 284371 genome.wustl.edu 37 19 52569250 52569250 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001136499.1 -1 validated p.E629K 0.307 135 0% 286 31.1% 13 53.8% possibly_damaging(0.88) tolerated(0.09) deleterious(0.639) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF616 90317 genome.wustl.edu 37 19 52619047 52619047 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178523.3 -1 validated p.R457K 0.000 221 0% 296 29.7% 1 0% benign(0.133) tolerated(0.28) neutral(0.042) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF616 90317 genome.wustl.edu 37 19 52619551 52619551 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178523.3 -1 validated p.R289I 0.437 119 0% 161 32.9% 4 50% probably_damaging(0.992) tolerated(0.18) deleterious(0.504) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF616 90317 genome.wustl.edu 37 19 52620083 52620083 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178523.3 -1 validated p.P112S 0.000 326 0% 519 34.3% 2 0% benign(0.427) tolerated(0.67) neutral(0.142) NULL ZNF836 162962 genome.wustl.edu 37 19 52658375 52658375 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001102657.1 -1 provisional p.R854I 0.001 179 0% 293 35.5% 9 33.3% probably_damaging(1) tolerated(0.22) deleterious(0.542) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 PPP2R1A 5518 genome.wustl.edu 37 19 52705200 52705200 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014225.5 +1 reviewed p.R28C 0.995 95 0% 147 38.1% 167 46.7% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat ZNF766 90321 genome.wustl.edu 37 19 52793402 52793402 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001010851.2 +1 validated p.E120* 0.000 90 0% 225 32.4% 5 60% - - - NULL ZNF766 90321 genome.wustl.edu 37 19 52794016 52794016 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001010851.2 +1 validated p.E324D 1.000 75 0% 106 43.4% 13 23% possibly_damaging(0.906) deleterious(0.02) deleterious(0.742) superfamily_C2H2 and C2HC zinc fingers ZNF480 147657 genome.wustl.edu 37 19 52825722 52825722 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144684.2 +1 validated p.V407L 0.000 73 0% 123 36.6% 1 0% possibly_damaging(0.882) deleterious(0.02) deleterious(0.728) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF610 162963 genome.wustl.edu 37 19 52869134 52869134 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173530.2 +1 validated p.S168Y 0.018 43 0% 97 33% 4 25% benign(0.001) tolerated(1) - NULL ZNF880 400713 genome.wustl.edu 37 19 52887116 52887116 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145434.1 +1 validated p.L95V 0.000 75 0% 132 25% 11 45.4% benign(0.004) tolerated(0.45) neutral(0.012) NULL ZNF528 84436 genome.wustl.edu 37 19 52918803 52918803 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032423.2 +1 validated p.R233I 0.000 113 0% 218 29.8% 1 0% possibly_damaging(0.714) tolerated(0.19) neutral(0.307) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF528 84436 genome.wustl.edu 37 19 52919387 52919387 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032423.2 +1 validated p.R428* 0.000 112 0% 226 28.8% 2 50% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF534 147658 genome.wustl.edu 37 19 52941178 52941178 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001143939.1 +1 validated p.V168 0.019 144 0% 202 34.7% 0 - - - - superfamily_SSF57667 ZNF534 147658 genome.wustl.edu 37 19 52942303 52942303 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001143939.1 +1 validated p.V543 0.021 124 0% 232 28.9% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF578 147660 genome.wustl.edu 37 19 53015310 53015310 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001099694.1 +1 validated p.R559I 1.000 82 0% 138 24.6% 0 - probably_damaging(0.991) tolerated(0.29) deleterious(0.473) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ENSG00000248326 0 genome.wustl.edu 37 19 53016104 53016104 + RNA SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000502966 -1 novel NULL 0.008 19 0% 53 45.3% 3 0% - - - - ZNF600 162966 genome.wustl.edu 37 19 53270128 53270128 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198457.2 -1 validated p.R294I 0.994 129 0% 219 37.4% 2 50% benign(0.047) tolerated(0.21) neutral(0.047) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF600 162966 genome.wustl.edu 37 19 53270577 53270577 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198457.2 -1 validated p.P144 0.002 253 0% 396 32.8% 2 0% - - - NULL ENSG00000245932 0 genome.wustl.edu 37 19 53302212 53302212 + RNA SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000500436 +1 known NULL 0.000 94 0% 151 25.2% 8 75% - - - - ENSG00000245932 0 genome.wustl.edu 37 19 53302762 53302762 + RNA SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000500436 +1 known NULL 0.064 114 0% 171 35.7% 2 0% - - - - ZNF28 7576 genome.wustl.edu 37 19 53311356 53311356 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000360272 -1 known p.E16* 0.879 264 0% 543 38.1% 1 0% - - - HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF816 125893 genome.wustl.edu 37 19 53454671 53454671 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001031665.1 -1 validated p.E119D 0.000 187 0% 350 34.6% 5 60% probably_damaging(0.957) tolerated(0.47) neutral(0.412) NULL ZNF415 55786 genome.wustl.edu 37 19 53619657 53619657 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018355.2 -1 validated p.F15L 0.052 187 0% 235 35.3% 3 33.3% probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box ZNF818P 390963 genome.wustl.edu 37 19 53716415 53716415 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000344759 +1 known p.K59N 0.941 12 0% 12 41.7% 2 0% - - - NULL ZNF677 342926 genome.wustl.edu 37 19 53741069 53741069 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182609.2 -1 provisional p.S304L 0.000 157 0% 272 33.8% 0 - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF677 342926 genome.wustl.edu 37 19 53741551 53741551 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182609.2 -1 provisional p.F143L 0.019 365 0% 570 34.9% 0 - benign(0.004) tolerated(1) - NULL VN1R2 317701 genome.wustl.edu 37 19 53762056 53762056 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173856.2 +1 validated p.R143I 0.046 150 0% 156 29.5% 0 - benign(0.026) deleterious(0.02) neutral(0.384) superfamily_SSF81321 ZNF845 91664 genome.wustl.edu 37 19 53854163 53854163 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138374.1 +1 validated p.R79C 0.000 138 0% 263 31.2% 1 0% probably_damaging(0.991) tolerated(0.18) deleterious(0.500) NULL ZNF525 170958 genome.wustl.edu 37 19 53884527 53884527 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000474037 +1 known p.K232T 0.005 126 0% 131 32.8% 0 - probably_damaging(0.971) tolerated(0.42) neutral(0.427) HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF765 91661 genome.wustl.edu 37 19 53911569 53911569 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001040185.1 +1 provisional p.S254L 0.000 118 0% 245 32.7% 2 100% benign(0) tolerated(0.1) neutral(0.286) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF765 91661 genome.wustl.edu 37 19 53911761 53911761 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001040185.1 +1 provisional p.R318M 0.023 96 0% 137 24.8% 0 - possibly_damaging(0.76) deleterious(0.01) deleterious(0.687) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF813 126017 genome.wustl.edu 37 19 53993988 53993988 + Missense_Mutation SNP A A G rs56187530 TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004301.3 +1 validated p.I168V 0.000 63 0% 205 41.5% 0 - benign(0.001) tolerated(0.91) - NULL MIR515-2 574465 genome.wustl.edu 37 19 54188336 54188336 + RNA SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000384883 +1 known NULL 0.013 218 0% 456 30% 0 - - - - - MIR520B 574473 genome.wustl.edu 37 19 54204520 54204520 + RNA SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000384989 +1 known NULL 0.160 82 0% 198 37.4% 0 - - - - - MIR519D 574480 genome.wustl.edu 37 19 54216635 54216635 + RNA SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000385246 +1 known NULL 0.016 180 0% 361 34.6% 0 - - - - - MIR516A1 574498 genome.wustl.edu 37 19 54260045 54260045 + RNA SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000385033 +1 known NULL 0.288 115 0% 259 28.2% 0 - - - - - NLRP12 91662 genome.wustl.edu 37 19 54314361 54314361 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144687.2 -1 reviewed p.A184 0.000 48 0% 75 36% 0 - - - - NULL NLRP12 91662 genome.wustl.edu 37 19 54327374 54327374 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144687.2 -1 reviewed p.E19* 0.977 45 0% 65 43.1% 0 - - - - HMMPfam_PAAD_DAPIN,superfamily_DEATH domain PRPF31 26121 genome.wustl.edu 37 19 54631562 54631562 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015629.3 +1 reviewed p.R354* 1.000 21 0% 29 24.1% 48 4.1% - - - HMMPfam_Prp31_C LILRB5 10990 genome.wustl.edu 37 19 54760075 54760075 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001081442.1 -1 reviewed p.L162 0.000 99 0% 134 29.9% 0 - - - - HMMSmart_SM00409,superfamily_Immunoglobulin LILRB5 10990 genome.wustl.edu 37 19 54760399 54760399 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001081442.1 -1 reviewed p.P103H 0.000 128 0% 170 41.2% 0 - benign(0.072) tolerated(0.08) neutral(0.305) HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Immunoglobulin LILRA3 11026 genome.wustl.edu 37 19 54802042 54802042 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006865.3 -1 validated p.F382L 0.001 145 0% 184 23.9% 1 0% probably_damaging(0.979) deleterious(0) deleterious(0.867) HMMSmart_IG,HMMPfam_ig,superfamily_SSF48726 LILRA3 11026 genome.wustl.edu 37 19 54804212 54804212 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000391745 -1 known p.L5F 0.000 258 0% 345 35.9% 0 - probably_damaging(0.968) deleterious(0) deleterious(0.855) NULL KIR3DX1 90011 genome.wustl.edu 37 19 55044295 55044295 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000335056 +1 known p.A23V 0.000 129 0% 176 33% 0 - benign(0) tolerated(1) - NULL LILRA2 11027 genome.wustl.edu 37 19 55086771 55086771 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001130917.1 +1 validated p.A235V 0.007 261 0% 277 36.8% 1 0% benign(0.041) tolerated(0.15) neutral(0.243) HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Immunoglobulin KIR2DL3 3804 genome.wustl.edu 37 19 55255310 55255310 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015868.2 +1 reviewed p.T146 0.010 196 0% 267 35.6% 0 - - - - HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin KIR2DS4 3809 genome.wustl.edu 37 19 55346538 55346538 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000339924 +1 known p.F13L 0.498 525 0% 871 31% 0 - benign(0.31) deleterious(0.02) deleterious(0.480) NULL KIR2DS4 3809 genome.wustl.edu 37 19 55349268 55349268 + Missense_Mutation SNP C C A rs10406301 byCluster;byFrequency TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000339924 +1 known p.S103Y 0.004 500 0.2% 791 32.5% 0 - possibly_damaging(0.829) deleterious(0) deleterious(0.759) superfamily_Immunoglobulin NLRP7 199713 genome.wustl.edu 37 19 55445014 55445014 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001127255.1 -1 reviewed p.K855N 0.222 202 0% 400 35.2% 0 - benign(0.011) tolerated(0.89) neutral(0.001) HMMSmart_SM00368,superfamily_RNI-like NLRP7 199713 genome.wustl.edu 37 19 55451447 55451447 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001127255.1 -1 reviewed p.R247I 0.001 98 0% 193 32.1% 0 - probably_damaging(0.99) deleterious(0.03) deleterious(0.806) HMMPfam_NACHT,superfamily_P-loop containing nucleoside triphosphate hydrolases NLRP2 55655 genome.wustl.edu 37 19 55481633 55481633 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017852.3 +1 validated p.L84M 0.070 70 0% 176 30.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PAAD_DAPIN,superfamily_DEATH domain NLRP2 55655 genome.wustl.edu 37 19 55494485 55494485 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017852.3 +1 validated p.L473 0.000 16 0% 34 47.1% 0 - - - - NULL NLRP2 55655 genome.wustl.edu 37 19 55496511 55496511 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017852.3 +1 validated p.S709 0.035 151 0% 387 35.7% 0 - - - - superfamily_RNI-like PPP1R12C 54776 genome.wustl.edu 37 19 55603227 55603227 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017607.2 -1 provisional p.F737 0.930 18 0% 34 38.2% 87 36.7% - - - NULL TNNI3 7137 genome.wustl.edu 37 19 55665425 55665425 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000363.4 -1 reviewed p.K174N 1.000 42 0% 48 33.3% 13 53.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Troponin TNNI3 7137 genome.wustl.edu 37 19 55665459 55665459 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000363.4 -1 reviewed p.A163D 1.000 50 0% 48 43.8% 12 33.3% benign(0.352) tolerated(0.13) neutral(0.364) HMMPfam_Troponin BRSK1 84446 genome.wustl.edu 37 19 55805753 55805753 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032430.1 +1 validated p.F222 0.820 160 0% 287 25.1% 0 - - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase FAM71E2 284418 genome.wustl.edu 37 19 55872370 55872370 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145402.1 -1 predicted p.K252N 0.001 96 0% 192 31.2% 0 - benign(0.025) tolerated(0.35) neutral(0.022) NULL SSC5D 284297 genome.wustl.edu 37 19 56011672 56011672 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001144950.1 +1 provisional p.S732I 0.000 34 0% 54 27.8% 11 0% benign(0.189) tolerated(0.1) neutral(0.304) NULL SSC5D 284297 genome.wustl.edu 37 19 56011871 56011871 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001144950.1 +1 provisional p.R773C 0.879 34 0% 75 29.3% 15 6.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00202,superfamily_SRCR-like SBK2 646643 genome.wustl.edu 37 19 56042528 56042528 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001101401.1 -1 provisional p.M146I 0.927 34 0% 58 39.7% 0 - benign(0) tolerated(0.51) neutral(0.009) superfamily_Kinase_like,HMMPfam_Pkinase NLRP9 338321 genome.wustl.edu 37 19 56223873 56223873 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_176820.2 -1 reviewed p.K862T 0.711 110 0% 217 32.3% 0 - probably_damaging(1) tolerated(0.15) deleterious(0.741) HMMSmart_SM00368,superfamily_RNI-like NLRP9 338321 genome.wustl.edu 37 19 56243861 56243861 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_176820.2 -1 reviewed p.L446M 0.000 70 0% 163 32.5% 0 - benign(0.003) tolerated(0.11) neutral(0.272) NULL RFPL4A 342931 genome.wustl.edu 37 19 56274265 56274265 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145014.1 +1 validated p.V196 0.001 343 0% 493 12.8% 0 - - - - HMMPfam_SPRY,HMMSmart_SPRY RFPL4A 342931 genome.wustl.edu 37 19 56274406 56274406 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145014.1 +1 validated p.E243 0.000 478 0% 672 13.7% 0 - - - - HMMPfam_SPRY,HMMSmart_SPRY ENSG00000229292 0 genome.wustl.edu 37 19 56283982 56283982 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000341750 +1 known p.D101N 0.393 107 0% 198 27.3% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00589 ENSG00000229292 0 genome.wustl.edu 37 19 56284269 56284269 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000341750 +1 known p.V196 0.000 270 0% 345 18.3% 0 - - - - HMMPfam_SPRY,HMMSmart_SM00449 NLRP11 204801 genome.wustl.edu 37 19 56297125 56297125 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145007.3 -1 validated p.E990* 0.104 128 0% 149 32.9% 1 0% - - - NULL NLRP11 204801 genome.wustl.edu 37 19 56300193 56300193 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145007.3 -1 validated p.D945E 0.000 148 0% 313 31.6% 0 - benign(0) tolerated(1) - superfamily_RNI-like NLRP11 204801 genome.wustl.edu 37 19 56329464 56329464 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145007.3 -1 validated p.F26C 0.003 150 0% 248 35.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PAAD_DAPIN,superfamily_DEATH domain NLRP4 147945 genome.wustl.edu 37 19 56363528 56363528 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_134444.4 +1 validated p.E28* 0.482 66 0% 148 36.5% 0 - - - - HMMPfam_PAAD_DAPIN,superfamily_DEATH domain NLRP4 147945 genome.wustl.edu 37 19 56369333 56369333 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_134444.4 +1 validated p.E192* 0.493 63 0% 111 36.9% 0 - - - - HMMPfam_NACHT,superfamily_P-loop containing nucleoside triphosphate hydrolases NLRP4 147945 genome.wustl.edu 37 19 56369611 56369611 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_134444.4 +1 validated p.P284 0.000 93 0% 176 35.2% 0 - - - - HMMPfam_NACHT NLRP4 147945 genome.wustl.edu 37 19 56370299 56370299 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_134444.4 +1 validated p.K514Q 0.000 160 0% 255 38.8% 0 - benign(0.043) tolerated(0.32) neutral(0.026) NULL NLRP4 147945 genome.wustl.edu 37 19 56392843 56392843 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_134444.4 +1 validated p.K959Q 0.000 68 0% 72 30.6% 0 - probably_damaging(0.991) tolerated(0.34) neutral(0.467) superfamily_RNI-like NLRP13 126204 genome.wustl.edu 37 19 56443422 56443422 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_176810.2 -1 validated p.L86I 0.008 58 0% 104 28.8% 0 - benign(0.061) deleterious(0.03) neutral(0.368) HMMPfam_PAAD_DAPIN,superfamily_DEATH_like NLRP13 126204 genome.wustl.edu 37 19 56443480 56443480 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_176810.2 -1 validated p.L66F 0.000 47 0% 98 26.5% 0 - benign(0) tolerated(0.08) neutral(0.300) HMMPfam_PAAD_DAPIN,superfamily_DEATH_like NLRP13 126204 genome.wustl.edu 37 19 56443488 56443488 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_176810.2 -1 validated p.D64N 0.000 45 0% 90 31.1% 0 - benign(0.227) tolerated(0.84) neutral(0.023) HMMPfam_PAAD_DAPIN,superfamily_DEATH_like NLRP8 126205 genome.wustl.edu 37 19 56459355 56459355 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_176811.2 +1 provisional p.F29L 0.000 225 0% 556 34% 0 - benign(0) deleterious(0) neutral(0.445) NULL NLRP8 126205 genome.wustl.edu 37 19 56459529 56459529 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_176811.2 +1 provisional p.L87 0.002 162 0% 351 35.3% 0 - - - - HMMPfam_PAAD_DAPIN,superfamily_DEATH domain NLRP5 126206 genome.wustl.edu 37 19 56538691 56538691 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153447.4 +1 reviewed p.F364 0.002 50 0% 93 39.8% 0 - - - - HMMPfam_NACHT,superfamily_SSF52540 NLRP5 126206 genome.wustl.edu 37 19 56539691 56539691 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153447.4 +1 reviewed p.E698* 0.010 72 0% 93 32.3% 0 - - - - NULL GALP 85569 genome.wustl.edu 37 19 56688550 56688550 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033106.3 +1 reviewed p.A25T 0.002 86 1.2% 120 29.2% 0 - unknown(0) - - NULL ZNF582 147948 genome.wustl.edu 37 19 56895610 56895610 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144690.1 -1 provisional p.E392D 1.000 164 0% 160 34.4% 0 - benign(0.224) tolerated(0.06) neutral(0.345) superfamily_SSF57667 ZNF583 147949 genome.wustl.edu 37 19 56934298 56934298 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152478.2 +1 validated p.K91E 0.047 51 0% 71 33.8% 4 25% benign(0.002) tolerated(0.38) neutral(0.018) NULL ZNF583 147949 genome.wustl.edu 37 19 56935336 56935336 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152478.2 +1 validated p.E437* 0.969 103 0% 132 28% 5 20% - - - HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF583 147949 genome.wustl.edu 37 19 56935439 56935439 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152478.2 +1 validated p.K471T 0.021 126 0% 154 27.3% 4 100% probably_damaging(0.983) deleterious(0) deleterious(0.873) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF471 57573 genome.wustl.edu 37 19 57035887 57035887 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020813.2 +1 validated p.E151* 0.001 104 0% 146 21.9% 0 - - - - NULL ZNF471 57573 genome.wustl.edu 37 19 57036620 57036620 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020813.2 +1 validated p.R395I 0.987 133 0% 168 32.7% 3 100% probably_damaging(0.983) deleterious(0.02) deleterious(0.812) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF471 57573 genome.wustl.edu 37 19 57036704 57036704 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020813.2 +1 validated p.R423I 1.000 162 0% 242 35.5% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZFP28 140612 genome.wustl.edu 37 19 57051087 57051087 + Splice_Site SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020828.1 +1 provisional e2+2 0.885 174 0% 358 31% 0 - - - - - ZFP28 140612 genome.wustl.edu 37 19 57061510 57061510 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020828.1 +1 provisional p.K254N 0.001 121 0% 175 42.9% 0 - possibly_damaging(0.911) deleterious(0) deleterious(0.807) HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box ZFP28 140612 genome.wustl.edu 37 19 57066108 57066108 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020828.1 +1 provisional p.K652E 0.998 151 0% 152 27.6% 5 0% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZFP28 140612 genome.wustl.edu 37 19 57066316 57066316 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020828.1 +1 provisional p.R721I 1.000 178 0% 228 37.3% 4 25% probably_damaging(1) tolerated(0.05) deleterious(0.845) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZFP28 140612 genome.wustl.edu 37 19 57066484 57066484 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020828.1 +1 provisional p.R777I 0.995 194 0% 247 33.2% 5 40% probably_damaging(0.99) tolerated(0.17) deleterious(0.500) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF835 90485 genome.wustl.edu 37 19 57175250 57175250 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005850.1 -1 provisional p.T461 0.001 39 0% 50 36% 1 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZIM2 23619 genome.wustl.edu 37 19 57286431 57286431 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015363.4 -1 reviewed p.V403 0.000 66 0% 96 31.2% 0 - - - - superfamily_SSF57667 PEG3-AS1 100169890 genome.wustl.edu 37 19 57324982 57324982 + RNA SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NR_023847.2 +1 validated NULL 0.000 66 0% 78 35.9% 1 0% - - - - PEG3 5178 genome.wustl.edu 37 19 57326007 57326007 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006210.2 -1 reviewed p.A1268V 0.340 104 0% 144 28.5% 0 - benign(0.014) tolerated(0.16) neutral(0.060) superfamily_C2H2 and C2HC zinc fingers PEG3 5178 genome.wustl.edu 37 19 57326722 57326722 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006210.2 -1 reviewed p.R1030W 0.000 225 0% 259 31.3% 1 0% benign(0.013) tolerated(0.21) neutral(0.044) NULL PEG3 5178 genome.wustl.edu 37 19 57326744 57326744 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006210.2 -1 reviewed p.E1022D 0.019 194 0% 237 26.6% 1 0% benign(0.251) deleterious(0.04) neutral(0.374) NULL PEG3 5178 genome.wustl.edu 37 19 57327758 57327758 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006210.2 -1 reviewed p.L684 0.012 133 0% 145 29% 0 - - - - superfamily_C2H2 and C2HC zinc fingers PEG3 5178 genome.wustl.edu 37 19 57335658 57335658 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006210.2 -1 reviewed p.E122D 0.296 100 0% 121 42.1% 0 - possibly_damaging(0.945) deleterious(0) deleterious(0.834) HMMPfam_SCAN,HMMSmart_SM00431 ZNF264 9422 genome.wustl.edu 37 19 57724221 57724221 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003417.4 +1 reviewed p.R586* 0.395 93 0% 132 31.8% 2 0% - - - NULL LOC100288211 100288211 genome.wustl.edu 37 19 57828640 57828640 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002343660.1 -1 model p.G97 1.000 105 0% 170 30.6% 0 - - - - HMMPfam_DUF862 LOC100288211 100288211 genome.wustl.edu 37 19 57828878 57828878 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002343660.1 -1 model p.K18T 1.000 135 0% 180 33.9% 0 - - - - HMMPfam_DUF862 ZNF543 125919 genome.wustl.edu 37 19 57839172 57839172 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_213598.3 +1 validated p.K114N 0.000 65 0% 126 36.5% 0 - benign(0.025) tolerated(0.53) neutral(0.009) NULL ZNF304 57343 genome.wustl.edu 37 19 57867682 57867682 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020657.2 +1 validated p.D149Y 0.000 77 0% 141 36.9% 3 66.6% benign(0.301) deleterious(0.04) neutral(0.442) NULL ZNF304 57343 genome.wustl.edu 37 19 57868159 57868159 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020657.2 +1 validated p.T308A 0.000 131 0% 197 37.6% 4 75% benign(0.073) tolerated(0.39) neutral(0.021) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF304 57343 genome.wustl.edu 37 19 57868301 57868301 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020657.2 +1 validated p.R355I 0.922 102 0% 159 37.1% 2 0% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF17 7565 genome.wustl.edu 37 19 57932599 57932599 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006959.2 +1 validated p.R580I 0.000 87 0% 171 32.2% 4 0% probably_damaging(0.979) deleterious(0) deleterious(0.867) superfamily_C2H2 and C2HC zinc fingers ZNF749 388567 genome.wustl.edu 37 19 57954743 57954743 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001023561.2 +1 provisional p.P76L 0.221 126 0% 230 38.3% 1 0% possibly_damaging(0.452) tolerated(0.21) neutral(0.192) NULL ZNF749 388567 genome.wustl.edu 37 19 57955756 57955756 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001023561.2 +1 provisional p.E414K 0.000 105 0% 194 26.8% 0 - probably_damaging(0.999) tolerated(0.06) deleterious(0.813) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF416 55659 genome.wustl.edu 37 19 58083923 58083923 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017879.1 -1 provisional p.R450I 0.000 131 0% 162 36.4% 5 60% possibly_damaging(0.715) tolerated(0.18) neutral(0.315) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZSCAN4 201516 genome.wustl.edu 37 19 58187629 58187629 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152677.2 +1 validated p.I39S 0.000 142 0% 251 31.9% 0 - possibly_damaging(0.482) deleterious(0.02) deleterious(0.543) HMMPfam_SCAN ZNF551 90233 genome.wustl.edu 37 19 58199631 58199631 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138347.3 +1 validated p.R647I 0.000 113 0% 152 37.5% 0 - possibly_damaging(0.828) tolerated(0.1) deleterious(0.601) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF154 7710 genome.wustl.edu 37 19 58213908 58213908 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001085384.1 -1 validated p.E137K 0.000 178 0% 285 29.5% 0 - possibly_damaging(0.926) deleterious(0.02) deleterious(0.758) NULL ZNF587 84914 genome.wustl.edu 37 19 58350492 58350492 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002343662.1 +1 model p.E46D 0.937 153 0% 390 30% 1 100% possibly_damaging(0.948) deleterious(0) deleterious(0.836) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF418 147686 genome.wustl.edu 37 19 58439133 58439133 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_133460.1 -1 provisional p.S139N 0.037 208 0% 435 30.1% 0 - benign(0.099) tolerated(0.11) neutral(0.279) NULL ZNF256 10172 genome.wustl.edu 37 19 58453270 58453270 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005773.2 -1 validated p.K302 0.117 109 0% 171 33.9% 5 60% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF606 80095 genome.wustl.edu 37 19 58489781 58489781 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025027.3 -1 validated p.R756I 1.000 156 0% 258 35.7% 9 66.6% possibly_damaging(0.664) tolerated(0.16) neutral(0.294) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZSCAN18 65982 genome.wustl.edu 37 19 58596411 58596411 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145542.1 -1 validated p.A448T 0.001 23 0% 26 42.3% 33 63.6% benign(0.017) tolerated(0.6) neutral(0.005) NULL ZNF497 162968 genome.wustl.edu 37 19 58868338 58868338 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198458.1 -1 provisional p.E222K 0.026 9 0.000 27 0.370 6 16.6% possibly_damaging(0.878) tolerated(0.09) deleterious(0.639) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF132 7691 genome.wustl.edu 37 19 58945207 58945207 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003433.3 -1 validated p.R535I 0.005 159 0% 231 41.6% 1 0% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF132 7691 genome.wustl.edu 37 19 58945795 58945795 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003433.3 -1 validated p.R339I 0.984 100 0% 156 31.4% 1 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF132 7691 genome.wustl.edu 37 19 58946575 58946575 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003433.3 -1 validated p.S79Y 0.041 27 0% 33 27.3% 1 0% benign(0.001) tolerated(1) - HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF132 7691 genome.wustl.edu 37 19 58948423 58948423 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003433.3 -1 validated p.T75A 0.021 76 0% 177 33.9% 1 0% possibly_damaging(0.653) tolerated(0.83) neutral(0.230) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF324B 388569 genome.wustl.edu 37 19 58966461 58966461 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000391696 +1 known p.L40 0.000 33 0% 61 36.1% 0 - - - - NULL ZNF324B 388569 genome.wustl.edu 37 19 58967502 58967502 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_207395.2 +1 validated p.F397 0.000 20 0% 29 34.5% 7 71.4% - - - HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SLC27A5 10998 genome.wustl.edu 37 19 59012749 59012749 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012254.2 -1 reviewed p.F362L 1.000 61 0% 127 36.2% 0 - possibly_damaging(0.942) deleterious(0) deleterious(0.832) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like MZF1 7593 genome.wustl.edu 37 19 59074680 59074680 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003422.2 -1 validated p.P322T 0.001 15 0% 36 41.7% 13 30.7% benign(0) deleterious(0) neutral(0.445) NULL TBC1D20 128637 genome.wustl.edu 37 20 419792 419792 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144628.2 -1 validated p.E306K 0.893 99 0% 227 29.1% 28 42.8% benign(0.001) tolerated(1) - NULL RAD21L1 642636 genome.wustl.edu 37 20 1223296 1223296 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001136566.2 +1 validated p.R297I 0.998 76 0% 89 29.2% 0 - possibly_damaging(0.816) deleterious(0) deleterious(0.753) NULL RAD21L1 642636 genome.wustl.edu 37 20 1223764 1223764 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001136566.2 +1 validated p.S369 0.716 221 0% 196 37.8% 0 - - - - NULL SDCBP2 27111 genome.wustl.edu 37 20 1294124 1294124 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_080489.3 -1 validated p.G82R 0.001 22 0% 12 33.3% 2 0% benign(0.408) tolerated(0.23) neutral(0.174) NULL NSFL1C 55968 genome.wustl.edu 37 20 1426309 1426309 + Splice_Site SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016143.3 -1 reviewed e8+2 1.000 150 0% 227 25.6% 7 85.7% - - - - SIRPB2 284759 genome.wustl.edu 37 20 1457957 1457957 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000381628 -1 known p.S198* 0.004 157 0% 201 34.3% 0 - - - - NULL SIRPB1 10326 genome.wustl.edu 37 20 1546832 1546832 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006065.3 -1 reviewed p.A389V 0.000 176 0% 204 31.4% 0 - possibly_damaging(0.753) tolerated(1) neutral(0.277) NULL PDYN 5173 genome.wustl.edu 37 20 1961108 1961108 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024411.2 -1 reviewed p.G209V 1.000 132 0% 147 31.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SNORD57 26792 genome.wustl.edu 37 20 2637646 2637646 + RNA SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NR_002738.1 +1 validated NULL 1.000 104 0% 270 35.6% 2 0% - - - - EBF4 57593 genome.wustl.edu 37 20 2690252 2690252 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001110514.1 +1 provisional p.R170Q 1.000 195 0% 284 34.9% 6 0% probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL EBF4 57593 genome.wustl.edu 37 20 2736357 2736357 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001110514.1 +1 provisional p.S538L 1.000 38 0% 54 38.9% 3 0% possibly_damaging(0.662) deleterious(0) deleterious(0.678) NULL CPXM1 56265 genome.wustl.edu 37 20 2776653 2776653 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019609.4 -1 reviewed p.T466N 0.745 127 0.8% 293 35.2% 122 0% benign(0.061) tolerated(0.3) neutral(0.033) HMMPfam_Peptidase_M14,HMMSmart_SM00631,superfamily_Zn-dependent exopeptidases VPS16 64601 genome.wustl.edu 37 20 2840907 2840907 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022575.2 +1 reviewed p.S88F 1.000 215 0% 489 35.6% 12 58.3% benign(0.113) tolerated(0.14) neutral(0.259) HMMPfam_Vps16_N VPS16 64601 genome.wustl.edu 37 20 2841684 2841684 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022575.2 +1 reviewed p.H233Q 1.000 90 0% 191 29.8% 29 55.1% benign(0.141) tolerated(0.05) neutral(0.357) HMMPfam_Vps16_N PTPRA 5786 genome.wustl.edu 37 20 2967463 2967463 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002836.3 +1 reviewed p.I165 0.894 324 0% 588 32.7% 10 40% - - - NULL PTPRA 5786 genome.wustl.edu 37 20 2985771 2985771 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002836.3 +1 reviewed p.R270* 1.000 318 0% 544 30.5% 10 10% - - - HMMPfam_Y_phosphatase,HMMSmart_PTPc,superfamily_SSF52799 UBOX5 22888 genome.wustl.edu 37 20 3102199 3102199 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014948.2 -1 validated p.Q362H 0.992 103 0% 233 33.5% 3 0% benign(0.044) tolerated(0.24) neutral(0.040) NULL UBOX5 22888 genome.wustl.edu 37 20 3103212 3103212 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014948.2 -1 validated p.E25K 1.000 67 0% 197 34% 1 100% probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL ENSG00000250798 0 genome.wustl.edu 37 20 3127402 3127402 + RNA SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000502279 +1 novel NULL 0.000 58 0% 114 37.7% 30 50% - - - - C20orf194 25943 genome.wustl.edu 37 20 3274898 3274898 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001009984.1 -1 validated p.L709I 1.000 81 0% 137 35% 1 100% possibly_damaging(0.645) deleterious(0.05) deleterious(0.572) NULL C20orf194 25943 genome.wustl.edu 37 20 3298955 3298955 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001009984.1 -1 validated p.Q483H 1.000 77 0% 123 34.1% 2 50% possibly_damaging(0.669) tolerated(0.16) neutral(0.296) NULL C20orf194 25943 genome.wustl.edu 37 20 3362095 3362095 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001009984.1 -1 validated p.L72I 1.000 166 0% 157 24.8% 3 33.3% probably_damaging(0.996) deleterious(0.04) deleterious(0.810) NULL C20orf194 25943 genome.wustl.edu 37 20 3363140 3363140 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001009984.1 -1 validated p.R33W 1.000 73 0% 98 26.5% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SIGLEC1 6614 genome.wustl.edu 37 20 3686562 3686562 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_023068.3 -1 reviewed p.D179N 1.000 56 0% 95 32.6% 0 - probably_damaging(1) tolerated(0.34) deleterious(0.523) HMMSmart_SM00409,HMMPfam_C2-set_2,superfamily_Immunoglobulin HSPA12B 116835 genome.wustl.edu 37 20 3731489 3731489 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_052970.3 +1 reviewed p.R447Q 1.000 117 0% 247 33.2% 2 0% probably_damaging(1) tolerated(0.09) deleterious(0.796) superfamily_SSF53067 AP5S1 55317 genome.wustl.edu 37 20 3804914 3804914 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018347.1 +1 predicted p.E191 1.000 47 0% 103 30.1% 8 62.5% - - - NULL SMOX 54498 genome.wustl.edu 37 20 4162787 4162787 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_175839.1 +1 reviewed p.A221T 1.000 21 0% 26 42.3% 14 28.5% benign(0.418) tolerated(0.3) neutral(0.164) HMMPfam_Amino_oxidase,superfamily_FAD/NAD(P)-binding domain SMOX 54498 genome.wustl.edu 37 20 4164168 4164168 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_175839.1 +1 reviewed p.R466Q 1.000 112 0.9% 159 29.6% 25 16% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_Amino_oxidase,superfamily_FAD/NAD(P)-binding domain,superfamily_FAD-linked reductases C-terminal domain SMOX 54498 genome.wustl.edu 37 20 4168031 4168031 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_175839.1 +1 reviewed p.D549Y 1.000 23 0% 27 48.1% 19 42.1% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_FAD/NAD(P)-binding domain PRNP 5621 genome.wustl.edu 37 20 4680289 4680289 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000311.3 +1 reviewed p.F141 0.977 57 0% 129 38.8% 9 22.2% - - - HMMPfam_Prion,HMMSmart_SM00157,superfamily_Prion-like PRNP 5621 genome.wustl.edu 37 20 4680478 4680478 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000311.3 +1 reviewed p.K204N 1.000 172 0% 373 33.5% 19 5.2% possibly_damaging(0.7) deleterious(0) deleterious(0.696) HMMPfam_Prion,HMMSmart_SM00157,PatternScan_PRION_2,superfamily_Prion-like PRNP 5621 genome.wustl.edu 37 20 4680598 4680598 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000311.3 +1 reviewed p.I244 1.000 87 0% 180 39.4% 18 5.5% - - - HMMPfam_Prion PRND 23627 genome.wustl.edu 37 20 4705514 4705514 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012409.2 +1 reviewed p.T106I 0.001 53 0% 51 27.5% 0 - possibly_damaging(0.647) tolerated(0.18) neutral(0.283) HMMPfam_Prion,superfamily_Prion-like RASSF2 9770 genome.wustl.edu 37 20 4770249 4770249 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014737.2 -1 reviewed p.K211T 1.000 188 0% 350 27.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RA,HMMSmart_RA SLC23A2 9962 genome.wustl.edu 37 20 4880332 4880332 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005116.5 -1 reviewed p.T117 0.035 77 0% 156 35.3% 2 50% - - - HMMPfam_Xan_ur_permease PROKR2 128674 genome.wustl.edu 37 20 5294688 5294688 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144773.2 -1 reviewed p.E110K 0.998 160 0% 303 34% 0 - probably_damaging(0.965) tolerated(0.87) neutral(0.407) HMMPfam_7tm_1,superfamily_SSF81321 C20orf196 149840 genome.wustl.edu 37 20 5843908 5843908 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152504.2 +1 predicted p.K139N 0.067 87 1.1% 122 35.2% 11 63.6% benign(0.315) deleterious(0.03) neutral(0.463) NULL TRMT6 51605 genome.wustl.edu 37 20 5927167 5927167 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015939.3 -1 reviewed p.F47 1.000 168 0% 253 26.9% 11 36.3% - - - HMMPfam_Gcd10p CRLS1 54675 genome.wustl.edu 37 20 6017753 6017753 + Silent SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019095.4 +1 validated p.A285 0.971 123 0% 242 25.2% 80 35% - - - NULL FERMT1 55612 genome.wustl.edu 37 20 6077663 6077663 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017671.4 -1 reviewed p.L325 1.000 79 0% 120 32.5% 0 - - - - HMMPfam_FERM_M,superfamily_Second domain of FERM,HMMSmart_SM00295 BMP2 650 genome.wustl.edu 37 20 6750845 6750845 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001200.2 +1 reviewed p.L24 1.000 24 0% 23 47.8% 0 - - - - NULL BMP2 650 genome.wustl.edu 37 20 6758937 6758937 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001200.2 +1 reviewed p.R131I 1.000 59 1.7% 35 40% 0 - probably_damaging(0.969) deleterious(0) deleterious(0.856) HMMPfam_TGFb_propeptide TMX4 56255 genome.wustl.edu 37 20 7980450 7980450 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021156.2 -1 provisional p.Q132H 1.000 132 0% 78 34.6% 6 50% probably_damaging(0.992) tolerated(0.11) deleterious(0.719) superfamily_Thiordxn-like_fd,HMMPfam_Thioredoxin TMX4 56255 genome.wustl.edu 37 20 7980461 7980461 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021156.2 -1 provisional p.E129K 0.867 139 0% 81 25.9% 9 22.2% benign(0.101) tolerated(0.33) neutral(0.032) superfamily_Thiordxn-like_fd,HMMPfam_Thioredoxin PLCB4 5332 genome.wustl.edu 37 20 9318689 9318689 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000933.3 +1 reviewed p.S67N 1.000 221 0% 151 41.1% 4 100% probably_damaging(0.982) deleterious(0.01) deleterious(0.832) superfamily_SSF50729 PLCB4 5332 genome.wustl.edu 37 20 9365024 9365024 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000933.3 +1 reviewed p.E344* 1.000 219 0% 269 32% 10 40% - - - HMMPfam_PI-PLC-X,HMMSmart_PLCXc,superfamily_PLC-like_Pdiesterase_TIM-brl PLCB4 5332 genome.wustl.edu 37 20 9404501 9404501 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000933.3 +1 reviewed p.R797Q 1.000 119 0% 161 23.6% 5 40% probably_damaging(0.981) deleterious(0.01) deleterious(0.831) HMMSmart_C2,superfamily_C2_CaLB PLCB4 5332 genome.wustl.edu 37 20 9453996 9453996 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000933.3 +1 reviewed p.E1148G 1.000 34 0% 58 22.4% 9 44.4% probably_damaging(0.979) tolerated(0.07) deleterious(0.741) NULL LAMP5 24141 genome.wustl.edu 37 20 9495548 9495548 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012261.2 +1 validated p.L17I 0.990 204 0% 295 36.6% 8 12.5% probably_damaging(0.999) tolerated(0.06) deleterious(0.813) HMMPfam_Lamp SNAP25 6616 genome.wustl.edu 37 20 10279979 10279979 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003081.2 +1 reviewed p.I157 0.998 101 0% 125 28.8% 0 - - - - HMMPfam_SNARE,HMMSmart_SM00397 MKKS 8195 genome.wustl.edu 37 20 10386311 10386311 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018848.2 -1 reviewed p.L433I 0.008 107 0% 114 22.8% 40 27.5% benign(0.129) tolerated(0.49) neutral(0.021) HMMPfam_Cpn60_TCP1,superfamily_GroEL equatorial domain-like JAG1 182 genome.wustl.edu 37 20 10626109 10626109 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000214.2 -1 reviewed p.D670N 1.000 80 0% 125 30.4% 20 35% probably_damaging(0.996) tolerated(0.11) deleterious(0.733) HMMSmart_EGF_CA,PatternScan_EGF_CA,superfamily_SSF57196 JAG1 182 genome.wustl.edu 37 20 10653622 10653622 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000214.2 -1 reviewed p.E38D 1.000 30 0% 31 48.4% 5 80% possibly_damaging(0.8) deleterious(0.03) deleterious(0.665) HMMPfam_MNNL ISM1 140862 genome.wustl.edu 37 20 13260371 13260371 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_080826.1 +1 validated p.D157Y 0.998 71 0% 83 30.1% 4 25% probably_damaging(0.966) deleterious(0.01) deleterious(0.814) NULL ISM1 140862 genome.wustl.edu 37 20 13260442 13260442 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_080826.1 +1 validated p.Y180 0.988 77 1.3% 80 30% 2 0% - - - NULL SEL1L2 80343 genome.wustl.edu 37 20 13830178 13830178 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025229.1 -1 validated p.L674I 0.955 137 0% 208 27.9% 0 - possibly_damaging(0.942) tolerated(0.83) neutral(0.388) NULL SEL1L2 80343 genome.wustl.edu 37 20 13846120 13846120 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025229.1 -1 validated p.K482R 1.000 104 0% 121 35.5% 0 - benign(0.247) tolerated(1) neutral(0.025) NULL SEL1L2 80343 genome.wustl.edu 37 20 13894444 13894444 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025229.1 -1 validated p.S178* 0.990 245 0.4% 270 26.7% 0 - - - - HMMPfam_Sel1,HMMSmart_SEL1,superfamily_SSF81901 KIF16B 55614 genome.wustl.edu 37 20 16362393 16362393 + Splice_Site SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024704.3 -1 validated e18-1 1.000 341 0% 329 29.5% 0 - - - - - SNRPB2 6629 genome.wustl.edu 37 20 16721614 16721614 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003092.3 +1 reviewed p.P214 0.054 133 0% 119 31.1% 148 43.2% - - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD PCSK2 5126 genome.wustl.edu 37 20 17240914 17240914 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002594.2 +1 reviewed p.F69 1.000 167 0% 145 34.5% 0 - - - - superfamily_Protease propeptides/inhibitors PCSK2 5126 genome.wustl.edu 37 20 17240971 17240971 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002594.2 +1 reviewed p.Q88H 1.000 137 0% 98 29.6% 0 - benign(0) tolerated(0.19) neutral(0.050) superfamily_Protease propeptides/inhibitors PCSK2 5126 genome.wustl.edu 37 20 17339014 17339014 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002594.2 +1 reviewed p.R109* 1.000 164 0% 208 43.8% 0 - - - - NULL DSTN 11034 genome.wustl.edu 37 20 17581440 17581440 + Missense_Mutation SNP C C T rs138670114 TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006870.3 +1 reviewed p.R21C 1.000 79 0% 95 29.5% 158 34.8% benign(0.015) deleterious(0.01) neutral(0.406) HMMPfam_Cofilin_ADF,HMMSmart_SM00102,superfamily_Actin depolymerizing proteins DSTN 11034 genome.wustl.edu 37 20 17585273 17585273 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006870.3 +1 reviewed p.Q129* 1.000 193 0% 246 30.1% 317 39.7% - - - HMMPfam_Cofilin_ADF,HMMSmart_SM00102,superfamily_Actin depolymerizing proteins C20orf72 92667 genome.wustl.edu 37 20 17968818 17968818 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_052865.2 +1 predicted p.L247 1.000 72 0% 152 31.6% 11 45.4% - - - NULL CSRP2BP 57325 genome.wustl.edu 37 20 18165371 18165371 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020536.4 +1 reviewed p.L704 1.000 287 0% 435 30.8% 31 41.9% - - - HMMPfam_Acetyltransf_1,superfamily_Acyl_CoA_acyltransferase DZANK1 55184 genome.wustl.edu 37 20 18365049 18365049 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001099407.1 -1 validated p.D751E 0.228 112 0% 154 37% 3 66.6% probably_damaging(0.993) deleterious(0) deleterious(0.895) NULL SEC23B 10483 genome.wustl.edu 37 20 18506533 18506533 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006363.4 +1 reviewed p.R264Q 1.000 178 0% 275 33.8% 76 44.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sec23_trunk,superfamily_SSF53300,superfamily_SSF81995 SEC23B 10483 genome.wustl.edu 37 20 18511383 18511383 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006363.4 +1 reviewed p.R390I 1.000 172 0% 196 31.6% 60 43.3% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_Sec23_trunk,superfamily_SSF53300,superfamily_SSF81995 DTD1 92675 genome.wustl.edu 37 20 18724751 18724751 + Missense_Mutation SNP A A T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_080820.4 +1 reviewed p.K162M 1.000 59 0% 127 40.2% 36 47.2% probably_damaging(0.987) deleterious(0) deleterious(0.881) NULL SLC24A3 57419 genome.wustl.edu 37 20 19664950 19664950 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020689.3 +1 validated p.L344 1.000 164 0% 205 40% 2 0% - - - NULL SLC24A3 57419 genome.wustl.edu 37 20 19673952 19673952 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020689.3 +1 validated p.F458 0.996 115 0% 150 34% 5 0% - - - NULL CRNKL1 51340 genome.wustl.edu 37 20 20031197 20031197 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016652.4 -1 reviewed p.E202* 1.000 395 0% 586 32.1% 6 33.3% - - - NULL C20orf26 26074 genome.wustl.edu 37 20 20177249 20177249 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015585.3 +1 validated p.E542D 0.829 166 0% 256 35.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Acyl-CoA N-acyltransferases (Nat) C20orf26 26074 genome.wustl.edu 37 20 20226844 20226844 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015585.3 +1 validated p.K715T 0.994 248 0% 289 29.8% 0 - benign(0.005) tolerated(0.2) neutral(0.049) superfamily_FAD/NAD(P)-binding domain RALGAPA2 57186 genome.wustl.edu 37 20 20553704 20553704 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020343.2 -1 validated p.E906K 0.999 78 0% 122 25.4% 4 50% probably_damaging(0.973) deleterious(0.02) deleterious(0.798) NULL RALGAPA2 57186 genome.wustl.edu 37 20 20571959 20571959 + Splice_Site SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020343.2 -1 validated e17-1 1.000 76 0% 104 29.8% 0 - - - - - RALGAPA2 57186 genome.wustl.edu 37 20 20601238 20601238 + Silent SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000430436 -1 known p.Q240H 1.000 212 0% 268 42.5% 1 0% - - - NULL XRN2 22803 genome.wustl.edu 37 20 21319713 21319713 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012255.3 +1 reviewed p.R422I 1.000 238 0% 217 30.4% 29 31% benign(0.208) tolerated(0.09) neutral(0.317) NULL XRN2 22803 genome.wustl.edu 37 20 21369960 21369960 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012255.3 +1 reviewed p.R946K 1.000 260 0% 291 29.6% 56 32.1% probably_damaging(0.971) deleterious(0) deleterious(0.857) NULL PAX1 5075 genome.wustl.edu 37 20 21687464 21687464 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006192.3 +1 validated p.I225 0.977 29 0% 32 37.5% 0 - - - - NULL FOXA2 3170 genome.wustl.edu 37 20 22562657 22562657 + Missense_Mutation SNP A A T rs7351141 TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021784.4 -1 reviewed p.L408H 1.000 569 0% 865 35% 48 29.1% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_HNF_C CST11 140880 genome.wustl.edu 37 20 23432533 23432533 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_130794.1 -1 reviewed p.L85M 0.000 120 0% 136 35.3% 0 - possibly_damaging(0.95) deleterious(0.03) deleterious(0.758) HMMPfam_Cystatin,HMMSmart_SM00043,superfamily_Cystatin/monellin CST9L 128821 genome.wustl.edu 37 20 23545667 23545667 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_080610.2 -1 reviewed p.T121I 0.181 142 0% 322 31.7% 0 - possibly_damaging(0.767) tolerated(0.5) neutral(0.294) HMMPfam_Cystatin,superfamily_Cystatin/monellin CST9L 128821 genome.wustl.edu 37 20 23548945 23548945 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_080610.2 -1 reviewed p.P48H 0.013 169 0% 148 31.8% 0 - probably_damaging(0.994) deleterious(0.02) deleterious(0.835) superfamily_Cystatin/monellin CST2 1470 genome.wustl.edu 37 20 23804727 23804727 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001322.2 -1 reviewed p.S119Y 0.045 236 0% 286 27.3% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cystatin,HMMSmart_CY,superfamily_SSF54403 SYNDIG1 79953 genome.wustl.edu 37 20 24523908 24523908 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024893.1 +1 provisional p.P59S 0.000 24 0% 30 40% 1 0% benign(0) tolerated(0.57) neutral(0.006) NULL C20orf3 57136 genome.wustl.edu 37 20 24950233 24950233 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000451442 -1 known p.R244Q 0.360 112 0% 169 30.2% 95 52.6% - - - HMMPfam_Str_synth,superfamily_Calcium-dependent phosphotriesterase ENTPD6 955 genome.wustl.edu 37 20 25190505 25190505 + Missense_Mutation SNP G G A rs144718324 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001247.2 +1 reviewed p.E133K 1.000 232 0% 544 26.8% 19 57.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GDA1_CD39 ENSG00000202414 0 genome.wustl.edu 37 20 25195393 25195393 + RNA SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000365544 +1 novel NULL 0.368 40 0% 46 32.6% 0 - - - - - PYGB 5834 genome.wustl.edu 37 20 25269107 25269107 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002862.3 +1 reviewed p.M605I 1.000 201 0% 311 32.8% 56 35.7% benign(0) tolerated(1) - HMMPfam_Phosphorylase,superfamily_SSF53756 ABHD12 26090 genome.wustl.edu 37 20 25282912 25282912 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015600.3 -1 validated p.D367G 0.966 146 0% 203 28.1% 106 34.9% benign(0.271) tolerated(0.18) neutral(0.085) NULL NINL 22981 genome.wustl.edu 37 20 25460828 25460828 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025176.4 -1 validated p.Y629C 0.203 240 0% 400 27% 7 42.8% probably_damaging(0.978) tolerated(0.16) deleterious(0.480) NULL NINL 22981 genome.wustl.edu 37 20 25470566 25470566 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025176.4 -1 validated p.S514L 0.259 246 0% 261 31% 6 33.3% possibly_damaging(0.888) tolerated(0.12) deleterious(0.608) NULL FAM182A 284800 genome.wustl.edu 37 20 26063580 26063580 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000246000 +1 known p.T143 0.046 133 0% 225 30.2% 0 - - - - NULL DEFB119 245932 genome.wustl.edu 37 20 29976828 29976828 + Nonstop_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153323.3 -1 validated p.*89Y 0.002 162 0% 241 39% 0 - - - - NULL HM13 81502 genome.wustl.edu 37 20 30136878 30136878 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178581.1 +1 reviewed p.G167 1.000 141 0% 279 28.7% 363 38.8% - - - HMMSmart_PSN,HMMPfam_Peptidase_A22B TPX2 22974 genome.wustl.edu 37 20 30371571 30371571 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012112.4 +1 validated p.K420N 1.000 102 0% 168 31% 15 73.3% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL TPX2 22974 genome.wustl.edu 37 20 30380610 30380610 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012112.4 +1 validated p.R496* 0.995 159 0% 293 30.4% 25 4% - - - NULL TPX2 22974 genome.wustl.edu 37 20 30388870 30388870 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012112.4 +1 validated p.R744Q 1.000 91 0% 120 32.5% 47 12.7% probably_damaging(0.974) deleterious(0) deleterious(0.861) NULL TTLL9 164395 genome.wustl.edu 37 20 30458944 30458944 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001008409.2 +1 provisional p.R5 0.001 150 0% 255 39.2% 0 - - - - NULL XKR7 343702 genome.wustl.edu 37 20 30585075 30585075 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001011718.1 +1 provisional p.E519K 1.000 15 0% 19 52.6% 0 - benign(0.145) tolerated(0.05) neutral(0.358) NULL HCK 3055 genome.wustl.edu 37 20 30662509 30662509 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002110.3 +1 reviewed p.S138Y 0.998 59 0% 113 32.7% 1 0% probably_damaging(0.994) deleterious(0) deleterious(0.897) superfamily_SH3-domain,superfamily_SH2 domain HCK 3055 genome.wustl.edu 37 20 30676429 30676429 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002110.3 +1 reviewed p.L358 0.998 59 0% 118 29.7% 8 0% - - - HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) TM9SF4 9777 genome.wustl.edu 37 20 30745677 30745677 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014742.3 +1 validated p.F470 1.000 145 0% 124 37.1% 49 44.8% - - - HMMPfam_EMP70 PLAGL2 5326 genome.wustl.edu 37 20 30785144 30785144 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002657.3 -1 reviewed p.Y201S 1.000 72 0% 58 37.9% 6 16.6% benign(0.047) tolerated(0.15) neutral(0.244) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ASXL1 171023 genome.wustl.edu 37 20 31017141 31017141 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015338.5 +1 reviewed p.A158T 1.000 94 1.1% 179 33.5% 8 50% benign(0) deleterious(0) neutral(0.445) NULL ASXL1 171023 genome.wustl.edu 37 20 31023107 31023107 + Silent SNP C C T rs147278940 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015338.5 +1 reviewed p.D864 0.000 144 0% 288 24.3% 11 9% - - - NULL ASXL1 171023 genome.wustl.edu 37 20 31024141 31024141 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015338.5 +1 reviewed p.S1209N 0.001 77 0% 152 35.5% 46 34.7% probably_damaging(0.99) tolerated(0.16) deleterious(0.501) NULL DNMT3B 1789 genome.wustl.edu 37 20 31372581 31372581 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006892.3 +1 reviewed p.G74 0.781 95 0% 207 35.7% 1 0% - - - NULL DNMT3B 1789 genome.wustl.edu 37 20 31374318 31374318 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006892.3 +1 reviewed p.R106Q 1.000 37 0% 50 32% 3 0% possibly_damaging(0.949) deleterious(0.04) deleterious(0.742) NULL EFCAB8 388795 genome.wustl.edu 37 20 31455551 31455551 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000440534 +1 known p.G69E 0.964 139 0% 259 33.6% 0 - probably_damaging(0.998) tolerated(1) deleterious(0.474) superfamily_EF-hand EFCAB8 388795 genome.wustl.edu 37 20 31505149 31505149 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000440534 +1 known p.Q633H 0.909 86 0% 148 34.5% 0 - probably_damaging(0.983) tolerated(0.11) deleterious(0.701) HMMSmart_SM00320,superfamily_WD40 repeat-like BPIFB6 128859 genome.wustl.edu 37 20 31627275 31627275 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_174897.2 +1 validated p.F341 0.003 123 0% 165 36.4% 0 - - - - HMMPfam_LBP_BPI_CETP_C,HMMSmart_BPI2,superfamily_Bactericidal_perm-incr_a/b_dom BPIFB4 149954 genome.wustl.edu 37 20 31688243 31688243 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182519.2 +1 validated p.F527L 0.983 228 0% 409 39.4% 0 - benign(0) tolerated(1) - HMMPfam_LBP_BPI_CETP_C,HMMSmart_SM00329,superfamily_Bactericidal permeability-increasing protein BPI BPIFB1 92747 genome.wustl.edu 37 20 31890751 31890751 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033197.2 +1 reviewed p.I337 0.405 62 0% 101 23.8% 1 0% - - - superfamily_Bactericidal permeability-increasing protein BPI CDK5RAP1 51654 genome.wustl.edu 37 20 31967310 31967310 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016408.2 -1 reviewed p.R355M 1.000 96 0% 239 31.4% 7 28.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00729,HMMPfam_Radical_SAM,superfamily_Radical SAM enzymes CDK5RAP1 51654 genome.wustl.edu 37 20 31967358 31967358 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016408.2 -1 reviewed p.R339H 1.000 127 0% 283 39.2% 8 62.5% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMSmart_SM00729,HMMPfam_Radical_SAM,superfamily_Radical SAM enzymes RALY 22913 genome.wustl.edu 37 20 32664566 32664566 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016732.1 +1 reviewed p.I201 0.018 58 0% 71 25.4% 203 45.3% - - - NULL EIF2S2 8894 genome.wustl.edu 37 20 32684576 32684576 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003908.3 -1 reviewed p.K190N 1.000 218 0% 360 30.6% 89 35.9% probably_damaging(1) tolerated(0.15) deleterious(0.741) HMMPfam_eIF-5_eIF-2B,superfamily_Translation initiation factor 2 beta aIF2beta N-terminal domain NCOA6 23054 genome.wustl.edu 37 20 33329591 33329591 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014071.2 -1 reviewed p.S1490L 1.000 94 0% 179 35.2% 18 61.1% probably_damaging(0.978) deleterious(0) deleterious(0.865) NULL NCOA6 23054 genome.wustl.edu 37 20 33329708 33329708 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014071.2 -1 reviewed p.M1451T 1.000 131 0% 222 35.6% 24 33.3% benign(0.012) deleterious(0) neutral(0.445) NULL MYH7B 57644 genome.wustl.edu 37 20 33568434 33568434 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020884.3 +1 reviewed p.V174 1.000 119 0% 203 40.4% 0 - - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYH7B 57644 genome.wustl.edu 37 20 33575675 33575675 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020884.3 +1 reviewed p.F500L 1.000 94 0% 101 32.7% 3 33.3% benign(0.416) deleterious(0.03) deleterious(0.499) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases TRPC4AP 26133 genome.wustl.edu 37 20 33665958 33665958 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015638.2 -1 validated p.T63M 0.419 151 0% 322 34.2% 18 33.3% benign(0.011) tolerated(0.09) neutral(0.297) NULL MMP24 10893 genome.wustl.edu 37 20 33842452 33842452 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006690.3 +1 reviewed p.E238* 1.000 139 0% 298 30.9% 0 - - - - "HMMPfam_Peptidase_M10,HMMSmart_SM00235,superfamily_Metalloproteases (""zincins"") catalytic domain" MMP24 10893 genome.wustl.edu 37 20 33855133 33855133 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006690.3 +1 reviewed p.R369W 1.000 69 0% 94 35.1% 1 100% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL UQCC 55245 genome.wustl.edu 37 20 33894507 33894507 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018244.4 -1 reviewed p.R243* 0.916 133 0% 174 36.8% 13 23% - - - HMMPfam_Ubiq_cyt_C_chap UQCC 55245 genome.wustl.edu 37 20 33981906 33981906 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018244.4 -1 reviewed p.R40C 1.000 84 0% 193 28% 15 40% possibly_damaging(0.598) tolerated(0.06) deleterious(0.529) NULL GDF5 8200 genome.wustl.edu 37 20 34022151 34022151 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000557.2 -1 reviewed p.F354L 0.996 17 0% 22 36.4% 0 - possibly_damaging(0.605) - - HMMPfam_TGFb_propeptide SPAG4 6676 genome.wustl.edu 37 20 34207518 34207518 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003116.1 +1 reviewed p.G309 0.999 31 0% 30 26.7% 5 0% - - - HMMPfam_Sad1_UNC CPNE1 8904 genome.wustl.edu 37 20 34220553 34220553 + Silent SNP C C T rs146302278 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003915.4 -1 reviewed p.E70 0.964 192 0% 405 37.5% 83 38.5% - - - HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB RBM12 10137 genome.wustl.edu 37 20 34242488 34242488 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006047.4 -1 reviewed p.A253T 1.000 102 0% 215 34.9% 13 53.8% unknown(0) tolerated(0.09) - NULL NFS1 9054 genome.wustl.edu 37 20 34269813 34269813 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021100.3 -1 reviewed p.I218L 1.000 58 0% 180 32.8% 13 38.4% benign(0.042) deleterious(0.01) neutral(0.408) HMMPfam_Aminotran_5,superfamily_PLP-dependent transferases RBM39 9584 genome.wustl.edu 37 20 34312576 34312576 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000448303 -1 known p.R74C 1.000 98 0% 255 32.2% 77 44.1% - - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD EPB41L1 2036 genome.wustl.edu 37 20 34797635 34797635 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012156.2 +1 reviewed p.A632T 1.000 74 0% 70 41.4% 7 14.2% probably_damaging(0.98) tolerated(0.12) deleterious(0.684) NULL DLGAP4 22839 genome.wustl.edu 37 20 35154346 35154346 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014902.4 +1 reviewed p.F896 0.998 39 0% 74 29.7% 127 41.7% - - - HMMPfam_GKAP MYL9 10398 genome.wustl.edu 37 20 35177578 35177578 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006097.3 +1 reviewed p.D149Y 1.000 69 0% 136 27.9% 328 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_EF-hand RBL1 5933 genome.wustl.edu 37 20 35696525 35696525 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002895.2 -1 reviewed p.R119C 1.000 94 0% 90 32.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL TTI1 9675 genome.wustl.edu 37 20 36625220 36625220 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014657.1 -1 predicted p.T977A 1.000 66 0% 61 36.1% 27 59.2% probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_ARM-type_fold KIAA1755 85449 genome.wustl.edu 37 20 36841691 36841691 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001029864.1 -1 predicted p.R1119I 0.001 70 0% 53 30.2% 5 0% probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL KIAA1755 85449 genome.wustl.edu 37 20 36869617 36869617 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001029864.1 -1 predicted p.E306* 0.000 122 0% 137 27% 0 - - - - NULL RALGAPB 57148 genome.wustl.edu 37 20 37128103 37128103 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020336.2 +1 validated p.E189D 1.000 195 0% 286 28% 8 37.5% benign(0) tolerated(1) - NULL ARHGAP40 343578 genome.wustl.edu 37 20 37272484 37272484 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000243967 +1 known p.E388* 1.000 103 0% 147 30.6% 0 - possibly_damaging(0.949) deleterious(0.04) deleterious(0.742) HMMSmart_SM00324,superfamily_GTPase activation domain GAP PPP1R16B 26051 genome.wustl.edu 37 20 37536706 37536706 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015568.2 +1 reviewed p.T355I 1.000 96 0% 118 27.1% 2 0% probably_damaging(0.974) deleterious(0.03) deleterious(0.780) NULL DHX35 60625 genome.wustl.edu 37 20 37639003 37639003 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021931.2 +1 reviewed p.K435E 1.000 216 0.5% 282 32.6% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases DHX35 60625 genome.wustl.edu 37 20 37650558 37650558 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021931.2 +1 reviewed p.P525S 0.993 121 0% 187 32.6% 5 40% benign(0) tolerated(0.86) neutral(0.001) HMMPfam_HA2,superfamily_P-loop containing nucleoside triphosphate hydrolases PLCG1 5335 genome.wustl.edu 37 20 39795391 39795391 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002660.2 +1 reviewed p.F731 0.990 119 0% 185 37.8% 80 46.2% - - - HMMPfam_SH2,HMMSmart_SH2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_SSF50729,superfamily_SSF55550 EMILIN3 90187 genome.wustl.edu 37 20 39991311 39991311 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_052846.1 -1 validated p.L300 0.998 56 0% 58 25.9% 0 - - - - NULL CHD6 84181 genome.wustl.edu 37 20 40049844 40049844 + Missense_Mutation SNP C C T rs149866734 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032221.3 -1 reviewed p.A1811T 0.000 55 0% 90 45.6% 8 25% benign(0.004) deleterious(0.01) neutral(0.406) NULL CHD6 84181 genome.wustl.edu 37 20 40050384 40050384 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032221.3 -1 reviewed p.C1631R 1.000 129 0% 157 32.5% 5 20% probably_damaging(0.988) deleterious(0.02) deleterious(0.821) NULL CHD6 84181 genome.wustl.edu 37 20 40052268 40052268 + Missense_Mutation SNP C C A rs147533747 TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032221.3 -1 reviewed p.K1473N 1.000 205 0% 214 35% 4 50% probably_damaging(0.996) tolerated(0.09) deleterious(0.758) NULL CHD6 84181 genome.wustl.edu 37 20 40126809 40126809 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032221.3 -1 reviewed p.F325V 1.000 66 0% 78 35.9% 7 14.2% probably_damaging(0.999) tolerated(0.05) deleterious(0.836) HMMPfam_Chromo,HMMSmart_SM00298,superfamily_Chromo domain-like PTPRT 11122 genome.wustl.edu 37 20 40713337 40713337 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_133170.3 -1 reviewed p.T1393N 1.000 134 0% 155 30.3% 0 - possibly_damaging(0.804) deleterious(0.02) deleterious(0.685) HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II PTPRT 11122 genome.wustl.edu 37 20 40864878 40864878 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_133170.3 -1 reviewed p.S797F 1.000 134 0% 155 25.2% 0 - possibly_damaging(0.819) deleterious(0.03) deleterious(0.674) NULL PTPRT 11122 genome.wustl.edu 37 20 40980830 40980830 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000454126 -1 known p.S168Y 1.000 102 0% 157 31.8% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III PTPRT 11122 genome.wustl.edu 37 20 41514518 41514518 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_133170.3 -1 reviewed p.G48V 1.000 145 0% 151 30.5% 0 - benign(0.002) tolerated(0.07) neutral(0.319) HMMPfam_MAM,HMMSmart_SM00137 L3MBTL1 26013 genome.wustl.edu 37 20 42169508 42169508 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032107.3 +1 reviewed p.T726M 0.000 125 0% 224 37.9% 0 - possibly_damaging(0.936) - - NULL GTSF1L 149699 genome.wustl.edu 37 20 42355316 42355316 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_176791.3 -1 validated p.E7* 0.999 65 0% 136 23.5% 0 - - - - HMMPfam_UPF0224 GDAP1L1 78997 genome.wustl.edu 37 20 42887240 42887240 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024034.3 +1 reviewed p.E180D 1.000 13 0% 11 54.5% 0 - possibly_damaging(0.902) tolerated(0.05) deleterious(0.702) superfamily_Glutathione S-transferase (GST) C-terminal domain STK4 6789 genome.wustl.edu 37 20 43625885 43625885 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006282.2 +1 reviewed p.F257V 1.000 136 0% 191 36.1% 3 33.3% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase STK4 6789 genome.wustl.edu 37 20 43629075 43629075 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006282.2 +1 reviewed p.D292Y 0.990 165 0% 250 36% 9 33.3% benign(0.223) deleterious(0.03) neutral(0.387) superfamily_Protein kinase-like (PK-like) SEMG1 6406 genome.wustl.edu 37 20 43836716 43836716 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003007.3 +1 reviewed p.L260F 0.000 118 0% 143 37.1% 0 - probably_damaging(0.999) tolerated(0.14) deleterious(0.740) HMMPfam_Semenogelin SEMG2 6407 genome.wustl.edu 37 20 43850698 43850698 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003008.2 +1 reviewed p.P142H 0.042 159 0% 277 34.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Semenogelin SEMG2 6407 genome.wustl.edu 37 20 43851505 43851505 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003008.2 +1 reviewed p.S411L 0.001 108 0% 122 22.1% 0 - possibly_damaging(0.915) deleterious(0) deleterious(0.811) HMMPfam_Semenogelin SLPI 6590 genome.wustl.edu 37 20 43882222 43882222 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003064.2 -1 reviewed p.N80D 0.000 169 0% 247 32% 938 40% benign(0.121) tolerated(0.61) neutral(0.013) NULL RBPJL 11317 genome.wustl.edu 37 20 43940246 43940246 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014276.2 +1 reviewed p.P92L 1.000 77 0% 66 43.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P53_like_DNA_bnd,HMMPfam_LAG1-DNAbind RBPJL 11317 genome.wustl.edu 37 20 43940918 43940918 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014276.2 +1 reviewed p.R168W 1.000 54 0% 82 39% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_P53_like_DNA_bnd,HMMPfam_LAG1-DNAbind SDC4 6385 genome.wustl.edu 37 20 43955913 43955913 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002999.2 -1 reviewed p.F196L 1.000 122 0% 231 26.4% 37 0% possibly_damaging(0.882) deleterious(0.01) deleterious(0.750) NULL SDC4 6385 genome.wustl.edu 37 20 43955960 43955960 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002999.2 -1 reviewed p.D181Y 1.000 139 0% 253 34.8% 64 56.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00294 DBNDD2 55861 genome.wustl.edu 37 20 44037061 44037061 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000372710 +1 known p.R87L 0.000 27 0% 33 36.4% 0 - possibly_damaging(0.77) deleterious(0.02) deleterious(0.669) NULL PIGT 51604 genome.wustl.edu 37 20 44047991 44047991 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015937.4 +1 reviewed p.E184K 1.000 74 1.4% 115 35.7% 89 39.3% probably_damaging(0.999) tolerated(0.05) deleterious(0.836) HMMPfam_Gpi16 SPINT3 10816 genome.wustl.edu 37 20 44141328 44141328 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006652.1 -1 validated p.R78M 0.000 150 0% 159 34% 0 - possibly_damaging(0.565) deleterious(0.01) deleterious(0.599) HMMPfam_Kunitz_BPTI,HMMSmart_KU,PatternScan_BPTI_KUNITZ_1,superfamily_Prot_inh_Kunz-m WFDC11 259239 genome.wustl.edu 37 20 44279148 44279148 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_147197.2 -1 reviewed p.R31I 0.000 349 0% 607 36.4% 0 - benign(0) tolerated(0.13) neutral(0.253) NULL WFDC10B 280664 genome.wustl.edu 37 20 44313595 44313595 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_172131.2 -1 reviewed p.I48 0.000 116 0% 173 28.3% 0 - - - - NULL UBE2C 11065 genome.wustl.edu 37 20 44444362 44444362 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007019.2 +1 reviewed p.L133 0.941 135 0% 267 30.7% 221 45.2% - - - HMMPfam_UQ_con,HMMSmart_SM00212,superfamily_UBC-like NEURL2 140825 genome.wustl.edu 37 20 44517457 44517457 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_080749.2 -1 validated p.R266 1.000 120 0% 208 34.6% 6 66.6% - - - HMMPfam_SOCS_box MMP9 4318 genome.wustl.edu 37 20 44639624 44639624 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004994.2 +1 reviewed p.G195D 0.981 46 0% 77 28.6% 48 0% probably_damaging(1) tolerated(0.06) deleterious(0.823) "HMMPfam_Peptidase_M10,HMMSmart_SM00235,superfamily_Metalloproteases (""zincins"") catalytic domain" MMP9 4318 genome.wustl.edu 37 20 44644890 44644890 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004994.2 +1 reviewed p.E669D 0.092 107 0% 180 32.2% 131 0% benign(0.001) tolerated(0.42) neutral(0.014) superfamily_Hemopexin-like domain,HMMPfam_Hemopexin,HMMSmart_SM00120 SLC12A5 57468 genome.wustl.edu 37 20 44675063 44675063 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001134771.1 +1 reviewed p.R615Q 1.000 136 0.7% 207 37.2% 0 - benign(0.276) tolerated(0.05) neutral(0.375) HMMPfam_AA_permease SLC12A5 57468 genome.wustl.edu 37 20 44685096 44685096 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001134771.1 +1 reviewed p.P1024 0.744 105 0% 181 30.9% 0 - - - - NULL SLC12A5 57468 genome.wustl.edu 37 20 44685099 44685099 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001134771.1 +1 reviewed p.E1025D 1.000 104 0% 181 34.8% 0 - benign(0) tolerated(0.59) neutral(0.004) NULL NCOA5 57727 genome.wustl.edu 37 20 44695779 44695779 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020967.2 -1 reviewed p.R182C 1.000 147 0% 172 36.6% 16 43.7% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ZNF334 55713 genome.wustl.edu 37 20 45130704 45130704 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018102.3 -1 validated p.R425I 1.000 151 0% 148 28.4% 0 - possibly_damaging(0.692) deleterious(0) deleterious(0.692) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF334 55713 genome.wustl.edu 37 20 45130856 45130856 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018102.3 -1 validated p.E374D 1.000 228 0% 221 34.4% 0 - possibly_damaging(0.697) deleterious(0.05) deleterious(0.595) superfamily_SSF57667 ZNF334 55713 genome.wustl.edu 37 20 45131281 45131281 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018102.3 -1 validated p.E233K 0.694 236 0% 263 31.2% 0 - possibly_damaging(0.892) tolerated(0.2) neutral(0.400) superfamily_SSF57667 ZNF334 55713 genome.wustl.edu 37 20 45131639 45131639 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018102.3 -1 validated p.E113D 0.000 217 0% 262 30.2% 0 - possibly_damaging(0.465) tolerated(0.53) neutral(0.161) NULL EYA2 2139 genome.wustl.edu 37 20 45801367 45801367 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005244.4 +1 reviewed p.F350L 1.000 141 0% 255 36.5% 16 37.5% probably_damaging(0.994) deleterious(0.04) deleterious(0.801) HMMPfam_Hydrolase NCOA3 8202 genome.wustl.edu 37 20 46276076 46276076 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_181659.2 +1 reviewed p.R1171I 1.000 70 0% 147 40.8% 6 66.6% probably_damaging(1) tolerated(0.17) deleterious(0.559) NULL ARFGEF2 10564 genome.wustl.edu 37 20 47588912 47588912 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006420.2 +1 reviewed p.S492Y 1.000 138 0% 215 29.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM-type_fold ARFGEF2 10564 genome.wustl.edu 37 20 47605070 47605070 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006420.2 +1 reviewed p.R802W 1.000 41 0% 63 34.9% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sec7,HMMSmart_Sec7,superfamily_Sec7,superfamily_ARM-type_fold ARFGEF2 10564 genome.wustl.edu 37 20 47606200 47606200 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006420.2 +1 reviewed p.I931 0.864 93 0% 175 40.6% 5 0% - - - superfamily_ARM-type_fold CSE1L 1434 genome.wustl.edu 37 20 47682765 47682765 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001316.2 +1 reviewed p.R89* 1.000 129 0% 216 30.6% 4 50% - - - HMMPfam_IBN_N,superfamily_ARM repeat CSE1L 1434 genome.wustl.edu 37 20 47700578 47700578 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001316.2 +1 reviewed p.L500I 1.000 223 0% 353 30.6% 16 18.7% benign(0.094) tolerated(0.38) neutral(0.025) HMMPfam_Cse1,superfamily_ARM repeat ZNFX1 57169 genome.wustl.edu 37 20 47877011 47877011 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021035.2 -1 validated p.P802L 0.991 53 0% 124 39.5% 5 20% benign(0.009) deleterious(0.03) neutral(0.365) superfamily_P-loop containing nucleoside triphosphate hydrolases ZNFX1 57169 genome.wustl.edu 37 20 47887421 47887421 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021035.2 -1 validated p.R310* 1.000 144 0% 325 37.2% 6 66.6% - - - NULL KCNB1 3745 genome.wustl.edu 37 20 47989734 47989734 + Missense_Mutation SNP G G A rs140932985 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004975.2 -1 reviewed p.T788M 0.000 277 0% 381 35.4% 0 - benign(0.15) tolerated(0.07) neutral(0.332) NULL KCNB1 3745 genome.wustl.edu 37 20 47991437 47991437 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004975.2 -1 reviewed p.F220 0.143 140 0% 278 32.7% 0 - - - - superfamily_SSF81324 KCNB1 3745 genome.wustl.edu 37 20 48098751 48098751 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004975.2 -1 reviewed p.P89 0.235 38 0% 45 33.3% 0 - - - - HMMSmart_BTB,HMMPfam_K_tetra,superfamily_BTB/POZ_fold PTGIS 5740 genome.wustl.edu 37 20 48130909 48130909 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000961.3 -1 reviewed p.F293L 1.000 51 0% 48 35.4% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_p450,superfamily_Cytochrome_P450 PTGIS 5740 genome.wustl.edu 37 20 48164505 48164505 + Missense_Mutation SNP C C T rs182204601 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000961.3 -1 reviewed p.D84N 1.000 70 0% 97 27.8% 1 0% possibly_damaging(0.552) tolerated(0.6) neutral(0.193) superfamily_Cytochrome_P450 PTGIS 5740 genome.wustl.edu 37 20 48166656 48166656 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000961.3 -1 reviewed p.D49Y 1.000 48 0% 88 37.5% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_p450,superfamily_Cytochrome_P450 SLC9A8 23315 genome.wustl.edu 37 20 48456127 48456127 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015266.1 +1 validated p.A113 1.000 203 0% 312 31.7% 0 - - - - HMMPfam_Na_H_Exchanger SLC9A8 23315 genome.wustl.edu 37 20 48504378 48504378 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015266.1 +1 validated p.G551W 1.000 47 0% 57 28.1% 9 33.3% probably_damaging(0.986) deleterious(0.02) deleterious(0.818) NULL MIR645 693230 genome.wustl.edu 37 20 49202384 49202384 + RNA SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000385283 +1 known NULL 0.048 66 0% 93 44.1% 0 - - - - - PARD6B 84612 genome.wustl.edu 37 20 49366996 49366996 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032521.2 +1 reviewed p.E364* 1.000 46 0% 71 25.4% 6 33.3% - - - NULL ADNP 23394 genome.wustl.edu 37 20 49509856 49509856 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015339.2 -1 reviewed p.F465 1.000 165 0% 288 35.4% 19 47.3% - - - HMMSmart_ZnF_C2H2 ADNP 23394 genome.wustl.edu 37 20 49510335 49510335 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015339.2 -1 reviewed p.R306* 1.000 201 0.5% 371 32.1% 19 47.3% - - - NULL KCNG1 3755 genome.wustl.edu 37 20 49626686 49626686 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002237.3 -1 reviewed p.R64W 0.592 41 0% 28 42.9% 0 - benign(0.242) deleterious(0.03) neutral(0.389) HMMSmart_SM00225,superfamily_POZ domain SALL4 57167 genome.wustl.edu 37 20 50406957 50406957 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020436.3 -1 reviewed p.E689K 0.865 38 0% 66 39.4% 0 - probably_damaging(0.987) tolerated(0.08) deleterious(0.736) NULL SALL4 57167 genome.wustl.edu 37 20 50408820 50408820 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020436.3 -1 reviewed p.R68W 0.010 44 0% 70 41.4% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL LOC100288393 100288393 genome.wustl.edu 37 20 50769597 50769597 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002343724.1 +1 model p.E17K 0.998 114 0% 234 29.9% 11 63.6% - - - NULL ZNF217 7764 genome.wustl.edu 37 20 52192613 52192613 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006526.2 -1 validated p.R897I 0.521 69 0% 108 40.7% 6 16.6% probably_damaging(0.966) deleterious(0.02) deleterious(0.791) NULL ZNF217 7764 genome.wustl.edu 37 20 52193072 52193072 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006526.2 -1 validated p.R744Q 0.120 97 0% 105 17.1% 12 66.6% probably_damaging(0.997) tolerated(0.13) deleterious(0.719) NULL ZNF217 7764 genome.wustl.edu 37 20 52193491 52193491 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006526.2 -1 validated p.K604N 0.050 225 0% 479 34% 10 40% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL CYP24A1 1591 genome.wustl.edu 37 20 52773964 52773964 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000782.4 -1 reviewed p.R466Q 0.999 128 0% 192 35.4% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_p450,superfamily_Cytochrome_P450 PFDN4 5203 genome.wustl.edu 37 20 52830974 52830974 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002623.3 +1 reviewed p.K37E 1.000 67 0% 71 33.8% 39 61.5% possibly_damaging(0.54) tolerated(0.44) neutral(0.196) HMMPfam_Prefoldin_2,superfamily_Prefoldin CBLN4 140689 genome.wustl.edu 37 20 54579090 54579090 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_080617.4 -1 reviewed p.S46 1.000 55 0% 65 36.9% 0 - - - - NULL FAM209A 200232 genome.wustl.edu 37 20 55099997 55099997 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001012971.3 +1 validated p.R45W 0.016 262 0% 542 26.8% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL FAM209A 200232 genome.wustl.edu 37 20 55100024 55100024 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001012971.3 +1 validated p.G54C 0.758 273 0% 589 25.8% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL FAM209A 200232 genome.wustl.edu 37 20 55101089 55101089 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001012971.3 +1 validated p.T160M 0.070 141 0% 270 34.8% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL FAM209B 388799 genome.wustl.edu 37 20 55111375 55111375 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001013646.2 +1 predicted p.L133I 0.005 112 0% 233 15.9% 1 0% possibly_damaging(0.892) deleterious(0) deleterious(0.796) NULL TFAP2C 7022 genome.wustl.edu 37 20 55208590 55208590 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003222.3 +1 reviewed p.C256 1.000 114 0% 209 33% 6 33.3% - - - HMMPfam_TF_AP-2 TFAP2C 7022 genome.wustl.edu 37 20 55212806 55212806 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003222.3 +1 reviewed p.E364* 1.000 47 0% 83 31.3% 4 75% - - - HMMPfam_TF_AP-2 SPO11 23626 genome.wustl.edu 37 20 55906899 55906899 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012444.2 +1 reviewed p.L48I 1.000 163 0% 176 34.1% 0 - probably_damaging(1) tolerated(0.14) deleterious(0.750) NULL PCK1 5105 genome.wustl.edu 37 20 56138663 56138663 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002591.3 +1 reviewed p.A281T 1.000 117 0% 137 30.7% 0 - possibly_damaging(0.912) tolerated(0.08) deleterious(0.663) HMMPfam_PEPCK,superfamily_SSF53795 PCK1 5105 genome.wustl.edu 37 20 56139331 56139331 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002591.3 +1 reviewed p.I356 1.000 153 0% 214 35% 0 - - - - HMMPfam_PEPCK,superfamily_SSF53795 ZBP1 81030 genome.wustl.edu 37 20 56191218 56191218 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000432548 -1 known p.S114L 0.029 59 0% 94 35.1% 0 - - - - NULL ANKRD60 140731 genome.wustl.edu 37 20 56798108 56798108 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_001134442.3 -1 model p.K187N 1.000 118 0.8% 156 28.2% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Ank,superfamily_ANK VAPB 9217 genome.wustl.edu 37 20 56993321 56993321 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004738.3 +1 reviewed p.R38Q 1.000 102 0% 212 30.2% 15 46.6% benign(0.002) tolerated(0.31) neutral(0.027) HMMPfam_Motile_Sperm,superfamily_PapD-like NPEPL1 79716 genome.wustl.edu 37 20 57273827 57273827 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024663.3 +1 validated p.E199K 1.000 29 0% 61 34.4% 10 20% benign(0.004) tolerated(0.15) neutral(0.241) HMMPfam_Peptidase_M17,superfamily_Zn-dependent exopeptidases NPEPL1 79716 genome.wustl.edu 37 20 57288706 57288706 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000371137 +1 known p.F411C 0.000 19 0% 21 42.9% 3 33.3% - - - NULL NPEPL1 79716 genome.wustl.edu 37 20 57289675 57289675 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024663.3 +1 validated p.F454 0.930 80 0% 97 42.3% 27 11.1% - - - HMMPfam_Peptidase_M17,superfamily_Zn-dependent exopeptidases GNAS 2778 genome.wustl.edu 37 20 57484414 57484414 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_080425.2 +1 reviewed p.R842C 0.994 132 0% 218 38.1% 2300 41.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_G-alpha,superfamily_Transducin (alpha subunit) insertion domain,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases GNAS 2778 genome.wustl.edu 37 20 57485438 57485438 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_080425.2 +1 reviewed p.F983L 1.000 33 0% 35 31.4% 3233 38.8% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_G-alpha,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases TH1L 51497 genome.wustl.edu 37 20 57561836 57561836 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198976.1 +1 reviewed p.E77D 1.000 246 0% 350 30.9% 29 44.8% probably_damaging(0.996) tolerated(0.07) deleterious(0.780) HMMPfam_TH1 SYCP2 10388 genome.wustl.edu 37 20 58439413 58439413 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014258.2 -1 reviewed p.E1516* 1.000 200 0% 79 21.5% 0 - - - - NULL SYCP2 10388 genome.wustl.edu 37 20 58452478 58452478 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014258.2 -1 reviewed p.E1038* 1.000 165 0% 111 31.5% 0 - - - - NULL SYCP2 10388 genome.wustl.edu 37 20 58461789 58461789 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014258.2 -1 reviewed p.R822I 1.000 323 0.3% 171 24.6% 0 - possibly_damaging(0.733) deleterious(0.02) deleterious(0.651) NULL SYCP2 10388 genome.wustl.edu 37 20 58467092 58467092 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014258.2 -1 reviewed p.E773* 0.004 262 0% 156 28.8% 0 - - - - NULL SYCP2 10388 genome.wustl.edu 37 20 58495519 58495519 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014258.2 -1 reviewed p.H64 0.160 254 0% 195 36.4% 0 - - - - NULL CDH26 60437 genome.wustl.edu 37 20 58567505 58567505 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_177980.2 +1 reviewed p.E452D 0.006 174 0% 217 36.4% 2 0% possibly_damaging(0.906) tolerated(0.06) deleterious(0.682) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin TAF4 6874 genome.wustl.edu 37 20 60575222 60575222 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003185.3 -1 reviewed p.E915D 0.866 197 0% 331 27.5% 5 20% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_TAF4,superfamily_Histone-fold GTPBP5 26164 genome.wustl.edu 37 20 60772993 60772993 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015666.3 +1 validated p.F146 0.319 88 0% 144 26.4% 12 8.3% - - - HMMPfam_GTP1_OBG,superfamily_GTP1_OBG_sub GTPBP5 26164 genome.wustl.edu 37 20 60775836 60775836 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015666.3 +1 validated p.F308 0.880 45 0% 70 32.9% 19 15.7% - - - HMMPfam_MMR_HSR1,superfamily_SSF52540 OSBPL2 9885 genome.wustl.edu 37 20 60854239 60854239 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144498.1 +1 reviewed p.S173L 0.999 98 0% 184 29.9% 19 52.6% benign(0.036) deleterious(0.01) neutral(0.408) HMMPfam_Oxysterol_BP RPS21 6227 genome.wustl.edu 37 20 60962906 60962906 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001024.3 +1 reviewed p.K41T 1.000 174 0% 356 35.4% 5811 36.1% benign(0.031) tolerated(0.13) neutral(0.254) HMMPfam_Ribosomal_S21e RPS21 6227 genome.wustl.edu 37 20 60963564 60963564 + Nonstop_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000337102 +1 known p.*97Q 0.000 177 0% 347 32.6% 643 44.9% - - - NULL C20orf151 140893 genome.wustl.edu 37 20 60991230 60991230 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_080833.2 -1 validated p.R126W 0.001 80 0% 74 33.8% 1 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL C20orf20 55257 genome.wustl.edu 37 20 61429987 61429987 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018270.4 +1 validated p.L107I 1.000 165 0% 325 34.8% 14 21.4% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_CT20 OGFR 11054 genome.wustl.edu 37 20 61440944 61440944 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007346.2 +1 reviewed p.F109L 0.991 55 0% 61 41% 54 31.4% benign(0) tolerated(0.75) neutral(0.002) HMMPfam_OGFr_N TCFL5 10732 genome.wustl.edu 37 20 61485378 61485378 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006602.2 -1 validated p.S457Y 0.669 105 0% 246 33.7% 6 16.6% probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL TCFL5 10732 genome.wustl.edu 37 20 61488919 61488919 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006602.2 -1 validated p.R356* 0.600 149 0% 225 31.6% 4 25% - - - NULL DIDO1 11083 genome.wustl.edu 37 20 61511407 61511407 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033081.1 -1 reviewed p.F1967 0.985 33 0% 39 43.6% 10 50% - - - NULL DIDO1 11083 genome.wustl.edu 37 20 61527642 61527642 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033081.1 -1 reviewed p.N719K 0.997 169 0% 338 32.2% 6 33.3% probably_damaging(0.998) deleterious(0.04) deleterious(0.823) HMMPfam_TFIIS_M,superfamily_Elongation factor TFIIS domain 2,HMMSmart_SM00510 DIDO1 11083 genome.wustl.edu 37 20 61527926 61527926 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033081.1 -1 reviewed p.R671W 0.996 58 0% 68 26.5% 2 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TFIIS_M,superfamily_Elongation factor TFIIS domain 2 ARFGAP1 55738 genome.wustl.edu 37 20 61909472 61909472 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_175609.1 +1 reviewed p.V149 0.001 152 0% 161 30.4% 50 40% possibly_damaging(0.832) tolerated(0.2) neutral(0.366) NULL COL20A1 57642 genome.wustl.edu 37 20 61948043 61948043 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020882.2 +1 validated p.S888I 1.000 41 0% 53 37.7% 0 - probably_damaging(0.982) deleterious(0.03) deleterious(0.791) HMMSmart_SM00210 EEF1A2 1917 genome.wustl.edu 37 20 62127262 62127262 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001958.2 -1 reviewed p.D91N 1.000 207 0% 293 32.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_GTP_EFTU,superfamily_P-loop containing nucleoside triphosphate hydrolases SRMS 6725 genome.wustl.edu 37 20 62172577 62172577 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_080823.2 -1 provisional p.E418K 1.000 67 0% 78 35.9% 14 57.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like SRMS 6725 genome.wustl.edu 37 20 62173895 62173895 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_080823.2 -1 provisional p.E229K 0.997 54 0% 82 75.6% 2 100% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) superfamily_Kinase_like,superfamily_SSF55550 PRIC285 85441 genome.wustl.edu 37 20 62192602 62192602 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001037335.2 -1 reviewed p.R2327W 0.000 61 0% 91 29.7% 12 41.6% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases RTEL1 51750 genome.wustl.edu 37 20 62319311 62319311 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032957.3 +1 reviewed p.E501D 1.000 34 0% 94 33% 9 66.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL UCKL1 54963 genome.wustl.edu 37 20 62577254 62577254 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017859.2 -1 validated p.F162 0.883 349 0% 760 34.6% 45 48.8% - - - HMMPfam_PRK,superfamily_P-loop containing nucleoside triphosphate hydrolases NPBWR2 2832 genome.wustl.edu 37 20 62737332 62737332 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005286.2 -1 reviewed p.T285A 1.000 86 0% 126 33.3% 0 - benign(0.046) tolerated(0.12) neutral(0.263) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like NPBWR2 2832 genome.wustl.edu 37 20 62738053 62738053 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005286.2 -1 reviewed p.L44 0.996 45 0% 59 23.7% 0 - - - - superfamily_Family A G protein-coupled receptor-like MYT1 4661 genome.wustl.edu 37 20 62837141 62837141 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004535.2 +1 reviewed p.E129K 0.370 54 0% 97 35.1% 0 - benign(0.055) tolerated(0.38) neutral(0.021) NULL PCMTD2 55251 genome.wustl.edu 37 20 62891426 62891426 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018257.2 +1 validated p.I36 0.609 81 1.2% 83 30.1% 16 50% - - - HMMPfam_PCMT,superfamily_S-adenosyl-L-methionine-dependent methyltransferases TPTE 7179 genome.wustl.edu 37 21 10906959 10906959 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_199261.2 -1 validated p.E534D 0.108 558 0% 619 13.9% 0 - possibly_damaging(0.484) tolerated(0.05) deleterious(0.506) superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2 TPTE 7179 genome.wustl.edu 37 21 10906987 10906987 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_199261.2 -1 validated p.R525I 0.884 544 0.2% 568 12% 0 - benign(0.215) deleterious(0) neutral(0.466) superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2 TPTE 7179 genome.wustl.edu 37 21 10921992 10921992 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_199261.2 -1 validated p.R344I 0.957 202 0% 330 12.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II TPTE 7179 genome.wustl.edu 37 21 10934966 10934966 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_199261.2 -1 validated p.R276Q 0.567 603 0% 921 13.2% 0 - benign(0.008) tolerated(0.37) neutral(0.019) superfamily_(Phosphotyrosine protein) phosphatases II TPTE 7179 genome.wustl.edu 37 21 10942768 10942768 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_199261.2 -1 validated p.E225* 1.000 668 0% 831 14.7% 0 - - - - superfamily_Voltage-gated potassium channels TPTE 7179 genome.wustl.edu 37 21 10952957 10952957 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_199261.2 -1 validated p.K80N 0.001 245 0% 295 16.9% 0 - probably_damaging(0.954) tolerated(0.12) deleterious(0.658) superfamily_Voltage-gated potassium channels LIPI 149998 genome.wustl.edu 37 21 15561494 15561494 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198996.2 -1 validated p.R119M 0.001 194 0% 200 32% 0 - benign(0.116) deleterious(0.03) neutral(0.373) HMMPfam_Lipase,superfamily_SSF53474 SAMSN1 64092 genome.wustl.edu 37 21 15882775 15882775 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022136.3 -1 validated p.I139M 0.590 92 0% 140 21.4% 1 0% possibly_damaging(0.613) tolerated(0.27) neutral(0.246) superfamily_SH3-domain NRIP1 8204 genome.wustl.edu 37 21 16337367 16337367 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003489.3 -1 reviewed p.A1049 0.098 237 0% 221 34.4% 3 66.6% - - - NULL NRIP1 8204 genome.wustl.edu 37 21 16339425 16339425 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003489.3 -1 reviewed p.K363N 1.000 171 0% 173 37% 2 0% probably_damaging(0.988) deleterious(0.01) deleterious(0.843) NULL NRIP1 8204 genome.wustl.edu 37 21 16339598 16339598 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003489.3 -1 reviewed p.E306* 1.000 138 0% 161 32.3% 0 - - - - NULL USP25 29761 genome.wustl.edu 37 21 17163915 17163915 + Silent SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013396.3 +1 validated p.R163 1.000 356 0% 194 20.1% 5 20% - - - superfamily_Cysteine proteinases USP25 29761 genome.wustl.edu 37 21 17250136 17250136 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013396.3 +1 validated p.E941* 1.000 208 0% 234 32.1% 14 28.5% - - - NULL BTG3 10950 genome.wustl.edu 37 21 18970966 18970966 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001130914.1 -1 reviewed p.S207L 0.003 186 0% 140 38.6% 89 41.5% benign(0) tolerated(0.13) neutral(0.253) NULL BTG3 10950 genome.wustl.edu 37 21 18977179 18977179 + Missense_Mutation SNP G G C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001130914.1 -1 reviewed p.R104G 1.000 111 0% 151 27.8% 83 39.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_BTG,HMMSmart_SM00099 CHODL 140578 genome.wustl.edu 37 21 19638448 19638448 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000338326 +1 known p.K230T 0.998 54 0% 61 32.8% 1 0% unknown(0) - - NULL TMPRSS15 5651 genome.wustl.edu 37 21 19732165 19732165 + Silent SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002772.2 -1 reviewed p.L263 0.999 83 0% 31 35.5% 0 - - - - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain NCAM2 4685 genome.wustl.edu 37 21 22656537 22656537 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004540.2 +1 reviewed p.D52Y 1.000 199 0% 142 26.8% 0 - probably_damaging(0.995) deleterious(0.03) deleterious(0.822) HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 NCAM2 4685 genome.wustl.edu 37 21 22910222 22910222 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004540.2 +1 reviewed p.E820* 1.000 62 0% 54 31.5% 1 0% - - - NULL APP 351 genome.wustl.edu 37 21 27348303 27348303 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000448850 -1 known p.E324* 1.000 330 0% 478 33.7% 451 39.4% unknown(0) tolerated(0.11) - superfamily_CAPPD an extracellular domain of amyloid beta A4 protein CYYR1 116159 genome.wustl.edu 37 21 27945215 27945215 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_052954.2 -1 validated p.P15 0.985 22 0% 40 15% 3 0% - - - NULL ADAMTS5 11096 genome.wustl.edu 37 21 28296606 28296606 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007038.3 -1 reviewed p.K853N 0.820 192 0% 251 34.7% 0 - benign(0.419) tolerated(0.19) neutral(0.185) NULL ADAMTS5 11096 genome.wustl.edu 37 21 28304487 28304487 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007038.3 -1 reviewed p.R629C 1.000 175 0% 207 31.9% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL LTN1 26046 genome.wustl.edu 37 21 30302787 30302787 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015565.2 -1 validated p.R1762C 1.000 145 0% 164 34.8% 5 40% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00744,superfamily_RING/U-box LTN1 26046 genome.wustl.edu 37 21 30358476 30358476 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015565.2 -1 validated p.F110C 1.000 111 0% 129 28.7% 1 100% probably_damaging(0.98) deleterious(0) deleterious(0.869) superfamily_ARM repeat USP16 10600 genome.wustl.edu 37 21 30411452 30411452 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001032410.1 +1 reviewed p.E280* 1.000 75 0% 93 28% 4 0% - - - HMMPfam_UCH,superfamily_Cysteine proteinases CCT8 10694 genome.wustl.edu 37 21 30432865 30432865 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000432178 -1 known p.S81P 1.000 121 0% 196 30.1% 464 48% - - - HMMPfam_Cpn60_TCP1,superfamily_GroEL equatorial domain-like C21orf7 56911 genome.wustl.edu 37 21 30547197 30547197 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020152.2 +1 provisional p.R238M 1.000 115 0% 223 36.3% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL BACH1 571 genome.wustl.edu 37 21 30698986 30698986 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001186.2 +1 reviewed p.E281K 0.714 48 0% 107 27.1% 2 0% benign(0.244) tolerated(0.17) neutral(0.083) NULL GRIK1 2897 genome.wustl.edu 37 21 30963546 30963546 + Splice_Site SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000830.3 -1 reviewed e10-1 1.000 181 0% 235 30.2% 0 - - - - - GRIK1 2897 genome.wustl.edu 37 21 31066253 31066253 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000830.3 -1 reviewed p.R83I 1.000 241 0% 355 32.7% 0 - benign(0.408) tolerated(0.25) neutral(0.169) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I GRIK1 2897 genome.wustl.edu 37 21 31311717 31311717 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000830.3 -1 reviewed p.P34 1.000 114 0% 209 32.1% 0 - - - - superfamily_Periplasmic binding protein-like I KRTAP25-1 100131902 genome.wustl.edu 37 21 31661636 31661636 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001128598.1 -1 validated p.S58Y 0.000 144 0% 144 35.4% 0 - benign(0.001) - - NULL KRTAP27-1 643812 genome.wustl.edu 37 21 31709457 31709457 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001077711.1 -1 provisional p.V177A 0.001 125 0% 127 33.1% 0 - benign(0.147) tolerated(0.17) neutral(0.072) HMMPfam_PMG KRTAP13-2 337959 genome.wustl.edu 37 21 31720614 31720614 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000448917 -1 known p.G89* 0.252 138 0% 159 30.2% 0 - - - - HMMPfam_PMG KRTAP13-3 337960 genome.wustl.edu 37 21 31797995 31797995 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_181622.1 -1 provisional p.S79Y 0.639 167 0% 198 38.4% 0 - - - - HMMPfam_PMG KRTAP19-3 337970 genome.wustl.edu 37 21 31864264 31864264 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_181609.3 -1 validated p.Y4 0.001 298 0% 396 37.1% 0 - - - - NULL KRTAP19-5 337972 genome.wustl.edu 37 21 31874259 31874259 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_181611.1 -1 provisional p.F50 0.011 182 0% 205 37.6% 0 - - - - NULL KRTAP6-3 337968 genome.wustl.edu 37 21 31964943 31964943 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_181605.3 +1 validated p.G60D 0.001 496 0% 535 34.2% 0 - unknown(0) - - NULL KRTAP20-1 337975 genome.wustl.edu 37 21 31988915 31988915 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_181615.1 +1 provisional p.G48* 0.636 597 0% 650 30.9% 0 - - - - NULL KRTAP11-1 337880 genome.wustl.edu 37 21 32253404 32253404 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_175858.2 -1 validated p.V147A 0.051 65 0% 92 30.4% 0 - benign(0.004) deleterious(0.03) neutral(0.364) HMMPfam_PMG TIAM1 7074 genome.wustl.edu 37 21 32598178 32598178 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003253.2 -1 validated p.D558G 1.000 233 0% 412 35% 2 0% possibly_damaging(0.939) tolerated(0.29) neutral(0.414) NULL TIAM1 7074 genome.wustl.edu 37 21 32598195 32598195 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003253.2 -1 validated p.R552 0.030 229 0% 402 35.8% 1 0% - - - superfamily_SSF50729 SCAF4 57466 genome.wustl.edu 37 21 33057405 33057405 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020706.2 -1 reviewed p.T815 0.999 99 0% 163 24.5% 53 45.2% - - - NULL SCAF4 57466 genome.wustl.edu 37 21 33076135 33076135 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020706.2 -1 reviewed p.F88L 1.000 160 0% 181 23.8% 8 25% unknown(0) deleterious(0) - HMMSmart_SM00582,HMMPfam_DUF618,superfamily_ENTH/VHS domain HUNK 30811 genome.wustl.edu 37 21 33296971 33296971 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014586.1 +1 validated p.K151N 0.999 61 0% 60 30% 5 100% probably_damaging(0.992) tolerated(0.11) deleterious(0.719) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase URB1 9875 genome.wustl.edu 37 21 33717857 33717857 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014825.2 -1 validated p.R1299M 1.000 54 0% 87 28.7% 6 33.3% probably_damaging(0.955) deleterious(0.01) deleterious(0.804) NULL C21orf63 59271 genome.wustl.edu 37 21 33887347 33887347 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_058187.3 +1 validated p.S391 0.000 146 0% 238 30.7% 11 0% - - - NULL IFNAR1 3454 genome.wustl.edu 37 21 34721515 34721515 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000629.2 +1 reviewed p.Y303D 0.029 121 0% 235 27.2% 15 33.3% probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_Fibronectin type III IFNGR2 3460 genome.wustl.edu 37 21 34809262 34809262 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005534.3 +1 reviewed p.T336M 0.000 51 0% 109 25.7% 109 34.8% possibly_damaging(0.899) deleterious(0.01) deleterious(0.762) NULL DNAJC28 54943 genome.wustl.edu 37 21 34860956 34860956 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001040192.1 -1 validated p.D249N 1.000 205 0% 397 34.5% 2 50% possibly_damaging(0.713) deleterious(0) deleterious(0.702) HMMPfam_DUF1992 DNAJC28 54943 genome.wustl.edu 37 21 34861073 34861073 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001040192.1 -1 validated p.E210* 1.000 209 0% 389 36.2% 2 50% - - - HMMPfam_DUF1992 GART 2618 genome.wustl.edu 37 21 34889728 34889728 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000819.4 -1 reviewed p.I630 0.992 156 0% 311 30.9% 32 37.5% - - - HMMPfam_AIRS_C,superfamily_PurM C-terminal domain-like GART 2618 genome.wustl.edu 37 21 34903815 34903815 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000819.4 -1 reviewed p.L193F 1.000 123 0% 166 30.1% 24 41.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GARS_A,superfamily_Glutathione synthetase ATP-binding domain-like SON 6651 genome.wustl.edu 37 21 34922580 34922580 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138927.1 +1 reviewed p.S348L 0.028 118 0% 166 30.1% 7 28.5% benign(0.012) tolerated(0.08) neutral(0.300) NULL DONSON 29980 genome.wustl.edu 37 21 34953718 34953718 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017613.2 -1 reviewed p.F414V 1.000 119 0% 217 37.8% 18 61.1% probably_damaging(1) tolerated(0.08) deleterious(0.800) NULL CRYZL1 9946 genome.wustl.edu 37 21 34963498 34963498 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145858.2 -1 reviewed p.V307G 1.000 167 0% 359 35.4% 14 28.5% probably_damaging(0.981) deleterious(0) deleterious(0.870) superfamily_NAD(P)-binding Rossmann-fold domains CRYZL1 9946 genome.wustl.edu 37 21 34969630 34969630 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145858.2 -1 reviewed p.L252I 1.000 294 0% 546 28.4% 14 14.2% probably_damaging(0.995) deleterious(0) deleterious(0.902) superfamily_NAD(P)-binding Rossmann-fold domains ITSN1 6453 genome.wustl.edu 37 21 35169761 35169761 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003024.2 +1 reviewed p.H677 0.048 169 0% 383 28.7% 18 44.4% - - - NULL ITSN1 6453 genome.wustl.edu 37 21 35202043 35202043 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003024.2 +1 reviewed p.E1115 1.000 254 0% 418 21.5% 6 16.6% - - - HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain RUNX1 861 genome.wustl.edu 37 21 36259146 36259146 + Silent SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001754.4 -1 reviewed p.A115 0.998 47 0% 52 34.6% 14 28.5% - - - superfamily_p53-like transcription factors,HMMPfam_Runt SETD4 54093 genome.wustl.edu 37 21 37412940 37412940 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017438.3 -1 validated p.G333R 1.000 114 0% 228 39.5% 4 25% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Rubis-subs-bind SETD4 54093 genome.wustl.edu 37 21 37416218 37416218 + Missense_Mutation SNP C C T rs146928359 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017438.3 -1 validated p.E255K 1.000 109 0% 242 30.6% 26 38.4% possibly_damaging(0.827) deleterious(0.02) deleterious(0.697) HMMPfam_SET,superfamily_SET domain DOPEY2 9980 genome.wustl.edu 37 21 37618922 37618922 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005128.2 +1 validated p.N1548 0.898 40 0% 79 38% 7 14.2% - - - NULL MORC3 23515 genome.wustl.edu 37 21 37713713 37713713 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015358.2 +1 reviewed p.E209* 1.000 87 0% 205 32.7% 1 0% - - - superfamily_ATP_bd_ATPase MORC3 23515 genome.wustl.edu 37 21 37713755 37713755 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015358.2 +1 reviewed p.E223K 0.997 137 0% 348 35.1% 2 50% benign(0.273) tolerated(0.51) neutral(0.038) superfamily_ATP_bd_ATPase MORC3 23515 genome.wustl.edu 37 21 37741863 37741863 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015358.2 +1 reviewed p.E733* 0.996 75 0% 180 32.2% 2 0% - - - NULL PIGP 51227 genome.wustl.edu 37 21 38438000 38438000 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153681.2 -1 reviewed p.K120T 0.846 264 0% 414 37.7% 42 35.7% benign(0.167) tolerated(0.3) neutral(0.043) HMMPfam_PIG-P TTC3 7267 genome.wustl.edu 37 21 38536450 38536450 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001001894.1 +1 validated p.E1090K 0.001 148 0% 187 35.8% 28 57.1% possibly_damaging(0.882) deleterious(0) deleterious(0.789) superfamily_Spectrin,superfamily_SSF48452 TTC3 7267 genome.wustl.edu 37 21 38538230 38538230 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001001894.1 +1 validated p.K1238 0.000 102 0% 78 44.9% 44 38.6% - - - superfamily_Spectrin,superfamily_SSF48452 TTC3 7267 genome.wustl.edu 37 21 38545016 38545016 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001001894.1 +1 validated p.E1529D 0.984 99 0% 184 32.1% 32 40.6% benign(0.098) deleterious(0) neutral(0.452) superfamily_Spectrin,superfamily_SSF48452 TTC3 7267 genome.wustl.edu 37 21 38564453 38564453 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001001894.1 +1 validated p.S1719Y 0.051 207 0% 292 36% 42 33.3% possibly_damaging(0.805) deleterious(0.01) deleterious(0.709) NULL DSCR3 10311 genome.wustl.edu 37 21 38600650 38600650 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000309117 -1 known p.L178I 0.993 89 0% 125 40.8% 11 36.3% benign(0) tolerated(1) - HMMPfam_Vps26 DYRK1A 1859 genome.wustl.edu 37 21 38862744 38862744 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001396.3 +1 reviewed p.S311Y 1.000 119 0% 149 30.2% 9 22.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase KCNJ6 3763 genome.wustl.edu 37 21 39086614 39086614 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002240.2 -1 reviewed p.E282D 1.000 117 0% 158 36.1% 0 - possibly_damaging(0.908) deleterious(0.02) deleterious(0.744) HMMPfam_IRK,superfamily_Ig_E-set FLJ45139 400867 genome.wustl.edu 37 21 40250436 40250436 + RNA SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XR_078571.1 -1 model NULL 0.000 72 0% 102 33.3% 0 - - - - - BRWD1 54014 genome.wustl.edu 37 21 40569156 40569156 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018963.3 -1 reviewed p.D1947Y 0.908 147 0% 147 33.3% 4 25% possibly_damaging(0.908) deleterious(0) deleterious(0.806) superfamily_WD40 repeat-like BRWD1 54014 genome.wustl.edu 37 21 40571465 40571465 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018963.3 -1 reviewed p.R1626Q 0.986 92 0% 118 35.6% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_WD40 repeat-like BRWD1 54014 genome.wustl.edu 37 21 40590106 40590106 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018963.3 -1 reviewed p.R1211* 1.000 143 0% 270 36.3% 0 - - - - HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain,superfamily_WD40 repeat-like BRWD1 54014 genome.wustl.edu 37 21 40608671 40608671 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000455867 -1 known p.G540R 0.059 179 0% 297 37% 2 100% - - - NULL LCA5L 150082 genome.wustl.edu 37 21 40778020 40778020 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152505.3 -1 validated p.E601* 1.000 183 0% 280 31.8% 0 - - - - NULL LCA5L 150082 genome.wustl.edu 37 21 40781999 40781999 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152505.3 -1 validated p.I396 0.000 466 0.2% 643 31.6% 0 - - - - NULL LCA5L 150082 genome.wustl.edu 37 21 40800118 40800118 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152505.3 -1 validated p.S101Y 0.000 47 0% 40 32.5% 1 100% probably_damaging(0.961) deleterious(0.04) deleterious(0.753) NULL SH3BGR 6450 genome.wustl.edu 37 21 40847091 40847091 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007341.2 +1 validated p.E151K 1.000 276 0% 308 32.8% 4 25% benign(0.396) tolerated(0.47) neutral(0.138) HMMPfam_SH3BGR,superfamily_Thiordxn-like_fd B3GALT5 10317 genome.wustl.edu 37 21 41032583 41032583 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006057.1 +1 reviewed p.E33* 0.001 253 0% 372 36% 0 - - - - NULL PCP4 5121 genome.wustl.edu 37 21 41270431 41270431 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006198.2 +1 validated p.D14Y 1.000 234 0% 383 26.6% 10 40% unknown(0) - - NULL DSCAM 1826 genome.wustl.edu 37 21 41414598 41414598 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001389.3 -1 validated p.R1796* 1.000 176 0% 291 41.9% 0 - - - - NULL DSCAM 1826 genome.wustl.edu 37 21 41446967 41446967 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001389.3 -1 validated p.R1629* 0.109 114 0% 152 27% 0 - - - - NULL DSCAM 1826 genome.wustl.edu 37 21 41450636 41450636 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001389.3 -1 validated p.F1563 0.998 130 0% 162 29% 0 - - - - NULL DSCAM 1826 genome.wustl.edu 37 21 41711087 41711087 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001389.3 -1 validated p.S489L 1.000 176 0% 257 38.1% 0 - benign(0.018) tolerated(0.13) neutral(0.253) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin MX2 4600 genome.wustl.edu 37 21 42778876 42778876 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002463.1 +1 reviewed p.S619L 0.000 143 0% 250 32% 4 25% benign(0) deleterious(0.03) neutral(0.364) HMMPfam_GED,HMMSmart_GED LOC100288232 100288232 genome.wustl.edu 37 21 43279352 43279352 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002343752.1 +1 model p.E544* 0.000 27 0% 37 37.8% 0 - - - - NULL ZNF295 49854 genome.wustl.edu 37 21 43411021 43411021 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001098402.1 -1 validated p.E1062K 1.000 177 0% 298 34.2% 4 75% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF295 49854 genome.wustl.edu 37 21 43412720 43412720 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001098402.1 -1 validated p.K495N 0.997 225 0% 334 36.5% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ZNF295-AS1 150142 genome.wustl.edu 37 21 43444555 43444555 + RNA SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NR_027273.1 +1 validated NULL 0.000 368 0% 573 31.4% 0 - - - - - UMODL1 89766 genome.wustl.edu 37 21 43533760 43533760 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173568.3 +1 validated p.A856S 0.000 116 0% 134 36.6% 0 - benign(0.156) tolerated(0.29) neutral(0.043) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III UMODL1 89766 genome.wustl.edu 37 21 43547182 43547182 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173568.3 +1 validated p.I1248 0.718 122 0% 212 34.9% 0 - - - - HMMPfam_Zona_pellucida,HMMSmart_SM00241 ABCG1 9619 genome.wustl.edu 37 21 43702515 43702515 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004915.3 +1 reviewed p.F240 0.944 48 0% 62 35.5% 22 27.2% - - - HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases TMPRSS3 64699 genome.wustl.edu 37 21 43809147 43809147 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024022.2 -1 reviewed p.F71 0.999 56 0% 103 27.2% 1 100% - - - superfamily_LDL receptor-like module UBASH3A 53347 genome.wustl.edu 37 21 43829550 43829550 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018961.2 +1 validated p.D63Y 1.000 166 0% 219 34.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_UBA-like PDE9A 5152 genome.wustl.edu 37 21 44151908 44151908 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002606.2 +1 reviewed p.S97 0.003 45 0% 87 34.5% 0 - - - - NULL PDE9A 5152 genome.wustl.edu 37 21 44182324 44182324 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002606.2 +1 reviewed p.P406H 0.013 83 0% 130 33.1% 5 40% benign(0.066) tolerated(0.11) neutral(0.276) HMMPfam_PDEase_I,HMMSmart_SM00471,superfamily_HD-domain/PDEase-like PDE9A 5152 genome.wustl.edu 37 21 44185540 44185540 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002606.2 +1 reviewed p.I431S 0.998 112 0% 275 38.5% 5 20% benign(0.271) deleterious(0) deleterious(0.474) HMMPfam_PDEase_I,HMMSmart_SM00471,superfamily_HD-domain/PDEase-like CBS 875 genome.wustl.edu 37 21 44474094 44474094 + Splice_Site SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000071.2 -1 reviewed e15-1 1.000 31 0% 39 23.1% 0 - - - - - CRYAA 1409 genome.wustl.edu 37 21 44592283 44592283 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000394.2 +1 reviewed p.L139M 1.000 62 0% 84 35.7% 0 - possibly_damaging(0.446) deleterious(0.01) deleterious(0.551) HMMPfam_HSP20,superfamily_HSP20-like chaperones TRAPPC10 7109 genome.wustl.edu 37 21 45509781 45509781 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003274.4 +1 reviewed p.R946M 1.000 115 0% 147 38.1% 13 38.4% possibly_damaging(0.691) tolerated(0.16) neutral(0.307) NULL C21orf33 8209 genome.wustl.edu 37 21 45563143 45563143 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004649.6 +1 reviewed p.T193N 1.000 46 0% 75 30.7% 65 35.3% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_DJ-1_PfpI,superfamily_Class I glutamine amidotransferase-like TRPM2 7226 genome.wustl.edu 37 21 45820197 45820197 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003307.3 +1 reviewed p.R755H 0.996 58 0% 77 31.2% 0 - possibly_damaging(0.915) deleterious(0.05) deleterious(0.712) NULL TRPM2 7226 genome.wustl.edu 37 21 45825817 45825817 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003307.3 +1 reviewed p.R896H 0.992 30 0% 50 24% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans LRRC3 81543 genome.wustl.edu 37 21 45876782 45876782 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030891.3 +1 validated p.Q85 1.000 18 0% 30 33.3% 0 - - - - superfamily_SSF52058 KRTAP10-6 386674 genome.wustl.edu 37 21 46011869 46011869 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198688.2 -1 validated p.S166F 0.030 236 0% 331 33.2% 0 - unknown(0) deleterious(0.01) - NULL KRTAP10-7 386675 genome.wustl.edu 37 21 46020568 46020568 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000380102 +1 known p.G16D 0.001 174 0% 229 34.9% 0 - probably_damaging(0.998) tolerated(0.07) deleterious(0.793) NULL KRTAP10-11 386678 genome.wustl.edu 37 21 46066567 46066567 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198692.2 +1 validated p.P64 0.995 125 0% 139 36.7% 0 - - - - HMMPfam_Keratin_B2 KRTAP10-12 386685 genome.wustl.edu 37 21 46117708 46117708 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198699.1 +1 provisional p.L198I 0.981 151 0% 181 32% 0 - unknown(0) tolerated(0.31) - HMMPfam_Keratin_B2 SUMO3 6612 genome.wustl.edu 37 21 46229001 46229001 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006936.2 -1 validated p.F61 1.000 159 0% 240 38.8% 104 28.8% - - - HMMPfam_ubiquitin,HMMSmart_SM00213,superfamily_Ubiquitin-like LINC00315 246704 genome.wustl.edu 37 21 46724408 46724408 + RNA SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XR_041771.1 -1 model NULL 0.012 56 0% 64 34.4% 0 - - - - - COL18A1 80781 genome.wustl.edu 37 21 46888301 46888301 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_130444.2 +1 reviewed p.F499 0.345 58 0% 57 21.1% 47 12.7% - - - HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases COL18A1 80781 genome.wustl.edu 37 21 46900006 46900006 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_130444.2 +1 reviewed p.R860I 0.275 40 0% 51 39.2% 61 6.5% unknown(0) tolerated(0.23) - NULL PCBP3 54039 genome.wustl.edu 37 21 47350749 47350749 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020528.2 +1 reviewed p.G282 1.000 93 0% 137 33.6% 4 0% - - - superfamily_Eukaryotic type KH-domain (KH-domain type I) COL6A1 1291 genome.wustl.edu 37 21 47423750 47423750 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001848.2 +1 reviewed p.F970 1.000 6 0.000 8 0.500 270 0.3% - - - HMMPfam_VWA,HMMSmart_VWA,superfamily_SSF53300 COL6A2 1292 genome.wustl.edu 37 21 47542437 47542437 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001849.3 +1 reviewed p.G534S 0.994 55 0% 88 28.4% 338 0% unknown(0) deleterious(0) - HMMPfam_Collagen COL6A2 1292 genome.wustl.edu 37 21 47545947 47545947 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001849.3 +1 reviewed p.D740N 0.812 33 0% 38 39.5% 778 0% benign(0.019) - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like FTCD 10841 genome.wustl.edu 37 21 47557228 47557228 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000355384 -1 known p.D474N 0.995 85 0% 120 35% 0 - unknown(0) - - NULL MCM3AP 8888 genome.wustl.edu 37 21 47663377 47663377 + Splice_Site SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003906.3 -1 reviewed e24+2 0.996 28 0% 50 42% 2 100% - - - - MCM3AP 8888 genome.wustl.edu 37 21 47663440 47663440 + Silent SNP G G A rs139383180 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003906.3 -1 reviewed p.I1745 0.009 46 0% 79 40.5% 24 0% - - - NULL PCNT 5116 genome.wustl.edu 37 21 47801681 47801681 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006031.5 +1 reviewed p.A1080T 0.002 147 0% 255 37.6% 3 0% benign(0.009) tolerated(0.29) neutral(0.030) NULL LOC729057 729057 genome.wustl.edu 37 22 16123396 16123396 + RNA SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XR_042044.2 +1 model NULL 0.997 97 0% 114 13.2% 0 - - - - - LOC729057 729057 genome.wustl.edu 37 22 16123499 16123499 + RNA SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XR_042044.2 +1 model NULL 0.460 168 0% 168 11.9% 0 - - - - - POTEH 23784 genome.wustl.edu 37 22 16269931 16269931 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001136213.1 -1 provisional p.K417T 0.008 665 0% 858 9.7% 0 - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL OR11H1 81061 genome.wustl.edu 37 22 16449562 16449562 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005239.1 -1 provisional p.F81 1.000 444 0% 492 9.8% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 GAB4 128954 genome.wustl.edu 37 22 17445707 17445707 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001037814.1 -1 provisional p.Q475H 1.000 468 0% 861 33.4% 0 - unknown(0) deleterious(0.01) - NULL GAB4 128954 genome.wustl.edu 37 22 17447056 17447056 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001037814.1 -1 provisional p.D408Y 1.000 59 0% 109 32.1% 0 - unknown(0) deleterious(0.05) - NULL GAB4 128954 genome.wustl.edu 37 22 17447170 17447170 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001037814.1 -1 provisional p.P370S 0.336 51 0% 74 28.4% 0 - unknown(0) tolerated(0.51) - NULL GAB4 128954 genome.wustl.edu 37 22 17473061 17473061 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001037814.1 -1 provisional p.W60C 1.000 119 0.8% 141 29.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 CECR1 51816 genome.wustl.edu 37 22 17662787 17662787 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017424.2 -1 reviewed p.F455L 1.000 84 0% 191 24.1% 5 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_A_deaminase,superfamily_SSF51556 LOC100288065 100288065 genome.wustl.edu 37 22 18066146 18066146 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002344192.1 -1 model p.R149 0.000 66 0% 153 36.6% 0 - - - - NULL ATP6V1E1 529 genome.wustl.edu 37 22 18082825 18082825 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001696.3 -1 reviewed p.R135C 0.995 26 0% 62 27.4% 150 32% benign(0.2) deleterious(0) neutral(0.464) HMMPfam_vATP-synt_E BID 637 genome.wustl.edu 37 22 18222118 18222118 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_197966.1 -1 reviewed p.E166D 0.130 52 0% 52 42.3% 30 40% possibly_damaging(0.867) deleterious(0.03) deleterious(0.701) HMMPfam_BID,superfamily_SSF56854 MICAL3 57553 genome.wustl.edu 37 22 18305776 18305776 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015241.2 -1 provisional p.E1082K 1.000 222 0% 276 36.2% 3 33.3% benign(0.077) deleterious(0) neutral(0.450) NULL DGCR2 9993 genome.wustl.edu 37 22 19050756 19050756 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005137.2 -1 reviewed p.R195Q 1.000 73 0% 228 37.3% 43 44.1% probably_damaging(1) tolerated(0.3) deleterious(0.528) HMMSmart_CLECT,superfamily_C-type_lectin_fold TSSK2 23617 genome.wustl.edu 37 22 19118945 19118945 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_053006.4 +1 validated p.G11 1.000 16 0% 43 39.5% 5 20% - - - superfamily_Protein kinase-like (PK-like) TSSK2 23617 genome.wustl.edu 37 22 19119793 19119793 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_053006.4 +1 validated p.R294H 0.916 15 0% 42 42.9% 3 66.6% benign(0.015) tolerated(0.13) neutral(0.253) NULL HIRA 7290 genome.wustl.edu 37 22 19319018 19319018 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003325.3 -1 reviewed p.F1000C 1.000 43 0% 80 30% 57 45.6% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL HIRA 7290 genome.wustl.edu 37 22 19379724 19379724 + Missense_Mutation SNP T T A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003325.3 -1 reviewed p.K279I 1.000 97 0% 139 44.6% 15 53.3% benign(0.345) deleterious(0.02) deleterious(0.492) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 C22orf39 128977 genome.wustl.edu 37 22 19431873 19431873 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173793.4 -1 validated p.A78E 0.045 32 0% 35 48.6% 4 25% benign(0.323) tolerated(0.87) neutral(0.102) NULL UFD1L 7353 genome.wustl.edu 37 22 19459280 19459280 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005659.6 -1 reviewed p.S74L 1.000 84 0% 128 39.8% 119 31.9% benign(0) tolerated(0.15) neutral(0.241) HMMPfam_UFD1 CDC45 8318 genome.wustl.edu 37 22 19496119 19496119 + Silent SNP C C T rs184840047 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003504.3 +1 reviewed p.S374 0.497 181 0% 283 31.8% 29 34.4% - - - HMMPfam_CDC45 CDC45 8318 genome.wustl.edu 37 22 19504166 19504166 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003504.3 +1 reviewed p.K519N 1.000 82 0% 121 36.4% 30 33.3% probably_damaging(0.994) tolerated(0.07) deleterious(0.771) HMMPfam_CDC45 SEPT5 5413 genome.wustl.edu 37 22 19709370 19709370 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000438754 +1 known p.R286C 0.997 41 0% 49 38.8% 10 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL C22orf29 79680 genome.wustl.edu 37 22 19839229 19839229 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024627.5 -1 validated p.A186S 0.005 63 0% 73 32.9% 9 0% possibly_damaging(0.868) deleterious(0) deleterious(0.782) NULL C22orf25 128989 genome.wustl.edu 37 22 20040909 20040909 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000450019 +1 known p.E98K 0.000 38 0% 63 44.4% 0 - benign(0.062) tolerated(0.11) neutral(0.276) NULL RTN4R 65078 genome.wustl.edu 37 22 20230372 20230372 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_023004.5 -1 reviewed p.R95Q 0.671 23 0% 25 32% 1 0% benign(0.048) tolerated(0.31) neutral(0.030) superfamily_SSF52058 RIMBP3 85376 genome.wustl.edu 37 22 20456719 20456719 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015672.1 -1 validated p.R1528M 0.000 253 0% 450 18.2% 0 - probably_damaging(0.995) tolerated(0.07) deleterious(0.776) NULL KLHL22 84861 genome.wustl.edu 37 22 20812181 20812181 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032775.2 -1 validated p.R407C 0.997 60 0% 50 38% 23 52.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain LZTR1 8216 genome.wustl.edu 37 22 21340155 21340155 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006767.3 +1 reviewed p.R97W 1.000 69 0% 120 37.5% 8 25% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain FLJ39582 353117 genome.wustl.edu 37 22 21363728 21363728 + RNA SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NR_027051.1 +1 validated NULL 0.603 60 0% 69 15.9% 0 - - - - - CCDC116 164592 genome.wustl.edu 37 22 21990876 21990876 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152612.2 +1 provisional p.F453 0.218 60 0% 82 29.3% 1 100% - - - NULL ZNF280A 129025 genome.wustl.edu 37 22 22869856 22869856 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_080740.3 -1 reviewed p.I33 0.005 178 0.6% 274 22.3% 0 - - - - NULL GGTLC2 91227 genome.wustl.edu 37 22 22990110 22990110 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_199127.2 +1 validated p.A186T 0.537 24 0% 39 30.8% 2 0% benign(0) tolerated(0.4) neutral(0.016) HMMPfam_G_glu_transpept IGLV3-16 28799 genome.wustl.edu 37 22 23090161 23090161 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000390311 +1 known p.G34* 0.480 98 0% 206 34% 0 - - - - HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin IGLV4-3 28786 genome.wustl.edu 37 22 23214124 23214124 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000390318 +1 known p.R94H 0.000 79 0% 86 40.7% 0 - possibly_damaging(0.711) tolerated(0.09) deleterious(0.553) HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin RGL4 266747 genome.wustl.edu 37 22 24034601 24034601 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153615.1 +1 provisional p.R87W 0.000 275 0% 518 27% 2 50% benign(0) tolerated(0.09) neutral(0.296) NULL CABIN1 23523 genome.wustl.edu 37 22 24456467 24456467 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012295.2 +1 reviewed p.A494S 1.000 70 0% 132 40.2% 11 72.7% benign(0) tolerated(0.6) neutral(0.004) NULL CABIN1 23523 genome.wustl.edu 37 22 24562613 24562613 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012295.2 +1 reviewed p.E1672* 1.000 18 0% 25 48% 33 18.1% - - - NULL LOC100287161 100287161 genome.wustl.edu 37 22 24656808 24656808 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002343792.1 -1 model p.P95S 1.000 134 0.7% 210 21.9% 0 - - - - HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP SPECC1L 23384 genome.wustl.edu 37 22 24717783 24717783 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145468.1 +1 validated p.E279* 1.000 70 0% 98 27.6% 6 16.6% - - - NULL SPECC1L 23384 genome.wustl.edu 37 22 24724866 24724866 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145468.1 +1 validated p.K733N 1.000 147 0% 195 36.4% 10 20% probably_damaging(0.998) tolerated(0.13) deleterious(0.727) NULL SPECC1L 23384 genome.wustl.edu 37 22 24836575 24836575 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000493440 +1 known p.R52Q 0.000 70 0% 82 36.6% 4 50% unknown(0) - - NULL UPB1 51733 genome.wustl.edu 37 22 24891466 24891466 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016327.2 +1 reviewed p.K32R 1.000 37 0% 47 38.3% 0 - benign(0.414) tolerated(0.47) neutral(0.145) NULL UPB1 51733 genome.wustl.edu 37 22 24909330 24909330 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016327.2 +1 reviewed p.I166 1.000 103 0% 150 24.7% 0 - - - - HMMPfam_CN_hydrolase,superfamily_Carbon-nitrogen hydrolase UPB1 51733 genome.wustl.edu 37 22 24909451 24909451 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016327.2 +1 reviewed p.E207K 1.000 53 0% 95 24.2% 0 - possibly_damaging(0.863) deleterious(0.02) deleterious(0.717) HMMPfam_CN_hydrolase,superfamily_Carbon-nitrogen hydrolase PIWIL3 440822 genome.wustl.edu 37 22 25119100 25119100 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001008496.2 -1 validated p.E794G 0.995 280 0% 474 32.9% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Piwi,superfamily_RNaseH_fold SGSM1 129049 genome.wustl.edu 37 22 25315899 25315899 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001039948.2 +1 validated p.V1099 1.000 163 0.6% 326 31.6% 0 - - - - HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p SGSM1 129049 genome.wustl.edu 37 22 25320205 25320205 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001039948.2 +1 validated p.L1137 0.938 63 0% 89 24.7% 0 - - - - superfamily_Ypt/Rab-GAP domain of gyp1p TMEM211 255349 genome.wustl.edu 37 22 25331512 25331512 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001001663.1 -1 provisional p.P60S 0.839 51 0% 119 34.5% 0 - probably_damaging(0.995) tolerated(0.09) deleterious(0.754) HMMPfam_L_HGMIC_fpl ADRBK2 157 genome.wustl.edu 37 22 26086233 26086233 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005160.3 +1 reviewed p.K345N 1.000 158 0% 217 35% 5 60% benign(0.374) tolerated(0.59) neutral(0.123) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase ADRBK2 157 genome.wustl.edu 37 22 26110531 26110531 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005160.3 +1 reviewed p.E550K 1.000 99 0% 166 30.7% 2 50% benign(0.192) tolerated(0.18) neutral(0.074) NULL MYO18B 84700 genome.wustl.edu 37 22 26159209 26159209 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032608.5 +1 reviewed p.E17D 1.000 72 0% 104 37.5% 0 - probably_damaging(0.987) deleterious(0) deleterious(0.881) NULL MYO18B 84700 genome.wustl.edu 37 22 26231386 26231386 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032608.5 +1 reviewed p.E1062K 1.000 116 0% 237 41.8% 0 - possibly_damaging(0.863) tolerated(0.11) deleterious(0.605) HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO18B 84700 genome.wustl.edu 37 22 26242122 26242122 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032608.5 +1 reviewed p.A1142T 0.096 58 0% 72 31.9% 0 - benign(0.001) tolerated(0.07) neutral(0.319) HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO18B 84700 genome.wustl.edu 37 22 26273958 26273958 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032608.5 +1 reviewed p.E1419D 0.017 293 0% 507 33.1% 0 - possibly_damaging(0.917) tolerated(0.12) deleterious(0.629) NULL MYO18B 84700 genome.wustl.edu 37 22 26399265 26399265 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032608.5 +1 reviewed p.R2108* 0.008 116 0.9% 108 19.4% 0 - - - - NULL MYO18B 84700 genome.wustl.edu 37 22 26423555 26423555 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032608.5 +1 reviewed p.E2539K 0.088 98 0% 147 37.4% 0 - probably_damaging(0.989) deleterious(0) deleterious(0.884) NULL SEZ6L 23544 genome.wustl.edu 37 22 26688377 26688377 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021115.4 +1 validated p.L34I 0.000 37 0% 59 28.8% 0 - possibly_damaging(0.468) tolerated(0.38) neutral(0.171) NULL SEZ6L 23544 genome.wustl.edu 37 22 26761393 26761393 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021115.4 +1 validated p.I885 0.999 57 0% 72 29.2% 1 100% - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CRYBB1 1414 genome.wustl.edu 37 22 27003882 27003882 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001887.3 -1 reviewed p.R135W 1.000 42 0% 62 41.9% 1 0% benign(0.311) tolerated(0.19) neutral(0.147) HMMPfam_Crystall,HMMSmart_XTALbg,superfamily_G_crystallin_SF CRYBB1 1414 genome.wustl.edu 37 22 27003891 27003891 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001887.3 -1 reviewed p.R132C 1.000 46 0% 59 32.2% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Crystall,HMMSmart_XTALbg,superfamily_G_crystallin_SF PITPNB 23760 genome.wustl.edu 37 22 28315109 28315109 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000436663 -1 known p.D3Y 0.004 156 0% 212 33% 0 - benign(0.386) - - NULL TTC28 23331 genome.wustl.edu 37 22 28503576 28503576 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145418.1 -1 validated p.E753K 1.000 195 0% 244 32.8% 2 50% benign(0.261) tolerated(0.07) neutral(0.346) superfamily_SSF48452 CHEK2 11200 genome.wustl.edu 37 22 29092924 29092924 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005735.1 -1 reviewed p.L397V 0.992 179 0% 302 31.8% 17 52.9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase EMID1 129080 genome.wustl.edu 37 22 29611594 29611594 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_133455.2 +1 validated p.G98 0.658 74 0% 116 39.7% 21 57.1% - - - HMMPfam_EMI RFPL1 5988 genome.wustl.edu 37 22 29837600 29837600 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021026.2 +1 validated p.R148Q 0.000 266 0% 460 37.2% 0 - probably_damaging(0.978) tolerated(0.42) neutral(0.434) HMMSmart_PRY NEFH 4744 genome.wustl.edu 37 22 29884892 29884892 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021076.3 +1 reviewed p.S421 0.560 97 0% 222 35.1% 0 - - - - NULL NEFH 4744 genome.wustl.edu 37 22 29885882 29885882 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021076.3 +1 reviewed p.K751N 0.994 135 0% 362 34.3% 0 - probably_damaging(0.997) tolerated(0.1) deleterious(0.752) NULL THOC5 8563 genome.wustl.edu 37 22 29932681 29932681 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001002877.1 -1 validated p.L216I 1.000 192 0% 359 32.9% 26 46.1% benign(0.268) tolerated(0.15) neutral(0.270) HMMPfam_FimP NIPSNAP1 8508 genome.wustl.edu 37 22 29965242 29965242 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003634.2 -1 reviewed p.D103N 1.000 70 0% 118 31.4% 70 52.8% probably_damaging(0.995) tolerated(0.57) neutral(0.464) NULL NF2 4771 genome.wustl.edu 37 22 30032797 30032797 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000268.3 +1 reviewed p.E58* 1.000 193 0% 364 32.1% 15 33.3% - - - HMMPfam_FERM_N,HMMSmart_SM00295,superfamily_Ubiquitin-like ASCC2 84164 genome.wustl.edu 37 22 30197098 30197098 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032204.3 -1 provisional p.E524* 0.995 144 0% 324 28.7% 42 16.6% - - - NULL MTMR3 8897 genome.wustl.edu 37 22 30374976 30374976 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021090.3 +1 reviewed p.E49K 1.000 162 0% 289 31.1% 8 75% probably_damaging(0.971) tolerated(0.6) neutral(0.417) superfamily_PH domain-like MTMR3 8897 genome.wustl.edu 37 22 30409419 30409419 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021090.3 +1 reviewed p.E464 1.000 331 0% 454 32.4% 12 66.6% - - - HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II SF3A1 10291 genome.wustl.edu 37 22 30738244 30738244 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005877.4 -1 reviewed p.I274 0.290 122 0% 196 21.9% 42 23.8% - - - NULL CCDC157 550631 genome.wustl.edu 37 22 30769913 30769913 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001017437.2 +1 validated p.E502G 1.000 28 0% 41 34.1% 7 57.1% probably_damaging(0.997) tolerated(0.14) deleterious(0.716) superfamily_Prefoldin SEC14L3 266629 genome.wustl.edu 37 22 30862365 30862365 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_174975.4 -1 reviewed p.E179G 1.000 154 0% 285 28.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CRAL_TRIO,HMMSmart_SEC14,superfamily_CRAL_TRIO_C SEC14L4 284904 genome.wustl.edu 37 22 30891317 30891317 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_174977.3 -1 reviewed p.S116F 1.000 76 0% 124 35.5% 0 - probably_damaging(0.988) deleterious(0.01) deleterious(0.843) HMMPfam_CRAL_TRIO,HMMSmart_SM00516,superfamily_CRAL/TRIO domain OSBP2 23762 genome.wustl.edu 37 22 31286872 31286872 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030758.3 +1 reviewed p.R594H 1.000 67 0% 114 24.6% 9 55.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Oxysterol_BP INPP5J 27124 genome.wustl.edu 37 22 31521762 31521762 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000331075 +1 known p.R346Q 0.963 55 0% 175 27.4% 0 - probably_damaging(0.976) deleterious(0) deleterious(0.863) NULL INPP5J 27124 genome.wustl.edu 37 22 31522914 31522914 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001002837.1 +1 validated p.S133L 0.283 37 0% 72 40.3% 2 0% possibly_damaging(0.46) tolerated(0.08) neutral(0.451) HMMSmart_IPPc,HMMPfam_Exo_endo_phos,superfamily_Exo_endo_phos INPP5J 27124 genome.wustl.edu 37 22 31529903 31529903 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001002837.1 +1 validated p.S472L 0.999 26 0% 46 23.9% 10 60% probably_damaging(0.99) tolerated(0.14) deleterious(0.691) NULL PLA2G3 50487 genome.wustl.edu 37 22 31534698 31534698 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015715.3 -1 validated p.R201Q 1.000 289 0% 590 37.1% 0 - probably_damaging(1) tolerated(0.29) deleterious(0.529) HMMPfam_Phospholip_A2_2,superfamily_Phospholipase A2 PLA2 PLA2G3 50487 genome.wustl.edu 37 22 31536060 31536060 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015715.3 -1 validated p.G94D 0.000 26 0% 59 42.4% 1 100% benign(0.43) tolerated(0.11) neutral(0.412) NULL PATZ1 23598 genome.wustl.edu 37 22 31731715 31731715 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014323.2 -1 reviewed p.S490 0.633 162 0% 238 30.7% 49 46.9% - - - superfamily_C2H2 and C2HC zinc fingers EIF4ENIF1 56478 genome.wustl.edu 37 22 31859810 31859810 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019843.3 -1 reviewed p.R148C 1.000 87 0% 122 44.3% 11 18.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_EIF4E-T SFI1 9814 genome.wustl.edu 37 22 32010835 32010835 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001007467.1 +1 validated p.A1019 0.156 64 0% 62 38.7% 17 23.5% - - - NULL PRR14L 253143 genome.wustl.edu 37 22 32109587 32109587 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173566.2 -1 validated p.T1413M 0.000 119 0% 285 36.1% 8 50% benign(0.007) deleterious(0.02) neutral(0.383) NULL PRR14L 253143 genome.wustl.edu 37 22 32134505 32134505 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173566.2 -1 validated p.S114 0.000 130 0% 284 35.2% 4 50% - - - NULL DEPDC5 9681 genome.wustl.edu 37 22 32150967 32150967 + Splice_Site SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014662.2 +1 validated e1+2 1.000 320 0% 952 29% 3 100% - - - - DEPDC5 9681 genome.wustl.edu 37 22 32217579 32217579 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000433147 +1 known p.L52I 1.000 88 0% 161 34.2% 4 50% - - - NULL DEPDC5 9681 genome.wustl.edu 37 22 32234829 32234829 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014662.2 +1 validated p.R829Q 1.000 107 0% 187 35.3% 1 0% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) NULL C22orf24 25775 genome.wustl.edu 37 22 32330252 32330252 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015372.1 -1 predicted p.S112I 0.259 170 0% 383 37.6% 2 50% benign(0.201) - - NULL C22orf24 25775 genome.wustl.edu 37 22 32330414 32330414 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015372.1 -1 predicted p.S58Y 0.005 134 0% 334 37.1% 0 - benign(0.347) - - NULL RFPL2 10739 genome.wustl.edu 37 22 32587002 32587002 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006605.3 -1 validated p.F237 0.123 214 0% 350 42.3% 0 - - - - HMMPfam_SPRY,HMMSmart_SM00449 SLC5A4 6527 genome.wustl.edu 37 22 32621800 32621800 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014227.2 -1 validated p.L431I 0.004 104 0% 195 29.7% 0 - benign(0) tolerated(0.41) neutral(0.015) HMMPfam_SSF RFPL3-AS1 10737 genome.wustl.edu 37 22 32756076 32756076 + RNA SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NR_001450.2 -1 provisional NULL 0.001 51 0% 51 51% 0 - - - - - BPIFC 254240 genome.wustl.edu 37 22 32828360 32828360 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_174932.2 -1 validated p.F383 0.997 248 0% 414 34.5% 0 - - - - HMMPfam_LBP_BPI_CETP_C,HMMSmart_BPI2,superfamily_Bactericidal_perm-incr_a/b_dom FBXO7 25793 genome.wustl.edu 37 22 32894502 32894502 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012179.3 +1 reviewed p.R518 0.000 42 0% 47 29.8% 126 44.4% - - - NULL SYN3 8224 genome.wustl.edu 37 22 33260974 33260974 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003490.3 -1 reviewed p.K213N 1.000 227 0% 378 28.3% 0 - unknown(0) tolerated(0.37) - HMMPfam_Synapsin_C,superfamily_Glutathione synthetase ATP-binding domain-like LARGE 9215 genome.wustl.edu 37 22 34157362 34157362 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004737.4 -1 reviewed p.F34 1.000 168 0% 216 33.8% 5 60% - - - NULL HMGXB4 10042 genome.wustl.edu 37 22 35660803 35660803 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001003681.2 +1 validated p.S141L 0.992 50 0% 91 42.9% 2 50% benign(0.315) deleterious(0.05) neutral(0.444) NULL RASD2 23551 genome.wustl.edu 37 22 35947597 35947597 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014310.3 +1 reviewed p.D107N 1.000 95 0% 129 33.3% 0 - benign(0.097) deleterious(0.01) neutral(0.413) HMMSmart_RAS,HMMPfam_Ras,superfamily_SSF52540 APOL6 80830 genome.wustl.edu 37 22 36054765 36054765 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030641.3 +1 reviewed p.D52Y 0.001 98 0% 149 36.9% 0 - benign(0.002) tolerated(0.06) neutral(0.323) HMMPfam_ApoL APOL5 80831 genome.wustl.edu 37 22 36122895 36122895 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030642.1 +1 reviewed p.K260N 0.001 111 0% 222 38.7% 0 - possibly_damaging(0.896) tolerated(0.07) deleterious(0.672) HMMPfam_ApoL RBFOX2 23543 genome.wustl.edu 37 22 36157506 36157506 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001082578.1 -1 reviewed p.L276S 1.000 171 0% 182 29.7% 42 40.4% probably_damaging(1) deleterious(0) deleterious(0.945) NULL MYH9 4627 genome.wustl.edu 37 22 36684979 36684979 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002473.4 -1 reviewed p.E1522K 1.000 111 0% 142 41.5% 442 27.6% probably_damaging(0.982) deleterious(0) deleterious(0.871) HMMPfam_Myosin_tail_1,superfamily_Prefoldin MYH9 4627 genome.wustl.edu 37 22 36705423 36705423 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002473.4 -1 reviewed p.E583K 1.000 166 0% 294 36.7% 212 31.6% benign(0.001) tolerated(0.57) neutral(0.006) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases CSF2RB 1439 genome.wustl.edu 37 22 37326847 37326847 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000395.2 +1 reviewed p.E329D 0.918 57 0% 34 41.2% 0 - benign(0.008) tolerated(0.31) neutral(0.027) NULL CSF2RB 1439 genome.wustl.edu 37 22 37334078 37334078 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000395.2 +1 reviewed p.S743I 0.000 45 0% 44 34.1% 3 0% probably_damaging(0.976) deleterious(0.01) deleterious(0.824) NULL TEX33 339669 genome.wustl.edu 37 22 37387277 37387277 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000442538 -1 known p.E121* 1.000 274 0% 490 34.3% 0 - benign(0.253) deleterious(0.01) neutral(0.432) NULL TMPRSS6 164656 genome.wustl.edu 37 22 37470651 37470651 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153609.2 -1 reviewed p.C489 0.835 97 0% 161 32.3% 0 - - - - HMMSmart_SM00192,superfamily_LDL receptor-like module TMPRSS6 164656 genome.wustl.edu 37 22 37499385 37499385 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153609.2 -1 reviewed p.E34* 0.921 70 0% 91 30.8% 0 - - - - NULL C1QTNF6 114904 genome.wustl.edu 37 22 37578411 37578411 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031910.3 -1 validated p.I218 1.000 76 0% 92 32.6% 19 0% - - - HMMPfam_C1q,superfamily_TNF_like CYTH4 27128 genome.wustl.edu 37 22 37690748 37690748 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013385.3 +1 reviewed p.F50 0.507 133 0% 299 32.1% 3 0% - - - NULL GGA1 26088 genome.wustl.edu 37 22 38014499 38014499 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013365.4 +1 reviewed p.D83 0.216 81 0% 104 29.8% 44 45.4% - - - HMMPfam_VHS,superfamily_ENTH/VHS domain,HMMSmart_SM00288 TRIOBP 11078 genome.wustl.edu 37 22 38119411 38119411 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001039141.2 +1 reviewed p.R283Q 0.000 192 0% 431 34.1% 2 100% benign(0.155) tolerated(0.65) neutral(0.017) NULL MICALL1 85377 genome.wustl.edu 37 22 38329085 38329085 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000454685 +1 known p.R334* 1.000 33 0% 61 36.1% 23 30.4% - - - NULL PICK1 9463 genome.wustl.edu 37 22 38470322 38470322 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001039583.1 +1 reviewed p.G281 0.529 30 0% 26 38.5% 46 39.1% - - - HMMPfam_Arfaptin BAIAP2L2 80115 genome.wustl.edu 37 22 38481380 38481380 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025045.4 -1 validated p.G506D 1.000 136 0% 242 33.9% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL BAIAP2L2 80115 genome.wustl.edu 37 22 38494163 38494163 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025045.4 -1 validated p.L124 0.276 49 0% 51 27.5% 2 100% - - - HMMPfam_IMD KDELR3 11015 genome.wustl.edu 37 22 38877408 38877408 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016657.1 +1 reviewed p.V181 0.996 164 0% 251 38.2% 12 8.3% - - - NULL TOMM22 56993 genome.wustl.edu 37 22 39078435 39078435 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020243.4 +1 reviewed p.Q75H 0.994 64 0% 80 23.7% 154 29.2% possibly_damaging(0.848) deleterious(0.02) deleterious(0.709) NULL JOSD1 9929 genome.wustl.edu 37 22 39085019 39085019 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014876.5 -1 validated p.R144* 1.000 83 0% 146 32.9% 28 21.4% - - - HMMPfam_Josephin APOBEC3F 200316 genome.wustl.edu 37 22 39448225 39448225 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145298.5 +1 validated p.F290L 0.817 133 0% 201 30.8% 2 0% probably_damaging(0.973) deleterious(0) deleterious(0.859) HMMPfam_APOBEC_N,superfamily_Cytidine deaminase-like MGAT3 4248 genome.wustl.edu 37 22 39884589 39884589 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001098270.1 +1 reviewed p.H413N 1.000 27 0% 34 35.3% 0 - probably_damaging(0.983) deleterious(0.02) deleterious(0.812) HMMPfam_Glyco_transf_17 SMCR7L 54471 genome.wustl.edu 37 22 39908488 39908488 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019008.4 +1 validated p.D192N 1.000 24 0% 22 27.3% 30 13.3% probably_damaging(0.996) tolerated(0.14) deleterious(0.711) NULL SMCR7L 54471 genome.wustl.edu 37 22 39910260 39910260 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019008.4 +1 validated p.E442* 1.000 99 1% 164 26.8% 13 46.1% - - - NULL CACNA1I 8911 genome.wustl.edu 37 22 40066842 40066842 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021096.3 +1 reviewed p.C1474 0.998 116 0.9% 153 28.8% 0 - - - - NULL ENTHD1 150350 genome.wustl.edu 37 22 40161495 40161495 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152512.3 -1 provisional p.E318* 0.156 95 0% 99 27.3% 0 - - - - NULL GRAP2 9402 genome.wustl.edu 37 22 40356158 40356158 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004810.2 +1 reviewed p.G90 0.987 105 0% 166 31.3% 0 - unknown(0) - - HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain GRAP2 9402 genome.wustl.edu 37 22 40364189 40364189 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004810.2 +1 reviewed p.Q201 0.260 43 0% 60 46.7% 0 - - - - superfamily_SH3-domain TNRC6B 23112 genome.wustl.edu 37 22 40676079 40676079 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015088.2 +1 validated p.R1062* 1.000 188 0% 257 33.9% 1 0% - - - NULL ADSL 158 genome.wustl.edu 37 22 40762493 40762493 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000026.2 +1 reviewed p.S474 0.105 175 0.6% 485 28.9% 111 39.6% - - - NULL SGSM3 27352 genome.wustl.edu 37 22 40800640 40800640 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015705.4 +1 validated p.S149F 1.000 44 0% 57 38.6% 56 46.4% probably_damaging(0.976) deleterious(0.02) deleterious(0.801) HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p SGSM3 27352 genome.wustl.edu 37 22 40803470 40803470 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015705.4 +1 validated p.Y474 0.953 13 0% 13 38.5% 64 50% - - - superfamily_SH3-domain SGSM3 27352 genome.wustl.edu 37 22 40805519 40805519 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015705.4 +1 validated p.A721V 0.000 117 0% 169 39.1% 113 37.1% benign(0) tolerated(0.65) neutral(0.003) NULL MCHR1 2847 genome.wustl.edu 37 22 41077326 41077326 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005297.3 +1 reviewed p.T221 0.994 106 0% 145 26.2% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like XPNPEP3 63929 genome.wustl.edu 37 22 41282427 41282427 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022098.2 +1 validated p.R234W 0.086 55 0% 102 29.4% 13 38.4% probably_damaging(0.974) deleterious(0.02) deleterious(0.799) superfamily_Creatinase/prolidase N-terminal domain EP300 2033 genome.wustl.edu 37 22 41533773 41533773 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001429.3 +1 reviewed p.R580Q 1.000 98 0% 194 34.5% 6 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_KIX,superfamily_KIX EP300 2033 genome.wustl.edu 37 22 41572404 41572404 + Nonsense_Mutation SNP C C T rs139310551 TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001429.3 +1 reviewed p.R1645* 0.995 52 0% 88 35.2% 12 33.3% - - - NULL EP300 2033 genome.wustl.edu 37 22 41573557 41573557 + Missense_Mutation SNP T T A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001429.3 +1 reviewed p.F1948I 0.997 78 0% 156 31.4% 32 28.1% unknown(0) tolerated(0.46) - NULL POLR3H 171568 genome.wustl.edu 37 22 41928714 41928714 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001018050.2 -1 validated p.D82Y 1.000 50 0% 130 31.5% 22 27.2% - - - HMMPfam_RNA_pol_Rbc25 SEPT3 55964 genome.wustl.edu 37 22 42388765 42388765 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145733.2 +1 reviewed p.E288G 1.000 129 0% 340 32.1% 0 - possibly_damaging(0.842) deleterious(0.01) deleterious(0.728) HMMPfam_Septin,superfamily_P-loop containing nucleoside triphosphate hydrolases FAM109B 150368 genome.wustl.edu 37 22 42473419 42473419 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001002034.2 +1 validated p.R41Q 0.997 37 0% 48 35.4% 3 0% benign(0.011) tolerated(1) neutral(0.001) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 FAM109B 150368 genome.wustl.edu 37 22 42474053 42474053 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001002034.2 +1 validated p.K252N 0.000 5 0.000 22 0.273 9 0% benign(0.007) tolerated(0.12) neutral(0.261) NULL TCF20 6942 genome.wustl.edu 37 22 42575644 42575644 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005650.1 -1 reviewed p.R1907Q 1.000 122 0% 196 32.7% 44 50% possibly_damaging(0.833) tolerated(0.11) deleterious(0.589) HMMSmart_SM00249 TCF20 6942 genome.wustl.edu 37 22 42608083 42608083 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005650.1 -1 reviewed p.A1077T 0.000 133 0% 261 29.9% 9 11.1% benign(0) tolerated(1) - NULL TCF20 6942 genome.wustl.edu 37 22 42609006 42609006 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005650.1 -1 reviewed p.S769Y 0.996 142 0.7% 235 30.6% 6 66.6% possibly_damaging(0.444) deleterious(0.03) deleterious(0.509) NULL A4GALT 53947 genome.wustl.edu 37 22 43089181 43089181 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017436.4 -1 reviewed p.K259N 1.000 27 0% 40 42.5% 140 35.7% probably_damaging(1) tolerated(0.09) deleterious(0.796) HMMPfam_Gb3_synth ARFGAP3 26286 genome.wustl.edu 37 22 43203104 43203104 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000453516 -1 known p.R265* 0.159 43 0% 33 45.5% 60 28.3% - - - NULL ARFGAP3 26286 genome.wustl.edu 37 22 43230255 43230255 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014570.4 -1 reviewed p.S157F 0.987 78 0% 190 34.7% 29 41.3% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL ARFGAP3 26286 genome.wustl.edu 37 22 43231425 43231425 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014570.4 -1 reviewed p.L112 0.539 278 0% 598 28.9% 40 40% - - - HMMPfam_ArfGap,HMMSmart_ArfGap,superfamily_ArfGAP TTLL12 23170 genome.wustl.edu 37 22 43575962 43575962 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015140.3 -1 validated p.F197 0.998 39 0% 64 40.6% 23 69.5% - - - NULL SCUBE1 80274 genome.wustl.edu 37 22 43606959 43606959 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173050.2 -1 validated p.F784 0.995 316 0% 565 36.5% 0 - - - - HMMPfam_GCC2_GCC3 MPPED1 758 genome.wustl.edu 37 22 43821179 43821179 + Missense_Mutation SNP T T A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001044370.1 +1 validated p.I63N 1.000 55 0% 86 39.5% 0 - probably_damaging(0.992) tolerated(0.05) deleterious(0.793) NULL MPPED1 758 genome.wustl.edu 37 22 43831116 43831116 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001044370.1 +1 validated p.K129N 1.000 49 0% 52 21.2% 0 - probably_damaging(0.969) tolerated(0.39) neutral(0.427) HMMPfam_Metallophos,superfamily_Metallo-dependent phosphatases EFCAB6 64800 genome.wustl.edu 37 22 44112839 44112839 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022785.2 -1 validated p.E257D 0.015 289 0.3% 334 29% 5 60% benign(0.066) tolerated(0.16) neutral(0.064) NULL EFCAB6 64800 genome.wustl.edu 37 22 44127686 44127686 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022785.2 -1 validated p.S217L 0.042 248 0% 335 30.7% 4 25% benign(0.001) tolerated(0.57) neutral(0.006) superfamily_EF-hand PARVG 64098 genome.wustl.edu 37 22 44585032 44585032 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001137605.1 +1 validated p.A96T 0.872 73 0% 65 38.5% 7 0% possibly_damaging(0.935) tolerated(1) neutral(0.381) HMMPfam_CH,superfamily_Calponin-homology domain CH-domain PARVG 64098 genome.wustl.edu 37 22 44592227 44592227 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001137605.1 +1 validated p.A215T 1.000 158 0% 224 30.8% 13 0% possibly_damaging(0.742) tolerated(0.37) neutral(0.291) HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain PARVG 64098 genome.wustl.edu 37 22 44594597 44594597 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001137605.1 +1 validated p.E270* 0.992 268 0% 450 35.6% 25 0% - - - HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain SMC1B 27127 genome.wustl.edu 37 22 45749965 45749965 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_148674.3 -1 validated p.E1056K 1.000 169 0% 294 33.7% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SMC_N,superfamily_SSF52540 SMC1B 27127 genome.wustl.edu 37 22 45785670 45785670 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_148674.3 -1 validated p.K551N 0.997 163 0% 261 34.5% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_SMC_N,HMMPfam_SMC_hinge,superfamily_SMC_hinge,superfamily_SSF52540 FBLN1 2192 genome.wustl.edu 37 22 45914660 45914660 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006486.2 +1 reviewed p.E60* 1.000 50 0% 84 38.1% 321 0.6% - - - HMMPfam_ANATO,HMMSmart_SM00104,PatternScan_ANAPHYLATOXIN_1 ATXN10 25814 genome.wustl.edu 37 22 46136386 46136386 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013236.3 +1 reviewed p.L381M 1.000 220 0% 230 27.4% 136 43.3% probably_damaging(1) tolerated(0.21) deleterious(0.544) superfamily_ARM-type_fold,HMMPfam_Atx10homo_assoc PPARA 5465 genome.wustl.edu 37 22 46627847 46627847 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001001928.2 +1 reviewed p.F290 0.948 57 0% 135 41.5% 1 0% - - - HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain PKDREJ 10343 genome.wustl.edu 37 22 46653300 46653300 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006071.1 -1 reviewed p.F1974L 0.032 80 0% 166 30.1% 0 - probably_damaging(0.996) tolerated(0.07) deleterious(0.780) HMMPfam_PKD_channel PKDREJ 10343 genome.wustl.edu 37 22 46654443 46654443 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006071.1 -1 reviewed p.F1593V 0.906 170 0% 324 29% 0 - possibly_damaging(0.949) deleterious(0.01) deleterious(0.798) NULL PKDREJ 10343 genome.wustl.edu 37 22 46657646 46657646 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006071.1 -1 reviewed p.F525C 0.976 31 0% 59 39% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_REJ CELSR1 9620 genome.wustl.edu 37 22 46787711 46787711 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014246.1 -1 reviewed p.E1989D 0.994 14 0% 34 38.2% 2 100% benign(0.067) tolerated(0.26) neutral(0.038) superfamily_Concanavalin A-like lectins/glucanases GRAMD4 23151 genome.wustl.edu 37 22 47073086 47073086 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015124.2 +1 validated p.E559K 1.000 112 0% 111 32.4% 4 0% possibly_damaging(0.455) tolerated(0.19) neutral(0.199) NULL CERK 64781 genome.wustl.edu 37 22 47095304 47095304 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022766.5 -1 validated p.Y283* 1.000 91 0% 253 30% 6 16.6% - - - NULL BRD1 23774 genome.wustl.edu 37 22 50216753 50216753 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014577.1 -1 reviewed p.E405K 0.811 116 0% 222 25.2% 9 11.1% possibly_damaging(0.741) tolerated(0.23) neutral(0.313) NULL ZBED4 9889 genome.wustl.edu 37 22 50280052 50280052 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014838.2 +1 validated p.V914 0.203 26 0% 79 40.5% 14 57.1% - - - NULL ZBED4 9889 genome.wustl.edu 37 22 50280475 50280475 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014838.2 +1 validated p.S1055 0.000 23 0% 34 41.2% 14 21.4% - - - NULL MLC1 23209 genome.wustl.edu 37 22 50523168 50523168 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015166.3 -1 reviewed p.S55Y 0.992 29 0% 48 20.8% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL MOV10L1 54456 genome.wustl.edu 37 22 50591491 50591491 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018995.2 +1 reviewed p.K970N 1.000 147 0% 263 36.1% 0 - benign(0.003) tolerated(0.17) neutral(0.059) superfamily_P-loop containing nucleoside triphosphate hydrolases MOV10L1 54456 genome.wustl.edu 37 22 50599252 50599252 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018995.2 +1 reviewed p.R1154* 0.922 235 0% 466 24.2% 2 0% - - - NULL PANX2 56666 genome.wustl.edu 37 22 50616107 50616107 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_052839.3 +1 reviewed p.F322 1.000 29 0% 50 50% 5 60% - - - NULL TUBGCP6 85378 genome.wustl.edu 37 22 50660064 50660064 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020461.3 -1 reviewed p.P908 0.000 24 0% 39 33.3% 5 40% - - - HMMPfam_Spc97_Spc98 TUBGCP6 85378 genome.wustl.edu 37 22 50662994 50662994 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020461.3 -1 reviewed p.E671* 1.000 131 0% 178 38.8% 10 30% - - - HMMPfam_Spc97_Spc98 SBF1 6305 genome.wustl.edu 37 22 50895492 50895492 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000337034 -1 known p.A1302V 1.000 29 0% 28 28.6% 36 58.3% benign(0) tolerated(0.56) neutral(0.006) superfamily_(Phosphotyrosine protein) phosphatases II SBF1 6305 genome.wustl.edu 37 22 50898532 50898532 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002972.2 -1 validated p.D1114N 1.000 66 1.5% 108 37% 60 58.3% possibly_damaging(0.68) deleterious(0.01) deleterious(0.648) superfamily_(Phosphotyrosine protein) phosphatases II TYMP 1890 genome.wustl.edu 37 22 50967988 50967988 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001113755.1 -1 reviewed p.E51K 0.290 26 0% 33 45.5% 35 0% possibly_damaging(0.679) tolerated(1) neutral(0.242) HMMPfam_Glycos_trans_3N,superfamily_Glyco_trans_3 SYCE3 644186 genome.wustl.edu 37 22 50994736 50994736 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001123225.1 -1 predicted p.E33D 1.000 315 0% 511 35.4% 0 - benign(0.035) deleterious(0) neutral(0.447) NULL CHKB 1120 genome.wustl.edu 37 22 51018642 51018642 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005198.4 -1 reviewed p.F265 0.691 125 0% 258 40.7% 42 40.4% - - - HMMPfam_Choline_kinase,superfamily_Protein kinase-like (PK-like) SHANK3 85358 genome.wustl.edu 37 22 51117213 51117213 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080420.1 +1 reviewed p.L155 0.139 59 0% 105 31.4% 1 0% - - - HMMPfam_Ank,superfamily_Ankyrin repeat SHANK3 85358 genome.wustl.edu 37 22 51150051 51150051 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001080420.1 +1 reviewed p.R723W 1.000 136 0% 153 32% 0 - probably_damaging(0.997) tolerated(0.18) deleterious(0.522) NULL ENSG00000210082 0 genome.wustl.edu 37 MT 1973 1973 + RNA SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000387347 +1 known NULL NULL 9 0.000 18 0.278 1319 22.2% - - - - PPP2R3B 28227 genome.wustl.edu 37 X 299561 299561 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013239.4 -1 reviewed p.I474 0.999 163 0% 291 31.3% 87 48.2% - - - superfamily_EF-hand CSF2RA 1438 genome.wustl.edu 37 X 1407431 1407431 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006140.4 +1 reviewed p.S80L 0.000 261 0% 555 31% 1 0% benign(0.252) tolerated(0.21) neutral(0.070) NULL CSF2RA 1438 genome.wustl.edu 37 X 1409342 1409342 + Nonsense_Mutation SNP G G T rs137852353 TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006140.4 +1 reviewed p.G196* 0.049 204 0% 311 23.8% 5 0% - - - superfamily_Fibronectin type III SLC25A6 293 genome.wustl.edu 37 X 1505534 1505534 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001636.3 -1 reviewed p.F286 0.996 174 0% 323 30.7% 1549 46.8% - - - superfamily_Mitochondrial carrier,HMMPfam_Mito_carr SLC25A6 293 genome.wustl.edu 37 X 1508278 1508278 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001636.3 -1 reviewed p.R152C 0.120 69 0% 150 26% 1781 44.8% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Mitochondrial carrier,HMMPfam_Mito_carr ASMT 438 genome.wustl.edu 37 X 1746604 1746604 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004043.2 +1 reviewed p.R128M 0.992 176 0% 426 36.6% 1 0% benign(0.184) tolerated(0.06) neutral(0.340) HMMPfam_Methyltransf_2,superfamily_SSF53335 XG 7499 genome.wustl.edu 37 X 2688602 2688602 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001141919.1 +1 reviewed p.F25V 0.027 360 0% 621 38.3% 0 - unknown(0) deleterious(0) - NULL GYG2 8908 genome.wustl.edu 37 X 2795286 2795286 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003918.2 +1 reviewed p.E428K 0.001 124 0% 228 30.7% 1 0% benign(0.055) tolerated(0.15) neutral(0.244) NULL ARSH 347527 genome.wustl.edu 37 X 2951077 2951077 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001011719.1 +1 validated p.A447V 0.137 85 0% 188 26.6% 0 - benign(0.001) tolerated(0.61) neutral(0.004) HMMPfam_Sulfatase,superfamily_Alkaline_phosphatase_core MXRA5 25878 genome.wustl.edu 37 X 3235955 3235955 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015419.3 -1 reviewed p.R1923* 0.894 66 0% 78 32.1% 6 0% - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin MXRA5 25878 genome.wustl.edu 37 X 3240544 3240544 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015419.3 -1 reviewed p.K1061T 0.000 263 0% 407 35.6% 1 0% benign(0.037) deleterious(0) neutral(0.447) NULL NLGN4X 57502 genome.wustl.edu 37 X 5811688 5811688 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020742.2 -1 reviewed p.P541S 1.000 255 0% 372 34.1% 0 - possibly_damaging(0.477) deleterious(0.03) deleterious(0.522) HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases STS 412 genome.wustl.edu 37 X 7177480 7177480 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000351.4 +1 reviewed p.S163Y 0.035 223 0% 241 29% 2 0% probably_damaging(0.968) deleterious(0) deleterious(0.855) HMMPfam_Sulfatase,superfamily_Alkaline_phosphatase_core STS 412 genome.wustl.edu 37 X 7268042 7268042 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000351.4 +1 reviewed p.D498N 0.805 180 0% 206 30.6% 1 100% benign(0.003) tolerated(0.2) neutral(0.049) HMMPfam_Sulfatase,superfamily_Alkaline_phosphatase_core PNPLA4 8228 genome.wustl.edu 37 X 7893992 7893992 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142389.1 -1 reviewed p.E57* 0.753 117 0% 171 32.2% 11 63.6% - - - HMMPfam_Patatin,superfamily_FabD/lysophospholipase-like LOC100288723 100288723 genome.wustl.edu 37 X 8138006 8138006 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002343806.1 +1 model p.F75 0.052 49 0% 97 35.1% 0 - - - - NULL FAM9A 171482 genome.wustl.edu 37 X 8763127 8763127 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_174951.3 -1 validated p.E275* 0.000 180 0% 246 22% 0 - - - - NULL FAM9A 171482 genome.wustl.edu 37 X 8763412 8763412 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_174951.3 -1 validated p.E180* 0.001 474 0% 612 29.1% 0 - - - - NULL FAM9A 171482 genome.wustl.edu 37 X 8768125 8768125 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_174951.3 -1 validated p.E30K 0.986 204 0% 192 33.3% 0 - benign(0.01) - - NULL TBL1X 6907 genome.wustl.edu 37 X 9656071 9656071 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001139466.1 +1 reviewed p.F124 0.924 104 0% 120 35.8% 7 0% - - - NULL TBL1X 6907 genome.wustl.edu 37 X 9661422 9661422 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001139466.1 +1 reviewed p.R339Q 1.000 275 0% 467 32.3% 4 0% benign(0.152) tolerated(0.09) neutral(0.310) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 GPR143 4935 genome.wustl.edu 37 X 9714097 9714097 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000273.2 -1 reviewed p.K235N 1.000 117 0% 152 27.6% 2 0% probably_damaging(0.98) tolerated(0.28) neutral(0.456) HMMPfam_Ocular_alb SHROOM2 357 genome.wustl.edu 37 X 9862976 9862976 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001649.2 +1 reviewed p.A343V 0.000 29 0% 32 34.4% 1 0% benign(0) tolerated(0.42) neutral(0.014) NULL SHROOM2 357 genome.wustl.edu 37 X 9907377 9907377 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001649.2 +1 reviewed p.D1428N 1.000 62 0% 95 32.6% 5 0% possibly_damaging(0.649) tolerated(0.22) neutral(0.270) HMMPfam_ASD2 WWC3 55841 genome.wustl.edu 37 X 10085339 10085339 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015691.3 +1 validated p.D414N 0.994 40 0% 37 32.4% 3 0% probably_damaging(0.981) deleterious(0) deleterious(0.870) NULL WWC3 55841 genome.wustl.edu 37 X 10109533 10109533 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015691.3 +1 validated p.D1091N 1.000 173 0% 273 33.7% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CLCN4 1183 genome.wustl.edu 37 X 10176190 10176190 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001830.3 +1 reviewed p.V317I 1.000 98 0% 135 34.1% 0 - possibly_damaging(0.865) deleterious(0.04) deleterious(0.684) HMMPfam_Voltage_CLC,superfamily_Clc chloride channel MID1 4281 genome.wustl.edu 37 X 10417743 10417743 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000381.2 -1 reviewed p.L557I 1.000 117 0% 142 37.3% 7 71.4% benign(0) tolerated(0.9) - HMMPfam_SPRY,HMMSmart_SM00449 MID1 4281 genome.wustl.edu 37 X 10427815 10427815 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000381.2 -1 reviewed p.V440L 1.000 126 0% 177 32.2% 2 0% benign(0.304) deleterious(0.02) deleterious(0.478) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III MID1 4281 genome.wustl.edu 37 X 10450529 10450529 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000381.2 -1 reviewed p.I335T 1.000 155 0% 167 26.3% 2 0% benign(0.248) deleterious(0) deleterious(0.470) HMMSmart_SM00502 ARHGAP6 395 genome.wustl.edu 37 X 11196220 11196220 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013427.2 -1 reviewed p.E543 1.000 186 0% 205 32.2% 3 0% - - - HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP ARHGAP6 395 genome.wustl.edu 37 X 11204429 11204429 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013427.2 -1 reviewed p.K400 1.000 193 0% 190 31.1% 3 0% - - - NULL ARHGAP6 395 genome.wustl.edu 37 X 11206927 11206927 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013427.2 -1 reviewed p.S333Y 1.000 359 0% 356 28.1% 2 0% probably_damaging(0.996) deleterious(0.04) deleterious(0.810) NULL ARHGAP6 395 genome.wustl.edu 37 X 11215106 11215106 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013427.2 -1 reviewed p.K253N 1.000 467 0% 431 32% 1 0% possibly_damaging(0.931) deleterious(0.01) deleterious(0.783) NULL ARHGAP6 395 genome.wustl.edu 37 X 11682616 11682616 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013427.2 -1 reviewed p.E111 0.977 71 0% 103 27.2% 0 - - - - NULL MSL3 10943 genome.wustl.edu 37 X 11781114 11781114 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_078629.2 +1 reviewed p.K249N 1.000 250 0% 337 30% 16 0% probably_damaging(0.998) tolerated(0.1) deleterious(0.761) HMMPfam_MRG MSL3 10943 genome.wustl.edu 37 X 11793134 11793134 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_078629.2 +1 reviewed p.E501A 1.000 151 0% 121 26.4% 36 88.8% probably_damaging(0.979) deleterious(0.03) deleterious(0.786) HMMPfam_MRG FRMPD4 9758 genome.wustl.edu 37 X 12734645 12734645 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014728.3 +1 reviewed p.Y689 0.841 80 0% 104 33.7% 0 - - - - NULL FRMPD4 9758 genome.wustl.edu 37 X 12736417 12736417 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014728.3 +1 reviewed p.S1158P 0.977 89 0% 128 27.3% 0 - possibly_damaging(0.8) tolerated(0.08) deleterious(0.601) NULL TLR7 51284 genome.wustl.edu 37 X 12903909 12903909 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016562.3 +1 reviewed p.I94 0.167 142 0% 171 25.1% 0 - - - - superfamily_L domain-like TLR7 51284 genome.wustl.edu 37 X 12904019 12904019 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016562.3 +1 reviewed p.S131F 1.000 63 0% 55 25.5% 0 - possibly_damaging(0.922) deleterious(0.01) deleterious(0.777) HMMSmart_SM00369,HMMSmart_SM00365,superfamily_L domain-like TLR7 51284 genome.wustl.edu 37 X 12904869 12904869 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016562.3 +1 reviewed p.L414 0.848 33 0% 42 38.1% 0 - - - - HMMSmart_SM00369,HMMSmart_SM00365,superfamily_L domain-like TLR8 51311 genome.wustl.edu 37 X 12939565 12939565 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138636.4 +1 reviewed p.I802M 0.000 221 0% 189 28.6% 0 - benign(0.171) tolerated(0.06) neutral(0.338) HMMSmart_LRRCT OFD1 8481 genome.wustl.edu 37 X 13786877 13786877 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003611.2 +1 reviewed p.T990M 0.020 204 0.5% 263 32.7% 51 23.5% unknown(0) tolerated(1) - NULL GPM6B 2824 genome.wustl.edu 37 X 13801510 13801510 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001001995.1 -1 reviewed p.A167T 0.998 156 0% 252 34.1% 4 0% benign(0.001) tolerated(0.67) neutral(0.003) HMMPfam_Myelin_PLP GLRA2 2742 genome.wustl.edu 37 X 14550433 14550433 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001118885.1 +1 reviewed p.F47L 1.000 226 0% 169 29% 0 - benign(0.178) tolerated(0.19) neutral(0.066) HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like GLRA2 2742 genome.wustl.edu 37 X 14748577 14748577 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001118885.1 +1 reviewed p.I443 1.000 176 0% 207 32.4% 0 - - - - superfamily_Neurotransmitter-gated ion-channel transmembrane pore FANCB 2187 genome.wustl.edu 37 X 14862650 14862650 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001018113.1 -1 reviewed p.E714K 1.000 54 0% 47 23.4% 0 - possibly_damaging(0.5) deleterious(0.05) deleterious(0.512) NULL FANCB 2187 genome.wustl.edu 37 X 14877446 14877446 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001018113.1 -1 reviewed p.K321T 0.005 150 0% 158 26.6% 1 0% probably_damaging(0.961) tolerated(0.18) neutral(0.460) NULL MOSPD2 158747 genome.wustl.edu 37 X 14929461 14929461 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152581.3 +1 validated p.E269* 1.000 192 0% 212 34% 4 0% - - - superfamily_CRAL/TRIO domain ASB11 140456 genome.wustl.edu 37 X 15311417 15311417 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_080873.1 -1 reviewed p.A132V 1.000 61 0% 126 35.7% 0 - benign(0.001) tolerated(0.43) neutral(0.013) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK ASB11 140456 genome.wustl.edu 37 X 15333571 15333571 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_080873.1 -1 reviewed p.E53* 1.000 147 0% 115 42.6% 0 - - - - superfamily_ANK PIGA 5277 genome.wustl.edu 37 X 15349660 15349660 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002641.2 -1 reviewed p.F131 1.000 193 0% 367 37.6% 2 100% - - - HMMPfam_PIGA,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase BMX 660 genome.wustl.edu 37 X 15540559 15540559 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001721.6 +1 reviewed p.N201H 0.011 204 0% 159 36.5% 0 - benign(0.003) tolerated(0.11) neutral(0.272) NULL TMEM27 57393 genome.wustl.edu 37 X 15677192 15677192 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020665.4 -1 reviewed p.F50L 1.000 237 0% 272 27.9% 1 100% benign(0.008) deleterious(0) neutral(0.445) NULL CA5B 11238 genome.wustl.edu 37 X 15782766 15782766 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007220.3 +1 reviewed p.R70W 1.000 149 0% 237 19% 3 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Carb_anhydrase,superfamily_Carbonic anhydrase ZRSR2 8233 genome.wustl.edu 37 X 15809114 15809114 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005089.3 +1 reviewed p.E33 0.991 99 0% 235 25.5% 7 14.2% - - - NULL AP1S2 8905 genome.wustl.edu 37 X 15870612 15870612 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000452376 -1 known p.A9T 1.000 297 0% 496 32.1% 3 0% - - - HMMPfam_Clat_adaptor_s,superfamily_SNARE-like CTPS2 56474 genome.wustl.edu 37 X 16717107 16717107 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001144002.1 -1 reviewed p.K92N 1.000 161 0% 265 34.3% 9 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_CTP_synth_N,superfamily_P-loop containing nucleoside triphosphate hydrolases RBBP7 5931 genome.wustl.edu 37 X 16887335 16887335 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002893.3 -1 reviewed p.D9Y 1.000 85 0% 175 23.4% 40 50% possibly_damaging(0.946) deleterious(0) deleterious(0.835) NULL NHS 4810 genome.wustl.edu 37 X 17742544 17742544 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198270.2 +1 reviewed p.E391* 1.000 218 0% 376 31.9% 1 100% - - - NULL NHS 4810 genome.wustl.edu 37 X 17743589 17743589 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198270.2 +1 reviewed p.L434M 1.000 169 0% 262 37% 2 0% probably_damaging(0.99) tolerated(0.19) deleterious(0.491) NULL NHS 4810 genome.wustl.edu 37 X 17743916 17743916 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198270.2 +1 reviewed p.A543T 0.996 69 0% 73 19.2% 1 100% benign(0) tolerated(0.26) neutral(0.034) NULL NHS 4810 genome.wustl.edu 37 X 17750027 17750027 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198270.2 +1 reviewed p.R1446* 0.913 114 0% 140 35.7% 4 0% - - - NULL SCML1 6322 genome.wustl.edu 37 X 17764185 17764185 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001037540.1 +1 validated p.L55 0.000 195 0% 229 26.2% 1 0% - - - NULL RAI2 10742 genome.wustl.edu 37 X 17819663 17819663 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021785.4 -1 reviewed p.F156 1.000 69 0% 106 34.9% 2 50% - - - NULL BEND2 139105 genome.wustl.edu 37 X 18192281 18192281 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153346.4 -1 validated p.S617Y 0.020 209 0% 243 32.9% 0 - possibly_damaging(0.952) deleterious(0) deleterious(0.840) NULL BEND2 139105 genome.wustl.edu 37 X 18192350 18192350 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153346.4 -1 validated p.T594I 0.001 177 0% 179 29.6% 0 - possibly_damaging(0.952) tolerated(0.13) deleterious(0.648) NULL SCML2 10389 genome.wustl.edu 37 X 18264783 18264783 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006089.2 -1 validated p.G579D 0.003 199 0% 252 35.3% 1 0% probably_damaging(1) tolerated(0.26) deleterious(0.534) NULL SCML2 10389 genome.wustl.edu 37 X 18264944 18264944 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000420857 -1 known p.N41S 0.657 49 0% 61 37.7% 1 0% - - - NULL CDKL5 6792 genome.wustl.edu 37 X 18593495 18593495 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001037343.1 +1 reviewed p.T56M 1.000 273 0% 255 27.8% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase RS1 6247 genome.wustl.edu 37 X 18674831 18674831 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000330.3 -1 reviewed p.C42 0.997 79 0% 123 37.4% 0 - - - - NULL PPEF1 5475 genome.wustl.edu 37 X 18748330 18748330 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006240.2 +1 reviewed p.W26* 1.000 152 0% 279 31.9% 0 - - - - HMMPfam_IQ,HMMSmart_SM00015 PPEF1 5475 genome.wustl.edu 37 X 18767978 18767978 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006240.2 +1 reviewed p.D102Y 0.034 151 0% 217 30.9% 0 - probably_damaging(0.961) deleterious(0.01) deleterious(0.810) HMMPfam_PPP5,superfamily_Metallo-dependent phosphatases PDHA1 5160 genome.wustl.edu 37 X 19369512 19369512 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000284.3 +1 reviewed p.L135 0.471 112 0% 141 31.9% 58 0% - - - HMMPfam_E1_dh,superfamily_Thiamin diphosphate-binding fold (THDP-binding) PDHA1 5160 genome.wustl.edu 37 X 19377050 19377050 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000284.3 +1 reviewed p.E306* 1.000 154 0% 400 28% 146 0% - - - HMMPfam_E1_dh,superfamily_Thiamin diphosphate-binding fold (THDP-binding) MAP3K15 389840 genome.wustl.edu 37 X 19392701 19392701 + Silent SNP G G A rs185966397 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001001671.3 -1 validated p.F364 1.000 176 0% 298 36.2% 0 - - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase CXorf23 256643 genome.wustl.edu 37 X 19947910 19947910 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198279.3 -1 validated p.K671T 1.000 68 0% 100 34% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL MAP7D2 256714 genome.wustl.edu 37 X 20060710 20060710 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152780.3 -1 validated p.S265Y 0.034 109 0% 111 36% 0 - unknown(0) deleterious(0.04) - NULL RPS6KA3 6197 genome.wustl.edu 37 X 20185793 20185793 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004586.2 -1 reviewed p.L506I 1.000 220 0% 294 28.9% 1 0% probably_damaging(0.988) tolerated(0.21) deleterious(0.481) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase RPS6KA3 6197 genome.wustl.edu 37 X 20204442 20204442 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004586.2 -1 reviewed p.R273* 1.000 275 0% 362 23.2% 5 0% - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase CNKSR2 22866 genome.wustl.edu 37 X 21393035 21393035 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014927.3 +1 reviewed p.P7L 0.986 92 0% 132 29.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SAM/Pointed domain CNKSR2 22866 genome.wustl.edu 37 X 21550085 21550085 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014927.3 +1 reviewed p.K401N 1.000 155 0% 55 30.9% 0 - benign(0.177) tolerated(0.05) neutral(0.362) HMMPfam_DUF1170 CNKSR2 22866 genome.wustl.edu 37 X 21627418 21627418 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014927.3 +1 reviewed p.S792F 0.998 158 0% 123 33.3% 0 - possibly_damaging(0.91) deleterious(0) deleterious(0.807) NULL SMS 6611 genome.wustl.edu 37 X 22002476 22002476 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004595.2 +1 reviewed p.E269K 1.000 207 0% 304 27% 80 0% benign(0) tolerated(1) - HMMPfam_Spermine_synth,superfamily_S-adenosyl-L-methionine-dependent methyltransferases PHEX 5251 genome.wustl.edu 37 X 22095808 22095808 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000444.4 +1 reviewed p.E217 0.995 139 0% 158 32.9% 0 - - - - HMMPfam_Peptidase_M13_N,superfamily_SSF55486 PHEX 5251 genome.wustl.edu 37 X 22129611 22129611 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000444.4 +1 reviewed p.R369I 1.000 283 0% 434 33.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Peptidase_M13_N,superfamily_SSF55486 ZNF645 158506 genome.wustl.edu 37 X 22291957 22291957 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152577.2 +1 provisional p.A283 0.000 140 0% 181 35.4% 0 - - - - NULL DDX53 168400 genome.wustl.edu 37 X 23018618 23018618 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182699.2 +1 validated p.E148D 0.007 210 0% 306 28.8% 0 - benign(0) tolerated(0.46) neutral(0.012) superfamily_SSF52540 DDX53 168400 genome.wustl.edu 37 X 23018991 23018991 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182699.2 +1 validated p.T273A 0.926 109 0% 144 25% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_DEAD,HMMSmart_DEXDc,superfamily_SSF52540 LOC653707 653707 genome.wustl.edu 37 X 23216638 23216638 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002343798.1 +1 model p.F61 0.300 292 0% 340 39.7% 0 - - - - NULL PTCHD1 139411 genome.wustl.edu 37 X 23397827 23397827 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173495.2 +1 validated p.L157 1.000 121 0% 143 33.6% 0 - - - - HMMPfam_Patched PTCHD1 139411 genome.wustl.edu 37 X 23411466 23411466 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173495.2 +1 validated p.D611Y 1.000 80 0% 68 42.6% 0 - possibly_damaging(0.68) deleterious(0.01) deleterious(0.648) HMMPfam_Patched PTCHD1 139411 genome.wustl.edu 37 X 23412226 23412226 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173495.2 +1 validated p.N864S 1.000 103 0% 101 29.7% 0 - benign(0.075) deleterious(0.03) neutral(0.369) NULL CXorf58 254158 genome.wustl.edu 37 X 23934380 23934380 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152761.2 +1 validated p.L120I 0.822 240 0% 372 29.3% 0 - benign(0.418) tolerated(0.58) neutral(0.141) NULL KLHL15 80311 genome.wustl.edu 37 X 24007103 24007103 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030624.2 -1 reviewed p.Y250 0.997 45 0% 53 26.4% 2 50% - - - NULL ZFX 7543 genome.wustl.edu 37 X 24228434 24228434 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003410.3 +1 reviewed p.K453N 1.000 228 0% 443 35% 6 50% benign(0.003) tolerated(0.22) neutral(0.042) superfamily_C2H2 and C2HC zinc fingers FAM48B1 100130302 genome.wustl.edu 37 X 24381222 24381222 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001136234.1 +1 inferred p.Y115* 1.000 316 0% 499 23.2% 0 - - - - NULL FAM48B1 100130302 genome.wustl.edu 37 X 24381235 24381235 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001136234.1 +1 inferred p.E120* 1.000 310 0% 507 23.1% 0 - - - - NULL PDK3 5165 genome.wustl.edu 37 X 24521502 24521502 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142386.2 +1 reviewed p.A127T 1.000 238 0.4% 372 28.5% 6 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_BCDHK_Adom3,superfamily_SSF69012 POLA1 5422 genome.wustl.edu 37 X 24859883 24859883 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016937.3 +1 reviewed p.R1278I 1.000 397 0% 364 38.7% 12 83.3% benign(0.204) tolerated(0.06) neutral(0.342) HMMPfam_zf-DNA_Pol LOC389842 389842 genome.wustl.edu 37 X 25663998 25663998 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_372200.7 -1 model p.Q149H 1.000 86 0% 141 29.8% 127 0% - - - HMMPfam_Ran_BP1,HMMSmart_SM00160,superfamily_PH domain-like LOC389842 389842 genome.wustl.edu 37 X 25664350 25664350 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_372200.7 -1 model p.S32F 1.000 67 0% 80 33.8% 0 - - - - HMMSmart_SM00160,superfamily_PH domain-like MAGEB18 286514 genome.wustl.edu 37 X 26157753 26157753 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173699.3 +1 validated p.E217 0.002 101 0% 161 35.4% 0 - - - - HMMPfam_MAGE MAGEB6 158809 genome.wustl.edu 37 X 26212236 26212236 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173523.2 +1 reviewed p.E91D 0.000 188 0% 217 30% 1 0% possibly_damaging(0.653) tolerated(0.12) deleterious(0.490) NULL DCAF8L2 347442 genome.wustl.edu 37 X 27766253 27766253 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001136533.1 +1 provisional p.H414R 1.000 229 0% 389 30.8% 0 - - - - HMMSmart_SM00320,superfamily_WD40 repeat-like DCAF8L2 347442 genome.wustl.edu 37 X 27766549 27766549 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001136533.1 +1 provisional p.E513* 0.022 193 0% 281 31.7% 0 - - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 DCAF8L2 347442 genome.wustl.edu 37 X 27766759 27766759 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001136533.1 +1 provisional p.L583F 1.000 101 0% 154 26.6% 0 - - - - NULL DCAF8L2 347442 genome.wustl.edu 37 X 27766886 27766886 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001136533.1 +1 provisional p.R625Q 0.000 50 0% 43 44.2% 0 - - - - NULL MAGEB10 139422 genome.wustl.edu 37 X 27839676 27839676 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182506.3 +1 reviewed p.G85* 0.000 114 0% 131 32.8% 0 - - - - NULL MAGEB10 139422 genome.wustl.edu 37 X 27839758 27839758 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182506.3 +1 reviewed p.D112G 0.008 120 0% 137 29.2% 0 - benign(0.003) tolerated(0.1) neutral(0.286) NULL MAGEB10 139422 genome.wustl.edu 37 X 27840281 27840281 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182506.3 +1 reviewed p.M286I 0.853 206 0% 224 31.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MAGE DCAF8L1 139425 genome.wustl.edu 37 X 27997948 27997948 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001017930.1 -1 reviewed p.D502Y 0.249 185 0% 194 29.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 DCAF8L1 139425 genome.wustl.edu 37 X 27998711 27998711 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001017930.1 -1 reviewed p.F247L 1.000 89 0% 105 34.3% 0 - probably_damaging(0.987) deleterious(0.02) deleterious(0.820) HMMSmart_WD40,superfamily_WD40_like DCAF8L1 139425 genome.wustl.edu 37 X 27999214 27999214 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001017930.1 -1 reviewed p.E80K 0.514 347 0% 454 33.3% 0 - benign(0) deleterious(0.02) neutral(0.383) NULL IL1RAPL1 11141 genome.wustl.edu 37 X 29301120 29301120 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014271.3 +1 reviewed p.R50* 1.000 359 0% 382 33.2% 0 - - - - HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin IL1RAPL1 11141 genome.wustl.edu 37 X 29938065 29938065 + Splice_Site SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014271.3 +1 reviewed e7-1 1.000 443 0% 677 30% 0 - - - - - MAGEB2 4113 genome.wustl.edu 37 X 30237366 30237366 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002364.4 +1 reviewed p.I223 0.130 187 0% 297 29.3% 0 - - - - HMMPfam_MAGE MAGEB4 4115 genome.wustl.edu 37 X 30260594 30260594 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002367.3 +1 reviewed p.K114N 0.000 72 0% 116 37.9% 0 - benign(0.221) tolerated(0.49) neutral(0.033) NULL MAGEB1 4112 genome.wustl.edu 37 X 30269041 30269041 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002363.4 +1 reviewed p.D144G 0.000 94 0% 141 37.6% 0 - benign(0) tolerated(0.16) neutral(0.059) HMMPfam_MAGE NR0B1 190 genome.wustl.edu 37 X 30326388 30326388 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000475.4 -1 reviewed p.L365I 1.000 83 0% 128 26.6% 0 - probably_damaging(0.979) deleterious(0.03) deleterious(0.786) HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain CXorf21 80231 genome.wustl.edu 37 X 30578162 30578162 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025159.2 -1 validated p.R104I 0.782 118 0% 160 30.6% 0 - possibly_damaging(0.545) deleterious(0.01) deleterious(0.591) NULL GK 2710 genome.wustl.edu 37 X 30714241 30714241 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001128127.1 +1 reviewed p.S212Y 1.000 256 0% 393 26.7% 1 0% benign(0.403) deleterious(0) deleterious(0.574) HMMPfam_FGGY_N,superfamily_SSF53067 GK 2710 genome.wustl.edu 37 X 30738819 30738819 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001128127.1 +1 reviewed p.L434I 1.000 216 0% 314 35.7% 2 0% probably_damaging(0.992) deleterious(0.02) deleterious(0.831) HMMPfam_FGGY_C,superfamily_SSF53067 TAB3 257397 genome.wustl.edu 37 X 30849648 30849648 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152787.3 -1 reviewed p.D679N 1.000 249 0% 327 26% 3 0% possibly_damaging(0.928) deleterious(0.04) deleterious(0.724) NULL TAB3 257397 genome.wustl.edu 37 X 30873103 30873103 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152787.3 -1 reviewed p.P227T 1.000 192 0% 229 31% 3 0% probably_damaging(0.996) tolerated(0.4) deleterious(0.478) NULL DMD 1756 genome.wustl.edu 37 X 31144820 31144820 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000465285 -1 known p.S1400R 0.925 142 0% 105 24.8% 0 - benign(0.106) tolerated(0.06) neutral(0.331) NULL DMD 1756 genome.wustl.edu 37 X 31164466 31164466 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000465285 -1 known p.R1350* 1.000 135 0% 147 24.5% 1 0% - - - NULL DMD 1756 genome.wustl.edu 37 X 31224765 31224765 + Frame_Shift_Del DEL G G - novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004006.2 -1 reviewed p.R3195fs 1.000 - - - - - - - - - HMMPfam_efhand_1,superfamily_EF-hand DMD 1756 genome.wustl.edu 37 X 31227737 31227737 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000465285 -1 known p.P876T 1.000 193 0% 265 30.2% 1 0% - - - HMMPfam_efhand_1,superfamily_EF-hand DMD 1756 genome.wustl.edu 37 X 31792263 31792263 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000465285 -1 known p.G181* 1.000 146 0% 144 28.5% 0 - probably_damaging(0.983) tolerated(0.14) deleterious(0.678) NULL DMD 1756 genome.wustl.edu 37 X 31893303 31893303 + Splice_Site SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004006.2 -1 reviewed e48+2 0.986 228 0% 163 30.7% 0 - - - - - DMD 1756 genome.wustl.edu 37 X 32328197 32328197 + Splice_Site SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004006.2 -1 reviewed e42+2 1.000 124 0% 78 24.4% 0 - - - - - DMD 1756 genome.wustl.edu 37 X 32328373 32328373 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004006.2 -1 reviewed p.T1981 0.970 198 0% 117 32.5% 0 - - - - NULL DMD 1756 genome.wustl.edu 37 X 32380921 32380921 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004006.2 -1 reviewed p.R1770I 1.000 306 0% 369 35% 1 0% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat DMD 1756 genome.wustl.edu 37 X 32398787 32398787 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004006.2 -1 reviewed p.R1562I 1.000 278 0% 177 32.2% 1 100% benign(0.317) tolerated(0.06) neutral(0.421) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat DMD 1756 genome.wustl.edu 37 X 32456383 32456383 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004006.2 -1 reviewed p.S1349Y 1.000 300 0% 248 33.1% 1 0% possibly_damaging(0.654) deleterious(0.01) deleterious(0.636) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat DMD 1756 genome.wustl.edu 37 X 32486814 32486814 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004006.2 -1 reviewed p.S988Y 1.000 156 0% 138 30.4% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat DMD 1756 genome.wustl.edu 37 X 32563314 32563314 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004006.2 -1 reviewed p.K710N 1.000 451 0.2% 369 33.3% 2 50% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_Spectrin repeat DMD 1756 genome.wustl.edu 37 X 32613950 32613950 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004006.2 -1 reviewed p.S509Y 1.000 375 0% 347 34.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat DMD 1756 genome.wustl.edu 37 X 32834697 32834697 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004006.2 -1 reviewed p.L140I 1.000 406 0.2% 386 26.7% 0 - probably_damaging(0.995) deleterious(0.02) deleterious(0.841) HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain FAM47A 158724 genome.wustl.edu 37 X 34148781 34148781 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_203408.3 -1 validated p.R539* 0.002 123 0% 109 37.6% 0 - - - - NULL FAM47B 170062 genome.wustl.edu 37 X 34962330 34962330 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152631.2 +1 validated p.R461K 0.002 233 0% 454 37.2% 0 - benign(0.117) tolerated(0.56) neutral(0.016) NULL FAM47B 170062 genome.wustl.edu 37 X 34962649 34962649 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152631.2 +1 validated p.L567F 0.508 172 0% 256 32% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL FAM47B 170062 genome.wustl.edu 37 X 34962875 34962875 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152631.2 +1 validated p.K643Q 0.001 67 0% 104 19.2% 0 - benign(0.072) tolerated(0.23) neutral(0.046) NULL CXorf22 170063 genome.wustl.edu 37 X 35944257 35944257 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152632.3 +1 validated p.N125H 0.101 118 0% 113 39.8% 0 - possibly_damaging(0.442) tolerated(0.11) neutral(0.416) NULL CXorf22 170063 genome.wustl.edu 37 X 35988963 35988963 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152632.3 +1 validated p.K631N 0.000 125 0% 103 31.1% 0 - benign(0.001) tolerated(0.12) neutral(0.261) NULL CXorf59 286464 genome.wustl.edu 37 X 36103568 36103568 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173695.2 +1 validated p.N185T 0.000 139 0% 130 33.8% 0 - benign(0.017) tolerated(0.52) neutral(0.009) NULL CXorf30 645090 genome.wustl.edu 37 X 36322013 36322013 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001098843.3 +1 validated p.K120Q 0.982 236 0% 212 34.4% 0 - benign(0.039) tolerated(0.6) neutral(0.006) NULL CXorf30 645090 genome.wustl.edu 37 X 36371715 36371715 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001098843.3 +1 validated p.G370R 0.000 247 0.4% 256 30.5% 0 - probably_damaging(1) tolerated(0.47) deleterious(0.511) NULL CXorf30 645090 genome.wustl.edu 37 X 36403121 36403121 + Nonstop_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001098843.3 +1 validated p.*634Y 0.997 89 0% 94 52.1% 0 - - - - NULL FAM47C 442444 genome.wustl.edu 37 X 37026638 37026638 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001013736.2 +1 validated p.T52M 0.000 209 0% 213 39% 0 - probably_damaging(0.998) tolerated(0.06) deleterious(0.797) NULL FAM47C 442444 genome.wustl.edu 37 X 37028454 37028454 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001013736.2 +1 validated p.E657D 0.000 156 0% 126 25.4% 0 - probably_damaging(0.973) tolerated(0.42) neutral(0.429) NULL FAM47C 442444 genome.wustl.edu 37 X 37028992 37028992 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001013736.2 +1 validated p.E837* 0.020 178 0% 277 31% 0 - - - - NULL FAM47C 442444 genome.wustl.edu 37 X 37029400 37029400 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001013736.2 +1 validated p.L973I 0.005 246 0% 307 29% 0 - probably_damaging(0.998) tolerated(0.19) deleterious(0.524) NULL CXorf27 25763 genome.wustl.edu 37 X 37850249 37850249 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012274.1 +1 validated p.L53F 0.000 146 0% 264 24.2% 0 - probably_damaging(0.989) deleterious(0) deleterious(0.884) superfamily_Histone-fold SYTL5 94122 genome.wustl.edu 37 X 37931347 37931347 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138780.2 +1 reviewed p.K126T 1.000 427 0% 359 29.8% 0 - probably_damaging(0.998) tolerated(0.11) deleterious(0.746) HMMPfam_RPH3A_effector,superfamily_FYVE_PHD_ZnF SYTL5 94122 genome.wustl.edu 37 X 37955396 37955396 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138780.2 +1 reviewed p.R324Q 0.998 229 0% 156 30.8% 0 - benign(0.077) tolerated(0.09) neutral(0.302) NULL RPGR 6103 genome.wustl.edu 37 X 38145402 38145402 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001034853.1 -1 reviewed p.E950D 0.000 9 0.000 22 0.227 0 - unknown(0) tolerated(0.48) - NULL RPGR 6103 genome.wustl.edu 37 X 38147249 38147249 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001034853.1 -1 reviewed p.E540* 0.043 434 0% 591 28.4% 6 0% - - - NULL RPGR 6103 genome.wustl.edu 37 X 38176606 38176606 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001034853.1 -1 reviewed p.W194C 1.000 197 0% 210 27.1% 4 0% benign(0.205) deleterious(0.01) neutral(0.426) HMMPfam_RCC1,superfamily_RCC1/BLIP-II CXorf38 159013 genome.wustl.edu 37 X 40498357 40498357 + Silent SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144970.2 -1 validated p.A125 0.785 182 0% 319 34.2% 2 0% - - - NULL MED14 9282 genome.wustl.edu 37 X 40518692 40518692 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004229.3 -1 reviewed p.F1284L 1.000 403 0.2% 573 31.9% 23 17.3% possibly_damaging(0.942) deleterious(0.01) deleterious(0.792) NULL MED14 9282 genome.wustl.edu 37 X 40518847 40518847 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004229.3 -1 reviewed p.N1233H 1.000 269 0% 439 34.6% 18 5.5% probably_damaging(0.981) deleterious(0.03) deleterious(0.790) NULL USP9X 8239 genome.wustl.edu 37 X 41025143 41025143 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001039590.2 +1 reviewed p.G668 0.997 146 0% 241 26.6% 5 0% - - - NULL USP9X 8239 genome.wustl.edu 37 X 41043261 41043261 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001039590.2 +1 reviewed p.T1053 1.000 294 0% 396 35.1% 2 100% - - - NULL CASK 8573 genome.wustl.edu 37 X 41437686 41437686 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003688.3 -1 reviewed p.G470 0.994 209 0% 333 36.3% 14 71.4% - - - NULL GPR82 27197 genome.wustl.edu 37 X 41587144 41587144 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_080817.4 +1 validated p.E289* 1.000 98 0% 82 24.4% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like CASK 8573 genome.wustl.edu 37 X 41712418 41712418 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003688.3 -1 reviewed p.K41T 1.000 174 0% 310 31.6% 4 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase MAOA 4128 genome.wustl.edu 37 X 43571956 43571956 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000240.2 +1 reviewed p.P139L 0.995 217 0% 195 39.5% 6 0% possibly_damaging(0.842) deleterious(0) deleterious(0.766) HMMPfam_Amino_oxidase,superfamily_FAD/NAD(P)-binding domain EFHC2 80258 genome.wustl.edu 37 X 44091865 44091865 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025184.3 -1 validated p.S494Y 0.811 235 0% 203 31.5% 3 0% - - - NULL EFHC2 80258 genome.wustl.edu 37 X 44108076 44108076 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025184.3 -1 validated p.R315Q 0.000 215 0% 278 31.7% 2 0% - - - NULL EFHC2 80258 genome.wustl.edu 37 X 44120403 44120403 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_025184.3 -1 validated p.E175* 0.995 89 0% 91 31.9% 0 - probably_damaging(0.974) deleterious(0.02) deleterious(0.799) NULL KDM6A 7403 genome.wustl.edu 37 X 44870210 44870210 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021140.2 +1 reviewed p.A130D 1.000 311 0% 518 31.3% 1 0% probably_damaging(0.996) deleterious(0.02) deleterious(0.845) HMMPfam_TPR_1,HMMSmart_TPR,superfamily_SSF48452 KDM6A 7403 genome.wustl.edu 37 X 44945216 44945216 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021140.2 +1 reviewed p.F1180L 1.000 436 0% 537 29.1% 9 22.2% benign(0.045) tolerated(0.81) neutral(0.003) HMMSmart_JmjC,HMMPfam_JmjC ZNF674 641339 genome.wustl.edu 37 X 46360259 46360259 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001039891.2 -1 validated p.C255 0.009 207 0% 257 23% 10 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF674 641339 genome.wustl.edu 37 X 46388270 46388270 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001039891.2 -1 validated p.K30N 0.976 217 0% 255 31.8% 2 0% probably_damaging(0.958) deleterious(0.01) deleterious(0.807) HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box SLC9A7 84679 genome.wustl.edu 37 X 46466614 46466614 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032591.1 -1 reviewed p.D651Y 1.000 78 0% 114 33.3% 5 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL RP2 6102 genome.wustl.edu 37 X 46696581 46696581 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006915.2 +1 reviewed p.R16W 0.990 49 0% 79 27.8% 11 0% benign(0) deleterious(0.02) neutral(0.383) NULL RP2 6102 genome.wustl.edu 37 X 46719461 46719461 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006915.2 +1 reviewed p.E269D 1.000 173 0% 299 28.4% 6 0% possibly_damaging(0.78) tolerated(0.1) deleterious(0.578) superfamily_NDK RGN 9104 genome.wustl.edu 37 X 46940548 46940548 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004683.4 +1 reviewed p.S2Y 1.000 301 0% 613 30.8% 0 - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) superfamily_Calcium-dependent phosphotriesterase RBM10 8241 genome.wustl.edu 37 X 47041363 47041363 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005676.3 +1 reviewed p.V569 0.916 175 0% 352 25% 61 0% - - - NULL RBM10 8241 genome.wustl.edu 37 X 47044502 47044502 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005676.3 +1 reviewed p.E667* 1.000 77 0% 159 28.9% 86 0% - - - NULL CDK16 5127 genome.wustl.edu 37 X 47082953 47082953 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033018.3 +1 reviewed p.I5 1.000 124 0% 211 34.6% 25 96% - - - NULL ZNF157 7712 genome.wustl.edu 37 X 47272757 47272757 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003446.3 +1 reviewed p.L429I 0.401 145 0% 220 27.3% 0 - benign(0.181) deleterious(0) neutral(0.461) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF157 7712 genome.wustl.edu 37 X 47272941 47272941 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003446.3 +1 reviewed p.R490I 0.995 79 0% 155 40.6% 0 - benign(0.198) deleterious(0.03) neutral(0.384) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF41 7592 genome.wustl.edu 37 X 47307439 47307439 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007130.2 -1 reviewed p.R577I 0.969 170 0% 272 31.2% 2 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) superfamily_C2H2 and C2HC zinc fingers ZNF41 7592 genome.wustl.edu 37 X 47307516 47307516 + Nonsense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007130.2 -1 reviewed p.Y551* 0.846 237 0% 361 26.6% 4 0% - - - HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ARAF 369 genome.wustl.edu 37 X 47428974 47428974 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001654.3 +1 reviewed p.G446D 1.000 122 0% 153 31.4% 67 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Kinase_like,HMMPfam_Pkinase ZNF81 347344 genome.wustl.edu 37 X 47774361 47774361 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007137.3 +1 reviewed p.S106P 0.001 43 0% 28 35.7% 2 0% benign(0.038) tolerated(0.3) neutral(0.030) NULL ZNF182 7569 genome.wustl.edu 37 X 47835763 47835763 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006962.1 -1 reviewed p.C575R 0.995 330 0% 346 31.2% 6 100% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF182 7569 genome.wustl.edu 37 X 47835969 47835969 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006962.1 -1 reviewed p.R506I 1.000 238 0% 246 34.6% 3 66.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF182 7569 genome.wustl.edu 37 X 47837174 47837174 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006962.1 -1 reviewed p.Q104H 0.992 90 0% 90 32.2% 2 0% possibly_damaging(0.528) tolerated(0.13) neutral(0.430) NULL ZNF630 57232 genome.wustl.edu 37 X 47918295 47918295 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001037735.2 -1 validated p.E512D 1.000 158 0% 226 35% 3 0% possibly_damaging(0.542) deleterious(0.02) deleterious(0.567) superfamily_SSF57667 SSX6 280657 genome.wustl.edu 37 X 47976513 47976513 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000304314 +1 known p.K191N 0.001 254 0% 444 32.9% 0 - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL SSX1 6756 genome.wustl.edu 37 X 48118066 48118066 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005635.2 +1 reviewed p.V94I 0.018 358 0% 612 30.1% 0 - possibly_damaging(0.798) tolerated(0.71) neutral(0.302) NULL SSX9 280660 genome.wustl.edu 37 X 48156310 48156310 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000376909 -1 known p.R171I 0.002 361 0% 607 19.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SSXRD SSX3 10214 genome.wustl.edu 37 X 48209546 48209546 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021014.2 -1 reviewed p.K114N 0.004 388 0% 647 32% 0 - possibly_damaging(0.772) deleterious(0.01) deleterious(0.693) NULL SSX3 10214 genome.wustl.edu 37 X 48211595 48211595 + Nonsense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000376895 -1 known p.Y2* 0.000 308 0% 466 29.4% 0 - - - - NULL SSX4 6759 genome.wustl.edu 37 X 48244008 48244008 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005636.3 +1 reviewed p.F25 0.004 110 0% 258 16.3% 0 - - - - HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box SSX4 6759 genome.wustl.edu 37 X 48244833 48244833 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005636.3 +1 reviewed p.R75Q 0.000 594 0.2% 1100 14.5% 0 - probably_damaging(0.963) tolerated(0.11) deleterious(0.677) HMMSmart_KRAB,superfamily_Krueppel-associated_box SSX4B 548313 genome.wustl.edu 37 X 48270229 48270229 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001034832.2 -1 reviewed p.Y50H 0.054 600 0% 968 16% 0 - probably_damaging(1) tolerated(0.31) deleterious(0.527) HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box SSX4B 548313 genome.wustl.edu 37 X 48270302 48270302 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001034832.2 -1 reviewed p.F25 0.001 439 0% 631 12.4% 0 - - - - HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box WDR13 64743 genome.wustl.edu 37 X 48458814 48458814 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017883.4 +1 reviewed p.R211C 0.995 19 0% 47 38.3% 151 1.3% benign(0) tolerated(0.18) neutral(0.056) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 SUV39H1 6839 genome.wustl.edu 37 X 48565905 48565905 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003173.2 +1 reviewed p.R395W 1.000 91 0% 105 32.4% 3 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_SET domain HDAC6 10013 genome.wustl.edu 37 X 48674023 48674023 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006044.2 +1 reviewed p.P433L 0.619 296 0% 589 36.5% 12 0% possibly_damaging(0.937) deleterious(0.01) deleterious(0.788) superfamily_SSF52768 HDAC6 10013 genome.wustl.edu 37 X 48681420 48681420 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006044.2 +1 reviewed p.E871* 0.000 83 0% 165 23% 29 0% - - - NULL ERAS 3266 genome.wustl.edu 37 X 48687550 48687550 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_181532.2 +1 provisional p.K6T 0.001 36 0% 39 43.6% 0 - benign(0.135) deleterious(0) neutral(0.456) NULL TIMM17B 10245 genome.wustl.edu 37 X 48752378 48752378 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005834.3 -1 reviewed p.R45W 0.260 129 0% 236 33.1% 118 1.6% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMPfam_Tim17 SLC35A2 7355 genome.wustl.edu 37 X 48762045 48762045 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005660.1 -1 provisional p.I381V 0.885 74 0% 134 33.6% 55 81.8% unknown(0) tolerated(0.23) - NULL PIM2 11040 genome.wustl.edu 37 X 48776111 48776111 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006875.3 -1 reviewed p.M1V 1.000 27 0% 28 17.9% 7 0% benign(0.001) deleterious(0) neutral(0.445) NULL GRIPAP1 56850 genome.wustl.edu 37 X 48831684 48831684 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020137.3 -1 reviewed p.G772 1.000 57 0% 53 26.4% 63 0% - - - NULL GRIPAP1 56850 genome.wustl.edu 37 X 48844550 48844550 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020137.3 -1 reviewed p.R311W 1.000 98 0% 99 36.4% 33 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL PRICKLE3 4007 genome.wustl.edu 37 X 49032195 49032195 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006150.3 -1 reviewed p.D559N 1.000 67 0% 130 35.4% 25 0% benign(0.007) deleterious(0) neutral(0.445) NULL PRICKLE3 4007 genome.wustl.edu 37 X 49034343 49034343 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000453382 -1 known p.R331W 0.202 38 0% 37 32.4% 14 92.8% - - - HMMPfam_LIM,HMMSmart_SM00132,superfamily_Glucocorticoid receptor-like (DNA-binding domain) PRICKLE3 4007 genome.wustl.edu 37 X 49040322 49040322 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000453382 -1 known p.R72C 0.001 45 0% 57 22.8% 8 0% - - - NULL SYP 6855 genome.wustl.edu 37 X 49049761 49049761 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003179.2 -1 reviewed p.D195Y 1.000 172 0% 235 31.5% 8 0% probably_damaging(0.98) tolerated(1) neutral(0.424) HMMPfam_MARVEL CACNA1F 778 genome.wustl.edu 37 X 49065678 49065678 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000486943 -1 known p.Y87C 0.004 301 0% 430 37.2% 0 - unknown(0) - - NULL CACNA1F 778 genome.wustl.edu 37 X 49067543 49067543 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005183.2 -1 reviewed p.L1435I 1.000 92 0% 170 30.6% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CACNA1F 778 genome.wustl.edu 37 X 49088171 49088171 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005183.2 -1 reviewed p.R82* 0.997 106 0% 137 32.1% 0 - - - - superfamily_Voltage-gated potassium channels CCDC22 28952 genome.wustl.edu 37 X 49099751 49099751 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014008.3 +1 validated p.E179D 0.947 39 0% 51 29.4% 23 0% possibly_damaging(0.459) tolerated(0.21) neutral(0.195) HMMPfam_DUF812 CCDC22 28952 genome.wustl.edu 37 X 49106139 49106139 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014008.3 +1 validated p.E575K 1.000 66 0% 79 32.9% 46 84.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF812 PPP1R3F 89801 genome.wustl.edu 37 X 49143300 49143300 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033215.4 +1 reviewed p.L716 0.000 64 0% 105 32.4% 0 - - - - NULL PAGE4 9506 genome.wustl.edu 37 X 49595684 49595684 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007003.2 +1 reviewed p.E55K 0.001 183 0% 290 33.8% 4 25% possibly_damaging(0.763) - - HMMPfam_GAGE PAGE4 9506 genome.wustl.edu 37 X 49597195 49597195 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007003.2 +1 reviewed p.G78 0.000 173 0% 252 34.1% 3 0% - - - HMMPfam_GAGE USP27X 389856 genome.wustl.edu 37 X 49644959 49644959 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145073.1 +1 provisional p.E17* 1.000 81 0% 162 36.4% 2 0% - - - NULL AKAP4 8852 genome.wustl.edu 37 X 49958460 49958460 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003886.2 -1 reviewed p.L302I 0.943 104 0% 89 24.7% 0 - benign(0.244) tolerated(0.21) neutral(0.069) HMMPfam_AKAP_110,HMMSmart_SM00807 CCNB3 85417 genome.wustl.edu 37 X 50051905 50051905 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033031.2 +1 reviewed p.E246* 0.000 90 0% 63 36.5% 0 - - - - NULL CCNB3 85417 genome.wustl.edu 37 X 50053330 50053330 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033031.2 +1 reviewed p.E721* 0.001 42 0% 27 40.7% 0 - - - - NULL CCNB3 85417 genome.wustl.edu 37 X 50053393 50053393 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033031.2 +1 reviewed p.N742H 0.001 36 0% 30 36.7% 0 - possibly_damaging(0.923) deleterious(0.02) deleterious(0.756) NULL CCNB3 85417 genome.wustl.edu 37 X 50053926 50053926 + Silent SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033031.2 +1 reviewed p.S919 0.000 173 0% 156 34% 0 - - - - NULL CCNB3 85417 genome.wustl.edu 37 X 50054196 50054196 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033031.2 +1 reviewed p.F1009 0.000 166 0.6% 157 33.1% 1 100% - - - NULL SHROOM4 57477 genome.wustl.edu 37 X 50341324 50341324 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020717.3 -1 reviewed p.R1385Q 1.000 155 0% 210 29% 3 0% probably_damaging(0.997) deleterious(0.02) deleterious(0.849) HMMPfam_ASD2 GSPT2 23708 genome.wustl.edu 37 X 51487067 51487067 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018094.4 +1 reviewed p.E115D 0.981 61 0% 86 37.2% 2 0% benign(0) tolerated(0.37) neutral(0.019) NULL GSPT2 23708 genome.wustl.edu 37 X 51487680 51487680 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018094.4 +1 reviewed p.E320K 1.000 390 0.3% 587 34.6% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GTP_EFTU,superfamily_SSF52540 GSPT2 23708 genome.wustl.edu 37 X 51488603 51488603 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018094.4 +1 reviewed p.K627 0.989 146 0% 168 36.9% 1 0% - - - NULL MAGED1 9500 genome.wustl.edu 37 X 51640956 51640956 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005333.1 +1 reviewed p.P600 0.875 185 0% 268 32.5% 384 0% - - - HMMPfam_MAGE MAGED1 9500 genome.wustl.edu 37 X 51644761 51644761 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001005333.1 +1 reviewed p.R747I 0.992 173 0% 219 34.7% 526 79.2% unknown(0) deleterious(0) - NULL TSPYL2 64061 genome.wustl.edu 37 X 53114483 53114483 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022117.3 +1 reviewed p.K406N 1.000 313 0.3% 751 26.5% 25 0% probably_damaging(0.98) deleterious(0.01) deleterious(0.830) NULL TSPYL2 64061 genome.wustl.edu 37 X 53115256 53115256 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022117.3 +1 reviewed p.S561N 1.000 344 0% 838 31.5% 67 0% benign(0.204) deleterious(0.01) neutral(0.425) NULL KDM5C 8242 genome.wustl.edu 37 X 53228018 53228018 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004187.3 -1 reviewed p.R766W 1.000 148 0% 238 28.6% 58 20.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL IQSEC2 23096 genome.wustl.edu 37 X 53272619 53272619 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001111125.1 -1 validated p.L928 0.993 72 0% 103 35% 0 - - - - HMMPfam_Sec7,HMMSmart_Sec7,superfamily_Sec7 SMC1A 8243 genome.wustl.edu 37 X 53426535 53426535 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006306.2 -1 reviewed p.E846 0.996 617 0.2% 1103 30.5% 15 26.6% - - - HMMPfam_SMC_N,superfamily_SSF52540 HUWE1 10075 genome.wustl.edu 37 X 53565805 53565805 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031407.4 -1 reviewed p.R3957C 1.000 93 0% 189 34.4% 102 0% unknown(0) deleterious(0) - NULL HUWE1 10075 genome.wustl.edu 37 X 53574656 53574656 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000427052 -1 known p.D2572N 0.056 203 0% 367 36.8% 69 0% - - - NULL HUWE1 10075 genome.wustl.edu 37 X 53585965 53585965 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031407.4 -1 reviewed p.L2658I 1.000 119 0% 181 27.6% 30 0% possibly_damaging(0.615) deleterious(0) deleterious(0.658) NULL HUWE1 10075 genome.wustl.edu 37 X 53611182 53611182 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031407.4 -1 reviewed p.E1709* 1.000 570 0% 818 30.4% 12 0% - - - superfamily_ARM repeat HUWE1 10075 genome.wustl.edu 37 X 53615346 53615346 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031407.4 -1 reviewed p.F1537C 1.000 159 0% 180 32.2% 18 83.3% benign(0.022) tolerated(0.09) neutral(0.297) superfamily_ARM repeat HUWE1 10075 genome.wustl.edu 37 X 53615460 53615460 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000427052 -1 known p.C532* 1.000 176 0% 182 30.8% 13 92.3% probably_damaging(0.979) tolerated(0.22) neutral(0.464) superfamily_ARM repeat HUWE1 10075 genome.wustl.edu 37 X 53618076 53618076 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031407.4 -1 reviewed p.D1327Y 1.000 320 0% 390 27.9% 9 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UBA,superfamily_UBA-like,HMMSmart_SM00165,superfamily_ARM repeat HUWE1 10075 genome.wustl.edu 37 X 53674407 53674407 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031407.4 -1 reviewed p.E85D 0.997 188 0% 216 27.8% 2 0% benign(0) tolerated(0.27) neutral(0.034) NULL LOC100288560 100288560 genome.wustl.edu 37 X 53852694 53852694 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002344197.1 +1 model p.E105* 0.977 153 0% 196 28.6% 6 0% - - - HMMPfam_Ribosomal_S18,superfamily_Ribosomal protein S18 PHF8 23133 genome.wustl.edu 37 X 53965596 53965596 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015107.2 -1 reviewed p.L1024M 0.999 181 0% 318 35.8% 39 97.4% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL PHF8 23133 genome.wustl.edu 37 X 53966754 53966754 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015107.2 -1 reviewed p.L949I 1.000 212 0% 416 24.8% 51 0% probably_damaging(0.991) tolerated(0.24) deleterious(0.481) NULL PHF8 23133 genome.wustl.edu 37 X 54012332 54012332 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000375193 -1 known p.L157S 1.000 351 0% 642 29.8% 35 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PHF8 23133 genome.wustl.edu 37 X 54044223 54044223 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015107.2 -1 reviewed p.N109H 1.000 82 0% 175 30.9% 10 0% benign(0) tolerated(0.12) neutral(0.261) superfamily_Clavaminate synthase-like FAM120C 54954 genome.wustl.edu 37 X 54160249 54160249 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017848.4 -1 validated p.R616Q 0.999 83 0% 167 33.5% 1 0% benign(0.356) tolerated(0.53) neutral(0.120) NULL WNK3 65267 genome.wustl.edu 37 X 54264822 54264822 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020922.4 -1 reviewed p.N1323H 0.005 171 0% 275 31.3% 2 0% benign(0.313) deleterious(0) deleterious(0.542) NULL WNK3 65267 genome.wustl.edu 37 X 54278072 54278072 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020922.4 -1 reviewed p.E806* 1.000 191 0% 245 32.7% 0 - - - - superfamily_Kinase_like WNK3 65267 genome.wustl.edu 37 X 54321005 54321005 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020922.4 -1 reviewed p.Q558 0.842 114 0% 158 33.5% 2 0% - - - superfamily_Kinase_like WNK3 65267 genome.wustl.edu 37 X 54335576 54335576 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020922.4 -1 reviewed p.L295I 1.000 153 0% 281 33.8% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase WNK3 65267 genome.wustl.edu 37 X 54335691 54335691 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020922.4 -1 reviewed p.Q256H 1.000 130 0% 221 37.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase WNK3 65267 genome.wustl.edu 37 X 54337627 54337627 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020922.4 -1 reviewed p.S212Y 1.000 253 0% 364 30.2% 0 - possibly_damaging(0.899) tolerated(0.24) neutral(0.393) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase FGD1 2245 genome.wustl.edu 37 X 54472809 54472809 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004463.2 -1 reviewed p.F873 1.000 60 0% 74 31.1% 32 87.5% - - - HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 FGD1 2245 genome.wustl.edu 37 X 54491944 54491944 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004463.2 -1 reviewed p.L526I 1.000 60 0% 84 34.5% 18 0% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_DH-domain FGD1 2245 genome.wustl.edu 37 X 54496662 54496662 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004463.2 -1 reviewed p.E296D 1.000 98 0% 79 39.2% 20 0% unknown(0) tolerated(0.24) - NULL FGD1 2245 genome.wustl.edu 37 X 54497869 54497869 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004463.2 -1 reviewed p.G120V 1.000 172 0% 258 43.8% 9 77.7% unknown(0) deleterious(0) - NULL ITIH6 347365 genome.wustl.edu 37 X 54777592 54777592 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198510.2 -1 reviewed p.A1192T 0.036 115 0% 186 37.6% 1 100% probably_damaging(0.98) tolerated(0.35) neutral(0.445) HMMPfam_ITI_HC_C ITIH6 347365 genome.wustl.edu 37 X 54780097 54780097 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198510.2 -1 reviewed p.E1113 0.217 307 0% 395 26.8% 0 - - - - NULL ITIH6 347365 genome.wustl.edu 37 X 54784919 54784919 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198510.2 -1 reviewed p.L530I 0.055 37 0% 29 41.4% 0 - possibly_damaging(0.827) tolerated(0.27) neutral(0.348) NULL ITIH6 347365 genome.wustl.edu 37 X 54823437 54823437 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198510.2 -1 reviewed p.E65 0.039 143 0% 258 34.1% 0 - - - - HMMSmart_VIT,HMMPfam_VIT MAGED2 10916 genome.wustl.edu 37 X 54837536 54837536 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014599.4 +1 reviewed p.R274W 0.032 148 0% 191 28.3% 50 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL MAGED2 10916 genome.wustl.edu 37 X 54838030 54838030 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014599.4 +1 reviewed p.E312* 1.000 98 0% 207 30.9% 40 7.5% - - - HMMPfam_MAGE TRO 7216 genome.wustl.edu 37 X 54949730 54949730 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001039705.1 +1 reviewed p.K255N 0.828 94 0% 178 31.5% 1 0% benign(0.004) deleterious(0.04) neutral(0.349) NULL TRO 7216 genome.wustl.edu 37 X 54951445 54951445 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001039705.1 +1 reviewed p.E477* 1.000 173 0% 254 29.9% 1 0% - - - HMMPfam_MAGE PFKFB1 5207 genome.wustl.edu 37 X 54978349 54978349 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002625.2 -1 reviewed p.R279C 0.994 115 0% 195 31.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PGAM,superfamily_SSF53254 MAGEH1 28986 genome.wustl.edu 37 X 55479290 55479290 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014061.3 +1 reviewed p.F161L 0.807 144 0% 205 34.1% 45 51.1% possibly_damaging(0.612) tolerated(0.1) deleterious(0.498) HMMPfam_MAGE UBQLN2 29978 genome.wustl.edu 37 X 56590436 56590436 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013444.3 +1 reviewed p.E44* 1.000 25 0% 38 36.8% 6 0% - - - HMMPfam_ubiquitin,HMMSmart_SM00213,superfamily_Ubiquitin-like UBQLN2 29978 genome.wustl.edu 37 X 56590893 56590893 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013444.3 +1 reviewed p.S196L 1.000 87 0% 144 29.9% 14 0% probably_damaging(0.959) deleterious(0) deleterious(0.847) HMMSmart_SM00727 SPIN3 169981 genome.wustl.edu 37 X 57020624 57020624 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001010862.2 -1 validated p.D253N 1.000 146 0% 224 28.6% 2 100% benign(0.021) tolerated(0.21) neutral(0.045) HMMPfam_Spin-Ssty SPIN3 169981 genome.wustl.edu 37 X 57021234 57021234 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001010862.2 -1 validated p.I49 0.999 180 0% 288 32.6% 9 0% - - - NULL SPIN2B 474343 genome.wustl.edu 37 X 57146945 57146945 + Nonsense_Mutation SNP G G A rs4266782 byCluster TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001006681.1 -1 validated p.R40* 0.521 176 0% 274 36.5% 10 80% - - - NULL FAAH2 158584 genome.wustl.edu 37 X 57367770 57367770 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_174912.3 +1 reviewed p.S230I 1.000 333 0% 248 34.7% 7 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Amidase,superfamily_Amidase signature (AS) enzymes,PatternScan_AMIDASES ZXDA 7789 genome.wustl.edu 37 X 57935742 57935742 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007156.4 -1 reviewed p.T371 0.961 198 0% 240 38.3% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 FAM123B 139285 genome.wustl.edu 37 X 63411550 63411550 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152424.3 -1 reviewed p.F539L 1.000 97 0% 151 33.1% 0 - probably_damaging(0.971) tolerated(0.12) deleterious(0.673) HMMPfam_WTX FAM123B 139285 genome.wustl.edu 37 X 63412711 63412711 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152424.3 -1 reviewed p.E152D 0.060 76 0% 103 39.8% 0 - possibly_damaging(0.891) tolerated(0.17) neutral(0.409) HMMPfam_WTX ASB12 142689 genome.wustl.edu 37 X 63444995 63444995 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_130388.2 -1 reviewed p.A170D 0.998 140 0% 136 41.2% 0 - possibly_damaging(0.937) deleterious(0.02) deleterious(0.766) superfamily_ANK MTMR8 55613 genome.wustl.edu 37 X 63556009 63556009 + Splice_Site SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017677.3 -1 reviewed e10-1 1.000 206 0% 165 24.2% 0 - - - - - ZC4H2 55906 genome.wustl.edu 37 X 64137684 64137684 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000447788 -1 known p.R157Q 0.712 221 0% 354 29.4% 6 66.6% unknown(0) tolerated(0.36) - HMMPfam_zf-C4H2 ZC3H12B 340554 genome.wustl.edu 37 X 64708825 64708825 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001010888.3 +1 reviewed p.Q37H 0.027 86 0% 166 30.1% 0 - benign(0.404) deleterious(0.01) deleterious(0.536) NULL ZC3H12B 340554 genome.wustl.edu 37 X 64717033 64717033 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001010888.3 +1 reviewed p.F199L 1.000 158 0% 151 26.5% 0 - possibly_damaging(0.928) deleterious(0.02) deleterious(0.758) NULL ZC3H12B 340554 genome.wustl.edu 37 X 64718964 64718964 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001010888.3 +1 reviewed p.C267 1.000 129 0% 210 35.7% 0 - - - - NULL MSN 4478 genome.wustl.edu 37 X 64949523 64949523 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002444.2 +1 reviewed p.K139T 1.000 96 0% 161 27.3% 16 0% benign(0.003) tolerated(0.22) neutral(0.042) HMMPfam_FERM_M,superfamily_FERM_3-hlx,HMMSmart_B41 LOC100129585 100129585 genome.wustl.edu 37 X 65176315 65176315 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_001721365.2 -1 model p.E28K 1.000 131 0% 166 28.9% 0 - - - - NULL HEPH 9843 genome.wustl.edu 37 X 65393449 65393449 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138737.3 +1 reviewed p.G147D 0.995 201 0% 167 32.9% 3 0% probably_damaging(0.999) deleterious(0.05) deleterious(0.836) superfamily_Cupredoxins HEPH 9843 genome.wustl.edu 37 X 65414964 65414964 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138737.3 +1 reviewed p.G468D 1.000 251 0% 232 34.9% 5 0% probably_damaging(1) deleterious(0.03) deleterious(0.865) superfamily_Cupredoxins,HMMPfam_Cu-oxidase_3 HEPH 9843 genome.wustl.edu 37 X 65418735 65418735 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138737.3 +1 reviewed p.E580* 1.000 279 0% 395 29.9% 3 0% - - - superfamily_Cupredoxins HEPH 9843 genome.wustl.edu 37 X 65476110 65476110 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138737.3 +1 reviewed p.S948Y 0.000 267 0% 225 27.6% 17 0% benign(0.133) deleterious(0.03) neutral(0.376) superfamily_Cupredoxins HEPH 9843 genome.wustl.edu 37 X 65478771 65478771 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138737.3 +1 reviewed p.D999Y 1.000 101 0% 77 29.9% 15 0% probably_damaging(0.991) deleterious(0.01) deleterious(0.850) superfamily_Cupredoxins,HMMPfam_Cu-oxidase_2 AR 367 genome.wustl.edu 37 X 66765654 66765654 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000044.2 +1 reviewed p.K222N 1.000 102 0% 122 29.5% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Androgen_recep OPHN1 4983 genome.wustl.edu 37 X 67339157 67339157 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002547.2 -1 reviewed p.D432Y 1.000 107 0% 86 33.7% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_RhoGAP,HMMSmart_RhoGAP,superfamily_Rho_GAP OPHN1 4983 genome.wustl.edu 37 X 67518844 67518844 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002547.2 -1 reviewed p.I83 0.986 155 0% 207 29.5% 0 - - - - NULL YIPF6 286451 genome.wustl.edu 37 X 67731786 67731786 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173834.2 +1 provisional p.S51 0.955 238 0% 372 33.9% 16 0% - - - NULL YIPF6 286451 genome.wustl.edu 37 X 67733197 67733197 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173834.2 +1 provisional p.K72T 1.000 219 0% 384 34.9% 15 86.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Yip1 STARD8 9754 genome.wustl.edu 37 X 67938344 67938344 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142503.2 +1 reviewed p.E530K 0.878 79 0% 109 33% 0 - benign(0.087) deleterious(0.02) neutral(0.390) NULL EDA 1896 genome.wustl.edu 37 X 69247722 69247722 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001399.4 +1 reviewed p.P181L 1.000 43 0% 40 17.5% 0 - unknown(0) tolerated(0.1) - HMMPfam_Collagen AWAT2 158835 genome.wustl.edu 37 X 69263093 69263093 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001002254.1 -1 reviewed p.G158E 0.997 96 0% 150 27.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DAGAT IGBP1 3476 genome.wustl.edu 37 X 69354500 69354500 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001551.2 +1 reviewed p.R106* 1.000 140 0% 259 32% 60 0% - - - HMMPfam_TAP42 DGAT2L6 347516 genome.wustl.edu 37 X 69420292 69420292 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198512.1 +1 provisional p.E152A 0.996 288 0% 423 28.6% 0 - possibly_damaging(0.919) deleterious(0.01) deleterious(0.775) HMMPfam_DAGAT AWAT1 158833 genome.wustl.edu 37 X 69454574 69454574 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001013579.2 +1 reviewed p.F10S 0.140 131 0% 190 35.8% 0 - benign(0.001) deleterious(0) neutral(0.445) NULL AWAT1 158833 genome.wustl.edu 37 X 69460101 69460101 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001013579.2 +1 reviewed p.H316 0.528 196 0% 273 28.9% 0 - - - - HMMPfam_DAGAT KIF4A 24137 genome.wustl.edu 37 X 69550152 69550152 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012310.4 +1 reviewed p.Q347H 1.000 162 0% 175 33.7% 8 0% benign(0) tolerated(0.49) neutral(0.011) superfamily_P-loop containing nucleoside triphosphate hydrolases KIF4A 24137 genome.wustl.edu 37 X 69639577 69639577 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012310.4 +1 reviewed p.E1147K 1.000 164 0% 258 34.1% 20 100% benign(0.286) tolerated(0.06) neutral(0.410) NULL GDPD2 54857 genome.wustl.edu 37 X 69646233 69646233 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017711.3 +1 reviewed p.L126F 0.002 190 0% 268 31.3% 0 - benign(0) tolerated(0.1) neutral(0.286) NULL GDPD2 54857 genome.wustl.edu 37 X 69647034 69647034 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017711.3 +1 reviewed p.C250 1.000 120 0% 196 36.2% 0 - - - - HMMPfam_GDPD,superfamily_PLC-like_Pdiesterase_TIM-brl GDPD2 54857 genome.wustl.edu 37 X 69649445 69649445 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017711.3 +1 reviewed p.A347T 0.000 139 0% 181 32% 0 - benign(0) tolerated(0.54) neutral(0.007) HMMPfam_GDPD,superfamily_PLC-like_Pdiesterase_TIM-brl DLG3 1741 genome.wustl.edu 37 X 69699019 69699019 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021120.3 +1 reviewed p.S475 0.774 173 0% 301 32.9% 14 100% - - - superfamily_PDZ domain-like DLG3 1741 genome.wustl.edu 37 X 69715299 69715299 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021120.3 +1 reviewed p.N605 1.000 346 0% 596 30.2% 0 - - - - superfamily_SH3-domain DLG3 1741 genome.wustl.edu 37 X 69719067 69719067 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021120.3 +1 reviewed p.D638Y 1.000 197 0% 245 25.7% 24 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SH3-domain,HMMSmart_SM00072,superfamily_P-loop containing nucleoside triphosphate hydrolases TEX11 56159 genome.wustl.edu 37 X 69826813 69826813 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001003811.1 -1 reviewed p.Y664C 0.951 143 0% 219 32% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL TEX11 56159 genome.wustl.edu 37 X 69849512 69849512 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001003811.1 -1 reviewed p.E534 0.000 297 0% 353 34.6% 0 - - - - NULL TEX11 56159 genome.wustl.edu 37 X 69871302 69871302 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001003811.1 -1 reviewed p.R509I 0.031 83 0% 68 25% 0 - probably_damaging(0.992) deleterious(0.03) deleterious(0.812) superfamily_TPR-like TEX11 56159 genome.wustl.edu 37 X 69871346 69871346 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001003811.1 -1 reviewed p.Q494 0.178 98 1% 85 35.3% 0 - - - - superfamily_TPR-like TEX11 56159 genome.wustl.edu 37 X 70073121 70073121 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001003811.1 -1 reviewed p.E143* 0.977 148 0% 227 26% 0 - - - - superfamily_TPR-like FOXO4 4303 genome.wustl.edu 37 X 70316418 70316418 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005938.3 +1 reviewed p.A14T 0.999 49 0% 74 35.1% 16 0% probably_damaging(0.996) tolerated(0.1) deleterious(0.748) NULL FOXO4 4303 genome.wustl.edu 37 X 70321052 70321052 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005938.3 +1 reviewed p.L324 0.998 27 0% 62 38.7% 13 69.2% - - - NULL CXorf65 158830 genome.wustl.edu 37 X 70324245 70324245 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001025265.2 -1 validated p.R110H 0.227 80 0% 101 35.6% 2 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL IL2RG 3561 genome.wustl.edu 37 X 70329214 70329214 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000482750 -1 known p.V12I 0.007 132 0% 233 26.6% 15 0% - - - superfamily_Fibronectin type III IL2RG 3561 genome.wustl.edu 37 X 70330089 70330089 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000206.2 -1 reviewed p.E171* 0.998 254 0% 433 29.3% 14 0% - - - HMMSmart_FN3,superfamily_FN_III-like ZMYM3 9203 genome.wustl.edu 37 X 70473082 70473082 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005096.3 -1 reviewed p.S8 0.998 90 0% 146 31.5% 6 0% - - - NULL NONO 4841 genome.wustl.edu 37 X 70511778 70511778 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145408.1 +1 reviewed p.E102K 1.000 176 0% 299 35.5% 140 85% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD TAF1 6872 genome.wustl.edu 37 X 70601698 70601698 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004606.3 +1 reviewed p.A509V 1.000 237 0% 359 27.6% 4 0% benign(0.103) tolerated(0.1) neutral(0.294) NULL TAF1 6872 genome.wustl.edu 37 X 70607173 70607173 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004606.3 +1 reviewed p.F783L 1.000 361 0% 747 33.5% 5 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL TAF1 6872 genome.wustl.edu 37 X 70618466 70618466 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004606.3 +1 reviewed p.R1242Q 1.000 198 0% 556 24.8% 12 75% probably_damaging(0.995) deleterious(0.03) deleterious(0.822) NULL CXCR3 2833 genome.wustl.edu 37 X 70836483 70836483 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001504.1 -1 reviewed p.L280P 0.994 30 0% 44 36.4% 6 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like CXCR3 2833 genome.wustl.edu 37 X 70837169 70837169 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001504.1 -1 reviewed p.F51 0.505 100 0% 156 37.8% 3 0% - - - superfamily_Family A G protein-coupled receptor-like NHSL2 340527 genome.wustl.edu 37 X 71359483 71359483 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001013627.2 +1 provisional p.E329 0.899 80 0% 94 30.9% 0 - - - - NULL NHSL2 340527 genome.wustl.edu 37 X 71359565 71359565 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001013627.2 +1 provisional p.T357A 1.000 70 0% 95 27.4% 0 - possibly_damaging(0.942) deleterious(0) deleterious(0.832) NULL FLJ44635 392490 genome.wustl.edu 37 X 71379950 71379950 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_207422.2 +1 validated p.E91* 1.000 138 0% 358 31% 0 - - - - HMMPfam_TCTP,superfamily_Mss4_like ERCC6L 54821 genome.wustl.edu 37 X 71426262 71426262 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017669.2 -1 validated p.E785D 0.004 222 0% 242 34.3% 2 0% benign(0.009) deleterious(0) neutral(0.445) NULL CITED1 4435 genome.wustl.edu 37 X 71521767 71521767 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001144885.1 -1 reviewed p.A156T 0.032 68 0% 111 31.5% 2 0% benign(0.003) tolerated(0.47) neutral(0.011) HMMPfam_CITED PHKA1 5255 genome.wustl.edu 37 X 71802311 71802311 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002637.3 -1 reviewed p.I1145 0.664 141 0% 150 31.3% 13 0% - - - HMMPfam_PHK_AB CDX4 1046 genome.wustl.edu 37 X 72673384 72673384 + Silent SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005193.1 +1 provisional p.V178 0.999 160 0% 187 30.5% 0 - - - - HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like CDX4 1046 genome.wustl.edu 37 X 72674223 72674223 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005193.1 +1 provisional p.I219 1.000 227 0% 253 32% 0 - - - - HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like,PatternScan_HOMEOBOX_1 BMP2KL 347359 genome.wustl.edu 37 X 73405851 73405851 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000373488 +1 known p.E33K 1.000 23 0% 26 34.6% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL ZCCHC13 389874 genome.wustl.edu 37 X 73524122 73524122 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_203303.2 +1 reviewed p.F7 0.997 76 0% 111 35.1% 0 - - - - HMMSmart_ZnF_C2HC SLC16A2 6567 genome.wustl.edu 37 X 73749105 73749105 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006517.3 +1 reviewed p.F484V 1.000 464 0% 583 35.5% 3 0% possibly_damaging(0.868) deleterious(0.01) deleterious(0.743) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter RLIM 51132 genome.wustl.edu 37 X 73812730 73812730 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016120.3 -1 reviewed p.E140D 1.000 297 0% 423 32.9% 4 75% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL KIAA2022 340533 genome.wustl.edu 37 X 73960088 73960088 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001008537.2 -1 validated p.S1435I 1.000 334 0% 342 33.9% 0 - possibly_damaging(0.528) deleterious(0.01) deleterious(0.584) NULL KIAA2022 340533 genome.wustl.edu 37 X 73963779 73963779 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001008537.2 -1 validated p.L205 0.990 169 0% 239 33.5% 0 - - - - NULL KIAA2022 340533 genome.wustl.edu 37 X 73964241 73964241 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001008537.2 -1 validated p.P51S 0.603 204 0% 152 37.5% 0 - possibly_damaging(0.818) deleterious(0) deleterious(0.754) NULL KIAA2022 340533 genome.wustl.edu 37 X 73965415 73965415 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001008537.2 -1 validated p.K24T 1.000 314 0% 282 29.8% 0 - possibly_damaging(0.671) deleterious(0) deleterious(0.682) NULL ABCB7 22 genome.wustl.edu 37 X 74273408 74273408 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004299.3 -1 reviewed p.E687K 1.000 201 0% 239 23.4% 28 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF52540 ZDHHC15 158866 genome.wustl.edu 37 X 74670651 74670651 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144969.2 -1 reviewed p.R122I 1.000 245 0% 189 26.5% 0 - probably_damaging(0.974) deleterious(0.03) deleterious(0.780) HMMPfam_zf-DHHC MAGEE2 139599 genome.wustl.edu 37 X 75003798 75003798 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138703.4 -1 validated p.F363L 0.991 91 0% 181 29.3% 0 - benign(0.425) tolerated(0.1) neutral(0.424) HMMPfam_MAGE MAGEE1 57692 genome.wustl.edu 37 X 75649146 75649146 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020932.2 +1 reviewed p.A275T 0.000 18 0% 18 22.2% 0 - benign(0.017) tolerated(0.05) neutral(0.346) NULL ATRX 546 genome.wustl.edu 37 X 76778764 76778764 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000489.3 -1 reviewed p.K2272R 1.000 287 0% 351 33.6% 10 0% probably_damaging(0.994) tolerated(0.09) deleterious(0.748) NULL ATRX 546 genome.wustl.edu 37 X 76874295 76874295 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000400866 -1 known p.R98K 1.000 155 0% 129 28.7% 5 0% - - - HMMPfam_SNF2_N ATRX 546 genome.wustl.edu 37 X 76891466 76891466 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000489.3 -1 reviewed p.E1547* 1.000 234 0% 312 35.9% 7 0% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases ATRX 546 genome.wustl.edu 37 X 76937611 76937611 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000489.3 -1 reviewed p.S1046I 0.963 100 0% 79 22.8% 3 33.3% benign(0.116) deleterious(0.01) neutral(0.415) NULL ATRX 546 genome.wustl.edu 37 X 76938189 76938189 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000489.3 -1 reviewed p.E853D 0.998 249 0% 325 28.3% 1 0% probably_damaging(0.988) tolerated(0.09) deleterious(0.734) NULL PGAM4 441531 genome.wustl.edu 37 X 77224951 77224951 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001029891.2 -1 reviewed p.R62I 1.000 88 0% 134 35.8% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_PGAM,superfamily_SSF53254 ZCCHC5 203430 genome.wustl.edu 37 X 77913545 77913545 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152694.2 -1 reviewed p.K125E 0.000 186 0% 133 27.8% 0 - benign(0) tolerated(0.1) neutral(0.286) NULL ZCCHC5 203430 genome.wustl.edu 37 X 77913638 77913638 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152694.2 -1 reviewed p.L94I 0.001 129 0% 87 23% 0 - possibly_damaging(0.65) deleterious(0.04) deleterious(0.577) NULL LOC100288575 100288575 genome.wustl.edu 37 X 78216260 78216260 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002343827.1 -1 model p.K3E 0.998 198 0% 187 28.3% 1 0% - - - NULL P2RY10 27334 genome.wustl.edu 37 X 78216982 78216982 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014499.2 +1 reviewed p.S322Y 0.972 170 0% 164 28% 3 0% possibly_damaging(0.56) deleterious(0.03) deleterious(0.555) superfamily_SSF81321 GPR174 84636 genome.wustl.edu 37 X 78427131 78427131 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032553.1 +1 validated p.V209 0.012 176 0% 143 36.4% 1 0% - - - HMMPfam_7tm_1,superfamily_SSF81321 GPR174 84636 genome.wustl.edu 37 X 78427266 78427266 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032553.1 +1 validated p.F254 0.961 252 0% 200 27.5% 1 0% - - - HMMPfam_7tm_1,superfamily_SSF81321 TBX22 50945 genome.wustl.edu 37 X 79286169 79286169 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001109878.1 +1 reviewed p.K374N 0.995 394 0% 265 30.6% 0 - possibly_damaging(0.946) tolerated(0.41) neutral(0.405) NULL FAM46D 169966 genome.wustl.edu 37 X 79698321 79698321 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152630.4 +1 validated p.E95K 0.983 168 0% 98 34.7% 0 - benign(0.167) tolerated(0.51) neutral(0.024) HMMPfam_DUF1693 BRWD3 254065 genome.wustl.edu 37 X 79947594 79947594 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153252.4 -1 reviewed p.E1107* 1.000 176 0% 147 34% 5 0% - - - NULL BRWD3 254065 genome.wustl.edu 37 X 79965030 79965030 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153252.4 -1 reviewed p.R791H 0.997 170 0% 266 35% 3 0% probably_damaging(0.996) deleterious(0.02) deleterious(0.845) NULL BRWD3 254065 genome.wustl.edu 37 X 79990651 79990651 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153252.4 -1 reviewed p.Q320H 1.000 143 0% 137 22.6% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00320,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase BRWD3 254065 genome.wustl.edu 37 X 80001078 80001078 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153252.4 -1 reviewed p.R194I 1.000 55 0% 47 29.8% 2 0% probably_damaging(1) tolerated(0.64) deleterious(0.503) HMMSmart_SM00320,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase,HMMPfam_WD40 HMGN5 79366 genome.wustl.edu 37 X 80371810 80371810 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_030763.2 -1 reviewed p.E54* 0.010 364 0% 454 33.7% 23 0% - - - HMMPfam_HMG14_17,HMMSmart_SM00527 SH3BGRL 6451 genome.wustl.edu 37 X 80532588 80532588 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003022.2 +1 validated p.E51* 1.000 162 0% 172 30.2% 39 10.2% - - - HMMPfam_SH3BGR,superfamily_Thioredoxin-like POU3F4 5456 genome.wustl.edu 37 X 82764318 82764318 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000307.3 +1 reviewed p.R329Q 1.000 46 0% 42 38.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like,PatternScan_HOMEOBOX_1 CYLC1 1538 genome.wustl.edu 37 X 83128835 83128835 + Missense_Mutation SNP A A T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021118.1 +1 provisional p.E373D 0.974 76 0% 91 37.4% 0 - unknown(0) tolerated(0.11) - NULL CYLC1 1538 genome.wustl.edu 37 X 83129222 83129222 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021118.1 +1 provisional p.K502N 0.000 181 0% 209 34% 0 - unknown(0) tolerated(0.21) - NULL RPS6KA6 27330 genome.wustl.edu 37 X 83390130 83390130 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014496.4 -1 reviewed p.R197I 1.000 127 0% 131 26.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase APOOL 139322 genome.wustl.edu 37 X 84310908 84310908 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198450.4 +1 validated p.A124V 0.263 237 0.4% 188 27.1% 2 0% benign(0.003) tolerated(0.83) neutral(0.001) HMMPfam_ApoO ZNF711 7552 genome.wustl.edu 37 X 84510589 84510589 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021998.4 +1 reviewed p.T135N 1.000 191 0% 316 32.9% 4 0% benign(0.073) tolerated(0.12) neutral(0.266) HMMPfam_Zfx_Zfy_act CHM 1121 genome.wustl.edu 37 X 85156161 85156161 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000390.2 -1 reviewed p.R426I 1.000 131 0% 108 25% 0 - possibly_damaging(0.877) deleterious(0) deleterious(0.786) HMMPfam_GDI,superfamily_SSF51905 MIR361 494323 genome.wustl.edu 37 X 85158697 85158697 + RNA SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000362181 -1 known NULL 1.000 70 0% 59 30.5% 0 - - - - - CHM 1121 genome.wustl.edu 37 X 85211373 85211373 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000390.2 -1 reviewed p.E317 0.000 110 0% 112 31.2% 1 0% - - - HMMPfam_GDI,superfamily_SSF51905 KLHL4 56062 genome.wustl.edu 37 X 86868989 86868989 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_057162.2 +1 reviewed p.E178* 1.000 177 0% 139 32.4% 0 - - - - superfamily_POZ domain,HMMPfam_BTB KLHL4 56062 genome.wustl.edu 37 X 86880687 86880687 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_057162.2 +1 reviewed p.K405N 1.000 138 0% 119 37.8% 0 - probably_damaging(1) tolerated(0.27) deleterious(0.533) superfamily_Galactose oxidase central domain CPXCR1 53336 genome.wustl.edu 37 X 88008938 88008938 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033048.5 +1 validated p.R175* 0.063 81 0% 84 29.8% 0 - - - - NULL PABPC5 140886 genome.wustl.edu 37 X 90691635 90691635 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_080832.2 +1 reviewed p.E353D 1.000 66 0% 108 35.2% 0 - benign(0.093) tolerated(0.08) neutral(0.307) HMMPfam_RRM_1,HMMSmart_SM00360,HMMSmart_SM00361,superfamily_RNA-binding domain RBD NAP1L3 4675 genome.wustl.edu 37 X 92926978 92926978 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004538.4 -1 reviewed p.F442L 1.000 168 0% 213 29.6% 0 - benign(0.007) deleterious(0) neutral(0.445) HMMPfam_NAP FAM133A 286499 genome.wustl.edu 37 X 92964818 92964818 + Nonsense_Mutation SNP A A T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173698.2 +1 validated p.K134* 1.000 55 0% 38 47.4% 0 - - - - NULL DIAPH2 1730 genome.wustl.edu 37 X 96013171 96013171 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006729.4 +1 reviewed p.E121K 1.000 159 0% 215 36.3% 0 - unknown(0) deleterious(0.05) - HMMPfam_Drf_GBD DIAPH2 1730 genome.wustl.edu 37 X 96171473 96171473 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006729.4 +1 reviewed p.L257I 1.000 124 0% 97 25.8% 2 0% unknown(0) tolerated(1) - HMMPfam_Drf_GBD DIAPH2 1730 genome.wustl.edu 37 X 96173584 96173584 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006729.4 +1 reviewed p.G316C 1.000 229 0% 190 24.2% 3 0% unknown(0) tolerated(0.08) - HMMPfam_Drf_FH3 DIAPH2 1730 genome.wustl.edu 37 X 96369890 96369890 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006729.4 +1 reviewed p.L839I 0.997 173 0% 227 31.7% 6 0% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) HMMSmart_SM00498,HMMPfam_FH2,superfamily_Formin homology 2 domain (FH2 domain) DIAPH2 1730 genome.wustl.edu 37 X 96502836 96502836 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006729.4 +1 reviewed p.T948A 0.669 210 0% 328 32.3% 6 0% possibly_damaging(0.546) tolerated(0.51) neutral(0.195) HMMSmart_SM00498,HMMPfam_FH2,superfamily_Formin homology 2 domain (FH2 domain) DIAPH2 1730 genome.wustl.edu 37 X 96854313 96854313 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006729.4 +1 reviewed p.K1101N 0.997 150 0% 170 27.1% 2 0% possibly_damaging(0.662) deleterious(0.03) deleterious(0.599) NULL PCDH19 57526 genome.wustl.edu 37 X 99661933 99661933 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001105243.1 -1 reviewed p.D555N 1.000 174 0% 327 35.5% 8 87.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin PCDH19 57526 genome.wustl.edu 37 X 99662678 99662678 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001105243.1 -1 reviewed p.Y306* 0.885 99 0% 155 37.4% 5 0% - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin SRPX2 27286 genome.wustl.edu 37 X 99917299 99917299 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014467.2 +1 reviewed p.L97S 1.000 222 0% 228 34.2% 14 0% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module SRPX2 27286 genome.wustl.edu 37 X 99917314 99917314 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014467.2 +1 reviewed p.S102L 0.988 218 0% 202 28.2% 16 0% possibly_damaging(0.803) tolerated(0.2) neutral(0.351) HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module SRPX2 27286 genome.wustl.edu 37 X 99919925 99919925 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014467.2 +1 reviewed p.S170R 0.998 65 0% 40 10% 7 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module SRPX2 27286 genome.wustl.edu 37 X 99921796 99921796 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014467.2 +1 reviewed p.T276I 1.000 74 0% 86 34.9% 7 0% probably_damaging(0.991) deleterious(0.01) deleterious(0.850) HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module SYTL4 94121 genome.wustl.edu 37 X 99946198 99946198 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001129896.2 -1 reviewed p.F183C 0.104 222 0% 241 29.9% 4 0% benign(0.113) tolerated(0.18) neutral(0.065) HMMPfam_RPH3A_effector CSTF2 1478 genome.wustl.edu 37 X 100077364 100077364 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001325.2 +1 reviewed p.R88* 1.000 142 0% 221 32.6% 6 83.3% - - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD NOX1 27035 genome.wustl.edu 37 X 100105165 100105165 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007052.4 -1 reviewed p.E370K 0.995 238 0% 245 30.6% 0 - benign(0.005) tolerated(0.45) neutral(0.012) HMMPfam_FAD_binding_8,superfamily_Riboflavin synthase domain-like NOX1 27035 genome.wustl.edu 37 X 100117254 100117254 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007052.4 -1 reviewed p.E237G 0.005 213 0% 236 35.6% 0 - benign(0.245) tolerated(0.31) neutral(0.052) NULL NOX1 27035 genome.wustl.edu 37 X 100117443 100117443 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007052.4 -1 reviewed p.V203 0.999 122 0% 151 33.1% 0 - - - - HMMPfam_Ferric_reduct NOX1 27035 genome.wustl.edu 37 X 100125776 100125776 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007052.4 -1 reviewed p.L25 0.998 251 0% 336 27.1% 0 - - - - NULL ARL13A 392509 genome.wustl.edu 37 X 100242407 100242407 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001012990.3 +1 validated p.E172G 0.003 199 0% 285 30.5% 0 - benign(0) tolerated(0.42) neutral(0.014) HMMPfam_Arf,superfamily_SSF52540 ARL13A 392509 genome.wustl.edu 37 X 100243424 100243424 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001012990.3 +1 validated p.E268* 0.762 133 0% 197 28.4% 0 - - - - NULL TMEM35 59353 genome.wustl.edu 37 X 100349853 100349853 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021637.2 +1 validated p.R138W 0.962 130 0% 244 29.5% 2 0% possibly_damaging(0.938) deleterious(0.01) deleterious(0.789) NULL CENPI 2491 genome.wustl.edu 37 X 100381742 100381742 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006733.2 +1 reviewed p.F244L 0.762 304 0% 534 33.1% 0 - benign(0.001) tolerated(1) - HMMPfam_Mis6 DRP2 1821 genome.wustl.edu 37 X 100496667 100496667 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001939.2 +1 reviewed p.P190 0.053 64 0% 105 37.1% 0 - - - - HMMSmart_SPEC,superfamily_Spectrin DRP2 1821 genome.wustl.edu 37 X 100513461 100513461 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001939.2 +1 reviewed p.R852C 0.982 50 0% 65 38.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL TAF7L 54457 genome.wustl.edu 37 X 100534008 100534008 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024885.3 -1 reviewed p.E246* 0.000 143 0% 215 29.8% 0 - - - - HMMPfam_TAFII55_N TIMM8A 1678 genome.wustl.edu 37 X 100603562 100603562 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004085.3 -1 reviewed p.R31C 1.000 123 0% 188 35.1% 22 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-Tim10_DDP HNRNPH2 3188 genome.wustl.edu 37 X 100668225 100668225 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001032393.1 +1 reviewed p.S417G 1.000 214 0% 441 34.5% 123 0% benign(0.073) tolerated(0.18) neutral(0.061) NULL ARMCX3 51566 genome.wustl.edu 37 X 100880885 100880885 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016607.3 +1 reviewed p.L306M 0.994 56 0% 64 26.6% 31 70.9% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_DUF634,superfamily_ARM-type_fold NXF5 55998 genome.wustl.edu 37 X 101096486 101096486 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032946.2 -1 reviewed p.K95 0.195 426 0% 558 35.3% 0 - - - - NULL ZMAT1 84460 genome.wustl.edu 37 X 101138568 101138568 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001011657.2 -1 reviewed p.R611C 0.994 257 0% 345 35.7% 3 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZMAT1 84460 genome.wustl.edu 37 X 101139630 101139630 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001011657.2 -1 reviewed p.E257* 0.002 351 0.3% 257 31.5% 0 - - - - NULL ZMAT1 84460 genome.wustl.edu 37 X 101152903 101152903 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001011657.2 -1 reviewed p.K148T 0.836 151 0% 202 35.1% 2 100% benign(0.049) tolerated(0.45) neutral(0.015) HMMSmart_SM00451,HMMPfam_zf-U1,superfamily_C2H2 and C2HC zinc fingers TCEAL2 140597 genome.wustl.edu 37 X 101381919 101381919 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_080390.3 +1 reviewed p.K39N 0.000 246 0% 549 35% 1 0% probably_damaging(0.976) tolerated(0.28) neutral(0.450) HMMPfam_TFA TCEAL6 158931 genome.wustl.edu 37 X 101396012 101396012 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001006938.2 -1 validated p.E98K 0.521 387 0% 519 31.6% 0 - probably_damaging(0.998) tolerated(0.21) deleterious(0.518) HMMPfam_TFA NXF2 56001 genome.wustl.edu 37 X 101572387 101572387 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017809.3 +1 reviewed p.D95 0.000 414 0% 506 17.2% 0 - - - - NULL NXF2B 728343 genome.wustl.edu 37 X 101622755 101622755 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001099686.1 -1 provisional p.L322 0.900 525 0% 819 15.8% 0 - - - - superfamily_SSF52058 GPRASP1 9737 genome.wustl.edu 37 X 101910789 101910789 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001099410.1 +1 reviewed p.E650* 0.301 113 0% 303 35.6% 5 0% - - - NULL GPRASP1 9737 genome.wustl.edu 37 X 101911018 101911018 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001099410.1 +1 reviewed p.A726D 0.032 127 0% 229 29.7% 0 - probably_damaging(1) tolerated(0.09) deleterious(0.796) NULL GPRASP2 114928 genome.wustl.edu 37 X 101970306 101970306 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001004051.2 +1 reviewed p.S170F 0.003 71 0% 99 26.3% 2 0% probably_damaging(0.99) deleterious(0.03) deleterious(0.806) NULL BHLHB9 80823 genome.wustl.edu 37 X 102004411 102004411 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142524.1 +1 validated p.S163L 0.014 138 0% 201 35.3% 1 0% benign(0.037) tolerated(0.16) neutral(0.061) NULL RAB40AL 282808 genome.wustl.edu 37 X 102192373 102192373 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001031834.1 +1 reviewed p.Y43H 1.000 168 0% 211 32.7% 0 - possibly_damaging(0.941) tolerated(0.08) deleterious(0.686) HMMSmart_RAB,superfamily_SSF52540 BEX1 55859 genome.wustl.edu 37 X 102318106 102318106 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018476.3 -1 validated p.P33S 0.242 161 0% 255 31% 250 0% benign(0.002) tolerated(0.42) neutral(0.014) HMMPfam_BEX NXF3 56000 genome.wustl.edu 37 X 102334740 102334740 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022052.1 -1 reviewed p.E371* 0.036 215 0% 256 33.2% 0 - - - - HMMPfam_NTF2,superfamily_NTF2-like TCEAL7 56849 genome.wustl.edu 37 X 102586415 102586415 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_152278.2 +1 provisional p.F28L 0.996 99 0% 191 48.7% 4 0% benign(0.053) tolerated(0.7) neutral(0.005) HMMPfam_TFA TCEAL4 79921 genome.wustl.edu 37 X 102842178 102842178 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001006935.1 +1 reviewed p.P192H 0.001 132 0% 197 29.4% 233 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TCEAL1 9338 genome.wustl.edu 37 X 102884932 102884932 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001006639.1 +1 reviewed p.E30K 0.018 51 0% 39 33.3% 7 0% benign(0) tolerated(0.31) neutral(0.027) HMMPfam_TFA TCEAL1 9338 genome.wustl.edu 37 X 102885150 102885150 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001006639.1 +1 reviewed p.F102L 0.994 51 0% 150 32.7% 26 0% possibly_damaging(0.465) deleterious(0) deleterious(0.598) HMMPfam_TFA MORF4L2 9643 genome.wustl.edu 37 X 102931325 102931325 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142418.1 -1 validated p.L211I 0.996 152 0% 185 25.4% 311 0% possibly_damaging(0.951) tolerated(0.09) deleterious(0.691) HMMPfam_MRG MORF4L2 9643 genome.wustl.edu 37 X 102931447 102931447 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142418.1 -1 validated p.G170E 1.000 231 0% 304 27.3% 208 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MRG ZCCHC18 644353 genome.wustl.edu 37 X 103358885 103358885 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001143978.1 +1 provisional p.S28Y 0.057 156 0% 234 33.3% 0 - - - - NULL ESX1 80712 genome.wustl.edu 37 X 103499462 103499462 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153448.3 -1 reviewed p.I23 0.000 100 0% 149 32.9% 0 - - - - NULL TEX13A 56157 genome.wustl.edu 37 X 104464719 104464719 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000413579 -1 known p.E121D 0.000 56 0% 68 36.8% 0 - benign(0.389) tolerated(0.07) neutral(0.444) NULL IL1RAPL2 26280 genome.wustl.edu 37 X 105011226 105011226 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017416.1 +1 reviewed p.N545H 1.000 92 0% 66 40.9% 0 - possibly_damaging(0.487) deleterious(0.01) deleterious(0.568) HMMPfam_TIR,HMMSmart_SM00255,superfamily_Toll/Interleukin receptor TIR domain IL1RAPL2 26280 genome.wustl.edu 37 X 105011244 105011244 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017416.1 +1 reviewed p.H551Y 1.000 92 0% 72 26.4% 0 - possibly_damaging(0.451) tolerated(0.08) neutral(0.448) HMMPfam_TIR,HMMSmart_SM00255,superfamily_Toll/Interleukin receptor TIR domain NRK 203447 genome.wustl.edu 37 X 105153831 105153831 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_198465.2 +1 validated p.D733G 0.987 57 0% 59 35.6% 0 - benign(0.019) deleterious(0) neutral(0.446) superfamily_p53-like transcription factors SERPINA7 6906 genome.wustl.edu 37 X 105280746 105280746 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000354.5 -1 reviewed p.D102Y 0.975 157 0% 94 43.6% 0 - benign(0.168) deleterious(0) neutral(0.460) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin MUM1L1 139221 genome.wustl.edu 37 X 105450377 105450377 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000337685 +1 known p.E318K 0.013 33 0% 43 37.2% 3 0% benign(0.001) tolerated(0.84) neutral(0.001) NULL MUM1L1 139221 genome.wustl.edu 37 X 105450473 105450473 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000337685 +1 known p.E350* 0.454 39 0% 47 23.4% 3 0% - - - NULL MUM1L1 139221 genome.wustl.edu 37 X 105450676 105450676 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000337685 +1 known p.E417D 0.899 107 0% 128 21.9% 3 0% probably_damaging(0.987) tolerated(1) neutral(0.436) superfamily_SSF63748 CXorf57 55086 genome.wustl.edu 37 X 105855798 105855798 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018015.5 +1 validated p.S163Y 0.004 61 0% 64 29.7% 0 - probably_damaging(0.99) deleterious(0.03) deleterious(0.806) NULL CXorf57 55086 genome.wustl.edu 37 X 105876195 105876195 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018015.5 +1 validated p.I374 0.988 240 0.4% 205 35.6% 0 - - - - NULL CXorf57 55086 genome.wustl.edu 37 X 105876203 105876203 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018015.5 +1 validated p.V377G 0.998 239 0% 196 29.6% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL CXorf57 55086 genome.wustl.edu 37 X 105881035 105881035 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018015.5 +1 validated p.F485C 0.999 129 0% 173 40.5% 0 - benign(0.267) deleterious(0.01) neutral(0.434) NULL CXorf57 55086 genome.wustl.edu 37 X 105905268 105905268 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018015.5 +1 validated p.L668M 0.000 151 0% 131 27.5% 0 - benign(0.163) tolerated(0.24) neutral(0.052) NULL TBC1D8B 54885 genome.wustl.edu 37 X 106069274 106069274 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017752.2 +1 validated p.R281I 0.991 180 0% 68 22.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL TBC1D8B 54885 genome.wustl.edu 37 X 106082590 106082590 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017752.2 +1 validated p.S419Y 0.018 264 0% 248 36.3% 0 - benign(0.108) deleterious(0.04) neutral(0.357) NULL TBC1D8B 54885 genome.wustl.edu 37 X 106096816 106096816 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017752.2 +1 validated p.V730A 0.020 230 0% 350 28.3% 0 - benign(0.069) tolerated(0.67) neutral(0.007) superfamily_Ypt/Rab-GAP domain of gyp1p TBC1D8B 54885 genome.wustl.edu 37 X 106116864 106116864 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017752.2 +1 validated p.S1011* 0.427 259 0% 240 20.8% 0 - - - - NULL MORC4 79710 genome.wustl.edu 37 X 106185792 106185792 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024657.4 -1 reviewed p.E777* 0.957 276 0% 198 26.8% 4 25% - - - NULL MORC4 79710 genome.wustl.edu 37 X 106198163 106198163 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024657.4 -1 reviewed p.S555 0.038 234 0% 232 33.6% 5 40% - - - NULL MORC4 79710 genome.wustl.edu 37 X 106201644 106201644 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024657.4 -1 reviewed p.R436I 0.998 196 0% 171 31% 3 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_zf-CW MID2 11043 genome.wustl.edu 37 X 107083938 107083938 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012216.3 +1 reviewed p.G15R 1.000 118 0% 183 29.5% 0 - unknown(0) tolerated(0.13) - superfamily_RING/U-box MID2 11043 genome.wustl.edu 37 X 107170005 107170005 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012216.3 +1 reviewed p.R637K 1.000 191 0% 171 36.3% 2 100% possibly_damaging(0.882) tolerated(0.54) neutral(0.352) HMMPfam_SPRY,HMMSmart_SM00449 TEX13B 56156 genome.wustl.edu 37 X 107225250 107225250 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031273.2 -1 reviewed p.F36 0.000 162 0% 195 29.7% 0 - - - - NULL PSMD10 5716 genome.wustl.edu 37 X 107330977 107330977 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002814.2 -1 reviewed p.H156N 1.000 342 0% 384 31.8% 36 72.2% benign(0.002) tolerated(0.22) neutral(0.042) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK COL4A6 1288 genome.wustl.edu 37 X 107417803 107417803 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001847.2 -1 reviewed p.A1003D 0.007 75 0% 59 35.6% 0 - probably_damaging(0.982) tolerated(0.5) neutral(0.436) HMMPfam_Collagen COL4A6 1288 genome.wustl.edu 37 X 107422627 107422627 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001847.2 -1 reviewed p.P726S 1.000 82 0% 98 38.8% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_Collagen COL4A6 1288 genome.wustl.edu 37 X 107448921 107448921 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001847.2 -1 reviewed p.P206H 0.992 88 0% 44 27.3% 0 - unknown(0) deleterious(0) - HMMPfam_Collagen COL4A5 1287 genome.wustl.edu 37 X 107821341 107821341 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033380.1 +1 reviewed p.G227C 1.000 188 0% 138 25.4% 2 0% unknown(0) deleterious(0.01) - NULL IRS4 8471 genome.wustl.edu 37 X 107976897 107976897 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003604.2 -1 reviewed p.S893Y 0.962 287 0% 383 33.4% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL IRS4 8471 genome.wustl.edu 37 X 107977381 107977381 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003604.2 -1 reviewed p.H732N 0.004 97 0% 141 36.9% 0 - probably_damaging(0.99) tolerated(0.28) deleterious(0.473) NULL GUCY2F 2986 genome.wustl.edu 37 X 108635277 108635277 + Missense_Mutation SNP A A T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001522.2 -1 reviewed p.L882M 0.946 121 0% 105 35.2% 0 - possibly_damaging(0.658) deleterious(0.01) deleterious(0.638) HMMPfam_Guanylate_cyc,HMMSmart_SM00044,superfamily_Adenylyl and guanylyl cyclase catalytic domain GUCY2F 2986 genome.wustl.edu 37 X 108718936 108718936 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001522.2 -1 reviewed p.R77Q 0.001 72 0% 67 32.8% 0 - benign(0.001) tolerated(0.37) neutral(0.019) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I ACSL4 2182 genome.wustl.edu 37 X 108912397 108912397 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022977.2 -1 reviewed p.I377 0.998 174 0% 195 25.1% 4 0% - - - HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like ACSL4 2182 genome.wustl.edu 37 X 108921509 108921509 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022977.2 -1 reviewed p.R305I 0.998 149 0% 191 31.4% 3 0% probably_damaging(0.999) tolerated(0.42) deleterious(0.504) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like TMEM164 84187 genome.wustl.edu 37 X 109416526 109416526 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032227.3 +1 validated p.F247L 1.000 115 0% 127 22.8% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL RGAG1 57529 genome.wustl.edu 37 X 109696277 109696277 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020769.2 +1 validated p.R811I 0.554 103 0% 113 32.7% 0 - probably_damaging(0.981) deleterious(0.04) deleterious(0.774) NULL RGAG1 57529 genome.wustl.edu 37 X 109697346 109697346 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020769.2 +1 validated p.E1167 0.916 271 0% 438 30.1% 0 - - - - NULL CHRDL1 91851 genome.wustl.edu 37 X 109922648 109922648 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001143981.1 -1 reviewed p.L388F 1.000 218 0% 251 31.1% 1 0% probably_damaging(0.998) tolerated(0.35) deleterious(0.495) NULL PAK3 5063 genome.wustl.edu 37 X 110385385 110385385 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001128168.1 +1 reviewed p.T79 0.999 363 0% 163 28.2% 0 - - - - HMMPfam_PBD,HMMSmart_PBD PAK3 5063 genome.wustl.edu 37 X 110406149 110406149 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001128168.1 +1 reviewed p.K195E 1.000 221 0% 215 35.3% 0 - benign(0.008) tolerated(0.8) neutral(0.001) NULL PAK3 5063 genome.wustl.edu 37 X 110406180 110406180 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001128168.1 +1 reviewed p.P205H 1.000 239 0% 259 32% 0 - benign(0) deleterious(0) neutral(0.445) NULL PAK3 5063 genome.wustl.edu 37 X 110435374 110435374 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001128168.1 +1 reviewed p.T320A 1.000 230 0% 266 38.3% 0 - possibly_damaging(0.483) deleterious(0) deleterious(0.605) HMMSmart_S_TKc,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase PAK3 5063 genome.wustl.edu 37 X 110439685 110439685 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001128168.1 +1 reviewed p.F444L 1.000 237 0% 197 33.5% 0 - possibly_damaging(0.946) deleterious(0) deleterious(0.835) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase DCX 1641 genome.wustl.edu 37 X 110654140 110654140 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000358070 -1 known p.R13K 0.673 262 0% 305 28.5% 0 - - - - NULL ALG13 79868 genome.wustl.edu 37 X 111003136 111003136 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000394780 +1 known p.S1108Y 0.006 276 0% 256 27% 7 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL LHFPL1 340596 genome.wustl.edu 37 X 111903918 111903918 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178175.3 -1 reviewed p.L140V 0.994 238 0% 296 33.8% 0 - benign(0.029) tolerated(0.72) neutral(0.003) HMMPfam_L_HGMIC_fpl LHFPL1 340596 genome.wustl.edu 37 X 111914423 111914423 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_178175.3 -1 reviewed p.E66* 1.000 134 0% 161 36% 0 - - - - HMMPfam_L_HGMIC_fpl AMOT 154796 genome.wustl.edu 37 X 112065588 112065588 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001113490.1 -1 reviewed p.P256L 1.000 270 0% 336 31.8% 0 - benign(0.003) tolerated(0.09) neutral(0.296) NULL AMOT 154796 genome.wustl.edu 37 X 112066333 112066333 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001113490.1 -1 reviewed p.P8S 0.935 178 0% 217 28.6% 2 0% benign(0.019) tolerated(0.3) neutral(0.030) NULL HTR2C 3358 genome.wustl.edu 37 X 114141552 114141552 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000868.2 +1 reviewed p.F317L 1.000 359 0% 354 33.9% 0 - probably_damaging(1) tolerated(0.13) deleterious(0.752) HMMPfam_7tm_1,superfamily_SSF81321 HTR2C 3358 genome.wustl.edu 37 X 114141695 114141695 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000868.2 +1 reviewed p.P365H 1.000 340 0% 315 33% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 LRCH2 57631 genome.wustl.edu 37 X 114400484 114400484 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020871.3 -1 validated p.S373F 1.000 294 0% 315 30.5% 0 - probably_damaging(1) tolerated(0.7) deleterious(0.502) NULL RBMXL3 139804 genome.wustl.edu 37 X 114426218 114426218 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145346.1 +1 validated p.S738 0.724 79 0% 86 38.4% 0 - - - - NULL RBMXL3 139804 genome.wustl.edu 37 X 114426528 114426528 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145346.1 +1 validated p.R842C 0.025 39 0% 56 35.7% 0 - probably_damaging(0.965) deleterious(0) deleterious(0.851) NULL LUZP4 51213 genome.wustl.edu 37 X 114540772 114540772 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000371921 +1 known p.E76* 0.009 68 0% 102 28.4% 0 - - - - NULL LUZP4 51213 genome.wustl.edu 37 X 114540933 114540933 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016383.3 +1 validated p.S169Y 0.001 173 0% 246 40.7% 0 - possibly_damaging(0.952) deleterious(0.01) deleterious(0.801) NULL LUZP4 51213 genome.wustl.edu 37 X 114541003 114541003 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016383.3 +1 validated p.G192 0.000 171 0% 209 33.5% 0 - - - - NULL PLS3 5358 genome.wustl.edu 37 X 114863533 114863533 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001136025.3 +1 reviewed p.S87 0.997 172 0% 259 35.9% 7 0% - - - superfamily_EF-hand LOC642357 642357 genome.wustl.edu 37 X 114937281 114937281 + RNA SNP C C T rs184731711 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XR_016681.3 +1 model NULL 0.004 32 0% 82 22% 0 - - - - - SLC6A14 11254 genome.wustl.edu 37 X 115573861 115573861 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007231.3 +1 reviewed p.G118V 1.000 257 0% 198 28.8% 2 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SNF KLHL13 90293 genome.wustl.edu 37 X 117044002 117044002 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033495.3 -1 reviewed p.E210K 1.000 71 0% 48 29.2% 6 0% benign(0.041) tolerated(0.4) neutral(0.018) HMMPfam_BACK KLHL13 90293 genome.wustl.edu 37 X 117053614 117053614 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_033495.3 -1 reviewed p.K147T 1.000 152 0% 154 33.8% 2 50% benign(0.016) tolerated(0.27) neutral(0.034) HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB MIR1277 100302214 genome.wustl.edu 37 X 117520365 117520366 + RNA INS - - AT novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000408536 +1 known NULL 1.000:0.986 - - - - - - - - - - WDR44 54521 genome.wustl.edu 37 X 117526698 117526698 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019045.4 +1 reviewed p.P97H 0.215 107 0% 135 17% 1 0% benign(0) tolerated(0.14) neutral(0.249) NULL WDR44 54521 genome.wustl.edu 37 X 117526873 117526873 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000371848 +1 known p.E55K 0.000 113 0% 185 30.3% 1 100% - - - NULL WDR44 54521 genome.wustl.edu 37 X 117532380 117532380 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000371848 +1 known p.E307* 0.854 134 0% 183 30.1% 6 0% benign(0.008) tolerated(0.39) neutral(0.016) superfamily_WD40 repeat-like DOCK11 139818 genome.wustl.edu 37 X 117676694 117676694 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144658.3 +1 validated p.A37T 1.000 194 0% 261 19.2% 0 - benign(0) tolerated(0.07) neutral(0.319) NULL DOCK11 139818 genome.wustl.edu 37 X 117695438 117695438 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144658.3 +1 validated p.S217 1.000 188 0% 264 34.1% 0 - - - - HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 DOCK11 139818 genome.wustl.edu 37 X 117706314 117706314 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144658.3 +1 validated p.D355G 1.000 156 0% 171 24.6% 1 0% benign(0.413) tolerated(0.27) neutral(0.167) NULL DOCK11 139818 genome.wustl.edu 37 X 117727301 117727301 + Splice_Site SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144658.3 +1 validated e20+1 1.000 125 0% 124 25.8% 0 - - - - - DOCK11 139818 genome.wustl.edu 37 X 117770374 117770374 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144658.3 +1 validated p.E1318* 1.000 232 0% 218 26.1% 1 0% - - - NULL DOCK11 139818 genome.wustl.edu 37 X 117815110 117815110 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144658.3 +1 validated p.E1921* 1.000 72 0% 96 37.5% 5 20% - - - HMMPfam_Ded_cyto DOCK11 139818 genome.wustl.edu 37 X 117815747 117815747 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144658.3 +1 validated p.D1985Y 1.000 266 0% 347 25.6% 5 0% benign(0.03) deleterious(0) neutral(0.446) HMMPfam_Ded_cyto IL13RA1 3597 genome.wustl.edu 37 X 117895241 117895241 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001560.2 +1 reviewed p.N273D 0.000 199 0% 230 32.2% 20 100% benign(0) tolerated(0.65) neutral(0.003) superfamily_Fibronectin type III KIAA1210 57481 genome.wustl.edu 37 X 118221431 118221431 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020721.1 -1 validated p.K1254N 0.004 73 0% 92 32.6% 0 - probably_damaging(0.998) tolerated(0.06) deleterious(0.797) NULL KIAA1210 57481 genome.wustl.edu 37 X 118222389 118222389 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020721.1 -1 validated p.S935F 0.000 155 0% 182 33.5% 0 - possibly_damaging(0.951) - - NULL KIAA1210 57481 genome.wustl.edu 37 X 118222608 118222608 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020721.1 -1 validated p.T862I 0.000 130 0% 95 34.7% 0 - benign(0.24) deleterious(0.03) neutral(0.389) NULL KIAA1210 57481 genome.wustl.edu 37 X 118223457 118223457 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020721.1 -1 validated p.A579D 0.001 306 0.3% 477 38.6% 0 - probably_damaging(0.996) - - NULL CXorf56 63932 genome.wustl.edu 37 X 118694273 118694273 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_022101.3 -1 validated p.K67T 1.000 228 0% 419 28.6% 17 0% possibly_damaging(0.855) deleterious(0) deleterious(0.774) NULL NKRF 55922 genome.wustl.edu 37 X 118723981 118723981 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017544.3 -1 reviewed p.V469 1.000 129 0% 188 34% 7 0% - - - HMMSmart_SM00358,superfamily_dsRNA-binding domain-like NKRF 55922 genome.wustl.edu 37 X 118725227 118725227 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017544.3 -1 reviewed p.R54I 1.000 117 0% 186 31.7% 3 0% probably_damaging(0.986) deleterious(0) deleterious(0.879) NULL SEPT6 23157 genome.wustl.edu 37 X 118797493 118797493 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_015129.5 -1 reviewed p.T98M 1.000 166 0% 322 34.2% 13 84.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Septin,superfamily_P-loop containing nucleoside triphosphate hydrolases RPL39 6170 genome.wustl.edu 37 X 118923917 118923917 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001000.2 -1 reviewed p.R21C 1.000 142 0% 253 37.2% 1859 0.1% benign(0.042) tolerated(0.05) neutral(0.348) HMMPfam_Ribosomal_L39,superfamily_Ribosomal protein L39e UPF3B 65109 genome.wustl.edu 37 X 118971830 118971830 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_080632.1 -1 reviewed p.D398Y 1.000 346 0% 585 31.8% 9 0% possibly_damaging(0.795) deleterious(0.03) deleterious(0.663) NULL UPF3B 65109 genome.wustl.edu 37 X 118985491 118985491 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_080632.1 -1 reviewed p.R113C 1.000 145 0% 255 24.3% 7 0% benign(0.309) deleterious(0) deleterious(0.541) HMMPfam_Smg4_UPF3,superfamily_RNA-binding domain RBD NKAP 79576 genome.wustl.edu 37 X 119070272 119070272 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024528.3 -1 reviewed p.T221A 0.117 262 0% 484 20.5% 18 0% unknown(0) tolerated(0.33) - NULL ZBTB33 10009 genome.wustl.edu 37 X 119387283 119387283 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006777.3 +1 reviewed p.K5Q 1.000 93 0% 98 36.7% 10 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) superfamily_POZ domain ZBTB33 10009 genome.wustl.edu 37 X 119387605 119387605 + Missense_Mutation SNP T T A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006777.3 +1 reviewed p.F112Y 1.000 103 0% 119 37.8% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB ATP1B4 23439 genome.wustl.edu 37 X 119509329 119509329 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142447.2 +1 reviewed p.F222C 1.000 205 0% 258 31% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Na_K-ATPase,PatternScan_ATPASE_NA_K_BETA_2 LAMP2 3920 genome.wustl.edu 37 X 119581876 119581876 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001122606.1 -1 reviewed p.F187L 0.000 214 0% 384 29.7% 91 0% benign(0.051) tolerated(0.44) neutral(0.015) HMMPfam_Lamp LAMP2 3920 genome.wustl.edu 37 X 119589309 119589309 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001122606.1 -1 reviewed p.A100 0.728 259 0% 345 33% 76 89.4% - - - NULL CUL4B 8450 genome.wustl.edu 37 X 119674363 119674363 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003588.3 -1 reviewed p.E518* 1.000 205 0% 208 34.1% 2 0% - - - HMMPfam_Cullin,superfamily_Cullin repeat CUL4B 8450 genome.wustl.edu 37 X 119678368 119678368 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003588.3 -1 reviewed p.R369* 0.984 149 0% 198 27.8% 3 0% - - - HMMPfam_Cullin,superfamily_Cullin repeat CUL4B 8450 genome.wustl.edu 37 X 119694089 119694089 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003588.3 -1 reviewed p.Q153H 1.000 109 0% 161 31.7% 1 0% benign(0) tolerated(0.23) neutral(0.042) NULL CT47B1 643311 genome.wustl.edu 37 X 120008784 120008784 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145718.1 -1 validated p.E247D 0.001 291 0% 250 32.4% 0 - unknown(0) tolerated(0.17) - NULL CT47B1 643311 genome.wustl.edu 37 X 120008813 120008813 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001145718.1 -1 validated p.E238* 0.001 317 0% 264 25.8% 0 - - - - NULL GLUD2 2747 genome.wustl.edu 37 X 120182035 120182035 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012084.3 +1 reviewed p.S166Y 0.998 106 0% 121 32.2% 11 0% benign(0.197) deleterious(0) neutral(0.463) HMMPfam_ELFV_dehydrog_N,superfamily_SSF53223 GLUD2 2747 genome.wustl.edu 37 X 120182121 120182121 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012084.3 +1 reviewed p.E195K 0.986 101 0% 171 40.4% 0 - benign(0) tolerated(0.63) neutral(0.004) HMMPfam_ELFV_dehydrog_N,superfamily_SSF53223 GRIA3 2892 genome.wustl.edu 37 X 122319772 122319772 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000264357 +1 known p.E66D 1.000 306 0% 399 40.1% 1 100% possibly_damaging(0.82) tolerated(0.19) neutral(0.360) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I GRIA3 2892 genome.wustl.edu 37 X 122387342 122387342 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000264357 +1 known p.L153M 0.998 149 0% 119 39.5% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I THOC2 57187 genome.wustl.edu 37 X 122753330 122753330 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000441692 -1 known p.R206I 1.000 163 0% 136 40.4% 7 0% unknown(0) tolerated(0.1) - NULL THOC2 57187 genome.wustl.edu 37 X 122755356 122755356 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001081550.1 -1 validated p.P1290S 1.000 371 0% 356 29.5% 11 0% possibly_damaging(0.89) tolerated(0.26) neutral(0.384) NULL THOC2 57187 genome.wustl.edu 37 X 122802018 122802018 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001081550.1 -1 validated p.V337L 1.000 353 0% 410 30.7% 2 100% benign(0.004) tolerated(0.64) neutral(0.003) NULL XIAP 331 genome.wustl.edu 37 X 123019598 123019598 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001167.2 +1 reviewed p.R29I 1.000 54 0% 94 25.5% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_BIR,HMMSmart_BIR,PatternScan_BIR_REPEAT_1,superfamily_SSF57924 XIAP 331 genome.wustl.edu 37 X 123020215 123020215 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001167.2 +1 reviewed p.L235I 0.960 221 0% 408 32.1% 1 0% benign(0) tolerated(0.44) neutral(0.013) superfamily_SSF57924 XIAP 331 genome.wustl.edu 37 X 123040882 123040882 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001167.2 +1 reviewed p.L449F 1.000 136 0% 208 27.4% 2 0% probably_damaging(0.992) tolerated(0.17) deleterious(0.506) superfamily_SSF57924 STAG2 10735 genome.wustl.edu 37 X 123159735 123159735 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001042749.1 +1 validated p.I30 0.999 193 0% 236 32.6% 5 80% - - - NULL STAG2 10735 genome.wustl.edu 37 X 123164904 123164904 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001042749.1 +1 validated p.H73Y 1.000 254 0% 502 29.9% 15 0% benign(0.424) tolerated(0.06) neutral(0.460) NULL STAG2 10735 genome.wustl.edu 37 X 123176489 123176489 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001042749.1 +1 validated p.F152 1.000 145 0% 221 28.1% 8 87.5% - - - NULL STAG2 10735 genome.wustl.edu 37 X 123181245 123181245 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001042749.1 +1 validated p.L237I 1.000 130 0% 205 26.8% 9 0% possibly_damaging(0.922) deleterious(0.02) deleterious(0.754) HMMPfam_STAG,superfamily_ARM-type_fold STAG2 10735 genome.wustl.edu 37 X 123189994 123189994 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001042749.1 +1 validated p.L405I 1.000 194 0% 228 31.6% 3 0% probably_damaging(0.989) deleterious(0) deleterious(0.884) superfamily_ARM-type_fold ODZ1 10178 genome.wustl.edu 37 X 123514421 123514421 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014253.3 -1 reviewed p.H2715N 1.000 274 0% 269 25.7% 0 - probably_damaging(0.956) tolerated(0.15) deleterious(0.641) NULL ODZ1 10178 genome.wustl.edu 37 X 123517812 123517812 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014253.3 -1 reviewed p.A2316 0.999 128 0% 152 29.6% 0 - - - - NULL ODZ1 10178 genome.wustl.edu 37 X 123518430 123518430 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014253.3 -1 reviewed p.E2110D 1.000 389 0% 416 31% 0 - probably_damaging(0.995) tolerated(0.09) deleterious(0.754) NULL ODZ1 10178 genome.wustl.edu 37 X 123554583 123554583 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014253.3 -1 reviewed p.L1513 0.935 138 0% 188 31.4% 0 - - - - HMMPfam_NHL,superfamily_N2O_reductase_N,superfamily_SSF101898 ODZ1 10178 genome.wustl.edu 37 X 123695572 123695572 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014253.3 -1 reviewed p.C795R 1.000 381 0% 388 31.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_EGF,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_SSF57196 ODZ1 10178 genome.wustl.edu 37 X 123838974 123838974 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014253.3 -1 reviewed p.R302 0.949 164 0% 206 37.9% 0 - - - - HMMPfam_Ten_N ODZ1 10178 genome.wustl.edu 37 X 123839096 123839096 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014253.3 -1 reviewed p.F261S 1.000 108 0% 129 33.3% 0 - benign(0.047) deleterious(0) neutral(0.448) HMMPfam_Ten_N ACTRT1 139741 genome.wustl.edu 37 X 127185114 127185114 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138289.3 -1 reviewed p.V358I 1.000 186 0% 221 30.8% 0 - benign(0.007) tolerated(1) - HMMPfam_Actin,HMMSmart_ACTIN,superfamily_SSF53067 SMARCA1 6594 genome.wustl.edu 37 X 128602858 128602858 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003069.3 -1 reviewed p.D864N 1.000 274 0% 312 21.5% 39 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_SM00717,superfamily_Homeodomain-like,superfamily_P-loop containing nucleoside triphosphate hydrolases OCRL 4952 genome.wustl.edu 37 X 128694583 128694583 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000276.3 +1 reviewed p.P260H 1.000 214 0% 242 26% 9 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMSmart_SM00128,HMMPfam_Exo_endo_phos,superfamily_DNase I-like OCRL 4952 genome.wustl.edu 37 X 128723899 128723899 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000276.3 +1 reviewed p.F849L 1.000 179 0% 213 34.7% 9 0% benign(0.019) tolerated(0.25) neutral(0.038) HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP OCRL 4952 genome.wustl.edu 37 X 128724235 128724235 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000276.3 +1 reviewed p.S898 0.075 336 0% 319 31% 10 0% - - - NULL SASH3 54440 genome.wustl.edu 37 X 128926581 128926581 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000443760 +1 known p.F240L 0.000 150 0% 210 35.2% 0 - unknown(0) tolerated(0.23) - NULL ZDHHC9 51114 genome.wustl.edu 37 X 128975763 128975763 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000433917 -1 known p.S13L 0.857 122 0% 231 31.6% 35 0% - - - NULL BCORL1 63035 genome.wustl.edu 37 X 129146999 129146999 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_021946.3 +1 reviewed p.L84R 1.000 14 0% 14 35.7% 1 0% unknown(0) deleterious(0) - NULL BCORL1 63035 genome.wustl.edu 37 X 129148827 129148827 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000441294 +1 known p.R129C 0.451 72 0% 163 36.2% 4 100% - - - NULL BCORL1 63035 genome.wustl.edu 37 X 129156885 129156885 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000441294 +1 known p.E643* 1.000 232 0% 360 35% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL AIFM1 9131 genome.wustl.edu 37 X 129279545 129279545 + Splice_Site SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004208.3 -1 reviewed e6-1 1.000 178 0% 377 26% 0 - - - - - AIFM1 9131 genome.wustl.edu 37 X 129281790 129281790 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004208.3 -1 reviewed p.I137M 0.009 135 0% 213 28.6% 28 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pyr_redox_2,superfamily_FAD/NAD(P)-binding domain SLC25A14 9016 genome.wustl.edu 37 X 129492617 129492617 + Nonsense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003951.2 +1 reviewed p.R168* 1.000 235 0% 240 29.2% 7 0% - - - superfamily_Mitochondrial carrier,HMMPfam_Mito_carr ENOX2 10495 genome.wustl.edu 37 X 129804065 129804065 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182314.1 -1 reviewed p.R219C 1.000 297 0% 367 32.4% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ARHGAP36 158763 genome.wustl.edu 37 X 130219664 130219664 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_144967.3 +1 validated p.K353T 0.799 264 0% 310 32.9% 0 - benign(0) tolerated(0.6) neutral(0.004) HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP IGSF1 3547 genome.wustl.edu 37 X 130411008 130411008 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001555.4 -1 reviewed p.S838L 0.257 182 0% 215 33% 0 - probably_damaging(0.983) tolerated(0.18) deleterious(0.485) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin IGSF1 3547 genome.wustl.edu 37 X 130411833 130411833 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001555.4 -1 reviewed p.K773Q 1.000 273 0% 335 33.4% 0 - probably_damaging(0.969) tolerated(0.42) neutral(0.425) HMMSmart_SM00409,superfamily_Immunoglobulin MST4 51765 genome.wustl.edu 37 X 131206349 131206349 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_016542.3 +1 reviewed p.V329A 1.000 214 0% 212 30.2% 6 0% probably_damaging(0.992) deleterious(0) deleterious(0.892) NULL FRMD7 90167 genome.wustl.edu 37 X 131212742 131212742 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_194277.2 -1 reviewed p.D435Y 1.000 257 0% 256 28.9% 0 - possibly_damaging(0.688) deleterious(0) deleterious(0.691) NULL MBNL3 55796 genome.wustl.edu 37 X 131524945 131524945 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018388.3 -1 reviewed p.P234H 1.000 142 0% 91 30.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-CCCH,HMMSmart_SM00356,superfamily_CCCH zinc finger USP26 83844 genome.wustl.edu 37 X 132160874 132160874 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031907.1 -1 reviewed p.E459K 0.068 73 0% 61 27.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UCH,superfamily_Cysteine proteinases USP26 83844 genome.wustl.edu 37 X 132162147 132162147 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_031907.1 -1 reviewed p.K34 0.000 153 0% 97 35.1% 0 - - - - NULL GPC4 2239 genome.wustl.edu 37 X 132458392 132458392 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001448.2 -1 reviewed p.F164L 1.000 93 0% 108 23.1% 19 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Glypican GPC3 2719 genome.wustl.edu 37 X 133087203 133087203 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004484.3 -1 reviewed p.T71A 1.000 384 0% 395 29.1% 4 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Glypican CCDC160 347475 genome.wustl.edu 37 X 133379481 133379481 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001101357.1 +1 provisional p.V217 0.021 75 0% 86 22.1% 1 0% - - - NULL CCDC160 347475 genome.wustl.edu 37 X 133379759 133379759 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001101357.1 +1 provisional p.M310R 0.000 60 0% 48 39.6% 2 0% possibly_damaging(0.47) tolerated(0.28) neutral(0.186) NULL PHF6 84295 genome.wustl.edu 37 X 133547854 133547854 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001015877.1 +1 reviewed p.R196K 1.000 116 0% 155 34.2% 5 0% probably_damaging(0.971) tolerated(0.05) deleterious(0.758) NULL MIR542 664617 genome.wustl.edu 37 X 133675431 133675431 + RNA SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000385050 -1 known NULL 1.000 308 0% 426 34.7% 0 - - - - - FAM122B 159090 genome.wustl.edu 37 X 133922824 133922824 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_145284.5 -1 validated p.S105Y 1.000 111 0% 117 32.5% 4 100% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL MOSPD1 56180 genome.wustl.edu 37 X 134031042 134031042 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_019556.1 -1 provisional p.R85* 1.000 104 0% 149 32.9% 14 0% - - - HMMPfam_Motile_Sperm,superfamily_PapD-like FAM127B 26071 genome.wustl.edu 37 X 134186048 134186048 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001078172.1 -1 validated p.E31K 0.612 85 0% 122 27% 75 0% benign(0.083) tolerated(0.2) neutral(0.055) NULL LOC728470 728470 genome.wustl.edu 37 X 134314204 134314204 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002343844.1 -1 model p.S235Y 0.784 158 0% 148 29.1% 0 - - - - NULL LOC650024 650024 genome.wustl.edu 37 X 134348168 134348168 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_001715421.2 +1 model p.F103 0.019 28 0% 36 30.6% 0 - - - - NULL ZNF75D 7626 genome.wustl.edu 37 X 134421448 134421448 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_007131.3 -1 reviewed p.R385I 1.000 218 0% 251 29.9% 1 0% probably_damaging(1) tolerated(0.17) deleterious(0.559) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 DDX26B 203522 genome.wustl.edu 37 X 134679450 134679450 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_182540.4 +1 validated p.L98V 1.000 142 0% 101 25.7% 3 0% probably_damaging(0.982) tolerated(0.1) deleterious(0.713) superfamily_vWA-like LOC644717 644717 genome.wustl.edu 37 X 134772447 134772447 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002343850.1 -1 model p.A916V 0.000 20 0% 19 42.1% 0 - - - - NULL LOC644717 644717 genome.wustl.edu 37 X 134775036 134775036 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002343850.1 -1 model p.D726Y 0.001 20 0% 16 43.8% 0 - - - - NULL LOC644717 644717 genome.wustl.edu 37 X 134807356 134807356 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002343850.1 -1 model p.E596* 0.000 38 0% 39 59% 0 - - - - NULL LOC644717 644717 genome.wustl.edu 37 X 134811265 134811265 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 XM_002343850.1 -1 model p.L181 0.000 9 0.000 13 0.538 0 - - - - NULL SAGE1 55511 genome.wustl.edu 37 X 134988651 134988651 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018666.2 +1 reviewed p.R226L 0.001 210 0% 301 17.3% 0 - probably_damaging(0.959) tolerated(0.13) deleterious(0.655) NULL MMGT1 93380 genome.wustl.edu 37 X 135053240 135053240 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173470.1 -1 provisional p.E37* 1.000 279 0% 317 38.2% 5 0% - - - HMMPfam_Tmemb_32 MAP7D3 79649 genome.wustl.edu 37 X 135302932 135302932 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024597.3 -1 reviewed p.V826 0.000 182 0% 251 31.5% 2 0% - - - NULL MAP7D3 79649 genome.wustl.edu 37 X 135308094 135308094 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_024597.3 -1 reviewed p.L705V 0.982 504 0% 644 37% 1 0% probably_damaging(0.979) tolerated(0.11) deleterious(0.694) HMMPfam_MAP7 GPR112 139378 genome.wustl.edu 37 X 135405100 135405100 + Silent SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153834.3 +1 reviewed p.T78 0.000 132 0% 164 30.5% 0 - - - - superfamily_ConA_like_lec_gl GPR112 139378 genome.wustl.edu 37 X 135426562 135426562 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153834.3 +1 reviewed p.N233D 0.992 111 0% 97 24.7% 0 - probably_damaging(0.967) deleterious(0.01) deleterious(0.815) NULL GPR112 139378 genome.wustl.edu 37 X 135427322 135427322 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153834.3 +1 reviewed p.R486I 0.948 140 0% 118 42.4% 0 - possibly_damaging(0.901) deleterious(0.01) deleterious(0.762) NULL GPR112 139378 genome.wustl.edu 37 X 135430339 135430339 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153834.3 +1 reviewed p.P1492S 0.502 75 0% 50 28% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL GPR112 139378 genome.wustl.edu 37 X 135430340 135430340 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153834.3 +1 reviewed p.P1492Q 0.607 76 0% 50 40% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL GPR112 139378 genome.wustl.edu 37 X 135431696 135431696 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153834.3 +1 reviewed p.G1944V 0.004 189 0% 127 41.7% 0 - probably_damaging(0.974) deleterious(0.02) deleterious(0.799) NULL GPR112 139378 genome.wustl.edu 37 X 135432464 135432464 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_153834.3 +1 reviewed p.V2200G 0.006 415 0.2% 278 33.5% 0 - possibly_damaging(0.901) deleterious(0) deleterious(0.801) NULL BRS3 680 genome.wustl.edu 37 X 135572434 135572434 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001727.1 +1 validated p.D193N 0.666 193 0% 196 30.1% 0 - benign(0.003) tolerated(0.47) neutral(0.011) HMMPfam_7tm_1,superfamily_SSF81321 HTATSF1 27336 genome.wustl.edu 37 X 135585080 135585080 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014500.4 +1 reviewed p.K238N 0.997 163 0% 204 31.9% 16 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL HTATSF1 27336 genome.wustl.edu 37 X 135593174 135593174 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014500.4 +1 reviewed p.E424* 0.910 68 0% 79 27.8% 17 76.4% - - - NULL VGLL1 51442 genome.wustl.edu 37 X 135632931 135632931 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000440515 +1 known p.E131* 0.723 411 0% 374 32.1% 0 - benign(0) tolerated(0.37) neutral(0.019) NULL ARHGEF6 9459 genome.wustl.edu 37 X 135762983 135762983 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004840.2 -1 reviewed p.Q537H 1.000 149 0% 166 31.3% 1 0% benign(0.001) tolerated(0.47) neutral(0.011) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like ARHGEF6 9459 genome.wustl.edu 37 X 135790890 135790890 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004840.2 -1 reviewed p.F289 0.717 152 0% 176 32.4% 2 0% - - - HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) ARHGEF6 9459 genome.wustl.edu 37 X 135861632 135861632 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004840.2 -1 reviewed p.A64T 1.000 232 0% 347 29.1% 0 - benign(0.004) tolerated(0.08) neutral(0.300) HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain ZIC3 7547 genome.wustl.edu 37 X 136652113 136652113 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_003413.3 +1 reviewed p.P430T 1.000 139 0% 217 35% 0 - possibly_damaging(0.8) tolerated(0.16) neutral(0.360) NULL F9 2158 genome.wustl.edu 37 X 138643737 138643737 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000133.3 +1 reviewed p.R298Q 0.000 230 0% 266 37.2% 0 - benign(0.062) tolerated(0.16) neutral(0.064) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases MCF2 4168 genome.wustl.edu 37 X 138678815 138678815 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001099855.1 -1 reviewed p.R784* 1.000 316 0% 223 37.7% 0 - - - - HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 MCF2 4168 genome.wustl.edu 37 X 138697185 138697185 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001099855.1 -1 reviewed p.K466N 1.000 271 0% 104 27.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ATP11C 286410 genome.wustl.edu 37 X 138820184 138820184 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173694.4 -1 validated p.M1063T 1.000 186 0% 74 33.8% 10 100% possibly_damaging(0.582) tolerated(0.13) neutral(0.453) NULL CXorf66 347487 genome.wustl.edu 37 X 139040347 139040347 + Missense_Mutation SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001013403.2 -1 validated p.K40E 0.001 231 0% 337 33.8% 0 - possibly_damaging(0.936) deleterious(0) deleterious(0.826) NULL SOX3 6658 genome.wustl.edu 37 X 139587064 139587064 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005634.2 -1 reviewed p.A54 0.488 20 0% 19 31.6% 1 100% - - - NULL CDR1 1038 genome.wustl.edu 37 X 139865905 139865905 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004065.2 -1 reviewed p.S209 0.000 373 0% 301 32.6% 0 - - - - NULL MAGEC3 139081 genome.wustl.edu 37 X 140926144 140926144 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138702.1 +1 reviewed p.D15Y 0.002 88 0% 81 38.3% 0 - unknown(0) - - NULL MAGEC3 139081 genome.wustl.edu 37 X 140969522 140969522 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138702.1 +1 reviewed p.I283 0.001 140 0% 180 28.9% 0 - - - - HMMPfam_MAGE MAGEC3 139081 genome.wustl.edu 37 X 140985116 140985116 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138702.1 +1 reviewed p.F524L 0.001 158 0% 242 31.8% 0 - possibly_damaging(0.786) tolerated(0.37) neutral(0.314) HMMPfam_MAGE MAGEC3 139081 genome.wustl.edu 37 X 140985270 140985270 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138702.1 +1 reviewed p.G576W 0.006 182 0% 239 33.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MAGE MAGEC3 139081 genome.wustl.edu 37 X 140985544 140985544 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_138702.1 +1 reviewed p.D620N 0.003 86 0% 85 35.3% 0 - probably_damaging(0.991) tolerated(0.19) deleterious(0.493) NULL MAGEC1 9947 genome.wustl.edu 37 X 140995710 140995710 + Silent SNP G G A rs191655529 by1000genomes TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005462.4 +1 reviewed p.S840 0.017 241 0% 243 29.6% 0 - - - - NULL SPANXN3 139067 genome.wustl.edu 37 X 142596730 142596730 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001009609.2 -1 validated p.D114Y 0.000 313 0% 366 29.8% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL SPANXN3 139067 genome.wustl.edu 37 X 142605155 142605155 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001009609.2 -1 validated p.K22T 0.000 736 0% 915 34.2% 0 - possibly_damaging(0.918) tolerated(0.07) deleterious(0.688) HMMPfam_SPAN-X SLITRK4 139065 genome.wustl.edu 37 X 142718727 142718727 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173078.3 -1 reviewed p.F66L 0.999 43 0% 29 27.6% 0 - benign(0.005) tolerated(1) - superfamily_L domain-like SLITRK4 139065 genome.wustl.edu 37 X 142718732 142718732 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_173078.3 -1 reviewed p.N65H 1.000 50 0% 39 33.3% 0 - probably_damaging(0.953) tolerated(0.49) neutral(0.407) superfamily_L domain-like SPANXN2 494119 genome.wustl.edu 37 X 142795236 142795236 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001009615.1 -1 provisional p.S148P 0.000 499 0% 530 26.6% 0 - unknown(0) tolerated(0.19) - NULL SPANXN2 494119 genome.wustl.edu 37 X 142795367 142795367 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001009615.1 -1 provisional p.S104* 0.002 670 0% 725 25.5% 0 - - - - NULL SPANXN1 494118 genome.wustl.edu 37 X 144329130 144329130 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001009614.2 +1 reviewed p.I8 0.021 806 0% 997 32% 0 - - - - HMMPfam_SPAN-X SPANXN1 494118 genome.wustl.edu 37 X 144337199 144337199 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001009614.2 +1 reviewed p.E28D 0.000 343 0% 503 30.4% 0 - possibly_damaging(0.888) deleterious(0) deleterious(0.792) HMMPfam_SPAN-X SLITRK2 84631 genome.wustl.edu 37 X 144904884 144904884 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001144003.2 +1 reviewed p.R314Q 1.000 92 0% 128 30.5% 0 - probably_damaging(0.961) tolerated(0.26) neutral(0.438) NULL CXorf1 9142 genome.wustl.edu 37 X 144909318 144909318 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004709.2 +1 validated p.F41L 0.000 307 0% 237 27.4% 0 - benign(0) - - NULL CXorf1 9142 genome.wustl.edu 37 X 144909394 144909394 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004709.2 +1 validated p.I67V 0.972 283 0% 211 22.3% 0 - benign(0.055) - - NULL MIR891B 100126304 genome.wustl.edu 37 X 145082572 145082572 + RNA SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000401245 -1 known NULL 0.000 301 0% 371 28.8% 0 - - - - - AFF2 2334 genome.wustl.edu 37 X 147582629 147582629 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002025.3 +1 reviewed p.F4 1.000 204 0% 220 30% 0 - - - - NULL AFF2 2334 genome.wustl.edu 37 X 147743667 147743667 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002025.3 +1 reviewed p.S140Y 0.934 201 0% 271 28% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_AF-4 IDS 3423 genome.wustl.edu 37 X 148564716 148564716 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000202.5 -1 reviewed p.S405F 0.999 46 0% 73 32.9% 28 0% possibly_damaging(0.635) deleterious(0) deleterious(0.666) superfamily_Alkaline phosphatase-like MAGEA11 4110 genome.wustl.edu 37 X 148797686 148797686 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005366.4 +1 reviewed p.F180L 0.029 114 0% 138 32.6% 0 - benign(0) tolerated(0.63) neutral(0.004) NULL MAMLD1 10046 genome.wustl.edu 37 X 149639581 149639581 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005491.3 +1 reviewed p.T579M 0.000 87 0% 120 34.2% 0 - probably_damaging(0.97) deleterious(0.04) deleterious(0.761) NULL HMGB3 3149 genome.wustl.edu 37 X 150154572 150154572 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005342.2 +1 validated p.D67Y 1.000 159 0% 249 32.5% 105 0% possibly_damaging(0.774) deleterious(0) deleterious(0.733) HMMPfam_HMG_box,HMMSmart_HMG,superfamily_HMG-box PRRG3 79057 genome.wustl.edu 37 X 150873844 150873844 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000448324 +1 known p.R83I 0.007 188 0% 285 32.3% 0 - possibly_damaging(0.811) - - NULL CNGA2 1260 genome.wustl.edu 37 X 150912676 150912676 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005140.1 +1 reviewed p.K567N 1.000 148 0% 206 40.3% 0 - probably_damaging(0.98) deleterious(0) deleterious(0.869) HMMSmart_cNMP,superfamily_cNMP_binding GABRE 2564 genome.wustl.edu 37 X 151138740 151138740 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004961.3 -1 reviewed p.R64K 0.000 237 0% 216 34.3% 0 - benign(0.001) tolerated(0.65) neutral(0.003) NULL MAGEA10 4109 genome.wustl.edu 37 X 151303343 151303343 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001011543.1 -1 reviewed p.L250 0.000 146 0% 204 32.8% 0 - - - - HMMPfam_MAGE MAGEA10 4109 genome.wustl.edu 37 X 151303783 151303783 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001011543.1 -1 reviewed p.Q104K 0.000 265 0% 308 35.1% 0 - benign(0.002) tolerated(0.7) neutral(0.002) NULL MIR105-2 406898 genome.wustl.edu 37 X 151562900 151562900 + RNA SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000385083 -1 known NULL 1.000 107 0% 105 21% 0 - - - - - GABRQ 55879 genome.wustl.edu 37 X 151821527 151821527 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018558.2 +1 reviewed p.N561T 0.000 111 0% 170 25.3% 0 - benign(0) tolerated(0.8) neutral(0.001) HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM MAGEA12 4111 genome.wustl.edu 37 X 151900098 151900098 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005367.5 -1 reviewed p.E235K 0.001 333 0% 453 33.6% 0 - possibly_damaging(0.786) tolerated(1) neutral(0.294) HMMPfam_MAGE PNMA3 29944 genome.wustl.edu 37 X 152225899 152225899 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_013364.4 +1 reviewed p.E163* 0.002 77 0% 71 38% 0 - - - - NULL MAGEA1 4100 genome.wustl.edu 37 X 152482132 152482132 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004988.4 -1 reviewed p.F293L 0.003 157 0% 232 29.3% 1 0% benign(0.083) tolerated(0.06) neutral(0.329) NULL ZFP92 139735 genome.wustl.edu 37 X 152684172 152684172 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001136273.1 +1 validated p.K25N 0.990 266 0.4% 419 35.6% 1 0% - - - HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box HAUS7 55559 genome.wustl.edu 37 X 152721101 152721101 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017518.6 -1 reviewed p.D287N 0.709 93 0% 127 32.3% 29 82.7% probably_damaging(0.999) tolerated(0.49) deleterious(0.501) NULL BGN 633 genome.wustl.edu 37 X 152771478 152771478 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001711.4 +1 reviewed p.R170H 0.857 50 0% 94 34% 415 0.4% possibly_damaging(0.88) deleterious(0.01) deleterious(0.749) HMMPfam_LRR_1,superfamily_SSF52058 BGN 633 genome.wustl.edu 37 X 152772329 152772329 + Nonsense_Mutation SNP A A T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001711.4 +1 reviewed p.K240* 1.000 172 0% 258 36% 646 0.1% - - - superfamily_SSF52058 BGN 633 genome.wustl.edu 37 X 152773751 152773751 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001711.4 +1 reviewed p.D319N 1.000 70 0% 100 29% 593 0.1% probably_damaging(1) tolerated(0.05) deleterious(0.845) NULL FAM58A 92002 genome.wustl.edu 37 X 152861527 152861527 + Missense_Mutation SNP A A C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000276345 -1 known p.I75M 0.864 231 0% 419 32% 37 0% probably_damaging(0.991) tolerated(0.09) deleterious(0.740) HMMSmart_CYCLIN,superfamily_Cyclin_like DUSP9 1852 genome.wustl.edu 37 X 152914982 152914982 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001395.2 +1 reviewed p.E223D 0.978 69 0% 79 32.9% 0 - benign(0) tolerated(1) - HMMPfam_DSPc,HMMSmart_DSPc,superfamily_SSF52799 SLC6A8 6535 genome.wustl.edu 37 X 152957439 152957439 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000429147 +1 known p.L35I 0.789 144 0% 267 22.8% 55 0% - - - HMMPfam_SNF SLC6A8 6535 genome.wustl.edu 37 X 152960033 152960033 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005629.3 +1 reviewed p.R514Q 0.987 76 0% 117 38.5% 226 0% probably_damaging(0.999) tolerated(0.08) deleterious(0.790) HMMPfam_SNF BCAP31 10134 genome.wustl.edu 37 X 152988654 152988654 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001139457.1 -1 reviewed p.V83F 1.000 81 0% 180 33.9% 287 0% possibly_damaging(0.826) deleterious(0) deleterious(0.758) HMMPfam_Bap31 ABCD1 215 genome.wustl.edu 37 X 153001660 153001660 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000033.3 +1 reviewed p.L392 1.000 110 0% 141 32.6% 8 0% - - - NULL ABCD1 215 genome.wustl.edu 37 X 153002666 153002666 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000443684 +1 known p.R151H 0.345 54 0% 107 30.8% 7 0% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases PLXNB3 5365 genome.wustl.edu 37 X 153032714 153032714 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005393.2 +1 reviewed p.R144 0.738 43 0% 43 30.2% 0 - - - - HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema PLXNB3 5365 genome.wustl.edu 37 X 153035589 153035589 + Nonsense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005393.2 +1 reviewed p.E558* 0.664 103 0% 157 30.6% 0 - - - - NULL SRPK3 26576 genome.wustl.edu 37 X 153049627 153049627 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_014370.3 +1 reviewed p.S369L 0.039 90 0% 104 39.4% 0 - benign(0.039) tolerated(0.25) neutral(0.039) superfamily_Kinase_like,HMMPfam_Pkinase SRPK3 26576 genome.wustl.edu 37 X 153050591 153050591 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000458681 +1 known p.L94I 0.988 75 0% 78 34.6% 0 - - - - superfamily_Protein kinase-like (PK-like) IDH3G 3421 genome.wustl.edu 37 X 153052538 153052538 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004135.2 -1 reviewed p.E249K 1.000 59 0% 106 40.6% 88 79.5% benign(0.125) tolerated(0.06) neutral(0.333) HMMPfam_Iso_dh,superfamily_SSF53659 IDH3G 3421 genome.wustl.edu 37 X 153053582 153053582 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_004135.2 -1 reviewed p.E119K 1.000 230 0% 330 36.4% 94 0% possibly_damaging(0.68) tolerated(0.41) neutral(0.258) HMMPfam_Iso_dh,superfamily_SSF53659 SSR4 6748 genome.wustl.edu 37 X 153061891 153061891 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_006280.1 +1 reviewed p.E24K 1.000 105 0% 191 34.6% 1655 0% unknown(0) tolerated(0.07) - HMMPfam_TRAP-delta PDZD4 57595 genome.wustl.edu 37 X 153070053 153070053 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_032512.2 -1 provisional p.E355 0.998 39 0% 44 38.6% 0 - - - - NULL AVPR2 554 genome.wustl.edu 37 X 153171047 153171047 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000054.4 +1 reviewed p.L29 0.000 14 0% 18 55.6% 0 - - - - superfamily_Family A G protein-coupled receptor-like ARHGAP4 393 genome.wustl.edu 37 X 153174577 153174577 + Silent SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001666.4 -1 reviewed p.R852 0.148 122 0% 193 33.2% 14 0% - - - NULL ARHGAP4 393 genome.wustl.edu 37 X 153184624 153184624 + Silent SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000418750 -1 known p.L153I 0.042 116 0% 208 28.4% 13 0% - - - NULL HCFC1 3054 genome.wustl.edu 37 X 153216837 153216837 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005334.2 -1 reviewed p.H1827Q 1.000 178 0% 273 31.5% 29 0% possibly_damaging(0.605) tolerated(0.18) neutral(0.266) HMMSmart_SM00060 HCFC1 3054 genome.wustl.edu 37 X 153220851 153220851 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005334.2 -1 reviewed p.G1000D 1.000 93 0% 181 32% 16 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL IRAK1 3654 genome.wustl.edu 37 X 153279717 153279717 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001569.3 -1 reviewed p.E439* 0.943 52 0% 60 20% 23 0% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) MECP2 4204 genome.wustl.edu 37 X 153296409 153296409 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001110792.1 -1 reviewed p.E302 1.000 36 0% 49 30.6% 34 0% - - - NULL OPN1LW 5956 genome.wustl.edu 37 X 153416189 153416189 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_020061.4 +1 reviewed p.V58 0.264 169 0% 236 37.3% 0 - - - - superfamily_SSF81321 OPN1MW 2652 genome.wustl.edu 37 X 153459111 153459111 + Silent SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000513.2 +1 reviewed p.P319 0.858 212 0% 329 33.7% 0 - - - - HMMPfam_7tm_1,PatternScan_OPSIN,superfamily_SSF81321 TKTL1 8277 genome.wustl.edu 37 X 153543543 153543543 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_012253.3 +1 validated p.C295 0.996 165 0% 292 36% 0 - - - - HMMPfam_Transket_pyr,superfamily_Thiamin diphosphate-binding fold (THDP-binding) FLNA 2316 genome.wustl.edu 37 X 153580748 153580748 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001110556.1 -1 reviewed p.I2190 0.542 85 0% 124 29% 534 0% - - - HMMSmart_SM00557,superfamily_E set domains,HMMPfam_Filamin SNORA70 26778 genome.wustl.edu 37 X 153628715 153628715 + RNA SNP T T C novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NR_000011.1 +1 validated NULL 0.953 8 0.000 15 0.267 49 0% - - - - TAZ 6901 genome.wustl.edu 37 X 153640475 153640475 + Silent SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000116.3 +1 reviewed p.I54 1.000 46 0% 55 40% 17 0% - - - HMMPfam_Acyltransferase,superfamily_Glycerol-3-phosphate (1)-acyltransferase TAZ 6901 genome.wustl.edu 37 X 153641610 153641610 + RNA SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NR_024048.1 +1 reviewed NULL 0.473 30 0% 55 38.2% 3 0% - - - - PLXNA3 55558 genome.wustl.edu 37 X 153688732 153688732 + Missense_Mutation SNP C C T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017514.3 +1 reviewed p.P70L 1.000 42 0% 45 35.6% 10 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema PLXNA3 55558 genome.wustl.edu 37 X 153688843 153688843 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017514.3 +1 reviewed p.R107H 1.000 19 0% 29 24.1% 9 0% possibly_damaging(0.939) tolerated(0.06) deleterious(0.707) HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema PLXNA3 55558 genome.wustl.edu 37 X 153689822 153689822 + Silent SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_017514.3 +1 reviewed p.K326 1.000 66 0% 100 40% 12 0% - - - HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema SLC10A3 8273 genome.wustl.edu 37 X 153716396 153716396 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001142392.1 -1 reviewed p.A295V 1.000 57 0% 77 39% 33 81.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SBF CTAG2 30848 genome.wustl.edu 37 X 153880408 153880408 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_172377.3 -1 reviewed p.R180C 0.000 172 0% 272 29.8% 0 - probably_damaging(0.965) deleterious(0) deleterious(0.851) NULL GAB3 139716 genome.wustl.edu 37 X 153927590 153927590 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001081573.1 -1 reviewed p.D442Y 1.000 220 0% 269 13.8% 0 - possibly_damaging(0.937) deleterious(0) deleterious(0.828) NULL DKC1 1736 genome.wustl.edu 37 X 153994631 153994631 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001363.3 +1 reviewed p.C135Y 1.000 117 0% 130 37.7% 44 0% benign(0.011) deleterious(0.01) neutral(0.406) HMMPfam_TruB_N,superfamily_PsdUridine_synth_cat_dom MPP1 4354 genome.wustl.edu 37 X 154007511 154007511 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_002436.3 -1 reviewed p.E448* 1.000 126 0% 168 28.6% 20 0% - - - HMMSmart_SM00072,superfamily_P-loop containing nucleoside triphosphate hydrolases F8 2157 genome.wustl.edu 37 X 154157054 154157054 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000132.3 -1 reviewed p.R1671C 0.000 346 0.3% 364 31.6% 1 0% benign(0.002) deleterious(0.02) neutral(0.383) NULL F8 2157 genome.wustl.edu 37 X 154158579 154158579 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000132.3 -1 reviewed p.F1162L 0.001 62 0% 55 23.6% 0 - benign(0.117) deleterious(0.02) neutral(0.393) NULL F8 2157 genome.wustl.edu 37 X 154158676 154158676 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000132.3 -1 reviewed p.R1130M 0.000 132 0% 119 26.1% 0 - possibly_damaging(0.819) deleterious(0) deleterious(0.754) NULL F8 2157 genome.wustl.edu 37 X 154159114 154159114 + Missense_Mutation SNP G G A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000132.3 -1 reviewed p.S984L 0.000 100 0% 78 41% 0 - benign(0) tolerated(1) - NULL F8 2157 genome.wustl.edu 37 X 154159727 154159727 + Missense_Mutation SNP T T G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000132.3 -1 reviewed p.I780L 0.001 419 0% 493 29.8% 0 - benign(0.009) tolerated(0.16) neutral(0.060) NULL F8 2157 genome.wustl.edu 37 X 154159916 154159916 + Missense_Mutation SNP G G A rs137852435 TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_000132.3 -1 reviewed p.R717W 1.000 132 0% 133 29.3% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) PatternScan_MULTICOPPER_OXIDASE1,superfamily_Cupredoxins MTCP1NB 100272147 genome.wustl.edu 37 X 154290175 154290175 + Silent SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000369479 -1 known p.C50 0.998 237 0.4% 322 32.9% 44 0% - - - HMMPfam_DUF1903,superfamily_p8-MTCP1 RAB39B 116442 genome.wustl.edu 37 X 154490101 154490101 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_171998.2 -1 reviewed p.R210I 1.000 112 0% 188 27.1% 1 0% possibly_damaging(0.708) tolerated(0.08) deleterious(0.555) HMMSmart_SM00176,superfamily_P-loop containing nucleoside triphosphate hydrolases CLIC2 1193 genome.wustl.edu 37 X 154563709 154563709 + Missense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_001289.4 -1 reviewed p.V10L 0.002 156 0% 87 39.1% 2 0% benign(0) tolerated(0.28) neutral(0.032) NULL TMLHE 55217 genome.wustl.edu 37 X 154736575 154736575 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018196.3 -1 reviewed p.E327* 1.000 200 0% 91 33% 25 12% - - - HMMPfam_TauD,superfamily_Clavaminate synthase-like TMLHE 55217 genome.wustl.edu 37 X 154736729 154736729 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_018196.3 -1 reviewed p.F275L 1.000 132 0% 67 29.9% 10 60% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TauD,superfamily_Clavaminate synthase-like VAMP7 6845 genome.wustl.edu 37 X 155149505 155149505 + Missense_Mutation SNP G G T novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 NM_005638.4 +1 validated p.L154F 1.000 285 0% 331 29% 11 81.8% probably_damaging(1) tolerated(0.05) deleterious(0.845) HMMPfam_Synaptobrevin,PatternScan_SYNAPTOBREVIN VAMP7 6845 genome.wustl.edu 37 X 155171618 155171618 + Missense_Mutation SNP A A G novel TCGA-B5-A0JY-01A-11D-A10B-09 TCGA-B5-A0JY-10A-01D-A10O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b7c3959-a2be-493e-abe2-ab19eecb946f ccebab6c-dffb-431e-9bce-bdd0c824ebf4 ENST00000262640 +1 known p.K200E 0.728 491 0% 446 32.1% 22 0% unknown(0) - - NULL