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 SAMD11 148398 genome.wustl.edu 37 1 874501 874501 + Missense_Mutation SNP C C T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_152486.2 +1 validated p.S171L 1.000 38 0% 53 45.3% 8 62.5% benign(0.007) deleterious(0.01) neutral(0.406) NULL CHD5 26038 genome.wustl.edu 37 1 6212479 6212479 + Missense_Mutation SNP C C G novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_015557.1 -1 provisional p.G288A 1.000 189 0% 227 32.2% 0 - probably_damaging(0.978) tolerated(0.63) neutral(0.424) NULL MTOR 2475 genome.wustl.edu 37 1 11184573 11184573 + Missense_Mutation SNP G G T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_004958.3 -1 reviewed p.S2215Y 1.000 284 0% 240 31.7% 49 53% benign(0.125) deleterious(0.01) neutral(0.416) HMMPfam_PI3_PI4_kinase,HMMSmart_PI3Kc,superfamily_Kinase_like,superfamily_ARM-type_fold C1orf38 9473 genome.wustl.edu 37 1 28208885 28208885 + Silent SNP G G A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_001105556.1 +1 validated p.V350 1.000 29 0% 32 34.4% 2 0% - - - NULL L1TD1 54596 genome.wustl.edu 37 1 62676431 62676431 + Missense_Mutation SNP G G A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_019079.4 +1 validated p.R662K 0.000 144 0% 104 30.8% 0 - possibly_damaging(0.945) deleterious(0.03) deleterious(0.754) HMMPfam_Transposase_22 BCAR3 8412 genome.wustl.edu 37 1 94140206 94140206 + Missense_Mutation SNP G G A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_003567.2 -1 reviewed p.P94L 0.823 129 0% 126 28.6% 15 26.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL IGSF3 3321 genome.wustl.edu 37 1 117131533 117131533 + Silent SNP G G A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_001542.2 -1 validated p.Y761 0.991 110 0% 122 30.3% 6 66.6% - - - HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 ASH1L 55870 genome.wustl.edu 37 1 155449016 155449016 + Missense_Mutation SNP C C A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_018489.2 -1 reviewed p.E1215D 1.000 364 0% 291 25.8% 1 100% probably_damaging(0.971) deleterious(0) deleterious(0.857) NULL HAPLN2 60484 genome.wustl.edu 37 1 156593352 156593352 + Missense_Mutation SNP G G A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_021817.2 +1 validated p.A24T 0.065 206 0% 186 29% 0 - benign(0) tolerated(0.49) neutral(0.011) HMMPfam_V-set ARHGEF11 9826 genome.wustl.edu 37 1 156905842 156905842 + Missense_Mutation SNP C C T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_198236.1 -1 reviewed p.A1547T 0.000 209 1% 225 30.2% 22 13.6% benign(0) tolerated(1) - NULL APCS 325 genome.wustl.edu 37 1 159558305 159558305 + Missense_Mutation SNP G G A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_001639.3 +1 reviewed p.G160E 0.472 399 0% 397 32.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pentaxin,HMMSmart_PTX,superfamily_ConA_like_lec_gl UAP1 6675 genome.wustl.edu 37 1 162558605 162558605 + Missense_Mutation SNP A A G novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_003115.4 +1 validated p.D384G 1.000 207 0% 160 22.5% 28 35.7% possibly_damaging(0.897) deleterious(0) deleterious(0.798) HMMPfam_UDPGP,superfamily_Nucleotide-diphospho-sugar transferases PRG4 10216 genome.wustl.edu 37 1 186270797 186270797 + Missense_Mutation SNP G G T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_005807.3 +1 reviewed p.K91N 0.018 307 0% 341 33.7% 0 - unknown(0) - - HMMPfam_Somatomedin_B,HMMSmart_SM00201,PatternScan_SMB_1,superfamily_Somatomedin B domain PDC 5132 genome.wustl.edu 37 1 186413403 186413403 + Missense_Mutation SNP G G A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_002597.3 -1 reviewed p.A150V 0.989 216 0% 176 36.9% 0 - benign(0.154) tolerated(0.05) neutral(0.359) HMMPfam_Phosducin,superfamily_Thiordxn-like_fd CFHR3 10878 genome.wustl.edu 37 1 196748359 196748359 + Nonsense_Mutation SNP C C A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_021023.5 +1 reviewed p.Y42* 0.053 272 0% 298 31.2% 4 0% - - - HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module PIGR 5284 genome.wustl.edu 37 1 207107919 207107919 + Silent SNP G G A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_002644.3 -1 reviewed p.F517 0.000 149 0% 124 27.4% 54 42.5% - - - HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 BPNT1 10380 genome.wustl.edu 37 1 220253146 220253146 + Missense_Mutation SNP C C T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_006085.4 -1 validated p.A15T 0.987 219 0% 244 23.8% 18 55.5% benign(0.192) deleterious(0.04) neutral(0.367) HMMPfam_Inositol_P,superfamily_Carbohydrate phosphatase TLR5 7100 genome.wustl.edu 37 1 223284895 223284895 + Silent SNP G G T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_003268.5 -1 reviewed p.L493 0.001 178 0% 142 28.9% 0 - - - - superfamily_SSF52058 HEATR1 55127 genome.wustl.edu 37 1 236759283 236759283 + Missense_Mutation SNP G G A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_018072.4 -1 validated p.S269F 1.000 232 0% 222 26.6% 2 50% possibly_damaging(0.926) tolerated(0.08) deleterious(0.674) NULL OR2M7 391196 genome.wustl.edu 37 1 248487867 248487867 + Missense_Mutation SNP C C T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_001004691.1 -1 provisional p.A2T 0.854 328 0% 309 26.9% 0 - benign(0.115) tolerated(0.34) neutral(0.032) superfamily_SSF81321 CAPN13 92291 genome.wustl.edu 37 2 31010118 31010118 + Missense_Mutation SNP C C T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_144575.2 -1 validated p.R25Q 0.071 114 0% 131 23.7% 1 0% possibly_damaging(0.64) deleterious(0) deleterious(0.668) HMMSmart_SM00230,superfamily_Cysteine proteinases SLC8A1 6546 genome.wustl.edu 37 2 40366800 40366800 + Silent SNP G G A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 ENST00000359719 -1 known p.R169* 0.606 124 0% 146 26% 1 0% - - - NULL FAM161A 84140 genome.wustl.edu 37 2 62053629 62053629 + Silent SNP C C T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_032180.2 -1 validated p.E648 0.996 648 0.2% 572 30.6% 1 0% - - - NULL GNLY 10578 genome.wustl.edu 37 2 85924678 85924678 + Missense_Mutation SNP G G A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_006433.3 +1 reviewed p.R102Q 0.000 79 0% 96 32.3% 42 0% benign(0) tolerated(0.39) neutral(0.016) HMMSmart_SM00741,superfamily_Saposin IGKV1-16 28938 genome.wustl.edu 37 2 89399420 89399420 + Missense_Mutation SNP G G T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 ENST00000479981 -1 known p.L95I 1.000 436 0% 419 26.3% 4 0% possibly_damaging(0.898) deleterious(0) deleterious(0.799) HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin CNTNAP5 129684 genome.wustl.edu 37 2 125660460 125660460 + Missense_Mutation SNP G G T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_130773.2 +1 reviewed p.E1145D 0.563 147 0% 123 29.3% 0 - benign(0.006) tolerated(0.17) neutral(0.059) HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 KCNJ3 3760 genome.wustl.edu 37 2 155711635 155711635 + Missense_Mutation SNP G G A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_002239.2 +1 reviewed p.R439Q 1.000 81 1.2% 67 34.3% 0 - benign(0.333) deleterious(0.01) deleterious(0.510) NULL ACVR1 90 genome.wustl.edu 37 2 158630626 158630626 + Missense_Mutation SNP C C T rs121912678 TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_001105.4 -1 reviewed p.R206H 1.000 126 0% 164 35.4% 20 30% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TGF_beta_GS,HMMSmart_GS,superfamily_Kinase_like XIRP2 129446 genome.wustl.edu 37 2 168103889 168103889 + Missense_Mutation SNP C C A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_152381.4 +1 validated p.T1996N 0.000 64 0% 50 32% 0 - benign(0.004) tolerated(0.16) neutral(0.059) NULL HNRNPA3 220988 genome.wustl.edu 37 2 178080756 178080756 + Silent SNP T T C novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_194247.2 +1 validated p.G131 1.000 398 0.3% 321 32.4% 139 48.2% - - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD TTN 7273 genome.wustl.edu 37 2 179436919 179436919 + Missense_Mutation SNP C C T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 ENST00000356127 -1 known p.R22077Q 1.000 214 0.5% 203 30.5% 0 - possibly_damaging(0.916) - - HMMPfam_fn3,HMMSmart_SM00060 GULP1 51454 genome.wustl.edu 37 2 189406036 189406036 + Silent SNP C C T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_016315.2 +1 validated p.S130 0.936 290 0% 299 28.8% 3 33.3% - - - HMMPfam_PID,HMMSmart_SM00462,superfamily_PH domain-like DNAJB3 414061 genome.wustl.edu 37 2 234652198 234652198 + Missense_Mutation SNP A A C novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_001001394.3 -1 validated p.I122S 0.337 43 0% 40 25% 0 - - - - superfamily_DnaJ_N CHL1 10752 genome.wustl.edu 37 3 383608 383608 + Silent SNP C C T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_006614.2 +1 reviewed p.I174 0.001 123 0% 140 34.3% 0 - - - - HMMSmart_SM00409,superfamily_Immunoglobulin CNTN6 27255 genome.wustl.edu 37 3 1269599 1269599 + Missense_Mutation SNP G G T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_014461.2 +1 reviewed p.D94Y 1.000 249 0% 228 33.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 ITPR1 3708 genome.wustl.edu 37 3 4856776 4856776 + Missense_Mutation SNP T T C novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_001099952.2 +1 reviewed p.F2533L 1.000 434 0% 497 25.4% 1 0% probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMPfam_Ion_trans ITPR1 3708 genome.wustl.edu 37 3 4878583 4878583 + Silent SNP G G A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_001099952.2 +1 reviewed p.T2670 0.244 100 0% 82 28% 3 33.3% - - - NULL CTNNB1 1499 genome.wustl.edu 37 3 41266097 41266097 + Missense_Mutation SNP G G A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_001098209.1 +1 reviewed p.D32N 1.000 98 0% 102 28.4% 111 41.4% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SMARCC1 6599 genome.wustl.edu 37 3 47651718 47651759 + In_Frame_Del DEL GCTGTTCCATTTGCTGTCGTGCTCGTAATTCAGCATACTTCA GCTGTTCCATTTGCTGTCGTGCTCGTAATTCAGCATACTTCA - novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 GCTGTTCCATTTGCTGTCGTGCTCGTAATTCAGCATACTTCA GCTGTTCCATTTGCTGTCGTGCTCGTAATTCAGCATACTTCA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_003074.3 -1 validated p.LKYAELRARQQMEQ947in_frame_del 1.000:1.000:1.000:1.000:0.932:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.387:0.979:0.975:0.800:0.998:1.000:0.914:0.973:0.973:0.261:0.838:0.837:0.843:0.997:0.998:0.003:0.999:0.999:0.684:0.997:1.000:0.996:1.000:1.000:0.989:1.000 - - - - - - - - - NULL OR5H14 403273 genome.wustl.edu 37 3 97869154 97869154 + Missense_Mutation SNP G G T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_001005514.1 +1 provisional p.D309Y 0.015 151 0% 101 23.8% 0 - benign(0.006) deleterious(0.02) neutral(0.383) NULL GOLGB1 2804 genome.wustl.edu 37 3 121411056 121411056 + Missense_Mutation SNP T T A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_004487.3 -1 validated p.K2380N 0.997 219 0% 212 29.2% 8 50% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL C3orf56 285311 genome.wustl.edu 37 3 126916433 126916434 + RNA INS - - TTC rs10623171 byCluster TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 XR_078289.1 +1 model NULL 0.043:0.029 - - - - - - - - - - MED12L 116931 genome.wustl.edu 37 3 151105898 151105898 + Missense_Mutation SNP A A C novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_053002.4 +1 reviewed p.T1762P 0.000 144 0% 144 27.8% 0 - benign(0.123) tolerated(0.21) neutral(0.054) NULL BCHE 590 genome.wustl.edu 37 3 165547484 165547484 + Missense_Mutation SNP G G T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_000055.2 -1 reviewed p.F446L 0.999 168 0% 145 33.8% 1 0% benign(0.003) tolerated(0.3) neutral(0.029) HMMPfam_COesterase,superfamily_SSF53474 NLGN1 22871 genome.wustl.edu 37 3 173998307 173998307 + Missense_Mutation SNP C C A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_014932.2 +1 reviewed p.F562L 1.000 192 0% 156 23.1% 0 - probably_damaging(0.993) tolerated(0.14) deleterious(0.700) HMMPfam_COesterase,superfamily_SSF53474 PIK3CA 5290 genome.wustl.edu 37 3 178916876 178916876 + Missense_Mutation SNP G G A rs121913287 TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_006218.2 +1 reviewed p.R88Q 1.000 181 0% 157 25.5% 2 0% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_PI3K_p85B,HMMSmart_PI3K_p85B PIK3CA 5290 genome.wustl.edu 37 3 178936095 178936095 + Missense_Mutation SNP A A C novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_006218.2 +1 reviewed p.Q546P 1.000 222 0% 199 21.6% 1 0% probably_damaging(0.999) tolerated(0.05) deleterious(0.836) HMMPfam_PI3Ka,HMMSmart_PI3Ka,superfamily_ARM-type_fold BOD1L 259282 genome.wustl.edu 37 4 13602068 13602068 + Silent SNP G G A rs139854434 by1000genomes TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_148894.2 -1 validated p.F2152 0.011 72 0% 75 21.3% 5 40% - - - superfamily_SSF81995 POLR2B 5431 genome.wustl.edu 37 4 57891616 57891616 + Missense_Mutation SNP T T C novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_000938.1 +1 reviewed p.L1051S 1.000 326 0% 322 25.5% 84 41.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RNA_pol_Rpb2_6,superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase ENAM 10117 genome.wustl.edu 37 4 71507896 71507896 + Silent SNP G G A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_031889.2 +1 reviewed p.T251 0.755 286 0% 288 25% 0 - - - - NULL MOB1B 92597 genome.wustl.edu 37 4 71824758 71824758 + Splice_Site SNP G G A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_173468.2 +1 reviewed e2+1 1.000 256 0% 213 32.4% 0 - - - - - GC 2638 genome.wustl.edu 37 4 72620766 72620766 + Missense_Mutation SNP G G A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_000583.2 -1 reviewed p.L365F 0.045 327 0% 331 28.4% 0 - benign(0.239) tolerated(0.59) neutral(0.029) superfamily_Serum albumin-like,HMMPfam_Serum_albumin,HMMSmart_SM00103 NAA11 84779 genome.wustl.edu 37 4 80246556 80246556 + Missense_Mutation SNP C C T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_032693.2 -1 validated p.R159K 0.818 109 0% 121 30.6% 0 - benign(0.001) tolerated(0.69) neutral(0.002) NULL PRKG2 5593 genome.wustl.edu 37 4 82013596 82013596 + Missense_Mutation SNP C C A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_006259.1 -1 provisional p.G713C 1.000 162 0% 144 27.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_S_TK_X,superfamily_Kinase_like KLHL8 57563 genome.wustl.edu 37 4 88084715 88084715 + Nonsense_Mutation SNP G G A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_020803.3 -1 validated p.R607* 1.000 218 0% 236 36.9% 15 33.3% - - - NULL ADH1B 125 genome.wustl.edu 37 4 100232704 100232704 + Missense_Mutation SNP C C T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_000668.4 -1 reviewed p.R313H 1.000 298 0% 358 26.8% 0 - probably_damaging(0.99) deleterious(0.03) deleterious(0.806) HMMPfam_ADH_zinc_N,superfamily_NAD(P)-binding Rossmann-fold domains TRPC3 7222 genome.wustl.edu 37 4 122824087 122824087 + Nonsense_Mutation SNP G G A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_001130698.1 -1 validated p.R795* 0.998 343 0% 320 24.1% 5 0% - - - NULL FAT4 79633 genome.wustl.edu 37 4 126373479 126373479 + Missense_Mutation SNP C C A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_024582.4 +1 validated p.H3770N 0.000 138 0% 100 27% 0 - benign(0) tolerated(0.59) neutral(0.004) NULL PCDH10 57575 genome.wustl.edu 37 4 134071914 134071914 + Nonsense_Mutation SNP G G T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_032961.1 +1 reviewed p.G207* 1.000 17 0% 24 33.3% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like CLGN 1047 genome.wustl.edu 37 4 141313527 141313527 + Silent SNP T T C novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_001130675.1 -1 reviewed p.K499 0.998 520 0% 390 30.8% 18 44.4% - - - NULL MARCH1 55016 genome.wustl.edu 37 4 164775227 164775227 + Silent SNP C C T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 ENST00000514618 -1 known p.T19 0.965 429 0% 437 30.2% 0 - - - - NULL PLEKHG4B 153478 genome.wustl.edu 37 5 161944 161944 + Missense_Mutation SNP G G A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_052909.3 +1 validated p.R489H 0.000 83 0% 95 40% 2 50% benign(0.136) deleterious(0.01) neutral(0.417) NULL MYO10 4651 genome.wustl.edu 37 5 16780707 16780707 + Missense_Mutation SNP A A G novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_012334.2 -1 validated p.V251A 1.000 374 0% 368 27.2% 5 20% probably_damaging(0.992) tolerated(0.05) deleterious(0.793) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 EMB 133418 genome.wustl.edu 37 5 49699234 49699234 + Missense_Mutation SNP C C T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_198449.2 -1 reviewed p.E219K 1.000 282 0% 272 29.4% 4 0% possibly_damaging(0.676) tolerated(0.51) neutral(0.249) HMMSmart_SM00409,superfamily_Immunoglobulin MRPS27 23107 genome.wustl.edu 37 5 71593475 71593475 + Missense_Mutation SNP G G T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_015084.2 -1 reviewed p.S69Y 1.000 188 0% 113 33.6% 19 36.8% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_MRP-S27 AFAP1L1 134265 genome.wustl.edu 37 5 148687123 148687123 + Missense_Mutation SNP C C T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_152406.2 +1 validated p.R232C 1.000 38 0% 46 21.7% 7 14.2% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like LOC100289372 100289372 genome.wustl.edu 37 5 175956634 175956634 + Missense_Mutation SNP G G A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 XM_002342583.1 +1 model p.V59I 1.000 51 0% 60 28.3% 26 38.4% - - - NULL ADTRP 84830 genome.wustl.edu 37 6 11778885 11778885 + Silent SNP G G T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_001143948.1 -1 validated p.I36 0.001 571 0% 558 26.5% 0 - - - - NULL HIST1H3E 8353 genome.wustl.edu 37 6 26225387 26225387 + Missense_Mutation SNP C C T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_003532.2 +1 reviewed p.A2V 0.995 47 0% 34 47.1% 0 - probably_damaging(0.981) - - superfamily_Histone-fold SRF 6722 genome.wustl.edu 37 6 43141804 43141804 + Missense_Mutation SNP G G T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_003131.2 +1 reviewed p.D245Y 1.000 292 0% 334 24.9% 26 34.6% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL EYS 346007 genome.wustl.edu 37 6 65300721 65300721 + Missense_Mutation SNP T T G novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_001142800.1 -1 reviewed p.N1680T 0.004 215 0% 118 28.8% 0 - possibly_damaging(0.615) - - superfamily_Concanavalin A-like lectins/glucanases MICAL1 64780 genome.wustl.edu 37 6 109774938 109774938 + Silent SNP G G A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_022765.3 -1 validated p.N123 0.501 18 0% 34 17.6% 7 42.8% - - - superfamily_FAD/NAD(P)-binding domain REV3L 5980 genome.wustl.edu 37 6 111694064 111694064 + Missense_Mutation SNP C C T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_002912.3 -1 validated p.V1832M 1.000 272 0.4% 251 33.9% 5 20% benign(0.057) tolerated(0.06) neutral(0.326) superfamily_Ribonuclease H-like HS3ST5 222537 genome.wustl.edu 37 6 114378562 114378562 + Silent SNP G G T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_153612.3 -1 validated p.I300 1.000 184 0% 128 25.8% 0 - - - - HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases UTRN 7402 genome.wustl.edu 37 6 145069431 145069431 + Missense_Mutation SNP A A T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_007124.2 +1 reviewed p.K2663N 0.997 137 0% 104 32.7% 10 40% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) HMMSmart_SPEC,superfamily_Spectrin SMOC2 64094 genome.wustl.edu 37 6 169053814 169053814 + Silent SNP C C T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_022138.2 +1 reviewed p.D408 0.993 270 0% 242 31.4% 4 0% - - - HMMSmart_EFh,PatternScan_EF_HAND_1,HMMPfam_SPARC_Ca_bdg,superfamily_SSF47473 LOC100132308 100132308 genome.wustl.edu 37 7 63020567 63020567 + Missense_Mutation SNP G G A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 XM_001715240.2 +1 model p.M239I 0.632 61 0% 82 11% 0 - - - - HMMPfam_Nucleoside_tran BCL7B 9275 genome.wustl.edu 37 7 72957958 72957958 + Missense_Mutation SNP G G A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_001707.2 -1 reviewed p.S62L 1.000 224 0.4% 230 26.1% 22 27.2% benign(0.073) tolerated(0.21) neutral(0.049) NULL PCLO 27445 genome.wustl.edu 37 7 82784169 82784169 + Missense_Mutation SNP T T G novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_033026.5 -1 validated p.E596D 1.000 386 0.3% 439 32.1% 0 - probably_damaging(0.971) - - HMMPfam_zf-piccolo,superfamily_FYVE/PHD zinc finger SEMA3E 9723 genome.wustl.edu 37 7 83014710 83014710 + Missense_Mutation SNP C C T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_012431.2 -1 reviewed p.G592D 1.000 328 0% 298 31.9% 23 43.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_IG,superfamily_SSF48726 DBF4 10926 genome.wustl.edu 37 7 87516701 87516701 + Missense_Mutation SNP C C A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_006716.3 +1 validated p.L170I 1.000 422 0% 276 30.4% 3 33.3% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL C7orf62 219557 genome.wustl.edu 37 7 88423944 88423944 + Missense_Mutation SNP C C T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_152706.2 -1 predicted p.D105N 0.008 183 0% 143 30.8% 0 - benign(0.014) tolerated(0.26) neutral(0.035) NULL SMURF1 57154 genome.wustl.edu 37 7 98649053 98649053 + Missense_Mutation SNP T T C novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_020429.1 -1 reviewed p.T245A 1.000 216 0% 247 29.6% 1 0% possibly_damaging(0.846) tolerated(0.16) neutral(0.385) HMMPfam_WW,HMMSmart_SM00456,superfamily_WW domain C7orf61 402573 genome.wustl.edu 37 7 100061381 100061381 + Missense_Mutation SNP G G T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 ENST00000418952 -1 known p.S39Y 0.000 31 0% 20 20% 0 - unknown(0) - - NULL LOC647030 647030 genome.wustl.edu 37 7 131347341 131347341 + RNA SNP G G A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 XR_017470.3 -1 model NULL 1.000 71 0% 54 38.9% 0 - - - - - NUP205 23165 genome.wustl.edu 37 7 135323425 135323425 + Missense_Mutation SNP C C T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_015135.2 +1 validated p.R1796W 0.982 346 0% 360 28.3% 42 38% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL TNKS 8658 genome.wustl.edu 37 8 9567464 9567464 + Splice_Site SNP G G A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_003747.2 +1 validated e10-1 1.000 497 0.2% 501 26.9% 2 0% - - - - SLC35G5 83650 genome.wustl.edu 37 8 11189510 11189510 + Missense_Mutation SNP T T C novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_054028.1 +1 reviewed p.Y299H 0.364 250 0% 302 25.8% 0 - benign(0.029) tolerated(0.36) neutral(0.022) superfamily_SSF103481 XPO7 23039 genome.wustl.edu 37 8 21827684 21827684 + Missense_Mutation SNP C C T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_001100161.1 +1 validated p.R97W 0.999 168 0% 136 29.4% 8 87.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_ARM repeat CHRNA2 1135 genome.wustl.edu 37 8 27321086 27321086 + Missense_Mutation SNP C C T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_000742.3 -1 reviewed p.D292N 0.994 469 0.6% 632 30.4% 0 - possibly_damaging(0.728) tolerated(0.07) deleterious(0.584) HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore ENSG00000206975 0 genome.wustl.edu 37 8 57829680 57829680 + RNA SNP G G A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 ENST00000384248 +1 novel NULL 0.210 26 0% 82 23.2% 0 - - - - - LOC392232 392232 genome.wustl.edu 37 8 73150703 73150703 + RNA SNP A A C novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 XR_037363.2 -1 model NULL 0.555 25 0% 56 23.2% 0 - - - - - RUNX1T1 862 genome.wustl.edu 37 8 93003954 93003954 + Missense_Mutation SNP A A C novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_175634.1 -1 reviewed p.L302V 1.000 400 0% 447 28% 0 - probably_damaging(0.999) deleterious(0.05) deleterious(0.836) NULL CSMD3 114788 genome.wustl.edu 37 8 113243804 113243804 + Missense_Mutation SNP C C A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_198123.1 -1 validated p.D3600Y 1.000 324 0% 301 30.9% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL CSMD3 114788 genome.wustl.edu 37 8 113277716 113277716 + Silent SNP C C T rs183191388 by1000genomes TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_198123.1 -1 validated p.T3204 0.517 290 0.3% 332 33.4% 0 - - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CSMD3 114788 genome.wustl.edu 37 8 113650962 113650962 + Missense_Mutation SNP A A C novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_198123.1 -1 validated p.F1163L 1.000 195 0% 141 30.5% 0 - possibly_damaging(0.484) tolerated(0.62) neutral(0.165) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain KCNQ3 3786 genome.wustl.edu 37 8 133182596 133182596 + Missense_Mutation SNP G G T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_004519.2 -1 reviewed p.S407Y 1.000 86 0% 102 27.5% 0 - possibly_damaging(0.885) deleterious(0.01) deleterious(0.752) NULL ACO1 48 genome.wustl.edu 37 9 32420964 32420964 + Silent SNP C C T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_002197.2 +1 reviewed p.Y303 0.884 201 0% 208 32.7% 3 33.3% - - - HMMPfam_Aconitase,superfamily_Aconitase iron-sulfur domain ANKRD18A 253650 genome.wustl.edu 37 9 38588573 38588573 + Missense_Mutation SNP G G A rs139070805 by1000genomes TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 ENST00000399703 -1 known p.R698C 0.280 416 0% 233 24.9% 1 100% probably_damaging(0.994) tolerated(0.21) deleterious(0.496) NULL ASPN 54829 genome.wustl.edu 37 9 95219620 95219620 + Missense_Mutation SNP G G A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_017680.3 -1 validated p.R365C 1.000 342 0% 288 28.5% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TDRD7 23424 genome.wustl.edu 37 9 100257990 100257990 + Missense_Mutation SNP G G A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_014290.2 +1 validated p.R1041Q 1.000 157 0% 133 20.3% 14 42.8% probably_damaging(1) tolerated(0.08) deleterious(0.800) NULL GABBR2 9568 genome.wustl.edu 37 9 101258725 101258725 + Silent SNP G G A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_005458.7 -1 reviewed p.N234 0.965 246 0% 252 26.6% 0 - - - - HMMPfam_ANF_receptor,superfamily_SSF53822 ZNF189 7743 genome.wustl.edu 37 9 104170485 104170485 + Missense_Mutation SNP G G T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_003452.2 +1 validated p.E145D 1.000 204 0% 176 30.7% 6 50% benign(0.013) tolerated(0.06) neutral(0.323) superfamily_C2H2 and C2HC zinc fingers C5 727 genome.wustl.edu 37 9 123805331 123805331 + Silent SNP T T C novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_001735.2 -1 reviewed p.G124 1.000 325 0% 250 32.4% 0 - - - - HMMPfam_A2M_N GTF3C5 9328 genome.wustl.edu 37 9 135926248 135926248 + Silent SNP C C A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_001122823.1 +1 validated p.I217 1.000 47 0% 66 31.8% 41 31.7% - - - HMMPfam_Tau95 MCM10 55388 genome.wustl.edu 37 10 13231045 13231045 + Silent SNP C C T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_182751.2 +1 validated p.Y461 0.130 64 0% 65 24.6% 2 50% - - - NULL ARHGAP22 58504 genome.wustl.edu 37 10 49654641 49654641 + Missense_Mutation SNP G G C novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_021226.2 -1 validated p.D630E 0.153 430 0.2% 508 28.3% 1 100% benign(0.059) tolerated(0.64) neutral(0.007) NULL PCDH15 65217 genome.wustl.edu 37 10 55569043 55569043 + Missense_Mutation SNP C C A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_001142769.1 -1 reviewed p.E1594D 0.015 446 0% 368 24.5% 0 - possibly_damaging(0.857) deleterious(0) deleterious(0.776) NULL PCDH15 65217 genome.wustl.edu 37 10 55581776 55581776 + Nonsense_Mutation SNP C C A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_001142763.1 -1 reviewed p.E1911* 1.000 660 0% 601 27.5% 0 - - - - NULL MAT1A 4143 genome.wustl.edu 37 10 82034887 82034887 + Silent SNP A A G novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_000429.2 -1 reviewed p.G279 0.000 23 0% 22 27.3% 0 - - - - HMMPfam_S-AdoMet_synt_C,PatternScan_ADOMET_SYNTHETASE_2,superfamily_S-AdoMet_synt NRG3 10718 genome.wustl.edu 37 10 84745220 84745220 + Silent SNP C C T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_001010848.3 +1 reviewed p.Y650 0.993 106 0% 92 32.6% 0 - - - - NULL CPXM2 119587 genome.wustl.edu 37 10 125539688 125539688 + Missense_Mutation SNP G G A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_198148.2 -1 validated p.R325C 1.000 421 0% 432 28.7% 4 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Peptidase_M14,superfamily_Zn-dependent exopeptidases BRSK2 9024 genome.wustl.edu 37 11 1459596 1459596 + Missense_Mutation SNP G G A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_003957.2 +1 validated p.D83N 1.000 98 0% 135 22.2% 0 - possibly_damaging(0.952) deleterious(0) deleterious(0.840) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase OR51A7 119687 genome.wustl.edu 37 11 4929447 4929447 + Missense_Mutation SNP C C T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_001004749.1 +1 provisional p.P283L 1.000 285 0% 314 29% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 OR52N2 390077 genome.wustl.edu 37 11 5842155 5842155 + Missense_Mutation SNP A A G novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_001005174.1 +1 provisional p.N197S 1.000 694 0% 778 28.8% 0 - benign(0.402) deleterious(0.02) deleterious(0.512) HMMPfam_7tm_1,superfamily_SSF81321 NAV2 89797 genome.wustl.edu 37 11 19735305 19735305 + Missense_Mutation SNP G G T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_182964.5 +1 validated p.A22S 0.993 18 0% 24 20.8% 6 66.6% benign(0) tolerated(0.05) neutral(0.345) superfamily_Calponin-homology domain CH-domain NAV2 89797 genome.wustl.edu 37 11 19735306 19735306 + Missense_Mutation SNP C C T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_182964.5 +1 validated p.A22V 0.578 18 0% 25 20% 7 57.1% benign(0.066) tolerated(0.09) neutral(0.301) superfamily_Calponin-homology domain CH-domain ENSG00000181950 0 genome.wustl.edu 37 11 55234946 55234946 + Missense_Mutation SNP G G T rs142314147 by1000genomes TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 ENST00000314689 +1 known p.A139S 1.000 78 0% 79 32.9% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR5F1 338674 genome.wustl.edu 37 11 55761564 55761564 + Missense_Mutation SNP C C T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_003697.1 -1 provisional p.D180N 0.999 79 0% 85 25.9% 0 - benign(0.01) deleterious(0.01) neutral(0.406) HMMPfam_7tm_1,superfamily_SSF81321 RTN4RL2 349667 genome.wustl.edu 37 11 57235276 57235276 + Missense_Mutation SNP C C T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_178570.1 +1 provisional p.R76W 1.000 200 0% 189 36.5% 5 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_SSF52058 TCN1 6947 genome.wustl.edu 37 11 59631480 59631480 + Silent SNP G G A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_001062.3 -1 reviewed p.S53 0.000 374 0% 364 36% 1 100% - - - HMMPfam_Cobalamin_bind CHRDL2 25884 genome.wustl.edu 37 11 74413902 74413902 + Missense_Mutation SNP G G A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_015424.3 -1 validated p.R353C 0.978 123 0% 123 27.6% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ELMOD1 55531 genome.wustl.edu 37 11 107501189 107501189 + Missense_Mutation SNP C C T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_018712.3 +1 validated p.R22C 1.000 361 0% 318 30.5% 0 - possibly_damaging(0.822) tolerated(0.13) deleterious(0.564) NULL SORL1 6653 genome.wustl.edu 37 11 121466380 121466380 + Missense_Mutation SNP G G A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_003105.4 +1 reviewed p.R1473Q 0.970 70 0% 45 31.1% 0 - benign(0.333) tolerated(0.09) neutral(0.401) HMMPfam_Ldl_recept_a,HMMSmart_SM00192,superfamily_LDL receptor-like module RAD52 5893 genome.wustl.edu 37 12 1023673 1023673 + Silent SNP C C T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_134424.2 -1 reviewed p.T297 0.003 123 0% 140 25% 6 33.3% - - - NULL ADIPOR2 79602 genome.wustl.edu 37 12 1882009 1882009 + Missense_Mutation SNP G G A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_024551.2 +1 validated p.S58N 0.106 185 0% 184 30.4% 1 0% benign(0) tolerated(0.45) neutral(0.012) NULL LRP6 4040 genome.wustl.edu 37 12 12284952 12284952 + Missense_Mutation SNP G G A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_002336.2 -1 reviewed p.T1258M 1.000 125 0% 138 31.9% 4 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Ldl_recept_a,HMMSmart_SM00192,superfamily_LDL receptor-like module,superfamily_EGF/Laminin LST-3TM12 338821 genome.wustl.edu 37 12 21243002 21243002 + Missense_Mutation SNP G G A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_001009562.4 +1 validated p.D629N 0.002 160 0% 121 28.9% 0 - benign(0) tolerated(1) - NULL SLC2A13 114134 genome.wustl.edu 37 12 40153973 40153973 + Missense_Mutation SNP T T G novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_052885.3 -1 validated p.K601T 0.997 305 0% 209 33% 0 - benign(0.001) tolerated(0.53) neutral(0.007) HMMPfam_Sugar_tr,superfamily_MFS general substrate transporter TWF1 5756 genome.wustl.edu 37 12 44191161 44191161 + Missense_Mutation SNP C C T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_002822.3 -1 reviewed p.R269H 1.000 447 0.2% 380 25.8% 35 31.4% probably_damaging(0.96) deleterious(0) deleterious(0.848) HMMPfam_Cofilin_ADF,HMMSmart_SM00102,superfamily_Actin depolymerizing proteins HOXC10 3226 genome.wustl.edu 37 12 54379527 54379527 + Missense_Mutation SNP C C T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_017409.3 +1 reviewed p.P162S 1.000 23 0% 26 38.5% 0 - benign(0.001) tolerated(0.69) neutral(0.002) NULL NCKAP1L 3071 genome.wustl.edu 37 12 54903702 54903702 + Missense_Mutation SNP G G A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_005337.4 +1 reviewed p.R223H 1.000 280 0% 256 30.1% 7 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Nckap1 NEUROD4 58158 genome.wustl.edu 37 12 55420674 55420674 + Missense_Mutation SNP G G A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_021191.2 +1 validated p.G151R 1.000 72 0% 81 39.5% 0 - possibly_damaging(0.931) tolerated(0.34) neutral(0.401) superfamily_HLH_basic LRP1 4035 genome.wustl.edu 37 12 57595605 57595605 + Missense_Mutation SNP C C T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_002332.2 +1 reviewed p.S3504L 1.000 65 0% 79 25.3% 15 13.3% benign(0.389) deleterious(0.01) deleterious(0.530) HMMPfam_Ldl_recept_a,HMMSmart_SM00192,superfamily_LDL receptor-like module TRHDE 29953 genome.wustl.edu 37 12 72893298 72893298 + Silent SNP C C T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_013381.2 +1 reviewed p.T490 0.041 298 0% 232 31% 0 - - - - HMMPfam_Peptidase_M1,superfamily_SSF55486 LUM 4060 genome.wustl.edu 37 12 91502008 91502008 + Missense_Mutation SNP G G T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_002345.3 -1 reviewed p.S250Y 0.997 331 0% 292 31.8% 248 3.6% possibly_damaging(0.492) deleterious(0.04) deleterious(0.513) HMMPfam_LRR_1,superfamily_L domain-like FGD6 55785 genome.wustl.edu 37 12 95535309 95535309 + Missense_Mutation SNP G G A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_018351.3 -1 validated p.R898W 1.000 157 0.6% 154 27.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) USP44 84101 genome.wustl.edu 37 12 95927846 95927846 + Nonsense_Mutation SNP C C A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_001042403.1 -1 validated p.E63* 1.000 243 0% 255 30.2% 2 0% - - - HMMPfam_zf-UBP,HMMSmart_SM00290 RAD9B 144715 genome.wustl.edu 37 12 110944424 110944424 + Missense_Mutation SNP G G T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_152442.3 +1 validated p.R105I 1.000 318 0% 278 30.9% 1 0% probably_damaging(0.989) deleterious(0) deleterious(0.884) HMMPfam_Rad9,superfamily_DNA clamp SBNO1 55206 genome.wustl.edu 37 12 123782558 123782558 + Missense_Mutation SNP G G A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_018183.3 -1 validated p.R1335W 1.000 298 0% 328 32.9% 22 45.4% possibly_damaging(0.916) deleterious(0) deleterious(0.811) NULL POLE 5426 genome.wustl.edu 37 12 133250250 133250250 + Missense_Mutation SNP G G C novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_006231.2 -1 validated p.L424V 1.000 85 0% 72 22.2% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DNA_pol_B_exo,HMMSmart_POLBc,superfamily_RNaseH_fold SACS 26278 genome.wustl.edu 37 13 23911306 23911306 + Missense_Mutation SNP C C T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_014363.4 -1 reviewed p.E2237K 0.999 144 0% 119 36.1% 0 - benign(0.014) tolerated(0.67) neutral(0.003) NULL LOC643677 643677 genome.wustl.edu 37 13 103389750 103389750 + Missense_Mutation SNP G G T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 XM_002344085.1 -1 model p.H4281N 0.000 383 0% 363 28.7% 0 - - - - NULL OR4K2 390431 genome.wustl.edu 37 14 20344688 20344688 + Missense_Mutation SNP G G T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_001005501.1 +1 provisional p.G88C 0.000 540 0% 517 19% 0 - benign(0.149) deleterious(0) neutral(0.458) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR4K5 79317 genome.wustl.edu 37 14 20389398 20389398 + Missense_Mutation SNP C C A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_001005483.1 +1 provisional p.F211L 0.008 666 0% 573 21.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 NGB 58157 genome.wustl.edu 37 14 77733000 77733000 + Missense_Mutation SNP G G A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_021257.3 -1 reviewed p.S112F 1.000 18 0% 27 29.6% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Globin,superfamily_Globin-like TDP1 55775 genome.wustl.edu 37 14 90430014 90430014 + Missense_Mutation SNP A A G novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_001008744.1 +1 reviewed p.K186E 1.000 37 0% 37 29.7% 7 71.4% benign(0.05) tolerated(0.23) neutral(0.045) HMMPfam_Tyr-DNA_phospho,superfamily_SSF56024 IGHD 3495 genome.wustl.edu 37 14 106307280 106307280 + Silent SNP A A G novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 ENST00000390556 -1 known p.I253T 0.000 25 0% 27 37% 10 0% - - - HMMSmart_SM00407,superfamily_Immunoglobulin CHRNA7 1139 genome.wustl.edu 37 15 32404082 32404082 + Missense_Mutation SNP A A G novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_000746.3 +1 reviewed p.D111G 1.000 272 0% 298 28.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD WDR72 256764 genome.wustl.edu 37 15 53908256 53908256 + Missense_Mutation SNP G G A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_182758.2 -1 validated p.A716V 1.000 185 0% 176 33.5% 1 100% benign(0.082) deleterious(0.01) neutral(0.412) NULL CCPG1 9236 genome.wustl.edu 37 15 55652342 55652342 + Silent SNP G G T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_004748.3 -1 validated p.I543 1.000 359 0% 200 18% 18 16.6% - - - NULL SLTM 79811 genome.wustl.edu 37 15 59182496 59182496 + Missense_Mutation SNP C C T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_024755.2 -1 validated p.R688H 1.000 249 0% 227 26% 34 35.2% unknown(0) deleterious(0) - NULL TPM1 7168 genome.wustl.edu 37 15 63354419 63354419 + Silent SNP G G A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_000366.5 +1 reviewed p.S215 0.046 189 0% 163 33.1% 86 26.7% - - - HMMPfam_Tropomyosin CYP1A2 1544 genome.wustl.edu 37 15 75042757 75042757 + Silent SNP C C T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_000761.3 +1 reviewed p.F226 0.096 120 0% 117 29.1% 0 - - - - HMMPfam_p450,superfamily_Cytochrome_P450 SIN3A 25942 genome.wustl.edu 37 15 75684631 75684631 + Nonsense_Mutation SNP G G A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_001145357.1 -1 reviewed p.R935* 1.000 266 0% 244 29.5% 9 11.1% - - - NULL LINGO1 84894 genome.wustl.edu 37 15 77907931 77907931 + Silent SNP G G A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_032808.5 -1 validated p.I106 0.945 49 0% 52 28.8% 18 0% - - - HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like ATF7IP2 80063 genome.wustl.edu 37 16 10575958 10575958 + Missense_Mutation SNP C C T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_024997.2 +1 validated p.A634V 1.000 205 0% 186 31.2% 2 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL TMC7 79905 genome.wustl.edu 37 16 19058553 19058553 + Silent SNP C C A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_024847.3 +1 validated p.I574 1.000 173 0% 182 30.8% 1 0% - - - HMMPfam_TMC CDR2 1039 genome.wustl.edu 37 16 22358509 22358509 + Missense_Mutation SNP G G A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_001802.1 -1 validated p.T381I 1.000 178 0% 135 25.9% 14 28.5% probably_damaging(0.996) deleterious(0.04) deleterious(0.810) NULL ZNF267 10308 genome.wustl.edu 37 16 31927264 31927264 + Missense_Mutation SNP G G A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_003414.4 +1 validated p.R565Q 0.001 167 0% 155 27.1% 9 33.3% benign(0.295) tolerated(0.66) neutral(0.094) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CDH8 1006 genome.wustl.edu 37 16 61891113 61891113 + Missense_Mutation SNP C C T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_001796.2 -1 reviewed p.D193N 1.000 187 0% 144 31.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin AP1G1 164 genome.wustl.edu 37 16 71768542 71768542 + Silent SNP T T C novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_001030007.1 -1 reviewed p.T782 1.000 191 0% 205 21.5% 16 43.7% - - - HMMPfam_Alpha_adaptinC2,HMMSmart_SM00809,superfamily_Clathrin adaptor appendage domain DNAH9 1770 genome.wustl.edu 37 17 11696895 11696895 + Nonsense_Mutation SNP C C T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_001372.3 +1 reviewed p.R2713* 0.997 428 0.2% 432 29.9% 3 0% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases NF1 4763 genome.wustl.edu 37 17 29657368 29657368 + Silent SNP C C T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_001042492.2 +1 reviewed p.I1888 0.995 334 0% 295 25.1% 2 50% - - - NULL UTP6 55813 genome.wustl.edu 37 17 30221755 30221755 + Missense_Mutation SNP C C T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_018428.2 -1 validated p.R74H 1.000 155 0% 144 27.1% 17 35.2% benign(0.386) tolerated(0.1) neutral(0.410) HMMPfam_U3_assoc_6 KRT15 3866 genome.wustl.edu 37 17 39674765 39674765 + Missense_Mutation SNP C C A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_002275.3 -1 reviewed p.E105D 1.000 469 0% 565 31.5% 1 100% possibly_damaging(0.924) deleterious(0.03) deleterious(0.738) HMMPfam_Filament KANSL1 284058 genome.wustl.edu 37 17 44144914 44144914 + Splice_Site SNP C C T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_015443.2 -1 validated e4+1 1.000 159 0.6% 150 28% 0 - - - - - C17orf57 124989 genome.wustl.edu 37 17 45421658 45421658 + Missense_Mutation SNP G G A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_152347.3 +1 provisional p.R145Q 0.900 416 0% 355 33.8% 1 0% probably_damaging(0.982) deleterious(0) deleterious(0.871) NULL CACNA1G 8913 genome.wustl.edu 37 17 48646241 48646241 + Missense_Mutation SNP C C T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_018896.3 +1 validated p.R85C 1.000 127 0.8% 135 23.7% 0 - possibly_damaging(0.877) tolerated(0.11) deleterious(0.613) superfamily_Voltage-gated potassium channels UBE2O 63893 genome.wustl.edu 37 17 74387400 74387400 + Missense_Mutation SNP G G A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_022066.3 -1 validated p.S1168L 1.000 27 0% 22 27.3% 22 50% benign(0.038) deleterious(0.01) neutral(0.408) NULL FUT6 2528 genome.wustl.edu 37 19 5831793 5831793 + Silent SNP G G A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_000150.2 -1 reviewed p.N262 0.705 179 0% 189 19.6% 2 0% - - - HMMPfam_Glyco_transf_10 RAD23A 5886 genome.wustl.edu 37 19 13063595 13063595 + Silent SNP C C T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_005053.2 +1 reviewed p.G302 0.052 57 0% 57 29.8% 103 43.6% - - - NULL WIZ 58525 genome.wustl.edu 37 19 15535052 15535052 + Missense_Mutation SNP G G A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_021241.2 -1 validated p.R723W 1.000 20 0% 31 32.3% 38 34.2% unknown(0) deleterious(0) - NULL ANKRD27 84079 genome.wustl.edu 37 19 33116816 33116816 + Silent SNP C C T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_032139.2 -1 validated p.T531 0.000 64 0% 77 36.4% 4 50% - - - HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK ZNF30 90075 genome.wustl.edu 37 19 35435529 35435529 + Silent SNP A A G novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_001099437.1 +1 validated p.G554 0.002 216 0% 197 28.9% 4 25% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers FXYD5 53827 genome.wustl.edu 37 19 35655081 35655081 + Silent SNP G G A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_014164.5 +1 reviewed p.T105 0.000 328 0% 405 29.9% 124 2.4% - - - NULL ZNF527 84503 genome.wustl.edu 37 19 37880252 37880252 + Missense_Mutation SNP G G T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_032453.1 +1 validated p.R434I 0.152 180 0% 141 27.7% 2 50% 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 MARK4 57787 genome.wustl.edu 37 19 45766388 45766388 + Silent SNP C C T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_031417.2 +1 provisional p.I90 0.976 169 0.6% 164 31.7% 14 28.5% - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase PRKD2 25865 genome.wustl.edu 37 19 47204186 47204186 + Missense_Mutation SNP C C T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_001079880.1 -1 reviewed p.D331N 0.940 82 0% 85 24.7% 26 42.3% benign(0.056) tolerated(0.34) neutral(0.026) NULL PLA2G4C 8605 genome.wustl.edu 37 19 48601419 48601419 + Missense_Mutation SNP G G A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_003706.2 -1 reviewed p.S182F 0.000 196 0% 238 26.5% 4 0% benign(0.146) deleterious(0.01) neutral(0.418) HMMPfam_PLA2_B,HMMSmart_PLAc,superfamily_Acyl_Trfase/lysoPlipase SHANK1 50944 genome.wustl.edu 37 19 51201126 51201126 + Missense_Mutation SNP G G A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_016148.2 -1 validated p.A612V 0.981 90 0% 127 29.1% 4 25% possibly_damaging(0.9) tolerated(0.06) deleterious(0.679) HMMSmart_SM00326 ZNF432 9668 genome.wustl.edu 37 19 52496734 52496734 + Splice_Site SNP C C T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 ENST00000391793 -1 known e5+2 0.025 251 0% 257 28.4% 6 83.3% - - - - ZNF615 284370 genome.wustl.edu 37 19 52497070 52497070 + Missense_Mutation SNP C C T rs142913953 by1000genomes TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_198480.2 -1 provisional p.R420Q 0.999 286 0% 247 26.7% 2 50% benign(0.223) deleterious(0.02) neutral(0.405) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF836 162962 genome.wustl.edu 37 19 52658375 52658375 + Missense_Mutation SNP C C A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_001102657.1 -1 provisional p.R854I 0.001 325 0% 251 31.9% 5 20% probably_damaging(1) tolerated(0.22) deleterious(0.542) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ENSG00000245932 0 genome.wustl.edu 37 19 53302662 53302662 + RNA SNP G G A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 ENST00000500436 +1 known NULL 0.003 100 0% 98 40.8% 6 33.3% - - - - NLRP7 199713 genome.wustl.edu 37 19 55453023 55453023 + Missense_Mutation SNP C C A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_001127255.1 -1 reviewed p.E19D 0.000 99 1% 63 30.2% 0 - benign(0.395) tolerated(0.29) neutral(0.156) HMMPfam_PAAD_DAPIN,superfamily_DEATH domain ZNF582 147948 genome.wustl.edu 37 19 56895622 56895622 + Silent SNP A A G novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_144690.1 -1 provisional p.I388 0.002 200 0% 153 28.1% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF551 90233 genome.wustl.edu 37 19 58199547 58199547 + Missense_Mutation SNP G G T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_138347.3 +1 validated p.R619I 0.054 235 0% 234 28.6% 2 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 PDYN 5173 genome.wustl.edu 37 20 1961166 1961166 + Missense_Mutation SNP C C A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_024411.2 -1 reviewed p.A190S 0.998 184 0% 192 29.7% 0 - benign(0.197) tolerated(0.2) neutral(0.068) NULL TMC2 117532 genome.wustl.edu 37 20 2572995 2572995 + Missense_Mutation SNP A A G novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_080751.2 +1 validated p.T292A 1.000 272 0% 238 23.9% 0 - probably_damaging(0.995) tolerated(0.1) deleterious(0.744) NULL LRRN4 164312 genome.wustl.edu 37 20 6031429 6031429 + Missense_Mutation SNP G G T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_152611.3 -1 validated p.Q286K 0.963 257 0% 284 35.6% 3 66.6% probably_damaging(0.996) tolerated(0.21) deleterious(0.506) HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like FOXA2 3170 genome.wustl.edu 37 20 22563193 22563193 + Frame_Shift_Del DEL C C - novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_021784.4 -1 reviewed p.D231fs 0.748 - - - - - - - - - HMMPfam_Fork_head,HMMSmart_FH,superfamily_SSF46785 JPH2 57158 genome.wustl.edu 37 20 42744389 42744389 + Silent SNP A A G novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_020433.4 -1 reviewed p.A642 0.829 60 0% 70 32.9% 0 - - - - NULL NCOA3 8202 genome.wustl.edu 37 20 46275921 46275921 + Silent SNP G G A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_181659.2 +1 reviewed p.G1119 0.705 191 0% 211 33.2% 4 50% - - - NULL ATP9A 10079 genome.wustl.edu 37 20 50217873 50217873 + Silent SNP G G A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_006045.1 -1 validated p.I1007 0.988 148 0% 177 26.6% 12 33.3% - - - NULL ZNF831 128611 genome.wustl.edu 37 20 57829419 57829419 + Missense_Mutation SNP G G T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_178457.1 +1 provisional p.R1552I 0.000 60 0% 78 28.2% 1 100% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL CDH4 1002 genome.wustl.edu 37 20 60508054 60508054 + Missense_Mutation SNP C C A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_001794.2 +1 reviewed p.L751M 1.000 21 0% 32 28.1% 0 - probably_damaging(0.983) tolerated(0.31) neutral(0.456) NULL LAMA5 3911 genome.wustl.edu 37 20 60887808 60887808 + Missense_Mutation SNP C C T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_005560.3 -1 reviewed p.R3036H 0.096 27 0% 34 29.4% 101 34.6% probably_damaging(0.997) tolerated(0.14) deleterious(0.716) HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 COL9A3 1299 genome.wustl.edu 37 20 61472015 61472015 + Silent SNP C C T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_001853.3 +1 reviewed p.C662 0.967 48 2.1% 47 36.2% 4 25% - - - NULL MYT1 4661 genome.wustl.edu 37 20 62839368 62839368 + Missense_Mutation SNP G G T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_004535.2 +1 reviewed p.E273D 0.466 33 0% 37 27% 0 - possibly_damaging(0.558) tolerated(0.59) neutral(0.195) NULL PDE9A 5152 genome.wustl.edu 37 21 44180974 44180974 + Missense_Mutation SNP G G T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_002606.2 +1 reviewed p.A348S 0.991 112 0% 115 29.6% 33 42.4% benign(0.018) tolerated(1) neutral(0.001) HMMPfam_PDEase_I,HMMSmart_SM00471,superfamily_HD-domain/PDEase-like DIP2A 23181 genome.wustl.edu 37 21 47931446 47931446 + Missense_Mutation SNP C C T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_015151.3 +1 reviewed p.R341C 0.992 67 0% 79 22.8% 4 50% probably_damaging(0.991) deleterious(0) deleterious(0.889) superfamily_Acetyl-CoA synthetase-like CLTCL1 8218 genome.wustl.edu 37 22 19171031 19171031 + Missense_Mutation SNP C C T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_007098.3 -1 reviewed p.A1567T 0.988 61 0% 89 41.6% 1 0% possibly_damaging(0.666) tolerated(0.15) deleterious(0.477) HMMPfam_Clathrin,HMMSmart_SM00299 PLXNB2 23654 genome.wustl.edu 37 22 50722588 50722588 + Missense_Mutation SNP C C T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_012401.2 -1 validated p.G746S 0.725 17 0% 24 20.8% 82 37.8% benign(0.141) tolerated(0.14) neutral(0.262) NULL ACR 49 genome.wustl.edu 37 22 51177871 51177871 + Missense_Mutation SNP C C T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_001097.2 +1 reviewed p.L84F 0.998 93 0% 74 31.1% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys,PatternScan_TRYPSIN_HIS KAL1 3730 genome.wustl.edu 37 X 8591709 8591709 + Silent SNP G G A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_000216.2 -1 reviewed p.C86 0.997 271 0% 267 33% 2 50% - - - NULL ARHGAP6 395 genome.wustl.edu 37 X 11215100 11215100 + Silent SNP C C T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_013427.2 -1 reviewed p.K255 1.000 666 0.2% 614 24.3% 1 0% - - - NULL POLA1 5422 genome.wustl.edu 37 X 24833182 24833182 + Missense_Mutation SNP A A G novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_016937.3 +1 reviewed p.N1122S 1.000 284 0% 227 33% 2 0% benign(0.01) tolerated(0.39) neutral(0.017) HMMPfam_DNA_pol_B,superfamily_SSF56672 DYNLT3 6990 genome.wustl.edu 37 X 37700325 37700325 + Missense_Mutation SNP C C T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_006520.2 -1 reviewed p.G77D 1.000 197 1% 204 21.1% 25 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Tctex-1 RPGR 6103 genome.wustl.edu 37 X 38147174 38147174 + Nonsense_Mutation SNP G G A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_001034853.1 -1 reviewed p.Q565* 0.000 533 0% 578 28.2% 17 0% - - - NULL ZNF674 641339 genome.wustl.edu 37 X 46359810 46359810 + Missense_Mutation SNP C C A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_001039891.2 -1 validated p.R405I 1.000 369 0% 285 30.5% 1 100% probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 NDUFB11 54539 genome.wustl.edu 37 X 47001818 47001818 + Silent SNP G G A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_019056.5 -1 validated p.R130 0.994 211 0.5% 245 31% 591 0% - - - HMMPfam_ESSS ZNF41 7592 genome.wustl.edu 37 X 47308859 47308859 + Missense_Mutation SNP T T C novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_007130.2 -1 reviewed p.K104E 0.000 156 0% 82 28% 2 0% benign(0) tolerated(1) - NULL SSX6 280657 genome.wustl.edu 37 X 47969639 47969639 + Missense_Mutation SNP T T A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 ENST00000304314 +1 known p.L39H 0.006 124 0% 85 40% 0 - - - - NULL PLP2 5355 genome.wustl.edu 37 X 49029824 49029824 + Silent SNP C C T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_002668.2 +1 reviewed p.V113 0.000 192 0% 233 30.9% 164 0% - - - HMMPfam_MARVEL CACNA1F 778 genome.wustl.edu 37 X 49066446 49066446 + Missense_Mutation SNP G G A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_005183.2 -1 reviewed p.R1560W 1.000 74 0% 74 24.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL MIR545 664614 genome.wustl.edu 37 X 73507035 73507035 + RNA SNP C C T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 ENST00000385085 -1 known NULL 1.000 188 0% 184 32.6% 0 - - - - - MAGEE1 57692 genome.wustl.edu 37 X 75650688 75650688 + Missense_Mutation SNP C C T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_020932.2 +1 reviewed p.R789C 0.531 107 0% 85 31.8% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MAGE HDX 139324 genome.wustl.edu 37 X 83723704 83723704 + Missense_Mutation SNP G G T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_144657.4 -1 validated p.P343T 0.015 248 0% 273 35.5% 1 0% benign(0.108) tolerated(0.11) neutral(0.280) NULL ZNF711 7552 genome.wustl.edu 37 X 84525091 84525091 + Silent SNP T T C novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_021998.4 +1 reviewed p.N349 1.000 344 0% 298 35.2% 3 0% - - - HMMPfam_Zfx_Zfy_act KLHL4 56062 genome.wustl.edu 37 X 86872944 86872944 + Missense_Mutation SNP A A G novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_057162.2 +1 reviewed p.Q246R 1.000 233 0% 195 29.7% 1 0% benign(0.045) deleterious(0.03) neutral(0.367) HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB MORC4 79710 genome.wustl.edu 37 X 106185285 106185285 + Missense_Mutation SNP C C A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_024657.4 -1 reviewed p.R848I 1.000 607 0% 601 28.5% 34 91.1% possibly_damaging(0.933) deleterious(0) deleterious(0.824) NULL ZBTB33 10009 genome.wustl.edu 37 X 119389184 119389184 + Missense_Mutation SNP G G T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_006777.3 +1 reviewed p.M638I 1.000 187 0% 130 33.1% 6 0% benign(0.002) tolerated(0.13) neutral(0.253) NULL ACTRT1 139741 genome.wustl.edu 37 X 127185349 127185349 + Silent SNP G G T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_138289.3 -1 reviewed p.V279 0.164 79 0% 82 32.9% 0 - - - - HMMPfam_Actin,HMMSmart_ACTIN,superfamily_SSF53067 UTP14A 10813 genome.wustl.edu 37 X 129055269 129055269 + Missense_Mutation SNP G G T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_006649.3 +1 reviewed p.D352Y 0.787 199 0% 237 26.6% 11 0% benign(0.136) deleterious(0) neutral(0.456) HMMPfam_Utp14 BCORL1 63035 genome.wustl.edu 37 X 129156885 129156885 + Nonsense_Mutation SNP G G T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 ENST00000441294 +1 known p.E643* 1.000 287 0% 310 23.9% 5 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL AFF2 2334 genome.wustl.edu 37 X 148039870 148039870 + Missense_Mutation SNP A A G novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_002025.3 +1 reviewed p.I858V 0.884 265 0% 218 28.9% 0 - benign(0) tolerated(0.28) neutral(0.032) HMMPfam_AF-4 GABRA3 2556 genome.wustl.edu 37 X 151533003 151533003 + Missense_Mutation SNP G G T novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_000808.3 -1 reviewed p.L14I 0.105 385 0% 335 27.5% 0 - benign(0.021) tolerated(0.9) neutral(0.001) NULL PLXNB3 5365 genome.wustl.edu 37 X 153040817 153040817 + Silent SNP G G A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 ENST00000411613 +1 known p.R137Q 0.025 28 0% 26 30.8% 5 0% - - - superfamily_GTPase activation domain GAP,HMMPfam_Plexin_cytopl L1CAM 3897 genome.wustl.edu 37 X 153134982 153134982 + Silent SNP G G A novel TCGA-BG-A0VX-01A-11D-A122-09 TCGA-BG-A0VX-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2a098a98-24a0-4b4e-be74-af26c8cef3dc 3cb231e6-b767-4ef7-bf0d-04854ea87da4 NM_000425.3 -1 reviewed p.Y420 0.608 64 0% 86 27.9% 0 - - - - HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin