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 C16orf5 29965 genome.wustl.edu 36 16 4503855 4503855 + Splice_Site SNP T T A novel unknown TCGA-20-1684-01A-01W-0633-09 TCGA-20-1684-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41fbfa93-8a31-461e-800a-23142842d0df 37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0 16 4503855 4503855 T A SNP C16orf5 NM_013399 human genbank 54_36p -1 validated splice_site c.86-2 e2-2 1.000 - - - no_errors DCHS1 8642 genome.wustl.edu 36 11 6603505 6603505 + Missense_Mutation SNP C C A novel unknown TCGA-20-1684-01A-01W-0633-09 TCGA-20-1684-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41fbfa93-8a31-461e-800a-23142842d0df 37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0 11 6603505 6603505 C A SNP DCHS1 NM_003737 human genbank 54_36p -1 reviewed missense c.6761 p.S2254I 0.992 superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1 - no_errors ENO2 2026 genome.wustl.edu 36 12 6897467 6897467 + Nonsense_Mutation SNP C C T novel unknown TCGA-20-1684-01A-01W-0633-09 TCGA-20-1684-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41fbfa93-8a31-461e-800a-23142842d0df 37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0 12 6897467 6897467 C T SNP ENO2 NM_001975 human genbank 54_36p +1 reviewed nonsense c.547 p.R183* 1.000 superfamily_Enolase C-terminal domain-like,HMMPfam_Enolase_C HMMPfam_Enolase_N,superfamily_Enolase N-terminal domain-like,superfamily_Enolase C-terminal domain-like,HMMPfam_Enolase_C,PatternScan_ENOLASE - no_errors ATP2B2 491 genome.wustl.edu 36 3 10418904 10418904 + Missense_Mutation SNP C C G novel unknown TCGA-20-1684-01A-01W-0633-09 TCGA-20-1684-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41fbfa93-8a31-461e-800a-23142842d0df 37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0 3 10418904 10418904 C G SNP ATP2B2 NM_001001331 human genbank 54_36p -1 reviewed missense c.526 p.E176Q 1.000 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,HMMPfam_Hydrolase,superfamily_HAD-like,PatternScan_ATPASE_E1_E2,superfamily_Metal cation-transporting ATPase ATP-binding domain N,HMMPfam_Cation_ATPase_C - no_errors LDLR 3949 genome.wustl.edu 36 19 11092184 11092184 + Missense_Mutation SNP G G C novel unknown TCGA-20-1684-01A-01W-0633-09 TCGA-20-1684-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41fbfa93-8a31-461e-800a-23142842d0df 37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0 19 11092184 11092184 G C SNP LDLR NM_000527 human genbank 54_36p +1 reviewed missense c.2126 p.R709T 1.000 superfamily_EGF/Laminin,HMMSmart_SM00181 superfamily_LDL receptor-like module,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1,HMMSmart_SM00179,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2,PatternScan_EGF_CA,HMMPfam_EGF_CA,superfamily_YWTD domain,HMMSmart_SM00135,HMMPfam_Ldl_recept_b - no_errors LOC646057 0 genome.wustl.edu 36 15 18452909 18452909 + Missense_Mutation SNP C C G novel unknown TCGA-20-1684-01A-01W-0633-09 TCGA-20-1684-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41fbfa93-8a31-461e-800a-23142842d0df 37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0 15 18452909 18452909 C G SNP LOC646057 XM_001716562 human genbank 54_36p -1 model missense c.730 p.G244R 0.001 HMMSmart_SM00409 HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00406 - no_errors OR4N5 390437 genome.wustl.edu 36 14 19682256 19682256 + Silent SNP C C T novel unknown TCGA-20-1684-01A-01W-0633-09 TCGA-20-1684-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41fbfa93-8a31-461e-800a-23142842d0df 37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0 14 19682256 19682256 C T SNP OR4N5 NM_001004724 human genbank 54_36p +1 provisional silent c.522 p.L174 0.103 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors C20orf26 26074 genome.wustl.edu 36 20 20125485 20125485 + Missense_Mutation SNP G G A novel unknown TCGA-20-1684-01A-01W-0633-09 TCGA-20-1684-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41fbfa93-8a31-461e-800a-23142842d0df 37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0 20 20125485 20125485 G A SNP C20orf26 ENST00000377303 human ensembl 54_36p +1 known missense c.1670 p.R557H 0.000 NULL superfamily_Acyl_CoA_acyltransferase - no_errors CYFIP1 23191 genome.wustl.edu 36 15 20542656 20542656 + Silent SNP C C G novel unknown TCGA-20-1684-01A-01W-0633-09 TCGA-20-1684-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41fbfa93-8a31-461e-800a-23142842d0df 37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0 15 20542656 20542656 C G SNP CYFIP1 NM_014608 human genbank 54_36p +1 validated silent c.2904 p.G968 1.000 HMMPfam_FragX_IP HMMPfam_FragX_IP - no_errors FANCF 2188 genome.wustl.edu 36 11 22603617 22603617 + Missense_Mutation SNP C C T novel unknown TCGA-20-1684-01A-01W-0633-09 TCGA-20-1684-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41fbfa93-8a31-461e-800a-23142842d0df 37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0 11 22603617 22603617 C T SNP FANCF NM_022725 human genbank 54_36p -1 reviewed missense c.316 p.A106T 0.309 NULL NULL - no_errors HIST1H2BD 3017 genome.wustl.edu 36 6 26266383 26266383 + Missense_Mutation SNP G G C novel unknown TCGA-20-1684-01A-01W-0633-09 TCGA-20-1684-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41fbfa93-8a31-461e-800a-23142842d0df 37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0 6 26266383 26266383 G C SNP HIST1H2BD NM_021063 human genbank 54_36p +1 reviewed missense c.7 p.E3Q 0.998 NULL superfamily_Histone-fold,HMMSmart_SM00427,HMMPfam_Histone,PatternScan_HISTONE_H2B - no_errors LOC401847 401847 genome.wustl.edu 36 16 33512964 33512964 + Silent SNP T T C novel unknown TCGA-20-1684-01A-01W-0633-09 TCGA-20-1684-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41fbfa93-8a31-461e-800a-23142842d0df 37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0 16 33512964 33512964 T C SNP LOC401847 XM_001718104 human genbank 54_36p +1 model silent c.768 p.S256 1.000 HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00406 superfamily_Alkaline phosphatase-like,HMMPfam_Phosphodiest,HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00406 - no_errors SLC32A1 140679 genome.wustl.edu 36 20 36787002 36787002 + Missense_Mutation SNP G G A novel unknown TCGA-20-1684-01A-01W-0633-09 TCGA-20-1684-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41fbfa93-8a31-461e-800a-23142842d0df 37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0 20 36787002 36787002 G A SNP SLC32A1 NM_080552 human genbank 54_36p +1 reviewed missense c.221 p.G74D 0.995 NULL HMMPfam_Aa_trans - no_errors RPAP1 26015 genome.wustl.edu 36 15 39603738 39603738 + Silent SNP G G C novel unknown TCGA-20-1684-01A-01W-0633-09 TCGA-20-1684-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41fbfa93-8a31-461e-800a-23142842d0df 37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0 15 39603738 39603738 G C SNP RPAP1 NM_015540 human genbank 54_36p -1 reviewed silent c.2082 p.L694 0.521 NULL HMMPfam_RPAP1_N,HMMPfam_RPAP1_C - no_errors ZNF565 147929 genome.wustl.edu 36 19 41377808 41377808 + Missense_Mutation SNP C C A novel unknown TCGA-20-1684-01A-01W-0633-09 TCGA-20-1684-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41fbfa93-8a31-461e-800a-23142842d0df 37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0 19 41377808 41377808 C A SNP ZNF565 NM_001042474 human genbank 54_36p -1 validated missense c.100 p.V34L 0.969 superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors MX2 4600 genome.wustl.edu 36 21 41689406 41689406 + Silent SNP A A T novel unknown TCGA-20-1684-01A-01W-0633-09 TCGA-20-1684-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41fbfa93-8a31-461e-800a-23142842d0df 37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0 21 41689406 41689406 A T SNP MX2 NM_002463 human genbank 54_36p +1 reviewed silent c.894 p.L298 0.998 HMMSmart_DYNc,superfamily_SSF52540 HMMSmart_DYNc,superfamily_SSF52540,HMMPfam_Dynamin_N,PatternScan_DYNAMIN,HMMPfam_Dynamin_M,HMMPfam_GED,HMMSmart_GED - no_errors CATSPER2 117155 genome.wustl.edu 36 15 41711841 41711841 + Nonsense_Mutation SNP C C T novel unknown TCGA-20-1684-01A-01W-0633-09 TCGA-20-1684-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41fbfa93-8a31-461e-800a-23142842d0df 37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0 15 41711841 41711841 C T SNP CATSPER2 NM_172095 human genbank 54_36p -1 reviewed nonsense c.1409 p.W470* 1.000 NULL superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans - no_errors LOC441420 441420 genome.wustl.edu 36 9 45266404 45266404 + RNA SNP C C A novel unknown TCGA-20-1684-01A-01W-0633-09 TCGA-20-1684-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41fbfa93-8a31-461e-800a-23142842d0df 37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0 9 45266404 45266404 C A SNP LOC441420 XR_036959 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene PCDH15 65217 genome.wustl.edu 36 10 55425498 55425498 + Nonsense_Mutation SNP G A A novel unknown TCGA-20-1684-01A-01W-0633-09 TCGA-20-1684-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41fbfa93-8a31-461e-800a-23142842d0df 37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0 10 55425498 55425498 G A SNP PCDH15 NM_033056 human genbank 54_36p -1 reviewed nonsense c.2785 p.R929* 0.910 superfamily_Cadherin-like HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like,HMMPfam_Cadherin - no_errors NLRP12 91662 genome.wustl.edu 36 19 59004694 59004694 + Silent SNP G G A novel unknown TCGA-20-1684-01A-01W-0633-09 TCGA-20-1684-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41fbfa93-8a31-461e-800a-23142842d0df 37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0 19 59004694 59004694 G A SNP NLRP12 NM_144687 human genbank 54_36p -1 reviewed silent c.2031 p.R677 0.000 superfamily_RNI-like HMMPfam_PAAD_DAPIN,superfamily_DEATH domain,HMMPfam_NACHT,superfamily_RNI-like,HMMSmart_SM00368 - no_errors CACNG4 27092 genome.wustl.edu 36 17 62457375 62457375 + Silent SNP G A A novel unknown TCGA-20-1684-01A-01W-0633-09 TCGA-20-1684-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41fbfa93-8a31-461e-800a-23142842d0df 37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0 17 62457375 62457375 G A SNP CACNG4 NM_014405 human genbank 54_36p +1 reviewed silent c.777 p.S259 0.901 NULL HMMPfam_PMP22_Claudin,PatternScan_CLAUDIN - no_errors CDH11 1009 genome.wustl.edu 36 16 63573568 63573568 + Missense_Mutation SNP C C A novel unknown TCGA-20-1684-01A-01W-0633-09 TCGA-20-1684-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41fbfa93-8a31-461e-800a-23142842d0df 37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0 16 63573568 63573568 C A SNP CDH11 NM_001797 human genbank 54_36p -1 reviewed missense c.1137 p.E379D 1.000 HMMSmart_SM00112,superfamily_Cadherin-like superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C - no_errors ATXN7 6314 genome.wustl.edu 36 3 63956853 63956853 + Missense_Mutation SNP A A G novel unknown TCGA-20-1684-01A-01W-0633-09 TCGA-20-1684-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41fbfa93-8a31-461e-800a-23142842d0df 37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0 3 63956853 63956853 A G SNP ATXN7 NM_000333 human genbank 54_36p +1 reviewed missense c.2315 p.H772R 0.998 NULL HMMPfam_SCA7 - no_errors MALAT1 378938 genome.wustl.edu 36 11 65026758 65026758 + RNA SNP C C G novel unknown TCGA-20-1684-01A-01W-0633-09 TCGA-20-1684-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41fbfa93-8a31-461e-800a-23142842d0df 37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0 11 65026758 65026758 C G SNP MALAT1 NR_002819 human genbank 54_36p +1 provisional rna NULL NULL 1.000 - - - no_errors CDX4 1046 genome.wustl.edu 36 X 72583952 72583952 + Silent SNP G A A novel unknown TCGA-20-1684-01A-01W-0633-09 TCGA-20-1684-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41fbfa93-8a31-461e-800a-23142842d0df 37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0 X 72583952 72583952 G A SNP CDX4 NM_005193 human genbank 54_36p +1 provisional silent c.138 p.A46 0.097 HMMPfam_Caudal_act HMMPfam_Caudal_act,PatternScan_HMG_COA_REDUCTASE_2,superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1 - no_errors CLEC3A 10143 genome.wustl.edu 36 16 76619506 76619506 + Missense_Mutation SNP C C A novel unknown TCGA-20-1684-01A-01W-0633-09 TCGA-20-1684-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41fbfa93-8a31-461e-800a-23142842d0df 37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0 16 76619506 76619506 C A SNP CLEC3A NM_005752 human genbank 54_36p +1 validated missense c.117 p.D39E 0.025 NULL superfamily_C-type_lectin_fold,HMMSmart_CLECT,HMMPfam_Lectin_C,PatternScan_C_TYPE_LECTIN_1 - no_errors LOC100132402 0 genome.wustl.edu 36 10 81642836 81642836 + RNA SNP C C T novel unknown TCGA-20-1684-01A-01W-0633-09 TCGA-20-1684-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41fbfa93-8a31-461e-800a-23142842d0df 37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0 10 81642836 81642836 C T SNP LOC100132402 XR_037723 human genbank 54_36p -1 model rna NULL NULL 0.993 - - - pseudogene ENSG00000211627 0 genome.wustl.edu 36 2 89759382 89759382 + Missense_Mutation SNP A A T novel unknown TCGA-20-1684-01A-01W-0633-09 TCGA-20-1684-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41fbfa93-8a31-461e-800a-23142842d0df 37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0 2 89759382 89759382 A T SNP ENSG00000211627 ENST00000390272 human ensembl 54_36p +1 known missense c.295 p.S99C 1.000 HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IGv HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IGv - no_stop_codon:bad_bp_length_for_coding_region SFRS18 25957 genome.wustl.edu 36 6 99959199 99959199 + Splice_Site SNP C C T novel unknown TCGA-20-1684-01A-01W-0633-09 TCGA-20-1684-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41fbfa93-8a31-461e-800a-23142842d0df 37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0 6 99959199 99959199 C T SNP SFRS18 NM_015491 human genbank 54_36p -1 validated splice_site c.1102+1 e7+1 1.000 - - - no_errors RINT1 60561 genome.wustl.edu 36 7 104976363 104976363 + Missense_Mutation SNP A A C novel unknown TCGA-20-1684-01A-01W-0633-09 TCGA-20-1684-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41fbfa93-8a31-461e-800a-23142842d0df 37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0 7 104976363 104976363 A C SNP RINT1 NM_021930 human genbank 54_36p +1 validated missense c.966 p.R322S 0.993 HMMPfam_RINT1_TIP1 HMMPfam_RINT1_TIP1 - no_errors FAM102B 284611 genome.wustl.edu 36 1 108944806 108944806 + Missense_Mutation SNP G G T novel unknown TCGA-20-1684-01A-01W-0633-09 TCGA-20-1684-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41fbfa93-8a31-461e-800a-23142842d0df 37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0 1 108944806 108944806 G T SNP FAM102B NM_001010883 human genbank 54_36p +1 validated missense c.140 p.C47F 1.000 HMMPfam_Eeig1 HMMPfam_Eeig1 - no_errors PTPRZ1 5803 genome.wustl.edu 36 7 121440077 121440077 + Silent SNP G G A novel unknown TCGA-20-1684-01A-01W-0633-09 TCGA-20-1684-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41fbfa93-8a31-461e-800a-23142842d0df 37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0 7 121440077 121440077 G A SNP PTPRZ1 NM_002851 human genbank 54_36p +1 reviewed silent c.3741 p.S1247 0.009 NULL 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 TMEM225 338661 genome.wustl.edu 36 11 123259077 123259077 + Missense_Mutation SNP C C T novel unknown TCGA-20-1684-01A-01W-0633-09 TCGA-20-1684-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41fbfa93-8a31-461e-800a-23142842d0df 37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0 11 123259077 123259077 C T SNP TMEM225 NM_001013743 human genbank 54_36p -1 provisional missense c.656 p.R219H 0.052 NULL NULL - no_errors LAMC3 10319 genome.wustl.edu 36 9 132926361 132926361 + Silent SNP C C A novel unknown TCGA-20-1684-01A-01W-0633-09 TCGA-20-1684-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41fbfa93-8a31-461e-800a-23142842d0df 37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0 9 132926361 132926361 C A SNP LAMC3 NM_006059 human genbank 54_36p +1 reviewed silent c.2277 p.G759 0.367 HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_SSF57196 HMMSmart_LamNT,HMMPfam_Laminin_N,HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_SSF57196,PatternScan_EGF_1,PatternScan_EGF_LAM_1,HMMPfam_Laminin_B,PatternScan_EGF_2 - no_errors GPR112 139378 genome.wustl.edu 36 X 135256924 135256924 + Silent SNP C T T novel unknown TCGA-20-1684-01A-01W-0633-09 TCGA-20-1684-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41fbfa93-8a31-461e-800a-23142842d0df 37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0 X 135256924 135256924 C T SNP GPR112 NM_153834 human genbank 54_36p +1 validated silent c.3393 p.T1131 0.005 NULL superfamily_ConA_like_lec_gl,HMMPfam_GPS,HMMSmart_GPS,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2 - no_errors A4GNT 51146 genome.wustl.edu 36 3 139326312 139326312 + Missense_Mutation SNP A A C novel unknown TCGA-20-1684-01A-01W-0633-09 TCGA-20-1684-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41fbfa93-8a31-461e-800a-23142842d0df 37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0 3 139326312 139326312 A C SNP A4GNT NM_016161 human genbank 54_36p -1 reviewed missense c.507 p.D169E 0.937 HMMPfam_Gly_transf_sug HMMPfam_Gly_transf_sug,HMMPfam_Gb3_synth - no_errors EPPK1 83481 genome.wustl.edu 36 8 145014401 145014401 + Missense_Mutation SNP T C C novel unknown TCGA-20-1684-01A-01W-0633-09 TCGA-20-1684-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41fbfa93-8a31-461e-800a-23142842d0df 37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0 8 145014401 145014401 T C SNP EPPK1 NM_031308 human genbank 54_36p -1 provisional missense c.4934 p.D1645G 0.998 superfamily_Plakin repeat,HMMSmart_SM00250 HMMSmart_SM00250,superfamily_Plakin repeat,HMMPfam_Plectin - no_stop_codon:bad_bp_length_for_coding_region SCN2A 6326 genome.wustl.edu 36 2 165880285 165880285 + Missense_Mutation SNP G G A novel unknown TCGA-20-1684-01A-01W-0633-09 TCGA-20-1684-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41fbfa93-8a31-461e-800a-23142842d0df 37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0 2 165880285 165880285 G A SNP SCN2A NM_001040142 human genbank 54_36p +1 reviewed missense c.1442 p.G481E 0.197 NULL superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,HMMSmart_SM00015,HMMPfam_IQ - no_errors FXR1 8087 genome.wustl.edu 36 3 182163519 182163519 + Missense_Mutation SNP C C T novel unknown TCGA-20-1684-01A-01W-0633-09 TCGA-20-1684-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41fbfa93-8a31-461e-800a-23142842d0df 37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0 3 182163519 182163519 C T SNP FXR1 NM_005087 human genbank 54_36p +1 reviewed missense c.1145 p.S382F 1.000 superfamily_Eukaryotic type KH-domain (KH-domain type I) HMMPfam_Agenet,superfamily_Eukaryotic type KH-domain (KH-domain type I),HMMSmart_SM00322,HMMPfam_KH_1 - no_errors SSFA2 6744 genome.wustl.edu 36 2 182473833 182473833 + Missense_Mutation SNP G G T novel unknown TCGA-20-1684-01A-01W-0633-09 TCGA-20-1684-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41fbfa93-8a31-461e-800a-23142842d0df 37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0 2 182473833 182473833 G T SNP SSFA2 NM_006751 human genbank 54_36p +1 validated missense c.669 p.Q223H 0.873 NULL NULL - no_errors DNAJB3 414061 genome.wustl.edu 36 2 234317103 234317103 + Missense_Mutation SNP G G A novel unknown TCGA-20-1684-01A-01W-0633-09 TCGA-20-1684-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41fbfa93-8a31-461e-800a-23142842d0df 37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0 2 234317103 234317103 G A SNP DNAJB3 NM_001001394 human genbank 54_36p -1 validated missense c.199 p.R67C 0.720 superfamily_DnaJ_N superfamily_DnaJ_N,HMMSmart_DnaJ,HMMPfam_DnaJ,PatternScan_DNAJ_1 - no_errors VARS 7407 genome.wustl.edu 36 6 31868586 31868587 + Frame_Shift_Ins INS - - CGGACACA novel unknown TCGA-20-1684-01A-01W-0633-09 TCGA-20-1684-10A-01W-0633-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41fbfa93-8a31-461e-800a-23142842d0df 37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0 6 31868586 31868587 - CGGACACA INS VARS NM_006295 human genbank 54_36p -1 reviewed frame_shift_ins c.588_587 p.Q197fs 1.000:1.000 superfamily_Glutathione S-transferase (GST) C-terminal domain,HMMPfam_GST_C HMMPfam_GST_N,superfamily_Glutathione S-transferase (GST) C-terminal domain,HMMPfam_GST_C,superfamily_Nucleotidylyl transferase,HMMPfam_tRNA-synt_1,PatternScan_AA_TRNA_LIGASE_I,superfamily_ValRS/IleRS/LeuRS editing domain,superfamily_Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases,HMMPfam_Anticodon_1 - no_errors CRKRS 51755 genome.wustl.edu 36 17 34904405 34904406 + Frame_Shift_Ins INS - - A novel unknown TCGA-20-1684-01A-01W-0633-09 TCGA-20-1684-10A-01W-0633-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41fbfa93-8a31-461e-800a-23142842d0df 37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0 17 34904405 34904406 - A INS CRKRS NM_016507 human genbank 54_36p +1 validated frame_shift_ins c.2351_2352 p.S785fs 0.449:0.384 superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors HIPK1 204851 genome.wustl.edu 36 1 114285180 114285185 + In_Frame_Del DEL ATTAAA ATTAAA - novel unknown TCGA-20-1684-01A-01W-0633-09 TCGA-20-1684-10A-01W-0633-09 ATTAAA ATTAAA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41fbfa93-8a31-461e-800a-23142842d0df 37f8a8d6-27ce-43b4-9e13-ac2e11fffdd0 1 114285180 114285185 ATTAAA - DEL HIPK1 NM_198268 human genbank 54_36p +1 reviewed in_frame_del c.652_657 p.KI219in_frame_del 1.000:1.000:1.000:1.000:1.000:0.997 superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST (deletion:cds_exon[114284529,114285604]) no_errors