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 chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error MT-ND5 4540 genome.wustl.edu 36 MT 12690 12690 + Missense_Mutation SNP T A A novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff MT 12690 12690 T A SNP MT-ND5 ENST00000361567 human ensembl 54_36p +1 known missense c.353 p.F118Y NULL HMMPfam_Oxidored_q1_N HMMPfam_Oxidored_q1_N,HMMPfam_Oxidored_q1,HMMPfam_NADH5_C - no_errors JARID1A 5927 genome.wustl.edu 36 12 275113 275113 + Missense_Mutation SNP G G A novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 12 275113 275113 G A SNP JARID1A NM_001042603 human genbank 54_36p -1 reviewed missense c.4342 p.L1448F 1.000 NULL HMMSmart_SM00545,HMMSmart_SM00501,HMMSmart_SM00249,PatternScan_ZF_PHD_1,HMMSmart_SM00558 - no_errors CCDC77 84318 genome.wustl.edu 36 12 420355 420355 + Missense_Mutation SNP G G C novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 12 420355 420355 G C SNP CCDC77 NM_032358 human genbank 54_36p +1 validated missense c.1252 p.E418Q 1.000 NULL NULL - no_errors WDR37 22884 genome.wustl.edu 36 10 1132163 1132163 + Missense_Mutation SNP C C A novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 10 1132163 1132163 C A SNP WDR37 NM_014023 human genbank 54_36p +1 reviewed missense c.703 p.P235T 0.960 superfamily_WD40_like superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,PatternScan_WD_REPEATS_1 - no_errors SRRM2 23524 genome.wustl.edu 36 16 2755986 2755986 + Missense_Mutation SNP G G T novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 16 2755986 2755986 G T SNP SRRM2 NM_016333 human genbank 54_36p +1 validated missense c.5456 p.G1819V 1.000 NULL HMMPfam_cwf21 - no_errors FOXM1 2305 genome.wustl.edu 36 12 2838335 2838335 + Silent SNP T T C novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 12 2838335 2838335 T C SNP FOXM1 NM_202002 human genbank 54_36p -1 validated silent c.2136 p.Q712 0.756 NULL "HMMSmart_SM00339,superfamily_""Winged helix"" DNA-binding domain,PatternScan_FORK_HEAD_1,HMMPfam_Fork_head,PatternScan_FORK_HEAD_2" - no_errors HTT 3064 genome.wustl.edu 36 4 3158178 3158178 + Silent SNP G G A novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 4 3158178 3158178 G A SNP HTT NM_002111 human genbank 54_36p +1 reviewed silent c.4923 p.L1641 1.000 NULL superfamily_ARM repeat,HMMPfam_HEAT - no_errors BTBD12 84464 genome.wustl.edu 36 16 3579992 3579992 + Missense_Mutation SNP C C G novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 16 3579992 3579992 C G SNP BTBD12 NM_032444 human genbank 54_36p -1 provisional missense c.3648 p.Q1216H 0.001 NULL superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225 - no_errors HSPA12B 116835 genome.wustl.edu 36 20 3674608 3674608 + Missense_Mutation SNP G G C novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 20 3674608 3674608 G C SNP HSPA12B NM_052970 human genbank 54_36p +1 reviewed missense c.605 p.R202P 1.000 superfamily_SSF53067 PatternScan_HSP70_1,PatternScan_HSP70_2,PatternScan_HSP70_3,superfamily_SSF53067 - no_errors UBXN6 80700 genome.wustl.edu 36 19 4405023 4405023 + Missense_Mutation SNP C C T novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 19 4405023 4405023 C T SNP UBXN6 NM_025241 human genbank 54_36p -1 provisional missense c.151 p.E51K 1.000 NULL HMMPfam_PUB,HMMSmart_SM00580,superfamily_Ubiquitin-like,HMMSmart_SM00166,HMMPfam_UBX - no_errors LOC442153 442153 genome.wustl.edu 36 6 4648062 4648062 + RNA SNP C C A novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 6 4648062 4648062 C A SNP LOC442153 XR_016425 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene WSCD1 23302 genome.wustl.edu 36 17 5962128 5962128 + Missense_Mutation SNP C C T novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 17 5962128 5962128 C T SNP WSCD1 NM_015253 human genbank 54_36p +1 validated missense c.1271 p.A424V 0.998 superfamily_SSF52540 HMMSmart_WSC,HMMPfam_WSC,superfamily_SSF52540 - no_errors TADA2B 93624 genome.wustl.edu 36 4 7107526 7107526 + Silent SNP C C T novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 4 7107526 7107526 C T SNP TADA2B NM_152293 human genbank 54_36p +1 validated silent c.1107 p.Y369 0.990 NULL HMMSmart_SM00291,PatternScan_ZF_ZZ_1,superfamily_Homeodomain-like,HMMSmart_SM00717,HMMPfam_Myb_DNA-binding - no_errors AMAC1L3 643664 genome.wustl.edu 36 17 7326363 7326363 + Silent SNP C C T novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 17 7326363 7326363 C T SNP AMAC1L3 NM_001102614 human genbank 54_36p +1 provisional silent c.336 p.V112 1.000 superfamily_SSF103481 superfamily_SSF103481,HMMPfam_DUF6 - no_errors TP53 7157 genome.wustl.edu 36 17 7517783 7517783 + Nonsense_Mutation SNP C C A novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 17 7517783 7517783 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.880 p.E294* 0.009 NULL HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain - no_errors VCX 26609 genome.wustl.edu 36 X 7771259 7771259 + Silent SNP G G C novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff X 7771259 7771259 G C SNP VCX NM_013452 human genbank 54_36p +1 reviewed silent c.15 p.P5 0.000 NULL NULL - no_errors PER1 5187 genome.wustl.edu 36 17 7985881 7985881 + Silent SNP C C G novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 17 7985881 7985881 C G SNP PER1 NM_002616 human genbank 54_36p -1 reviewed silent c.3567 p.R1189 0.997 NULL HMMSmart_SM00091,superfamily_PYP-like sensor domain (PAS domain),HMMPfam_PAS_3 - no_errors OR7G3 390883 genome.wustl.edu 36 19 9097799 9097799 + Silent SNP C C A novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 19 9097799 9097799 C A SNP OR7G3 NM_001001958 human genbank 54_36p -1 provisional silent c.828 p.V276 0.091 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors LOC100132755 0 genome.wustl.edu 36 Y 10647825 10647825 + Missense_Mutation SNP T T C novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff Y 10647825 10647825 T C SNP LOC100132755 XM_001713806 human genbank 54_36p +1 model missense c.20 p.I7T 1.000 NULL NULL - no_errors MPDZ 8777 genome.wustl.edu 36 9 13214390 13214390 + Missense_Mutation SNP T T A novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 9 13214390 13214390 T A SNP MPDZ NM_003829 human genbank 54_36p -1 validated missense c.376 p.I126F 1.000 superfamily_PDZ domain-like HMMPfam_L27_2,superfamily_L27 domain,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228 - no_errors WBP11 51729 genome.wustl.edu 36 12 14837945 14837945 + Silent SNP T T C novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 12 14837945 14837945 T C SNP WBP11 NM_016312 human genbank 54_36p -1 reviewed silent c.900 p.E300 0.984 NULL HMMPfam_Wbp11 - no_errors LOC100130214 0 genome.wustl.edu 36 9 15458318 15458318 + Missense_Mutation SNP G G C novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 9 15458318 15458318 G C SNP LOC100130214 XM_001716944 human genbank 54_36p -1 model missense c.59 p.P20R 0.396 NULL NULL - no_start_codon:pseudogene DDI2 84301 genome.wustl.edu 36 1 15837433 15837433 + Missense_Mutation SNP C C G novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 1 15837433 15837433 C G SNP DDI2 NM_032341 human genbank 54_36p +1 provisional missense c.677 p.A226G 1.000 HMMPfam_Asp_protease,superfamily_Acid proteases superfamily_Ubiquitin-like,HMMPfam_ubiquitin,HMMPfam_Asp_protease,superfamily_Acid proteases - no_errors CYFIP1 23191 genome.wustl.edu 36 15 20549922 20549922 + Missense_Mutation SNP A A G novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 15 20549922 20549922 A G SNP CYFIP1 NM_014608 human genbank 54_36p +1 validated missense c.3173 p.H1058R 1.000 HMMPfam_FragX_IP HMMPfam_FragX_IP - no_errors SLC6A5 9152 genome.wustl.edu 36 11 20592888 20592888 + Missense_Mutation SNP A A G novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 11 20592888 20592888 A G SNP SLC6A5 NM_004211 human genbank 54_36p +1 validated missense c.1073 p.N358S 1.000 HMMPfam_SNF HMMPfam_SNF,PatternScan_NA_NEUROTRAN_SYMP_1,PatternScan_NA_NEUROTRAN_SYMP_2,PatternScan_ASP_GLU_RACEMASE_1 - no_errors ZNF521 25925 genome.wustl.edu 36 18 21061393 21061393 + Missense_Mutation SNP G G A novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 18 21061393 21061393 G A SNP ZNF521 NM_015461 human genbank 54_36p -1 validated missense c.487 p.R163C 1.000 superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors KCNJ12 3768 genome.wustl.edu 36 17 21259375 21259375 + Missense_Mutation SNP G G A novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 17 21259375 21259375 G A SNP KCNJ12 NM_021012 human genbank 54_36p +1 validated missense c.128 p.R43H 1.000 HMMPfam_IRK_N,superfamily_SSF81324 HMMPfam_IRK_N,superfamily_SSF81324,HMMPfam_IRK,superfamily_Ig_E-set - no_errors LOC100128432 0 genome.wustl.edu 36 17 21833593 21833593 + Missense_Mutation SNP G C C novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 17 21833593 21833593 G C SNP LOC100128432 XM_001723718 human genbank 54_36p +1 model missense c.118 p.V40L 0.000 NULL NULL - no_errors DHRS2 10202 genome.wustl.edu 36 14 23178033 23178033 + Silent SNP G G C novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 14 23178033 23178033 G C SNP DHRS2 NM_182908 human genbank 54_36p +1 validated silent c.120 p.V40 0.995 superfamily_NAD(P)-bd,HMMPfam_adh_short superfamily_NAD(P)-bd,HMMPfam_adh_short,PatternScan_ADH_SHORT - no_errors UPB1 51733 genome.wustl.edu 36 22 23236749 23236749 + Missense_Mutation SNP C C T novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 22 23236749 23236749 C T SNP UPB1 NM_016327 human genbank 54_36p +1 reviewed missense c.397 p.L133F 1.000 superfamily_Carbon-nitrogen hydrolase,HMMPfam_CN_hydrolase superfamily_Carbon-nitrogen hydrolase,HMMPfam_CN_hydrolase - no_errors STC1 6781 genome.wustl.edu 36 8 23758373 23758373 + Missense_Mutation SNP T T C novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 8 23758373 23758373 T C SNP STC1 NM_003155 human genbank 54_36p -1 reviewed missense c.599 p.D200G 1.000 HMMPfam_Stanniocalcin HMMPfam_Stanniocalcin - no_errors ATP12A 479 genome.wustl.edu 36 13 24163355 24163355 + Silent SNP C C T novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 13 24163355 24163355 C T SNP ATP12A NM_001676 human genbank 54_36p +1 reviewed silent c.1035 p.A345 0.995 superfamily_Calcium ATPase transmembrane domain M,HMMPfam_E1-E2_ATPase HMMPfam_Cation_ATPase_N,superfamily_Calcium ATPase transmembrane domain M,HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A,superfamily_HAD-like,HMMPfam_Hydrolase,PatternScan_ATPASE_E1_E2,superfamily_Metal cation-transporting ATPase ATP-binding domain N,HMMPfam_Cation_ATPase_C - no_errors FGR 2268 genome.wustl.edu 36 1 27814609 27814609 + Missense_Mutation SNP C C T novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 1 27814609 27814609 C T SNP FGR NM_001042729 human genbank 54_36p -1 reviewed missense c.941 p.R314Q 1.000 superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SSF55550,HMMSmart_SH2,HMMPfam_SH2,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR - no_errors MVP 9961 genome.wustl.edu 36 16 29755637 29755637 + Missense_Mutation SNP A A G novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 16 29755637 29755637 A G SNP MVP NM_005115 human genbank 54_36p +1 reviewed missense c.766 p.T256A 0.995 HMMPfam_Vault HMMPfam_Vault - no_errors STT3B 201595 genome.wustl.edu 36 3 31634444 31634444 + Missense_Mutation SNP G G A novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 3 31634444 31634444 G A SNP STT3B NM_178862 human genbank 54_36p +1 provisional missense c.1132 p.A378T 1.000 HMMPfam_STT3 HMMPfam_STT3 - no_errors FRY 10129 genome.wustl.edu 36 13 31650460 31650460 + Silent SNP C C G novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 13 31650460 31650460 C G SNP FRY NM_023037 human genbank 54_36p +1 validated silent c.2568 p.L856 0.999 NULL PatternScan_GHMP_KINASES_ATP - no_errors NCOA6 23054 genome.wustl.edu 36 20 32794759 32794759 + Missense_Mutation SNP G G T novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 20 32794759 32794759 G T SNP NCOA6 NM_014071 human genbank 54_36p -1 reviewed missense c.2962 p.P988T 1.000 NULL NULL - no_errors CSMD2 114784 genome.wustl.edu 36 1 33884931 33884931 + Missense_Mutation SNP G G C novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 1 33884931 33884931 G C SNP CSMD2 NM_052896 human genbank 54_36p -1 validated missense c.4558 p.L1520V 1.000 superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042 superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032,PatternScan_GLYCOSYL_HYDROL_F10,PatternScan_IG_MHC - no_errors PHF20 51230 genome.wustl.edu 36 20 33998939 33998939 + Missense_Mutation SNP G G C novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 20 33998939 33998939 G C SNP PHF20 NM_016436 human genbank 54_36p +1 validated missense c.3015 p.Q1005H 1.000 NULL superfamily_Tudor/PWWP/MBT,HMMSmart_SM00333,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1 - no_errors GRM4 2914 genome.wustl.edu 36 6 34167836 34167836 + Missense_Mutation SNP C C T novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 6 34167836 34167836 C T SNP GRM4 NM_000841 human genbank 54_36p -1 reviewed missense c.538 p.A180T 1.000 superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor,PatternScan_G_PROTEIN_RECEP_F3_1 superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor,PatternScan_G_PROTEIN_RECEP_F3_1,HMMPfam_NCD3G,PatternScan_G_PROTEIN_RECEP_F3_2,HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_3 - no_errors TULP1 7287 genome.wustl.edu 36 6 35575761 35575761 + Missense_Mutation SNP G G T novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 6 35575761 35575761 G T SNP TULP1 NM_003322 human genbank 54_36p -1 reviewed missense c.1470 p.N490K 1.000 superfamily_Transcriptional factor tubby C-terminal domain,HMMPfam_Tub,PatternScan_TUB_1 superfamily_Transcriptional factor tubby C-terminal domain,HMMPfam_Tub,PatternScan_TUB_1,PatternScan_TUB_2 - no_errors EPHA10 284656 genome.wustl.edu 36 1 37969788 37969788 + Silent SNP G G A novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 1 37969788 37969788 G A SNP EPHA10 NM_001099439 human genbank 54_36p -1 validated silent c.1545 p.T515 0.029 HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III HMMPfam_Ephrin_lbd,HMMSmart_SM00615,HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,PatternScan_RECEPTOR_TYR_KIN_V_1,PatternScan_RECEPTOR_TYR_KIN_V_2,HMMPfam_SAM_1,HMMSmart_SM00454,HMMSmart_SM00220,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,superfamily_Galactose-binding domain-like,superfamily_SAM/Pointed domain,superfamily_Protein kinase-like (PK-like),PatternScan_EGF_2 - no_errors MAP3K14 9020 genome.wustl.edu 36 17 40700833 40700833 + Missense_Mutation SNP G G T novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 17 40700833 40700833 G T SNP MAP3K14 ENST00000344686 human ensembl 54_36p -1 known missense c.2046 p.H682Q 0.000 NULL superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors ZNF239 8187 genome.wustl.edu 36 10 43373453 43373453 + Silent SNP A A G novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 10 43373453 43373453 A G SNP ZNF239 NM_001099282 human genbank 54_36p -1 validated silent c.81 p.I27 0.002 NULL superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors HNRNPA3P1 10151 genome.wustl.edu 36 10 43605674 43605674 + RNA SNP C C T novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 10 43605674 43605674 C T SNP HNRNPA3P1 NR_002726 human genbank 54_36p -1 validated rna NULL NULL 1.000 - - - pseudogene CKAP5 9793 genome.wustl.edu 36 11 46789171 46789171 + Missense_Mutation SNP C C G novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 11 46789171 46789171 C G SNP CKAP5 NM_001008938 human genbank 54_36p -1 validated missense c.592 p.A198P 1.000 superfamily_ARM repeat superfamily_ARM repeat,HMMPfam_HEAT - no_errors PSG8 440533 genome.wustl.edu 36 19 47950524 47950524 + Missense_Mutation SNP T T A novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 19 47950524 47950524 T A SNP PSG8 NM_182707 human genbank 54_36p -1 validated missense c.1044 p.E348D 0.005 superfamily_SSF48726,HMMSmart_IGc2,HMMPfam_ig HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig,HMMSmart_IGc2 - no_errors WDR13 64743 genome.wustl.edu 36 X 48345272 48345272 + Missense_Mutation SNP T T C novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff X 48345272 48345272 T C SNP WDR13 NM_017883 human genbank 54_36p +1 reviewed missense c.988 p.S330P 1.000 superfamily_WD40 repeat-like HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 - no_errors CCNB3 85417 genome.wustl.edu 36 X 50107449 50107449 + Missense_Mutation SNP A A G novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff X 50107449 50107449 A G SNP CCNB3 NM_033031 human genbank 54_36p +1 reviewed missense c.3895 p.K1299E 1.000 HMMPfam_Cyclin_C,superfamily_Cyclin-like,HMMSmart_SM00385 superfamily_Cyclin-like,HMMPfam_Cyclin_N,HMMSmart_SM00385,HMMPfam_Cyclin_C - no_errors TEX264 51368 genome.wustl.edu 36 3 51693603 51693603 + Silent SNP G G A novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 3 51693603 51693603 G A SNP TEX264 NM_015926 human genbank 54_36p +1 validated silent c.393 p.V131 1.000 superfamily_Probable bacterial effector-binding domain superfamily_Probable bacterial effector-binding domain - no_errors LOC729120 729120 genome.wustl.edu 36 15 53522833 53522833 + Silent SNP G A A novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 15 53522833 53522833 G A SNP LOC729120 XM_001133204 human genbank 54_36p -1 model silent c.15 p.C5 0.431 NULL superfamily_Thioesterase/thiol ester dehydrase-isomerase,HMMPfam_4HBT - no_errors PSME4 23198 genome.wustl.edu 36 2 53987258 53987258 + Missense_Mutation SNP G G A novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 2 53987258 53987258 G A SNP PSME4 NM_014614 human genbank 54_36p -1 validated missense c.2582 p.S861F 1.000 superfamily_ARM repeat superfamily_ARM repeat,HMMPfam_HEAT - no_errors CLTC 1213 genome.wustl.edu 36 17 55111644 55111644 + Missense_Mutation SNP G G C novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 17 55111644 55111644 G C SNP CLTC NM_004859 human genbank 54_36p +1 reviewed missense c.2901 p.R967S 1.000 HMMPfam_Clathrin,HMMSmart_SM00299,superfamily_ARM repeat superfamily_Clathrin heavy-chain terminal domain,HMMPfam_Clathrin_propel,HMMPfam_Clathrin-link,superfamily_ARM repeat,HMMPfam_Clathrin,HMMSmart_SM00299,superfamily_Protein prenylyltransferase - no_errors SPRYD5 84767 genome.wustl.edu 36 11 55409567 55409567 + Missense_Mutation SNP C C G novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 11 55409567 55409567 C G SNP SPRYD5 ENST00000327733 human ensembl 54_36p +1 known missense c.108 p.D36E 0.690 superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4 superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,HMMSmart_SM00336,HMMPfam_SPRY - no_start_codon OR8H3 390152 genome.wustl.edu 36 11 55646940 55646940 + Silent SNP C C T novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 11 55646940 55646940 C T SNP OR8H3 NM_001005201 human genbank 54_36p +1 provisional silent c.516 p.N172 0.029 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors SIGLEC12 89858 genome.wustl.edu 36 19 56695209 56695209 + Silent SNP G G T novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 19 56695209 56695209 G T SNP SIGLEC12 NM_053003 human genbank 54_36p -1 reviewed silent c.585 p.A195 0.001 HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408 superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_C2-set_2,HMMPfam_ig - no_errors TGS1 96764 genome.wustl.edu 36 8 56848767 56848767 + Missense_Mutation SNP G G A novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 8 56848767 56848767 G A SNP TGS1 NM_024831 human genbank 54_36p +1 validated missense c.36 p.M12I 0.926 NULL superfamily_S-adenosyl-L-methionine-dependent methyltransferases,HMMPfam_Methyltransf_15 - no_errors MYADM 91663 genome.wustl.edu 36 19 59069049 59069049 + Missense_Mutation SNP G G A novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 19 59069049 59069049 G A SNP MYADM NM_001020818 human genbank 54_36p +1 validated missense c.454 p.A152T 0.028 HMMPfam_MARVEL HMMPfam_MARVEL - no_errors DNAJC5 80331 genome.wustl.edu 36 20 62030217 62030217 + Silent SNP C C T novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 20 62030217 62030217 C T SNP DNAJC5 NM_025219 human genbank 54_36p +1 provisional silent c.75 p.N25 0.881 superfamily_Chaperone J-domain,HMMSmart_SM00271,HMMPfam_DnaJ superfamily_Chaperone J-domain,HMMSmart_SM00271,HMMPfam_DnaJ,PatternScan_DNAJ_1 - no_errors NRXN2 9379 genome.wustl.edu 36 11 64175551 64175551 + Silent SNP C C T novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 11 64175551 64175551 C T SNP NRXN2 NM_015080 human genbank 54_36p -1 reviewed silent c.2670 p.Q890 0.996 superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2 superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2,HMMSmart_SM00181,HMMPfam_EGF,HMMSmart_SM00294 - no_errors VSIG4 11326 genome.wustl.edu 36 X 65170310 65170310 + Missense_Mutation SNP C C G novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff X 65170310 65170310 C G SNP VSIG4 NM_007268 human genbank 54_36p -1 validated missense c.143 p.G48A 0.626 superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409,HMMSmart_SM00406 superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409,HMMSmart_SM00406,HMMSmart_SM00408,HMMPfam_ig - no_errors LOC442572 442572 genome.wustl.edu 36 7 66388750 66388750 + Missense_Mutation SNP C C T novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 7 66388750 66388750 C T SNP LOC442572 XM_499314 human genbank 54_36p +1 model missense c.965 p.P322L 0.000 NULL NULL - no_errors SLC8A3 6547 genome.wustl.edu 36 14 69703445 69703445 + Missense_Mutation SNP C C G novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 14 69703445 69703445 C G SNP SLC8A3 NM_183002 human genbank 54_36p -1 reviewed missense c.1448 p.R483T 1.000 HMMSmart_SM00237,HMMPfam_Calx-beta HMMPfam_Na_Ca_ex,HMMSmart_SM00237,HMMPfam_Calx-beta - no_errors BAI3 577 genome.wustl.edu 36 6 69723316 69723316 + Silent SNP C C A novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 6 69723316 69723316 C A SNP BAI3 NM_001704 human genbank 54_36p +1 reviewed silent c.1419 p.G473 0.336 superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1 superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMSmart_SM00008,HMMPfam_HRM,HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2 - no_errors CSPG4 1464 genome.wustl.edu 36 15 73762116 73762116 + Missense_Mutation SNP C T T novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 15 73762116 73762116 C T SNP CSPG4 NM_001897 human genbank 54_36p -1 reviewed missense c.4670 p.R1557H 0.207 NULL superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2,PatternScan_ATPASE_ALPHA_BETA - no_errors EEF1A1 1915 genome.wustl.edu 36 6 74285932 74285932 + Nonsense_Mutation SNP C C T novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 6 74285932 74285932 C T SNP EEF1A1 NM_001402 human genbank 54_36p -1 reviewed nonsense c.173 p.W58* 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_GTP_EFTU superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_GTP_EFTU,PatternScan_EFACTOR_GTP,superfamily_Translation proteins,HMMPfam_GTP_EFTU_D2,HMMPfam_GTP_EFTU_D3,superfamily_EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain - no_errors IDH3A 3419 genome.wustl.edu 36 15 76239582 76239582 + Nonsense_Mutation SNP A A T novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 15 76239582 76239582 A T SNP IDH3A NM_005530 human genbank 54_36p +1 reviewed nonsense c.268 p.K90* 1.000 superfamily_Isocitrate/Isopropylmalate dehydrogenase-like,HMMPfam_Iso_dh superfamily_Isocitrate/Isopropylmalate dehydrogenase-like,HMMPfam_Iso_dh,PatternScan_IDH_IMDH - no_errors HGS 9146 genome.wustl.edu 36 17 77271365 77271365 + Missense_Mutation SNP G T T novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 17 77271365 77271365 G T SNP HGS NM_004712 human genbank 54_36p +1 provisional missense c.901 p.A301S 0.992 NULL HMMPfam_VHS,superfamily_ENTH/VHS domain,HMMSmart_SM00288,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00064,HMMPfam_FYVE,HMMPfam_UIM - no_errors HGS 9146 genome.wustl.edu 36 17 77271366 77271366 + Missense_Mutation SNP C T T novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 17 77271366 77271366 C T SNP HGS NM_004712 human genbank 54_36p +1 provisional missense c.902 p.A301V 0.994 NULL HMMPfam_FYVE,HMMSmart_SM00064,HMMPfam_VHS,HMMPfam_UIM,superfamily_ENTH/VHS domain,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00288 - no_errors CYSLTR1 10800 genome.wustl.edu 36 X 77415659 77415659 + Missense_Mutation SNP C C A novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff X 77415659 77415659 C A SNP CYSLTR1 NM_006639 human genbank 54_36p -1 reviewed missense c.241 p.V81F 0.998 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 - no_errors GPR174 84636 genome.wustl.edu 36 X 78314147 78314147 + Silent SNP A A C novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff X 78314147 78314147 A C SNP GPR174 NM_032553 human genbank 54_36p +1 provisional silent c.987 p.T329 0.019 NULL PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1 - no_errors EFTUD1 79631 genome.wustl.edu 36 15 80231058 80231058 + Missense_Mutation SNP T T G novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 15 80231058 80231058 T G SNP EFTUD1 NM_024580 human genbank 54_36p -1 validated missense c.2792 p.Q931P 0.010 superfamily_Ribosomal protein S5 domain 2-like superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_GTP_EFTU,superfamily_Translation proteins,superfamily_EF-G C-terminal domain-like,superfamily_Ribosomal protein S5 domain 2-like,HMMPfam_EFG_IV,HMMPfam_EFG_C - no_errors CYB5R4 51167 genome.wustl.edu 36 6 84676521 84676521 + Missense_Mutation SNP T T A novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 6 84676521 84676521 T A SNP CYB5R4 ENST00000369679 human ensembl 54_36p +1 known missense c.326 p.L109Q 0.008 NULL superfamily_Cytochrome b5-like heme/steroid binding domain,HMMPfam_Cyt-b5,PatternScan_CYTOCHROME_B5_1 - no_errors PRSS23 11098 genome.wustl.edu 36 11 86196629 86196629 + Missense_Mutation SNP C C T novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 11 86196629 86196629 C T SNP PRSS23 NM_007173 human genbank 54_36p +1 validated missense c.296 p.T99M 1.000 NULL superfamily_Trypsin-like serine proteases,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS - no_errors GTF2B 2959 genome.wustl.edu 36 1 89095741 89095741 + Nonsense_Mutation SNP G G A novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 1 89095741 89095741 G A SNP GTF2B NM_001514 human genbank 54_36p -1 reviewed nonsense c.553 p.R185* 0.998 superfamily_Cyclin-like,HMMSmart_SM00385,HMMPfam_TFIIB superfamily_Zinc beta-ribbon,HMMPfam_TFIIB_Zn_Ribbon,superfamily_Cyclin-like,HMMSmart_SM00385,HMMPfam_TFIIB,PatternScan_TFIIB - no_errors C9orf79 286234 genome.wustl.edu 36 9 89689925 89689925 + Missense_Mutation SNP G G A novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 9 89689925 89689925 G A SNP C9orf79 NM_178828 human genbank 54_36p +1 validated missense c.703 p.A235T 0.004 NULL NULL - no_errors LOC646784 646784 genome.wustl.edu 36 1 91262549 91262549 + RNA SNP G G A novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 1 91262549 91262549 G A SNP LOC646784 XR_017249 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene FAT3 120114 genome.wustl.edu 36 11 92174236 92174236 + Missense_Mutation SNP G G T novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 11 92174236 92174236 G T SNP FAT3 NM_001008781 human genbank 54_36p +1 validated missense c.8409 p.K2803N 1.000 superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like,HMMSmart_SM00112,PatternScan_CADHERIN_1 superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Concanavalin A-like lectins/glucanases,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMSmart_SM00282,HMMPfam_Laminin_G_2,HMMSmart_SM00179,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_CA,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2 - no_errors CHD1 1105 genome.wustl.edu 36 5 98252689 98252689 + Missense_Mutation SNP C C G novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 5 98252689 98252689 C G SNP CHD1 NM_001270 human genbank 54_36p -1 reviewed missense c.2334 p.E778D 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_Chromo domain-like,HMMSmart_SM00298,HMMPfam_Chromo,PatternScan_CHROMO_1,HMMSmart_SM00487,HMMPfam_SNF2_N,HMMSmart_SM00490,HMMPfam_Helicase_C,superfamily_Homeodomain-like - no_errors ARPC1B 10095 genome.wustl.edu 36 7 98822312 98822312 + Missense_Mutation SNP G G A novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 7 98822312 98822312 G A SNP ARPC1B NM_005720 human genbank 54_36p +1 reviewed missense c.133 p.V45M 1.000 superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40 superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40 - no_errors GPR15 2838 genome.wustl.edu 36 3 99733834 99733834 + Missense_Mutation SNP G G C novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 3 99733834 99733834 G C SNP GPR15 NM_005290 human genbank 54_36p +1 provisional missense c.267 p.W89C 1.000 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors COL17A1 1308 genome.wustl.edu 36 10 105788212 105788212 + Silent SNP C C T novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 10 105788212 105788212 C T SNP COL17A1 NM_000494 human genbank 54_36p -1 reviewed silent c.3012 p.P1004 0.777 NULL HMMPfam_Collagen - no_errors COG5 10466 genome.wustl.edu 36 7 106664176 106664176 + Silent SNP A A T novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 7 106664176 106664176 A T SNP COG5 NM_006348 human genbank 54_36p -1 validated silent c.2139 p.P713 0.998 NULL HMMPfam_COG5 - no_errors NPNT 255743 genome.wustl.edu 36 4 107083030 107083030 + Nonsense_Mutation SNP G G A novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 4 107083030 107083030 G A SNP NPNT NM_001033047 human genbank 54_36p +1 validated nonsense c.881 p.W294* 0.089 NULL superfamily_Growth factor receptor domain,HMMSmart_SM00181,HMMPfam_EGF_2,PatternScan_EGF_1,PatternScan_EGF_2,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_SM00179,PatternScan_ASX_HYDROXYL,superfamily_EGF/Laminin,HMMSmart_SM00137,HMMPfam_MAM - no_errors COL4A5 1287 genome.wustl.edu 36 X 107810629 107810629 + Missense_Mutation SNP G G C novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff X 107810629 107810629 G C SNP COL4A5 NM_033380 human genbank 54_36p +1 reviewed missense c.4007 p.G1336A 1.000 HMMPfam_Collagen HMMPfam_Collagen,superfamily_C-type_lectin_fold,HMMPfam_C4,HMMSmart_C4 - no_errors IRS4 8471 genome.wustl.edu 36 X 107863705 107863705 + Missense_Mutation SNP G G T novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff X 107863705 107863705 G T SNP IRS4 NM_003604 human genbank 54_36p -1 reviewed missense c.2526 p.D842E 0.279 NULL superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,HMMPfam_IRS,HMMSmart_PTBI - no_errors RAB20 55647 genome.wustl.edu 36 13 109974092 109974092 + Missense_Mutation SNP C C A novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 13 109974092 109974092 C A SNP RAB20 NM_017817 human genbank 54_36p -1 provisional missense c.626 p.R209I 0.952 superfamily_P-loop containing nucleoside triphosphate hydrolases superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00173,HMMPfam_Ras,HMMSmart_SM00175,HMMSmart_SM00174 - no_errors MUSK 4593 genome.wustl.edu 36 9 112602595 112602595 + Missense_Mutation SNP G G A novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 9 112602595 112602595 G A SNP MUSK NM_005592 human genbank 54_36p +1 validated missense c.2116 p.A706T 1.000 superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220 PatternScan_TUBULIN_B_AUTOREG,superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_Fz,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR - no_errors OR2K2 26248 genome.wustl.edu 36 9 113130412 113130412 + Silent SNP G G T novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 9 113130412 113130412 G T SNP OR2K2 NM_205859 human genbank 54_36p -1 provisional silent c.123 p.G41 0.539 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors TDRD1 56165 genome.wustl.edu 36 10 115970593 115970593 + Splice_Site SNP G G T novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 10 115970593 115970593 G T SNP TDRD1 NM_198795 human genbank 54_36p +1 reviewed splice_site c.2770+1 e18+1 0.969 - - - no_errors SLC25A43 203427 genome.wustl.edu 36 X 118471038 118471038 + Silent SNP T T C novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff X 118471038 118471038 T C SNP SLC25A43 NM_145305 human genbank 54_36p +1 provisional silent c.1008 p.P336 0.236 NULL superfamily_Mitochondrial carrier,HMMPfam_Mito_carr - no_errors XIAP 331 genome.wustl.edu 36 X 122862033 122862033 + Missense_Mutation SNP T T C novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff X 122862033 122862033 T C SNP XIAP NM_001167 human genbank 54_36p +1 reviewed missense c.1109 p.I370T 0.121 superfamily_SSF57924 PatternScan_ZF_RING_1,superfamily_SSF57924,HMMSmart_BIR,PatternScan_BIR_REPEAT_1,HMMPfam_BIR,HMMSmart_RING - no_errors OR10G8 219869 genome.wustl.edu 36 11 123406350 123406350 + Missense_Mutation SNP G G T novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 11 123406350 123406350 G T SNP OR10G8 NM_001004464 human genbank 54_36p +1 provisional missense c.811 p.V271L 0.126 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 - no_errors ADAM12 8038 genome.wustl.edu 36 10 127796682 127796682 + Missense_Mutation SNP C C T novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 10 127796682 127796682 C T SNP ADAM12 NM_003474 human genbank 54_36p -1 reviewed missense c.527 p.R176Q 0.005 NULL "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,HMMPfam_Disintegrin,HMMSmart_SM00050,superfamily_Blood coagulation inhibitor (disintegrin),PatternScan_DISINTEGRIN_1,HMMSmart_SM00608,HMMPfam_ADAM_CR,HMMPfam_EGF_2" - no_errors XPNPEP2 7512 genome.wustl.edu 36 X 128708379 128708379 + Silent SNP G G C novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff X 128708379 128708379 G C SNP XPNPEP2 ENST00000371105 human ensembl 54_36p +1 known silent c.531 p.T177 0.000 NULL superfamily_SSF53092,HMMPfam_Creatinase_N - no_errors PTGES2 80142 genome.wustl.edu 36 9 129924514 129924514 + Missense_Mutation SNP A A C novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 9 129924514 129924514 A C SNP PTGES2 NM_025072 human genbank 54_36p -1 reviewed missense c.953 p.V318G 1.000 superfamily_GST_C_like,HMMPfam_GST_C superfamily_Thiordxn-like_fd,HMMPfam_Glutaredoxin,PatternScan_GLUTAREDOXIN_1,superfamily_GST_C_like,HMMPfam_GST_C - no_errors A4GNT 51146 genome.wustl.edu 36 3 139325902 139325902 + Missense_Mutation SNP G G A novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 3 139325902 139325902 G A SNP A4GNT NM_016161 human genbank 54_36p -1 reviewed missense c.917 p.T306I 0.974 HMMPfam_Gb3_synth HMMPfam_Gly_transf_sug,HMMPfam_Gb3_synth - no_errors ZMAT2 153527 genome.wustl.edu 36 5 140060239 140060239 + Missense_Mutation SNP G G C novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 5 140060239 140060239 G C SNP ZMAT2 NM_144723 human genbank 54_36p +1 provisional missense c.10 p.G4R 1.000 NULL HMMSmart_SM00451,superfamily_C2H2 and C2HC zinc fingers,PatternScan_ZINC_FINGER_C2H2_1 - no_errors CACNA1B 774 genome.wustl.edu 36 9 140087829 140087829 + Silent SNP G G A novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 9 140087829 140087829 G A SNP CACNA1B NM_000718 human genbank 54_36p +1 validated silent c.4743 p.Q1581 1.000 superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ - no_errors PCDHB2 56133 genome.wustl.edu 36 5 140456450 140456450 + Missense_Mutation SNP T T G novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 5 140456450 140456450 T G SNP PCDHB2 NM_018936 human genbank 54_36p +1 reviewed missense c.1892 p.L631R 0.003 superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA HMMPfam_Cadherin_2,superfamily_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin - no_errors PCDHB8 56128 genome.wustl.edu 36 5 140539551 140539551 + Silent SNP C C G novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 5 140539551 140539551 C G SNP PCDHB8 NM_019120 human genbank 54_36p +1 reviewed silent c.1752 p.G584 0.983 superfamily_Cadherin,HMMPfam_Cadherin HMMPfam_Cadherin_2,superfamily_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin - no_errors FLJ43860 389690 genome.wustl.edu 36 8 142546725 142546725 + Missense_Mutation SNP T T C novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 8 142546725 142546725 T C SNP FLJ43860 NM_207414 human genbank 54_36p -1 validated missense c.2278 p.M760V 0.208 superfamily_ARM repeat superfamily_ARM repeat,HMMPfam_HEAT - pseudogene GJA8 2703 genome.wustl.edu 36 1 145847615 145847615 + Silent SNP G G A novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 1 145847615 145847615 G A SNP GJA8 NM_005267 human genbank 54_36p +1 validated silent c.909 p.K303 0.912 HMMPfam_Connexin50 HMMPfam_Connexin,HMMSmart_CNX,PatternScan_CONNEXINS_1,HMMPfam_Connexin_CCC,PatternScan_CONNEXINS_2,HMMPfam_Connexin50 - no_errors GABRA3 2556 genome.wustl.edu 36 X 151087640 151087640 + Missense_Mutation SNP C C T novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff X 151087640 151087640 C T SNP GABRA3 NM_000808 human genbank 54_36p -1 reviewed missense c.1195 p.V399M 1.000 superfamily_Neu_channel_TM,HMMPfam_Neur_chan_memb superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neu_channel_TM,HMMPfam_Neur_chan_memb - no_errors PLEKHG1 57480 genome.wustl.edu 36 6 151193879 151193879 + Missense_Mutation SNP G G C novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 6 151193879 151193879 G C SNP PLEKHG1 NM_001029884 human genbank 54_36p +1 provisional missense c.1939 p.G647R 0.995 NULL superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233 - no_errors MED12L 116931 genome.wustl.edu 36 3 152585533 152585533 + Missense_Mutation SNP A A G novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 3 152585533 152585533 A G SNP MED12L NM_053002 human genbank 54_36p +1 validated missense c.4847 p.E1616G 1.000 NULL HMMPfam_Med12 - no_errors SYNE1 23345 genome.wustl.edu 36 6 152713016 152713016 + Missense_Mutation SNP G G C novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 6 152713016 152713016 G C SNP SYNE1 NM_182961 human genbank 54_36p -1 reviewed missense c.11881 p.Q3961E 1.000 superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150 superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_SM00033,PatternScan_ACTININ_2,superfamily_Spectrin repeat,HMMSmart_SM00150,HMMPfam_Spectrin,HMMPfam_KASH - no_errors MFAP3 4238 genome.wustl.edu 36 5 153413429 153413429 + Missense_Mutation SNP A A C novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 5 153413429 153413429 A C SNP MFAP3 NM_005927 human genbank 54_36p +1 validated missense c.1052 p.N351T 0.003 NULL superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig - no_errors ITK 3702 genome.wustl.edu 36 5 156591974 156591974 + Missense_Mutation SNP T T G novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 5 156591974 156591974 T G SNP ITK NM_005546 human genbank 54_36p +1 reviewed missense c.760 p.L254V 0.949 superfamily_SH3-domain,superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2 superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMSmart_SM00107,HMMPfam_BTK,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR - no_errors SPTA1 6708 genome.wustl.edu 36 1 156921664 156921664 + Missense_Mutation SNP C C T novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 1 156921664 156921664 C T SNP SPTA1 NM_003126 human genbank 54_36p -1 reviewed missense c.122 p.R41Q 1.000 superfamily_Spectrin repeat,HMMPfam_Spectrin superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_EF-hand,HMMPfam_efhand_Ca_insen - no_errors CLCN3 1182 genome.wustl.edu 36 4 170837899 170837899 + Missense_Mutation SNP G G A novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 4 170837899 170837899 G A SNP CLCN3 NM_173872 human genbank 54_36p +1 validated missense c.284 p.R95Q 0.992 NULL superfamily_Cl-channel_core,HMMPfam_Voltage_CLC,HMMPfam_CBS,HMMSmart_CBS,superfamily_SSF54631 - no_errors TTN 7273 genome.wustl.edu 36 2 179203287 179203287 + Missense_Mutation SNP C C G novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 2 179203287 179203287 C G SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.32153 p.C10718S 0.997 HMMSmart_SM00409,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,HMMPfam_I-set,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_IG_MHC,HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,HMMPfam_PPAK,PatternScan_PROTEIN_KINASE_TYR,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Protein kinase-like (PK-like),superfamily_WD40 repeat-like,HMMPfam_I-set,HMMPfam_ig,HMMPfam_Titin_Z,HMMPfam_Pkinase,PatternScan_FGGY_KINASES_1,PatternScan_PEROXIDASE_1,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses - no_errors TTN 7273 genome.wustl.edu 36 2 179290160 179290160 + Missense_Mutation SNP G G T novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 2 179290160 179290160 G T SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.21814 p.L7272I 1.000 HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,HMMPfam_I-set,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_IG_MHC,HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,HMMPfam_PPAK,PatternScan_PROTEIN_KINASE_TYR,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Protein kinase-like (PK-like),superfamily_WD40 repeat-like,HMMPfam_I-set,HMMPfam_ig,HMMPfam_Titin_Z,HMMPfam_Pkinase,PatternScan_FGGY_KINASES_1,PatternScan_PEROXIDASE_1,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses - no_errors ZNF804A 91752 genome.wustl.edu 36 2 185509016 185509016 + Missense_Mutation SNP T T G novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 2 185509016 185509016 T G SNP ZNF804A NM_194250 human genbank 54_36p +1 provisional missense c.648 p.F216L 1.000 NULL HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors WDR75 84128 genome.wustl.edu 36 2 190035503 190035503 + Missense_Mutation SNP G G A novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 2 190035503 190035503 G A SNP WDR75 NM_032168 human genbank 54_36p +1 provisional missense c.827 p.R276H 0.754 superfamily_WD40_like,HMMSmart_WD40 PatternScan_WD_REPEATS_1,HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 - no_errors PPP1R15B 84919 genome.wustl.edu 36 1 202645333 202645333 + Missense_Mutation SNP C C G novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 1 202645333 202645333 C G SNP PPP1R15B NM_032833 human genbank 54_36p -1 validated missense c.1830 p.Q610H 0.302 HMMPfam_PP1c_bdg HMMPfam_CReP_N,HMMPfam_PP1c_bdg - no_errors OPN3 23596 genome.wustl.edu 36 1 239827735 239827735 + Missense_Mutation SNP G G C novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 1 239827735 239827735 G C SNP OPN3 NM_014322 human genbank 54_36p -1 reviewed missense c.881 p.S294W 1.000 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_OPSIN superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,PatternScan_OPSIN - no_errors RNF151 146310 genome.wustl.edu 36 16 1958850 1958851 + Frame_Shift_Ins INS - - C novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 16 1958850 1958851 - C INS RNF151 NM_174903 human genbank 54_36p +1 provisional frame_shift_ins c.661_662 p.E221fs 0.849:0.822 NULL superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,superfamily_Traf_like - no_errors SMG1 23049 genome.wustl.edu 36 16 18782579 18782601 + Frame_Shift_Del DEL TTGAGATGTAGCACTCACATGCT TTGAGATGTAGCACTCACATGCT - novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 TTGAGATGTAGCACTCACATGCT TTGAGATGTAGCACTCACATGCT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 16 18782579 18782601 TTGAGATGTAGCACTCACATGCT - DEL SMG1 NM_015092 human genbank 54_36p -1 reviewed frame_shift_del c.3589_3567 p.K1189fs 0.817:0.588:0.993:0.994:0.987:0.999:1.000:1.000:1.000:1.000:0.999:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.996:0.921:1.000:1.000:0.998 superfamily_ARM repeat superfamily_ARM repeat,HMMPfam_HEAT,superfamily_Protein kinase-like (PK-like),HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,PatternScan_PI3_4_KINASE_2,HMMPfam_FATC (deletion:cds_exon[18782473,18782674]) no_errors MED15 51586 genome.wustl.edu 36 22 19250813 19250814 + In_Frame_Ins INS - - CAG novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 22 19250813 19250814 - CAG INS MED15 NM_001003891 human genbank 54_36p +1 reviewed in_frame_ins c.750_751 p.254in_frame_insQ 0.997:0.998 NULL HMMPfam_ARC105_Med_act - no_errors RPL14 9045 genome.wustl.edu 36 3 40478524 40478525 + In_Frame_Ins INS - - CTGCTG novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 3 40478524 40478525 - CTGCTG INS RPL14 NM_001034996 human genbank 54_36p +1 reviewed in_frame_ins c.445_446 p.153in_frame_insAA 0.360:0.270 NULL HMMPfam_Ribosomal_L14e - no_errors LOC728115 728115 genome.wustl.edu 36 18 55834885 55834893 + RNA DEL AAAAAAAAA AAAAAAAAA - novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 AAAAAAAAA AAAAAAAAA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 18 55834885 55834893 AAAAAAAAA - DEL LOC728115 XR_038858 human genbank 54_36p -1 model rna NULL NULL 0.023:0.025:0.028:0.029:0.031:0.032:0.033:0.033:0.033 - - (deletion:rna[55832836,55835854]) pseudogene CTTNBP2 83992 genome.wustl.edu 36 7 117219083 117219084 + Frame_Shift_Ins INS - - T novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 7 117219083 117219084 - T INS CTTNBP2 NM_033427 human genbank 54_36p -1 reviewed frame_shift_ins c.1403_1402 p.S468fs 1.000:1.000 HMMPfam_CortBP2 HMMPfam_CortBP2,superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank - no_errors CNTNAP5 129684 genome.wustl.edu 36 2 124948826 124948826 + Frame_Shift_Del DEL C C - novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 2 124948826 124948826 C - DEL CNTNAP5 NM_130773 human genbank 54_36p +1 reviewed frame_shift_del c.959 p.L322fs 1.000 superfamily_ConA_like_lec_gl,HMMSmart_LamG,HMMPfam_Laminin_G_2 PatternScan_FA58C_1,PatternScan_FIBRIN_AG_C_DOMAIN,PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_FA58C,superfamily_Gal_bind_like,HMMPfam_F5_F8_type_C,PatternScan_FA58C_2,superfamily_ConA_like_lec_gl,HMMSmart_LamG,HMMPfam_Laminin_G_2,HMMSmart_EGF,HMMPfam_EGF,superfamily_Fibrinogen_a/b/g_C (deletion:cds_exon[124948786,124948926]) no_errors LARP1 23367 genome.wustl.edu 36 5 154152528 154152529 + Frame_Shift_Ins INS - - A novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 5 154152528 154152529 - A INS LARP1 NM_033551 human genbank 54_36p +1 validated frame_shift_ins c.718_719 p.R240fs 0.999:0.986 NULL "superfamily_""Winged helix"" DNA-binding domain,HMMSmart_SM00715,HMMPfam_La,PatternScan_CYTOCHROME_B5_1,HMMSmart_SM00684" - no_errors TIAM2 26230 genome.wustl.edu 36 6 155619863 155619863 + Frame_Shift_Del DEL A A - novel unknown TCGA-30-1718-01A-01W-0633-09 TCGA-30-1718-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 12be6c2a-d39a-405a-ba8e-9c22bc759202 637618e3-c2a3-416b-82c1-a86b025e8bff 6 155619863 155619863 A - DEL TIAM2 NM_012454 human genbank 54_36p +1 reviewed frame_shift_del c.5022 p.E1675fs 0.821 NULL superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMSmart_SM00455,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,PatternScan_DH_1 (deletion:cds_exon[155619310,155619947]) no_errors