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 LOC644132 644132 genome.wustl.edu 36 17 177536 177536 + RNA SNP C T T novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 17 177536 177536 C T SNP LOC644132 XR_017532 human genbank 54_36p -1 model rna NULL NULL 0.000 - - - pseudogene TP53 7157 genome.wustl.edu 36 17 7517822 7517822 + Missense_Mutation SNP C C A novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 17 7517822 7517822 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.841 p.D281Y 1.000 HMMPfam_P53,superfamily_p53-like transcription factors HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain - no_errors KIDINS220 57498 genome.wustl.edu 36 2 8807871 8807871 + Missense_Mutation SNP T T C novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 2 8807871 8807871 T C SNP KIDINS220 NM_020738 human genbank 54_36p -1 validated missense c.3236 p.Y1079C 0.995 NULL superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,HMMPfam_KAP_NTPase,superfamily_SAM/Pointed domain - no_errors PIK3CD 5293 genome.wustl.edu 36 1 9702809 9702809 + Missense_Mutation SNP C C A novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 1 9702809 9702809 C A SNP PIK3CD NM_005026 human genbank 54_36p +1 validated missense c.1392 p.N464K 1.000 superfamily_C2_CaLB,HMMPfam_PI3K_C2 HMMPfam_PI3K_p85B,HMMSmart_PI3K_p85B,superfamily_SSF54236,HMMPfam_PI3K_rbd,HMMSmart_PI3K_rbd,HMMSmart_PI3K_C2,superfamily_C2_CaLB,HMMPfam_PI3K_C2,superfamily_ARM-type_fold,HMMSmart_PI3Ka,HMMPfam_PI3Ka,superfamily_Kinase_like,HMMPfam_PI3_PI4_kinase,HMMSmart_PI3Kc,PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2 - no_errors OFCC1 266553 genome.wustl.edu 36 6 10016754 10016754 + Missense_Mutation SNP G G A novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 6 10016754 10016754 G A SNP OFCC1 NM_153003 human genbank 54_36p -1 provisional missense c.326 p.T109M 1.000 NULL NULL - no_errors ZNF18 7566 genome.wustl.edu 36 17 11835077 11835077 + Silent SNP T T G novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 17 11835077 11835077 T G SNP ZNF18 NM_144680 human genbank 54_36p -1 provisional silent c.516 p.S172 0.000 NULL HMMPfam_SCAN,HMMSmart_SM00431,HMMPfam_KRAB,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors HOOK2 29911 genome.wustl.edu 36 19 12736679 12736679 + Silent SNP G G A novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 19 12736679 12736679 G A SNP HOOK2 NM_013312 human genbank 54_36p -1 validated silent c.1776 p.D592 1.000 HMMPfam_HOOK HMMPfam_HOOK - no_errors PRAMEF1 65121 genome.wustl.edu 36 1 12778277 12778277 + Missense_Mutation SNP C C T novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 1 12778277 12778277 C T SNP PRAMEF1 NM_023013 human genbank 54_36p +1 provisional missense c.970 p.H324Y 0.001 superfamily_SSF52047 superfamily_SSF52047 - no_errors IQSEC1 9922 genome.wustl.edu 36 3 12941207 12941207 + Missense_Mutation SNP C C T novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 3 12941207 12941207 C T SNP IQSEC1 NM_014869 human genbank 54_36p -1 validated missense c.1646 p.R549H 0.999 superfamily_Sec7 domain,HMMPfam_Sec7,HMMSmart_SM00222 superfamily_Sec7 domain,HMMPfam_Sec7,HMMSmart_SM00222,superfamily_PH domain-like,HMMSmart_SM00233 - no_errors GRIN2B 2904 genome.wustl.edu 36 12 13659770 13659770 + Missense_Mutation SNP G G T novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 12 13659770 13659770 G T SNP GRIN2B NM_000834 human genbank 54_36p -1 reviewed missense c.1424 p.T475N 1.000 superfamily_SSF53850,HMMSmart_PBPe,HMMPfam_Lig_chan-Glu_bd superfamily_SSF53822,superfamily_SSF53850,HMMSmart_PBPe,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan,HMMPfam_NMDAR2_C - no_errors TRIO 7204 genome.wustl.edu 36 5 14459748 14459748 + Silent SNP A A G novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 5 14459748 14459748 A G SNP TRIO NM_007118 human genbank 54_36p +1 validated silent c.4926 p.S1642 0.638 superfamily_SH3-domain superfamily_CRAL/TRIO domain,HMMSmart_SM00516,HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat,superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST - no_errors TXNRD2 10587 genome.wustl.edu 36 22 18245679 18245679 + Missense_Mutation SNP A A C novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 22 18245679 18245679 A C SNP TXNRD2 ENST00000400516 human ensembl 54_36p -1 known missense c.1379 p.V460G 1.000 superfamily_FAD/NAD-linked reductases dimerisation (C-terminal) domain,HMMPfam_Pyr_redox_dim superfamily_FAD/NAD(P)-binding domain,HMMPfam_Pyr_redox_2,PatternScan_PYRIDINE_REDOX_1,superfamily_FAD/NAD-linked reductases dimerisation (C-terminal) domain,HMMPfam_Pyr_redox_dim - no_errors LOC645771 645771 genome.wustl.edu 36 13 18874651 18874651 + RNA SNP G G A novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 13 18874651 18874651 G A SNP LOC645771 XR_017036 human genbank 54_36p +1 model rna NULL NULL 0.387 - - - pseudogene HERC2P2 400322 genome.wustl.edu 36 15 20869974 20869974 + RNA SNP C C A novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 15 20869974 20869974 C A SNP HERC2P2 NR_002824 human genbank 54_36p -1 validated rna NULL NULL 1.000 - - - pseudogene MUC15 143662 genome.wustl.edu 36 11 26539216 26539216 + Missense_Mutation SNP T T C novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 11 26539216 26539216 T C SNP MUC15 NM_145650 human genbank 54_36p -1 validated missense c.977 p.D326G 0.946 NULL NULL - no_errors EOMES 8320 genome.wustl.edu 36 3 27738024 27738024 + Missense_Mutation SNP C C T novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 3 27738024 27738024 C T SNP EOMES NM_005442 human genbank 54_36p -1 reviewed missense c.766 p.G256R 1.000 NULL HMMSmart_TBOX,superfamily_P53_like_DNA_bnd,HMMPfam_T-box,PatternScan_TBOX_1,PatternScan_TBOX_2 - no_errors C2orf71 388939 genome.wustl.edu 36 2 29150407 29150407 + Silent SNP A A G novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 2 29150407 29150407 A G SNP C2orf71 NM_001029883 human genbank 54_36p -1 predicted silent c.225 p.C75 0.001 NULL NULL - no_errors HCG4 54435 genome.wustl.edu 36 6 29868514 29868514 + RNA SNP G A A novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 6 29868514 29868514 G A SNP HCG4 NR_002139 human genbank 54_36p -1 validated rna NULL NULL 0.014 - - - pseudogene KIFC1 3833 genome.wustl.edu 36 6 33480730 33480730 + Missense_Mutation SNP G G C novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 6 33480730 33480730 G C SNP KIFC1 NM_002263 human genbank 54_36p +1 validated missense c.880 p.E294Q 0.965 superfamily_SSF52540 superfamily_SSF52540,HMMSmart_KISc,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1 - no_errors MYH9 4627 genome.wustl.edu 36 22 35042630 35042630 + Missense_Mutation SNP C C A novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 22 35042630 35042630 C A SNP MYH9 NM_002473 human genbank 54_36p -1 reviewed missense c.1258 p.A420S 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head HMMPfam_Myosin_N,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head,HMMSmart_SM00015,HMMPfam_IQ,superfamily_Prefoldin,HMMPfam_Myosin_tail_1,superfamily_Regulator of G-protein signaling RGS - no_errors TRIOBP 11078 genome.wustl.edu 36 22 36451137 36451137 + Missense_Mutation SNP G G T novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 22 36451137 36451137 G T SNP TRIOBP NM_001039141 human genbank 54_36p +1 reviewed missense c.2628 p.E876D 0.025 NULL HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like - no_errors TTC21A 199223 genome.wustl.edu 36 3 39145314 39145314 + Missense_Mutation SNP C C G novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 3 39145314 39145314 C G SNP TTC21A NM_001105513 human genbank 54_36p +1 validated missense c.1807 p.P603A 0.148 superfamily_TPR-like,HMMSmart_SM00028 superfamily_TPR-like,HMMPfam_TPR_1,HMMSmart_SM00028 - no_errors LOC644315 644315 genome.wustl.edu 36 17 42154579 42154579 + RNA SNP C C G novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 17 42154579 42154579 C G SNP LOC644315 XR_017529 human genbank 54_36p -1 model rna NULL NULL 0.999 - - - pseudogene LOC644397 644397 genome.wustl.edu 36 17 42450036 42450036 + RNA SNP T T C novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 17 42450036 42450036 T C SNP LOC644397 XR_042323 human genbank 54_36p +1 model rna NULL NULL 0.123 - - - pseudogene CCDC13 152206 genome.wustl.edu 36 3 42773687 42773687 + Missense_Mutation SNP T T A novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 3 42773687 42773687 T A SNP CCDC13 NM_144719 human genbank 54_36p -1 validated missense c.245 p.H82L 0.998 NULL NULL - no_errors MPL 4352 genome.wustl.edu 36 1 43576486 43576486 + Missense_Mutation SNP C C T rs61754776 unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 1 43576486 43576486 C T SNP MPL NM_005373 human genbank 54_36p +1 reviewed missense c.209 p.P70L 0.968 superfamily_Fibronectin type III,HMMPfam_EpoR_lig-bind superfamily_Fibronectin type III,HMMPfam_EpoR_lig-bind,HMMPfam_fn3,HMMSmart_SM00060,PatternScan_HEMATOPO_REC_L_F1 - no_errors SPTBN4 57731 genome.wustl.edu 36 19 45695317 45695317 + Missense_Mutation SNP G G T novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 19 45695317 45695317 G T SNP SPTBN4 NM_020971 human genbank 54_36p +1 reviewed missense c.750 p.Q250H 1.000 superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,HMMSmart_SM00033 superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_SM00033,PatternScan_ACTININ_2,superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233 - no_errors RAD54L 8438 genome.wustl.edu 36 1 46505782 46505782 + Missense_Mutation SNP G G A novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 1 46505782 46505782 G A SNP RAD54L NM_003579 human genbank 54_36p +1 reviewed missense c.956 p.R319Q 1.000 HMMSmart_DEXDc,superfamily_SSF52540,HMMPfam_SNF2_N HMMSmart_DEXDc,superfamily_SSF52540,HMMPfam_SNF2_N,HMMSmart_HELICc,HMMPfam_Helicase_C - no_errors CYP4A22 284541 genome.wustl.edu 36 1 47375886 47375886 + Missense_Mutation SNP C C T novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 1 47375886 47375886 C T SNP CYP4A22 NM_001010969 human genbank 54_36p +1 reviewed missense c.142 p.L48F 0.000 NULL HMMPfam_p450,superfamily_Cytochrome P450,PatternScan_CYTOCHROME_P450 - no_errors FAM21B 55747 genome.wustl.edu 36 10 47455544 47455544 + Silent SNP A A G novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 10 47455544 47455544 A G SNP FAM21B NM_018232 human genbank 54_36p +1 validated silent c.2082 p.L694 0.997 NULL NULL - no_errors PSG5 5673 genome.wustl.edu 36 19 48371241 48371241 + Silent SNP C C T novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 19 48371241 48371241 C T SNP PSG5 NM_002781 human genbank 54_36p -1 validated silent c.930 p.K310 0.000 superfamily_SSF48726 HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig,HMMSmart_IGc2 - no_errors FOSB 2354 genome.wustl.edu 36 19 50668066 50668066 + Missense_Mutation SNP C C A novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 19 50668066 50668066 C A SNP FOSB NM_006732 human genbank 54_36p +1 reviewed missense c.973 p.Q325K 1.000 NULL PatternScan_SUBTILASE_SER,HMMSmart_SM00338,HMMPfam_bZIP_2,PatternScan_BZIP_BASIC - no_errors IQSEC2 23096 genome.wustl.edu 36 X 53285194 53285194 + Missense_Mutation SNP T T C novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c X 53285194 53285194 T C SNP IQSEC2 NM_015075 human genbank 54_36p -1 validated missense c.2408 p.K803R 1.000 superfamily_SSF50729,HMMSmart_PH superfamily_Sec7,HMMPfam_Sec7,HMMSmart_Sec7,superfamily_SSF50729,HMMSmart_PH - no_errors LOC729789 729789 genome.wustl.edu 36 3 54635560 54635560 + Silent SNP G G T novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 3 54635560 54635560 G T SNP LOC729789 XM_001134147 human genbank 54_36p +1 model silent c.279 p.V93 1.000 HMMPfam_Ribosomal_S19,superfamily_Ribosomal protein S19 HMMPfam_Ribosomal_S19,superfamily_Ribosomal protein S19,PatternScan_RIBOSOMAL_S19 - pseudogene KLK1 3816 genome.wustl.edu 36 19 56014350 56014350 + Missense_Mutation SNP G G A novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 19 56014350 56014350 G A SNP KLK1 NM_002257 human genbank 54_36p -1 reviewed missense c.701 p.P234L 0.034 superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER - no_errors CNOT1 23019 genome.wustl.edu 36 16 57146656 57146656 + Missense_Mutation SNP C C G novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 16 57146656 57146656 C G SNP CNOT1 NM_016284 human genbank 54_36p -1 validated missense c.2891 p.R964T 1.000 NULL HMMPfam_Not1,PatternScan_LECTIN_LEGUME_BETA - no_errors TCN1 6947 genome.wustl.edu 36 11 59383302 59383302 + Missense_Mutation SNP C C T novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 11 59383302 59383302 C T SNP TCN1 NM_001062 human genbank 54_36p -1 reviewed missense c.571 p.A191T 0.800 HMMPfam_Cobalamin_bind,PatternScan_COBALAMIN_BINDING HMMPfam_Cobalamin_bind,PatternScan_ABC_TRANSPORTER_1,PatternScan_COBALAMIN_BINDING - no_errors MS4A8B 83661 genome.wustl.edu 36 11 60227464 60227464 + Missense_Mutation SNP T T G novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 11 60227464 60227464 T G SNP MS4A8B NM_031457 human genbank 54_36p +1 reviewed missense c.257 p.L86R 0.583 HMMPfam_CD20 HMMPfam_CD20 - no_errors CHD7 55636 genome.wustl.edu 36 8 61876690 61876690 + Missense_Mutation SNP G G A novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 8 61876690 61876690 G A SNP CHD7 NM_017780 human genbank 54_36p +1 reviewed missense c.2426 p.R809H 1.000 superfamily_Chromo domain-like,HMMSmart_SM00298,HMMPfam_Chromo superfamily_Chromo domain-like,HMMSmart_SM00298,HMMPfam_Chromo,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_SNF2_N,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_BRK,HMMSmart_SM00592 - no_errors ZNF772 400720 genome.wustl.edu 36 19 62680462 62680462 + Missense_Mutation SNP C C T novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 19 62680462 62680462 C T SNP ZNF772 NM_001024596 human genbank 54_36p -1 validated missense c.28 p.A10T 0.418 NULL superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2 - no_errors SLC22A9 114571 genome.wustl.edu 36 11 62894480 62894480 + Missense_Mutation SNP T T A novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 11 62894480 62894480 T A SNP SLC22A9 NM_080866 human genbank 54_36p +1 validated missense c.376 p.S126T 0.000 superfamily_MFS general substrate transporter superfamily_MFS general substrate transporter,HMMPfam_MFS_1 - no_errors SYNE2 23224 genome.wustl.edu 36 14 63759744 63759744 + Missense_Mutation SNP G G A novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 14 63759744 63759744 G A SNP SYNE2 NM_182914 human genbank 54_36p +1 validated missense c.20275 p.G6759R 0.582 superfamily_Spectrin,HMMPfam_Spectrin,HMMSmart_SPEC superfamily_Calponin-homology,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_CH,PatternScan_ACTININ_2,superfamily_Spectrin,HMMSmart_SPEC,HMMPfam_Spectrin,superfamily_4_helix_cytokine,HMMPfam_KASH - no_errors TET1 80312 genome.wustl.edu 36 10 70112643 70112643 + Silent SNP G G A novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 10 70112643 70112643 G A SNP TET1 NM_030625 human genbank 54_36p +1 validated silent c.4959 p.K1653 1.000 NULL HMMPfam_zf-CXXC - no_errors HKDC1 80201 genome.wustl.edu 36 10 70696387 70696387 + Silent SNP G G A novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 10 70696387 70696387 G A SNP HKDC1 NM_025130 human genbank 54_36p +1 validated silent c.2622 p.L874 0.993 HMMPfam_Hexokinase_2,superfamily_Actin-like ATPase domain HMMPfam_Hexokinase_1,superfamily_Actin-like ATPase domain,HMMPfam_Hexokinase_2,PatternScan_HEXOKINASES - no_errors IQGAP2 10788 genome.wustl.edu 36 5 76034160 76034160 + Missense_Mutation SNP C C G novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 5 76034160 76034160 C G SNP IQGAP2 NM_006633 human genbank 54_36p +1 validated missense c.4603 p.L1535V 1.000 NULL superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,HMMSmart_SM00033,PatternScan_WW_DOMAIN_1,HMMSmart_SM00015,HMMPfam_IQ,superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_GTPase activation domain GAP,HMMSmart_SM00323,HMMPfam_RasGAP,PatternScan_RAS_GTPASE_ACTIV_1,HMMPfam_RasGAP_C - no_errors CPSF2 53981 genome.wustl.edu 36 14 91670436 91670436 + Silent SNP G G A novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 14 91670436 91670436 G A SNP CPSF2 NM_017437 human genbank 54_36p +1 validated silent c.399 p.Q133 1.000 superfamily_Metallo-hydrolase/oxidoreductase superfamily_Metallo-hydrolase/oxidoreductase,HMMPfam_Lactamase_B,HMMPfam_RMMBL - no_errors TM9SF2 9375 genome.wustl.edu 36 13 98979838 98979838 + Silent SNP T T C novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 13 98979838 98979838 T C SNP TM9SF2 NM_004800 human genbank 54_36p +1 provisional silent c.450 p.Y150 1.000 HMMPfam_EMP70 HMMPfam_EMP70 - no_errors ZIC5 85416 genome.wustl.edu 36 13 99415733 99415733 + Missense_Mutation SNP C C T novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 13 99415733 99415733 C T SNP ZIC5 NM_033132 human genbank 54_36p -1 validated missense c.1891 p.A631T 1.000 NULL HMMSmart_SM00355,HMMPfam_zf-C2H2,superfamily_C2H2 and C2HC zinc fingers,PatternScan_ZINC_FINGER_C2H2_1 - no_errors ZNF3 7551 genome.wustl.edu 36 7 99507488 99507488 + Silent SNP G G A novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 7 99507488 99507488 G A SNP ZNF3 NM_032924 human genbank 54_36p -1 validated silent c.555 p.S185 0.008 superfamily_SSF57667 superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors RNF19A 25897 genome.wustl.edu 36 8 101369323 101369323 + Missense_Mutation SNP C C A novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 8 101369323 101369323 C A SNP RNF19A NM_015435 human genbank 54_36p -1 reviewed missense c.256 p.G86C 1.000 NULL superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,HMMPfam_IBR,HMMSmart_SM00647 - no_errors SUFU 51684 genome.wustl.edu 36 10 104349285 104349285 + Missense_Mutation SNP G G C novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 10 104349285 104349285 G C SNP SUFU NM_016169 human genbank 54_36p +1 provisional missense c.1016 p.R339P 1.000 HMMPfam_SUFU superfamily_Suppressor of Fused N-terminal domain,HMMPfam_SUFU - no_errors CD2 914 genome.wustl.edu 36 1 117112884 117112884 + Missense_Mutation SNP C C T novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 1 117112884 117112884 C T SNP CD2 NM_001767 human genbank 54_36p +1 validated missense c.1012 p.P338S 0.083 NULL HMMPfam_V-set,superfamily_Immunoglobulin,HMMPfam_C2-set - no_errors MLL 4297 genome.wustl.edu 36 11 117850211 117850211 + Missense_Mutation SNP C C G novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 11 117850211 117850211 C G SNP MLL NM_005933 human genbank 54_36p +1 validated missense c.3127 p.L1043V 1.000 NULL PatternScan_HMGI_Y,HMMPfam_AT_hook,HMMPfam_zf-CXXC,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,PatternScan_RECR,HMMSmart_SM00297,superfamily_Bromodomain,HMMPfam_FYRN,HMMSmart_SM00541,PatternScan_EF_HAND_1,HMMPfam_FYRC,HMMSmart_SM00542,superfamily_SET domain,HMMPfam_SET,HMMSmart_SM00317,HMMSmart_SM00508 - no_errors COL14A1 7373 genome.wustl.edu 36 8 121329064 121329064 + Silent SNP G G A novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 8 121329064 121329064 G A SNP COL14A1 NM_021110 human genbank 54_36p +1 validated silent c.2511 p.V837 0.842 HMMPfam_fn3,superfamily_Fibronectin type III,HMMSmart_SM00060 HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Collagen - no_errors PTPRZ1 5803 genome.wustl.edu 36 7 121425215 121425215 + Missense_Mutation SNP C C A novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 7 121425215 121425215 C A SNP PTPRZ1 NM_002851 human genbank 54_36p +1 reviewed missense c.1159 p.Q387K 1.000 superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3 superfamily_Carbonic anhydrase,HMMPfam_Carb_anhydrase,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1 - no_errors GLI2 2736 genome.wustl.edu 36 2 121464265 121464265 + Silent SNP C C T novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 2 121464265 121464265 C T SNP GLI2 NM_005270 human genbank 54_36p +1 reviewed silent c.4305 p.D1435 0.049 NULL superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors SNCAIP 9627 genome.wustl.edu 36 5 121787067 121787067 + Missense_Mutation SNP G G T novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 5 121787067 121787067 G T SNP SNCAIP NM_005460 human genbank 54_36p +1 reviewed missense c.736 p.G246C 0.851 NULL superfamily_ANK,HMMPfam_Ank,HMMSmart_ANK - no_errors KIAA1109 84162 genome.wustl.edu 36 4 123427270 123427270 + Missense_Mutation SNP G G C novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 4 123427270 123427270 G C SNP KIAA1109 NM_015312 human genbank 54_36p +1 validated missense c.9162 p.M3054I 1.000 NULL PatternScan_ASP_PROTEASE,HMMPfam_FSA_C - no_errors TNPO3 23534 genome.wustl.edu 36 7 128406340 128406340 + Missense_Mutation SNP C C A novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 7 128406340 128406340 C A SNP TNPO3 NM_012470 human genbank 54_36p -1 validated missense c.1994 p.C665F 1.000 superfamily_ARM repeat superfamily_ARM repeat,HMMPfam_Xpo1 - no_errors GARNL3 84253 genome.wustl.edu 36 9 129195313 129195313 + Missense_Mutation SNP C C G novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 9 129195313 129195313 C G SNP GARNL3 NM_032293 human genbank 54_36p +1 validated missense c.2947 p.L983V 0.995 NULL superfamily_Rap/Ran-GAP (Pfam 02145),HMMPfam_Rap_GAP,HMMSmart_SM00036,HMMPfam_CNH - no_errors RAPGEF6 51735 genome.wustl.edu 36 5 130792696 130792696 + Missense_Mutation SNP G G C novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 5 130792696 130792696 G C SNP RAPGEF6 NM_016340 human genbank 54_36p -1 provisional missense c.4578 p.H1526Q 1.000 NULL superfamily_cAMP-binding domain-like,HMMSmart_SM00100,HMMPfam_cNMP_binding,superfamily_Ras GEF,HMMSmart_SM00229,HMMPfam_RasGEF_N,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,HMMPfam_RA,HMMSmart_SM00314,HMMSmart_SM00147,HMMPfam_RasGEF - no_errors ADCY8 114 genome.wustl.edu 36 8 131928921 131928921 + Missense_Mutation SNP C C G novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 8 131928921 131928921 C G SNP ADCY8 NM_001115 human genbank 54_36p -1 reviewed missense c.2433 p.K811N 1.000 NULL HMMSmart_CYCc,superfamily_A/G_cyclase,HMMPfam_Guanylate_cyc,PatternScan_GUANYLATE_CYCLASE_1,HMMPfam_DUF1053 - no_errors PCDHGA12 26025 genome.wustl.edu 36 5 140792145 140792145 + Missense_Mutation SNP C C A novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 5 140792145 140792145 C A SNP PCDHGA12 NM_003735 human genbank 54_36p +1 reviewed missense c.1635 p.N545K 0.372 superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112 superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin - no_errors CYP11B1 1584 genome.wustl.edu 36 8 143957477 143957477 + Missense_Mutation SNP C C T novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 8 143957477 143957477 C T SNP CYP11B1 NM_000497 human genbank 54_36p -1 reviewed missense c.368 p.R123H 0.023 HMMPfam_p450,superfamily_Cytochrome_P450 HMMPfam_p450,superfamily_Cytochrome_P450,PatternScan_CYTOCHROME_P450 - no_errors ADAMTSL4 54507 genome.wustl.edu 36 1 148792551 148792551 + Missense_Mutation SNP C C G novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 1 148792551 148792551 C G SNP ADAMTSL4 NM_019032 human genbank 54_36p +1 reviewed missense c.460 p.P154A 1.000 NULL superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1,HMMPfam_PLAC - no_errors SYNE1 23345 genome.wustl.edu 36 6 152699823 152699823 + Missense_Mutation SNP G G T novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 6 152699823 152699823 G T SNP SYNE1 NM_182961 human genbank 54_36p -1 reviewed missense c.12374 p.A4125D 0.255 superfamily_Spectrin repeat 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 SYNE1 23345 genome.wustl.edu 36 6 152818843 152818843 + Silent SNP C C T novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 6 152818843 152818843 C T SNP SYNE1 NM_182961 human genbank 54_36p -1 reviewed silent c.2598 p.K866 1.000 superfamily_Spectrin repeat PatternScan_ACTININ_1,PatternScan_ACTININ_2,HMMPfam_CH,HMMSmart_SM00033,HMMPfam_Spectrin,HMMPfam_KASH,superfamily_Calponin-homology domain CH-domain,HMMSmart_SM00150,superfamily_Spectrin repeat - no_errors UBE3C 9690 genome.wustl.edu 36 7 156664237 156664237 + Missense_Mutation SNP T T G novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 7 156664237 156664237 T G SNP UBE3C NM_014671 human genbank 54_36p +1 validated missense c.551 p.V184G 1.000 NULL HMMSmart_SM00015,HMMPfam_IQ,superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT - no_errors ADAMTS4 9507 genome.wustl.edu 36 1 159431985 159431985 + Missense_Mutation SNP G G C novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 1 159431985 159431985 G C SNP ADAMTS4 NM_005099 human genbank 54_36p -1 reviewed missense c.1155 p.S385R 0.977 "superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin" "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,HMMSmart_SM00608,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1" - no_errors IGF2R 3482 genome.wustl.edu 36 6 160374056 160374056 + Missense_Mutation SNP G G T novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 6 160374056 160374056 G T SNP IGF2R NM_000876 human genbank 54_36p +1 reviewed missense c.1138 p.A380S 0.007 HMMPfam_CIMR,superfamily_Mannose 6-phosphate receptor domain superfamily_Mannose 6-phosphate receptor domain,HMMPfam_CIMR,superfamily_Kringle-like,HMMSmart_SM00059,HMMPfam_fn2,PatternScan_FN2_1 - no_errors LOC646891 646891 genome.wustl.edu 36 1 173280727 173280727 + RNA SNP C C T novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 1 173280727 173280727 C T SNP LOC646891 XR_017348 human genbank 54_36p -1 model rna NULL NULL 0.000 - - - pseudogene HOXD10 3236 genome.wustl.edu 36 2 176690465 176690465 + Missense_Mutation SNP G G C novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 2 176690465 176690465 G C SNP HOXD10 NM_002148 human genbank 54_36p +1 reviewed missense c.658 p.E220Q 1.000 NULL superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1 - no_errors TTN 7273 genome.wustl.edu 36 2 179113215 179113215 + Missense_Mutation SNP C C A novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 2 179113215 179113215 C A SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.85867 p.V28623L 1.000 superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like,superfamily_WD40 repeat-like,superfamily_Positive stranded ssRNA viruses,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3 superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like,superfamily_WD40 repeat-like,superfamily_Positive stranded ssRNA viruses,HMMPfam_Titin_Z,HMMSmart_SM00406,PatternScan_IG_MHC,HMMPfam_PPAK,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,PatternScan_FGGY_KINASES_1,PatternScan_PEROXIDASE_1,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_TYR - no_errors FLT4 2324 genome.wustl.edu 36 5 179962859 179962859 + Missense_Mutation SNP C C T novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 5 179962859 179962859 C T SNP FLT4 NM_182925 human genbank 54_36p -1 reviewed missense c.4031 p.S1344N 0.000 NULL superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_V-set,HMMPfam_I-set,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00220,HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,PatternScan_PROTEIN_KINASE_ATP,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR - no_errors FAM5C 339479 genome.wustl.edu 36 1 188334586 188334586 + Missense_Mutation SNP C C T novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 1 188334586 188334586 C T SNP FAM5C NM_199051 human genbank 54_36p -1 provisional missense c.1486 p.E496K 1.000 NULL HMMPfam_MACPF,HMMSmart_SM00457 - no_errors PIGX 54965 genome.wustl.edu 36 3 197939194 197939194 + Missense_Mutation SNP G G A novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 3 197939194 197939194 G A SNP PIGX NM_017861 human genbank 54_36p +1 validated missense c.199 p.V67M 0.870 HMMPfam_PIG-X,HMMSmart_PIG-X HMMPfam_PIG-X,HMMSmart_PIG-X - no_errors DSTYK 25778 genome.wustl.edu 36 1 203423171 203423171 + Missense_Mutation SNP G G T novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 1 203423171 203423171 G T SNP DSTYK NM_015375 human genbank 54_36p -1 reviewed missense c.652 p.Q218K 1.000 NULL superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors RAPH1 65059 genome.wustl.edu 36 2 204011148 204011148 + Missense_Mutation SNP G G T novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 2 204011148 204011148 G T SNP RAPH1 ENST00000355146 human ensembl 54_36p -1 known missense c.368 p.T123N 0.000 NULL NULL - no_errors ABCA12 26154 genome.wustl.edu 36 2 215531372 215531372 + Silent SNP G G A novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 2 215531372 215531372 G A SNP ABCA12 NM_173076 human genbank 54_36p -1 reviewed silent c.5991 p.Y1997 1.000 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1 - no_errors SPEG 10290 genome.wustl.edu 36 2 220062535 220062535 + Missense_Mutation SNP G G C novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 2 220062535 220062535 G C SNP SPEG NM_005876 human genbank 54_36p +1 validated missense c.8551 p.G2851R 0.743 NULL superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMSmart_SM00219 - no_errors PPPDE1 51029 genome.wustl.edu 36 1 242935647 242935647 + Missense_Mutation SNP C C G novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 1 242935647 242935647 C G SNP PPPDE1 NM_016076 human genbank 54_36p +1 validated missense c.518 p.A173G 0.953 NULL HMMPfam_DUF862 - no_errors ADAMTS6 11174 genome.wustl.edu 36 5 64504438 64504441 + Frame_Shift_Del DEL AGCG AGCG - novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 AGCG AGCG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 5 64504438 64504441 AGCG - DEL ADAMTS6 NM_197941 human genbank 54_36p -1 reviewed frame_shift_del c.3064_3061 p.R1021fs 1.000:1.000:1.000:1.000 superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209 "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1,HMMPfam_PLAC" (deletion:cds_exon[64504415,64504591]) no_errors LOC346329 346329 genome.wustl.edu 36 7 65608387 65608398 + RNA DEL ATGGCGGTGAAA ATGGCGGTGAAA - novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 ATGGCGGTGAAA ATGGCGGTGAAA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 7 65608387 65608398 ATGGCGGTGAAA - DEL LOC346329 XR_016257 human genbank 54_36p -1 model rna NULL NULL 0.940:0.971:0.981:0.934:0.816:0.794:0.852:0.962:1.000:1.000:1.000:1.000 - - (deletion:rna[65607282,65608645]) pseudogene ARHGEF17 9828 genome.wustl.edu 36 11 72698023 72698024 + In_Frame_Ins INS - - CTC novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 11 72698023 72698024 - CTC INS ARHGEF17 NM_014786 human genbank 54_36p +1 validated in_frame_ins c.692_693 p.235in_frame_insS 0.944:0.961 NULL superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_PH domain-like,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase - no_errors C9orf95 54981 genome.wustl.edu 36 9 76882303 76882314 + In_Frame_Del DEL CACTGTTTGTCA CACTGTTTGTCA - novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 CACTGTTTGTCA CACTGTTTGTCA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 9 76882303 76882314 CACTGTTTGTCA - DEL C9orf95 NM_017881 human genbank 54_36p -1 validated in_frame_del c.43_32 p.VTNS11in_frame_del 1.000:0.995:1.000:1.000:0.997:1.000:1.000:1.000:1.000:1.000:1.000:1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases superfamily_P-loop containing nucleoside triphosphate hydrolases (deletion:cds_exon[76882226,76882316]) no_errors CNR1 1268 genome.wustl.edu 36 6 88911628 88911651 + In_Frame_Del DEL GAATGTCATTTGAGCCCACGTACA GAATGTCATTTGAGCCCACGTACA - novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 GAATGTCATTTGAGCCCACGTACA GAATGTCATTTGAGCCCACGTACA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 6 88911628 88911651 GAATGTCATTTGAGCCCACGTACA - DEL CNR1 NM_016083 human genbank 54_36p -1 reviewed in_frame_del c.85_62 p.LYVGSNDI21in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.998:0.827:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 NULL superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 (deletion:cds_exon[88910294,88911712]) no_errors PTEN 5728 genome.wustl.edu 36 10 89701990 89702014 + Frame_Shift_Del DEL ACTTGCAGTAAGTGCTTGAAATTCT ACTTGCAGTAAGTGCTTGAAATTCT - novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 ACTTGCAGTAAGTGCTTGAAATTCT ACTTGCAGTAAGTGCTTGAAATTCT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 10 89701990 89702014 ACTTGCAGTAAGTGCTTGAAATTCT - DEL PTEN NM_000314 human genbank 54_36p +1 reviewed frame_shift_del c.628_634 p.T210fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000 HMMPfam_PTEN_C2,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,HMMPfam_DSPc,HMMPfam_PTEN_C2,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) (deletion:cds_exon[89701855,89701996], intron[89701997,89707589]) no_errors ACAD11 84129 genome.wustl.edu 36 3 133841056 133841072 + Frame_Shift_Del DEL TCTGAAATCTCCATGAA TCTGAAATCTCCATGAA - novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 TCTGAAATCTCCATGAA TCTGAAATCTCCATGAA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 3 133841056 133841072 TCTGAAATCTCCATGAA - DEL ACAD11 NM_032169 human genbank 54_36p -1 validated frame_shift_del c.672_656 p.I219fs 0.987:0.997:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 superfamily_Protein kinase-like (PK-like),HMMPfam_APH,PatternScan_PROTEIN_KINASE_TYR superfamily_Protein kinase-like (PK-like),HMMPfam_APH,PatternScan_PROTEIN_KINASE_TYR,superfamily_Acyl-CoA dehydrogenase NM domain-like,HMMPfam_Acyl-CoA_dh_N,HMMPfam_Acyl-CoA_dh_M,HMMPfam_Acyl-CoA_dh_1,superfamily_Acyl-CoA dehydrogenase C-terminal domain-like (deletion:cds_exon[133841026,133841190]) no_errors TTN 7273 genome.wustl.edu 36 2 179203975 179204007 + Splice_Site DEL TCAAGAGTGAAACTCATGGAAATTTCCTTACCC TCAAGAGTGAAACTCATGGAAATTTCCTTACCC - novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 TCAAGAGTGAAACTCATGGAAATTTCCTTACCC TCAAGAGTGAAACTCATGGAAATTTCCTTACCC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 2 179203975 179204007 TCAAGAGTGAAACTCATGGAAATTTCCTTACCC - DEL TTN ENST00000375038 human ensembl 54_36p -1 known splice_site_del c.31960+3_31960+1 e146-1 0.036:0.040:0.016:0.027:0.024:0.000:0.000:0.000:0.001:0.002:0.004:0.024:0.001:0.002:0.002:0.000:0.000:0.011:0.020:0.016:0.008:0.004:0.002:0.001:0.031:0.404:0.835:0.975:0.988:1.000:1.000:1.000:0.997 - - (deletion:intron[179203916,179204005], cds_exon[179204006,179204272]) no_errors WDR64 128025 genome.wustl.edu 36 1 239971560 239971570 + Frame_Shift_Del DEL CTCACTATCTG CTCACTATCTG - novel unknown TCGA-61-1737-01A-01W-0639-09 TCGA-61-1737-11A-01W-0639-09 CTCACTATCTG CTCACTATCTG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ff9dd6f8-0030-455e-bca8-f3090615c39c d0dbbf30-9f8d-4e13-9481-df5b5826af8c 1 239971560 239971570 CTCACTATCTG - DEL WDR64 NM_144625 human genbank 54_36p +1 validated frame_shift_del c.571_581 p.T192fs 0.993:0.994:0.987:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 superfamily_WD40 repeat-like,HMMSmart_SM00320 superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40 (deletion:cds_exon[239971441,239971589]) no_errors