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-ND2 0 genome.wustl.edu 36 MT 4769 4769 + Missense_Mutation SNP T T C novel unknown TCGA-04-1655-01A-01W-0633-09 TCGA-04-1655-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6 cb7913f1-11a0-4921-89c1-96048537cf18 MT 4769 4769 T C SNP MT-ND2 ENST00000361453 human ensembl 54_36p +1 known missense c.299 p.M100T NULL HMMPfam_Oxidored_q1 HMMPfam_Oxidored_q1,HMMPfam_NADH_dehy_S2_C - no_stop_codon:bad_bp_length_for_coding_region MT-CYB 4519 genome.wustl.edu 36 MT 15247 15247 + Missense_Mutation SNP G G A novel unknown TCGA-04-1655-01A-01W-0633-09 TCGA-04-1655-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6 cb7913f1-11a0-4921-89c1-96048537cf18 MT 15247 15247 G A SNP MT-CYB ENST00000361789 human ensembl 54_36p +1 known missense c.500 p.G167D NULL superfamily_Transmembr_di-haem_cytochrome,HMMPfam_Cytochrom_B_N superfamily_Transmembr_di-haem_cytochrome,HMMPfam_Cytochrom_B_N,HMMPfam_Cytochrom_B_C,superfamily_Cytochrome_b/b6_C - no_stop_codon:bad_bp_length_for_coding_region DOCK8 81704 genome.wustl.edu 36 9 276554 276554 + Missense_Mutation SNP G G C novel unknown TCGA-04-1655-01A-01W-0633-09 TCGA-04-1655-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6 cb7913f1-11a0-4921-89c1-96048537cf18 9 276554 276554 G C SNP DOCK8 NM_203447 human genbank 54_36p +1 validated missense c.46 p.G16R 1.000 NULL HMMPfam_Ded_cyto - no_errors KRTAP5-6 440023 genome.wustl.edu 36 11 1675424 1675424 + Missense_Mutation SNP T T G novel unknown TCGA-04-1655-01A-01W-0633-09 TCGA-04-1655-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6 cb7913f1-11a0-4921-89c1-96048537cf18 11 1675424 1675424 T G SNP KRTAP5-6 NM_001012416 human genbank 54_36p +1 validated missense c.373 p.C125G 0.997 PatternScan_VWFC_1 PatternScan_MOLYBDOPTERIN_PROK_1,PatternScan_VWFC_1 - no_errors CLUAP1 23059 genome.wustl.edu 36 16 3498459 3498459 + Missense_Mutation SNP T T G novel unknown TCGA-04-1655-01A-01W-0633-09 TCGA-04-1655-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6 cb7913f1-11a0-4921-89c1-96048537cf18 16 3498459 3498459 T G SNP CLUAP1 NM_015041 human genbank 54_36p +1 provisional missense c.389 p.L130R 0.984 HMMPfam_Cluap1 HMMPfam_Cluap1 - no_errors OTOP1 133060 genome.wustl.edu 36 4 4250427 4250427 + Silent SNP C C T novel unknown TCGA-04-1655-01A-01W-0633-09 TCGA-04-1655-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6 cb7913f1-11a0-4921-89c1-96048537cf18 4 4250427 4250427 C T SNP OTOP1 NM_177998 human genbank 54_36p -1 provisional silent c.1035 p.S345 0.987 HMMPfam_DUF270 HMMPfam_DUF270 - no_errors ITPR1 3708 genome.wustl.edu 36 3 4684173 4684173 + Missense_Mutation SNP A A T novel unknown TCGA-04-1655-01A-01W-0633-09 TCGA-04-1655-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6 cb7913f1-11a0-4921-89c1-96048537cf18 3 4684173 4684173 A T SNP ITPR1 NM_001099952 human genbank 54_36p +1 validated missense c.1826 p.H609L 1.000 HMMPfam_RYDR_ITPR HMMPfam_Ins145_P3_rec,superfamily_MIR domain (Pfam 02815),HMMSmart_SM00472,HMMPfam_MIR,superfamily_IP3 receptor type 1 binding core domain 2,HMMPfam_RYDR_ITPR,HMMPfam_RIH_assoc,HMMPfam_Ion_trans - no_errors ALG1 56052 genome.wustl.edu 36 16 5073716 5073716 + Missense_Mutation SNP G G A novel unknown TCGA-04-1655-01A-01W-0633-09 TCGA-04-1655-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6 cb7913f1-11a0-4921-89c1-96048537cf18 16 5073716 5073716 G A SNP ALG1 NM_019109 human genbank 54_36p +1 reviewed missense c.1220 p.G407D 1.000 superfamily_SSF53756,HMMPfam_Glycos_transf_1 superfamily_SSF53756,HMMPfam_Glycos_transf_1 - no_errors TP53 7157 genome.wustl.edu 36 17 7518295 7518295 + Missense_Mutation SNP C A A novel unknown TCGA-04-1655-01A-01W-0633-09 TCGA-04-1655-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6 cb7913f1-11a0-4921-89c1-96048537cf18 17 7518295 7518295 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.711 p.M237I 1.000 HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53 HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain - no_errors FASTKD3 79072 genome.wustl.edu 36 5 7920144 7920144 + Silent SNP A A G novel unknown TCGA-04-1655-01A-01W-0633-09 TCGA-04-1655-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6 cb7913f1-11a0-4921-89c1-96048537cf18 5 7920144 7920144 A G SNP FASTKD3 NM_024091 human genbank 54_36p -1 validated silent c.1053 p.F351 0.995 NULL HMMPfam_FAST_1,HMMPfam_FAST_2,HMMPfam_RAP - no_errors MYH8 4626 genome.wustl.edu 36 17 10257976 10257976 + Missense_Mutation SNP C C G novel unknown TCGA-04-1655-01A-01W-0633-09 TCGA-04-1655-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6 cb7913f1-11a0-4921-89c1-96048537cf18 17 10257976 10257976 C G SNP MYH8 NM_002472 human genbank 54_36p -1 validated missense c.1115 p.R372P 0.999 superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head HMMPfam_Myosin_N,superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_IQ,HMMPfam_Myosin_tail_1 - no_errors ZNF627 199692 genome.wustl.edu 36 19 11588511 11588511 + Missense_Mutation SNP C C T novel unknown TCGA-04-1655-01A-01W-0633-09 TCGA-04-1655-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6 cb7913f1-11a0-4921-89c1-96048537cf18 19 11588511 11588511 C T SNP ZNF627 NM_145295 human genbank 54_36p +1 validated missense c.193 p.H65Y 0.053 HMMSmart_KRAB superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,HMMSmart_ZnF_C2H2,superfamily_SSF57667,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors SCIN 85477 genome.wustl.edu 36 7 12635372 12635372 + Nonsense_Mutation SNP G G A novel unknown TCGA-04-1655-01A-01W-0633-09 TCGA-04-1655-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6 cb7913f1-11a0-4921-89c1-96048537cf18 7 12635372 12635372 G A SNP SCIN NM_033128 human genbank 54_36p +1 validated nonsense c.578 p.W193* 1.000 superfamily_Actin depolymerizing proteins,HMMSmart_SM00262,HMMPfam_Gelsolin superfamily_C-terminal gelsolin-like domain of Sec23/24,HMMSmart_SM00262,HMMPfam_Gelsolin,superfamily_Actin depolymerizing proteins - no_errors ZNF492 57615 genome.wustl.edu 36 19 22639756 22639756 + Missense_Mutation SNP G G A novel unknown TCGA-04-1655-01A-01W-0633-09 TCGA-04-1655-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6 cb7913f1-11a0-4921-89c1-96048537cf18 19 22639756 22639756 G A SNP ZNF492 NM_020855 human genbank 54_36p +1 validated missense c.1445 p.C482Y 0.999 superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 superfamily_Krueppel-associated_box,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors CDH10 1008 genome.wustl.edu 36 5 24523717 24523717 + Missense_Mutation SNP C C T novel unknown TCGA-04-1655-01A-01W-0633-09 TCGA-04-1655-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6 cb7913f1-11a0-4921-89c1-96048537cf18 5 24523717 24523717 C T SNP CDH10 NM_006727 human genbank 54_36p -1 reviewed missense c.2179 p.A727T 0.993 HMMPfam_Cadherin_C superfamily_Cadherin,HMMSmart_CA,HMMPfam_Cadherin,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C - no_errors HIST1H2BE 8344 genome.wustl.edu 36 6 26292059 26292059 + Silent SNP G G T novel unknown TCGA-04-1655-01A-01W-0633-09 TCGA-04-1655-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6 cb7913f1-11a0-4921-89c1-96048537cf18 6 26292059 26292059 G T SNP HIST1H2BE NM_003523 human genbank 54_36p +1 reviewed silent c.57 p.V19 1.000 superfamily_Histone-fold superfamily_Histone-fold,HMMSmart_SM00427,HMMPfam_Histone,PatternScan_HISTONE_H2B - no_errors CPVL 54504 genome.wustl.edu 36 7 29072165 29072165 + Missense_Mutation SNP G G C novel unknown TCGA-04-1655-01A-01W-0633-09 TCGA-04-1655-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6 cb7913f1-11a0-4921-89c1-96048537cf18 7 29072165 29072165 G C SNP CPVL NM_019029 human genbank 54_36p -1 reviewed missense c.962 p.T321R 0.998 superfamily_alpha/beta-Hydrolases,HMMPfam_Peptidase_S10 superfamily_alpha/beta-Hydrolases,HMMPfam_Peptidase_S10,PatternScan_CARBOXYPEPT_SER_SER - no_errors C13orf33 84935 genome.wustl.edu 36 13 30393769 30393769 + Missense_Mutation SNP C C A novel unknown TCGA-04-1655-01A-01W-0633-09 TCGA-04-1655-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6 cb7913f1-11a0-4921-89c1-96048537cf18 13 30393769 30393769 C A SNP C13orf33 NM_032849 human genbank 54_36p +1 validated missense c.573 p.S191R 0.885 NULL NULL - no_errors SRCAP 10847 genome.wustl.edu 36 16 30658260 30658260 + Missense_Mutation SNP C C A novel unknown TCGA-04-1655-01A-01W-0633-09 TCGA-04-1655-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6 cb7913f1-11a0-4921-89c1-96048537cf18 16 30658260 30658260 C A SNP SRCAP NM_006662 human genbank 54_36p +1 validated missense c.9398 p.T3133N 0.987 NULL HMMPfam_HSA,HMMSmart_SM00573,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_SNF2_N,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_AT_hook,HMMSmart_SM00384 - no_errors RPS10 6204 genome.wustl.edu 36 6 34500851 34500851 + Missense_Mutation SNP G G T novel unknown TCGA-04-1655-01A-01W-0633-09 TCGA-04-1655-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6 cb7913f1-11a0-4921-89c1-96048537cf18 6 34500851 34500851 G T SNP RPS10 NM_001014 human genbank 54_36p -1 reviewed missense c.126 p.N42K 1.000 HMMPfam_S10_plectin HMMPfam_S10_plectin - no_errors ARAP2 116984 genome.wustl.edu 36 4 35802953 35802953 + Missense_Mutation SNP T T A novel unknown TCGA-04-1655-01A-01W-0633-09 TCGA-04-1655-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6 cb7913f1-11a0-4921-89c1-96048537cf18 4 35802953 35802953 T A SNP ARAP2 NM_015230 human genbank 54_36p -1 reviewed missense c.3672 p.K1224N 0.994 superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP HMMSmart_SM00454,superfamily_SAM/Pointed domain,HMMPfam_SAM_1,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_Pyk2-associated protein beta ARF-GAP domain,HMMPfam_ArfGap,HMMSmart_SM00105,superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP,HMMPfam_RA - no_errors SLC22A14 9389 genome.wustl.edu 36 3 38332911 38332911 + Missense_Mutation SNP T T A novel unknown TCGA-04-1655-01A-01W-0633-09 TCGA-04-1655-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6 cb7913f1-11a0-4921-89c1-96048537cf18 3 38332911 38332911 T A SNP SLC22A14 NM_004803 human genbank 54_36p +1 validated missense c.1625 p.I542N 0.008 superfamily_MFS general substrate transporter superfamily_MFS general substrate transporter,HMMPfam_MFS_1 - no_errors LOC645715 645715 genome.wustl.edu 36 3 39375622 39375622 + RNA SNP G G T novel unknown TCGA-04-1655-01A-01W-0633-09 TCGA-04-1655-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6 cb7913f1-11a0-4921-89c1-96048537cf18 3 39375622 39375622 G T SNP LOC645715 XR_017484 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene KIAA0355 9710 genome.wustl.edu 36 19 39483709 39483709 + Missense_Mutation SNP T T C novel unknown TCGA-04-1655-01A-01W-0633-09 TCGA-04-1655-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6 cb7913f1-11a0-4921-89c1-96048537cf18 19 39483709 39483709 T C SNP KIAA0355 NM_014686 human genbank 54_36p +1 validated missense c.491 p.I164T 1.000 NULL NULL - no_errors DSCAM 1826 genome.wustl.edu 36 21 40641534 40641534 + Silent SNP G G A novel unknown TCGA-04-1655-01A-01W-0633-09 TCGA-04-1655-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6 cb7913f1-11a0-4921-89c1-96048537cf18 21 40641534 40641534 G A SNP DSCAM NM_001389 human genbank 54_36p -1 validated silent c.1143 p.G381 0.906 superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig superfamily_Immunoglobulin,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,HMMSmart_SM00406,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3 - no_errors SIK1 150094 genome.wustl.edu 36 21 43661061 43661061 + Missense_Mutation SNP G G C novel unknown TCGA-04-1655-01A-01W-0633-09 TCGA-04-1655-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6 cb7913f1-11a0-4921-89c1-96048537cf18 21 43661061 43661061 G C SNP SIK1 NM_173354 human genbank 54_36p -1 validated missense c.2341 p.L781V 0.991 NULL superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMSmart_UBA - no_errors RYR1 6261 genome.wustl.edu 36 19 43700050 43700050 + Silent SNP C C T novel unknown TCGA-04-1655-01A-01W-0633-09 TCGA-04-1655-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6 cb7913f1-11a0-4921-89c1-96048537cf18 19 43700050 43700050 C T SNP RYR1 NM_000540 human genbank 54_36p +1 reviewed silent c.9897 p.G3299 0.152 NULL HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_RYDR_ITPR,HMMPfam_SPRY,HMMSmart_SM00449,HMMPfam_RyR,HMMPfam_RIH_assoc,superfamily_EF-hand,HMMPfam_RR_TM4-6,HMMPfam_Ion_trans - no_errors ANO6 196527 genome.wustl.edu 36 12 44083576 44083576 + Missense_Mutation SNP G G C novel unknown TCGA-04-1655-01A-01W-0633-09 TCGA-04-1655-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6 cb7913f1-11a0-4921-89c1-96048537cf18 12 44083576 44083576 G C SNP ANO6 NM_001025356 human genbank 54_36p +1 validated missense c.1870 p.V624L 1.000 HMMPfam_DUF590 HMMPfam_DUF590 - no_errors MKNK1 8569 genome.wustl.edu 36 1 46821527 46821527 + Silent SNP C C A novel unknown TCGA-04-1655-01A-01W-0633-09 TCGA-04-1655-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6 cb7913f1-11a0-4921-89c1-96048537cf18 1 46821527 46821527 C A SNP MKNK1 NM_003684 human genbank 54_36p -1 validated silent c.96 p.R32 0.981 NULL superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors KRT78 196374 genome.wustl.edu 36 12 51527983 51527983 + Missense_Mutation SNP C C A novel unknown TCGA-04-1655-01A-01W-0633-09 TCGA-04-1655-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6 cb7913f1-11a0-4921-89c1-96048537cf18 12 51527983 51527983 C A SNP KRT78 NM_173352 human genbank 54_36p -1 reviewed missense c.574 p.D192Y 1.000 HMMPfam_Filament HMMPfam_Filament,PatternScan_IF - no_errors CHD9 80205 genome.wustl.edu 36 16 51847031 51847031 + Nonsense_Mutation SNP A A T novel unknown TCGA-04-1655-01A-01W-0633-09 TCGA-04-1655-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6 cb7913f1-11a0-4921-89c1-96048537cf18 16 51847031 51847031 A T SNP CHD9 NM_025134 human genbank 54_36p +1 validated nonsense c.4048 p.K1350* 1.000 superfamily_SSF52540 superfamily_Chromodomain-like,HMMSmart_CHROMO,HMMPfam_Chromo,superfamily_SSF52540,HMMSmart_DEXDc,HMMPfam_SNF2_N,HMMSmart_HELICc,HMMPfam_Helicase_C,HMMPfam_BRK,HMMSmart_BRK - no_errors RNF180 285671 genome.wustl.edu 36 5 63546084 63546084 + Missense_Mutation SNP G G C novel unknown TCGA-04-1655-01A-01W-0633-09 TCGA-04-1655-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6 cb7913f1-11a0-4921-89c1-96048537cf18 5 63546084 63546084 G C SNP RNF180 NM_178532 human genbank 54_36p +1 validated missense c.1175 p.R392T 1.000 NULL NULL - no_errors SYT12 91683 genome.wustl.edu 36 11 66572751 66572751 + Missense_Mutation SNP T T A novel unknown TCGA-04-1655-01A-01W-0633-09 TCGA-04-1655-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6 cb7913f1-11a0-4921-89c1-96048537cf18 11 66572751 66572751 T A SNP SYT12 NM_177963 human genbank 54_36p +1 provisional missense c.1213 p.L405M 1.000 superfamily_C2_CaLB,HMMSmart_C2 superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2 - no_errors CCDC33 80125 genome.wustl.edu 36 15 72351107 72351107 + Missense_Mutation SNP G G A novel unknown TCGA-04-1655-01A-01W-0633-09 TCGA-04-1655-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6 cb7913f1-11a0-4921-89c1-96048537cf18 15 72351107 72351107 G A SNP CCDC33 NM_025055 human genbank 54_36p +1 validated missense c.557 p.R186Q 0.987 NULL superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_C2 - no_errors CCT7 10574 genome.wustl.edu 36 2 73329796 73329796 + Missense_Mutation SNP A A T novel unknown TCGA-04-1655-01A-01W-0633-09 TCGA-04-1655-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6 cb7913f1-11a0-4921-89c1-96048537cf18 2 73329796 73329796 A T SNP CCT7 NM_006429 human genbank 54_36p +1 reviewed missense c.953 p.D318V 1.000 superfamily_GroEL equatorial domain-like,HMMPfam_Cpn60_TCP1,superfamily_GroEL-intermediate domain like,superfamily_GroEL apical domain-like superfamily_GroEL equatorial domain-like,HMMPfam_Cpn60_TCP1,PatternScan_TCP1_1,PatternScan_TCP1_2,PatternScan_TCP1_3,superfamily_GroEL-intermediate domain like,superfamily_GroEL apical domain-like - no_errors GTF2I 2969 genome.wustl.edu 36 7 73797044 73797044 + Missense_Mutation SNP G G A novel unknown TCGA-04-1655-01A-01W-0633-09 TCGA-04-1655-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6 cb7913f1-11a0-4921-89c1-96048537cf18 7 73797044 73797044 G A SNP GTF2I NM_032999 human genbank 54_36p +1 reviewed missense c.1762 p.G588R 0.998 HMMPfam_GTF2I HMMPfam_GTF2I - no_errors ROBO1 6091 genome.wustl.edu 36 3 78779493 78779493 + Missense_Mutation SNP G C C novel unknown TCGA-04-1655-01A-01W-0633-09 TCGA-04-1655-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6 cb7913f1-11a0-4921-89c1-96048537cf18 3 78779493 78779493 G C SNP ROBO1 NM_002941 human genbank 54_36p -1 reviewed missense c.2815 p.P939A 1.000 NULL superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMSmart_SM00406,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3 - no_errors TPBG 7162 genome.wustl.edu 36 6 83132111 83132111 + Silent SNP C C T novel unknown TCGA-04-1655-01A-01W-0633-09 TCGA-04-1655-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6 cb7913f1-11a0-4921-89c1-96048537cf18 6 83132111 83132111 C T SNP TPBG NM_006670 human genbank 54_36p +1 provisional silent c.714 p.H238 0.881 superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1 HMMPfam_LRRNT,HMMSmart_SM00013,superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00082,HMMPfam_LRRCT - no_errors KIF27 55582 genome.wustl.edu 36 9 85708239 85708239 + Silent SNP T T G novel unknown TCGA-04-1655-01A-01W-0633-09 TCGA-04-1655-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6 cb7913f1-11a0-4921-89c1-96048537cf18 9 85708239 85708239 T G SNP KIF27 NM_017576 human genbank 54_36p -1 provisional silent c.1014 p.A338 0.999 HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Kinesin HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1 - no_errors LOC729466 729466 genome.wustl.edu 36 11 92908536 92908536 + RNA SNP C C A novel unknown TCGA-04-1655-01A-01W-0633-09 TCGA-04-1655-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6 cb7913f1-11a0-4921-89c1-96048537cf18 11 92908536 92908536 C A SNP LOC729466 XR_015916 human genbank 54_36p +1 model rna NULL NULL 0.998 - - - pseudogene RUNX1T1 862 genome.wustl.edu 36 8 93041864 93041864 + Nonsense_Mutation SNP G G A novel unknown TCGA-04-1655-01A-01W-0633-09 TCGA-04-1655-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6 cb7913f1-11a0-4921-89c1-96048537cf18 8 93041864 93041864 G A SNP RUNX1T1 NM_175634 human genbank 54_36p -1 reviewed nonsense c.1597 p.R533* 1.000 HMMPfam_zf-MYND,PatternScan_ZF_MYND_1 HMMPfam_TAFH,HMMSmart_SM00549,HMMPfam_NHR2,HMMPfam_zf-MYND,PatternScan_ZF_MYND_1 - no_errors ACTR6 64431 genome.wustl.edu 36 12 99141798 99141798 + Missense_Mutation SNP G G C novel unknown TCGA-04-1655-01A-01W-0633-09 TCGA-04-1655-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6 cb7913f1-11a0-4921-89c1-96048537cf18 12 99141798 99141798 G C SNP ACTR6 NM_022496 human genbank 54_36p +1 validated missense c.1165 p.V389L 0.975 HMMSmart_SM00268,HMMPfam_Actin,superfamily_Actin-like ATPase domain superfamily_Actin-like ATPase domain,HMMSmart_SM00268,HMMPfam_Actin - no_errors EMCN 51705 genome.wustl.edu 36 4 101561483 101561483 + Missense_Mutation SNP T T A novel unknown TCGA-04-1655-01A-01W-0633-09 TCGA-04-1655-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6 cb7913f1-11a0-4921-89c1-96048537cf18 4 101561483 101561483 T A SNP EMCN NM_016242 human genbank 54_36p -1 provisional missense c.643 p.M215L 1.000 HMMPfam_Endomucin HMMPfam_Endomucin - no_errors DDX54 79039 genome.wustl.edu 36 12 112088046 112088046 + Missense_Mutation SNP G G T novel unknown TCGA-04-1655-01A-01W-0633-09 TCGA-04-1655-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6 cb7913f1-11a0-4921-89c1-96048537cf18 12 112088046 112088046 G T SNP DDX54 NM_024072 human genbank 54_36p -1 reviewed missense c.1589 p.S530Y 1.000 NULL superfamily_SSF52540,HMMSmart_DEXDc,HMMPfam_DEAD,PatternScan_DEAD_ATP_HELICASE,HMMSmart_HELICc,HMMPfam_Helicase_C,HMMPfam_DBP10CT - no_errors MUSK 4593 genome.wustl.edu 36 9 112471051 112471051 + Missense_Mutation SNP G G C novel unknown TCGA-04-1655-01A-01W-0633-09 TCGA-04-1655-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6 cb7913f1-11a0-4921-89c1-96048537cf18 9 112471051 112471051 G C SNP MUSK NM_005592 human genbank 54_36p +1 validated missense c.46 p.V16L 1.000 NULL 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 CTTNBP2 83992 genome.wustl.edu 36 7 117218734 117218734 + Silent SNP C C T novel unknown TCGA-04-1655-01A-01W-0633-09 TCGA-04-1655-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6 cb7913f1-11a0-4921-89c1-96048537cf18 7 117218734 117218734 C T SNP CTTNBP2 NM_033427 human genbank 54_36p -1 reviewed silent c.1752 p.V584 0.901 HMMPfam_CortBP2 HMMPfam_CortBP2,superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank - no_errors BCL9L 283149 genome.wustl.edu 36 11 118278921 118278921 + Silent SNP G T T novel unknown TCGA-04-1655-01A-01W-0633-09 TCGA-04-1655-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6 cb7913f1-11a0-4921-89c1-96048537cf18 11 118278921 118278921 G T SNP BCL9L NM_182557 human genbank 54_36p -1 validated silent c.822 p.A274 0.995 NULL PatternScan_RIBOSOMAL_S6E - no_errors LOC100132656 0 genome.wustl.edu 36 4 119335279 119335279 + RNA SNP G G A novel unknown TCGA-04-1655-01A-01W-0633-09 TCGA-04-1655-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6 cb7913f1-11a0-4921-89c1-96048537cf18 4 119335279 119335279 G A SNP LOC100132656 XR_039330 human genbank 54_36p -1 model rna NULL NULL 0.838 - - - pseudogene LOC391075 391075 genome.wustl.edu 36 1 119806738 119806738 + RNA SNP G G C novel unknown TCGA-04-1655-01A-01W-0633-09 TCGA-04-1655-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6 cb7913f1-11a0-4921-89c1-96048537cf18 1 119806738 119806738 G C SNP LOC391075 XR_016557 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene KIAA1109 84162 genome.wustl.edu 36 4 123387899 123387899 + Missense_Mutation SNP G G C novel unknown TCGA-04-1655-01A-01W-0633-09 TCGA-04-1655-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6 cb7913f1-11a0-4921-89c1-96048537cf18 4 123387899 123387899 G C SNP KIAA1109 NM_015312 human genbank 54_36p +1 validated missense c.5449 p.E1817Q 1.000 NULL PatternScan_ASP_PROTEASE,HMMPfam_FSA_C - no_errors CNTNAP5 129684 genome.wustl.edu 36 2 125388318 125388318 + Missense_Mutation SNP C C T novel unknown TCGA-04-1655-01A-01W-0633-09 TCGA-04-1655-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6 cb7913f1-11a0-4921-89c1-96048537cf18 2 125388318 125388318 C T SNP CNTNAP5 NM_130773 human genbank 54_36p +1 reviewed missense c.3904 p.R1302W 0.980 NULL 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 - no_errors FAT4 79633 genome.wustl.edu 36 4 126590229 126590229 + Missense_Mutation SNP C C G novel unknown TCGA-04-1655-01A-01W-0633-09 TCGA-04-1655-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6 cb7913f1-11a0-4921-89c1-96048537cf18 4 126590229 126590229 C G SNP FAT4 NM_024582 human genbank 54_36p +1 validated missense c.8608 p.P2870A 1.000 HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_SSF57196,HMMSmart_EGF,PatternScan_EGF_1,PatternScan_EGF_2,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_EGF_CA,PatternScan_ASX_HYDROXYL,superfamily_ConA_like_lec_gl,HMMSmart_LamG,HMMPfam_Laminin_G_2,HMMPfam_EGF - no_errors EPHB1 2047 genome.wustl.edu 36 3 136334444 136334444 + Missense_Mutation SNP C C T rs56396912 unknown TCGA-04-1655-01A-01W-0633-09 TCGA-04-1655-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6 cb7913f1-11a0-4921-89c1-96048537cf18 3 136334444 136334444 C T SNP EPHB1 NM_004441 human genbank 54_36p +1 reviewed missense c.1160 p.T387M 0.996 superfamily_Fibronectin type III,HMMPfam_fn3,HMMSmart_SM00060 superfamily_Galactose-binding domain-like,HMMPfam_Ephrin_lbd,HMMSmart_SM00615,PatternScan_RECEPTOR_TYR_KIN_V_1,PatternScan_RECEPTOR_TYR_KIN_V_2,PatternScan_EGF_2,superfamily_Fibronectin type III,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR,superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_1 - no_errors OTUD7B 56957 genome.wustl.edu 36 1 148202806 148202806 + Missense_Mutation SNP G G A novel unknown TCGA-04-1655-01A-01W-0633-09 TCGA-04-1655-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6 cb7913f1-11a0-4921-89c1-96048537cf18 1 148202806 148202806 G A SNP OTUD7B NM_020205 human genbank 54_36p -1 validated missense c.697 p.R233C 0.996 HMMPfam_OTU superfamily_UBA-like,HMMPfam_OTU,HMMSmart_SM00259 - no_errors PLCH1 23007 genome.wustl.edu 36 3 156686127 156686127 + Missense_Mutation SNP T T A novel unknown TCGA-04-1655-01A-01W-0633-09 TCGA-04-1655-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6 cb7913f1-11a0-4921-89c1-96048537cf18 3 156686127 156686127 T A SNP PLCH1 NM_014996 human genbank 54_36p -1 validated missense c.2596 p.N866Y 0.003 NULL superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,HMMSmart_EFh,HMMPfam_efhand,PatternScan_EF_HAND_1,superfamily_SSF47473,HMMPfam_efhand_like,HMMSmart_PLCXc,HMMPfam_PI-PLC-X,superfamily_PLC-like_Pdiesterase_TIM-brl,HMMPfam_PI-PLC-Y,HMMSmart_PLCYc,superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2 - no_errors F5 2153 genome.wustl.edu 36 1 167776315 167776315 + Missense_Mutation SNP T T C novel unknown TCGA-04-1655-01A-01W-0633-09 TCGA-04-1655-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6 cb7913f1-11a0-4921-89c1-96048537cf18 1 167776315 167776315 T C SNP F5 NM_000130 human genbank 54_36p -1 reviewed missense c.4637 p.Y1546C 0.991 NULL superfamily_Cupredoxins,HMMPfam_Cu-oxidase_3,PatternScan_MULTICOPPER_OXIDASE1,HMMPfam_LSPR,superfamily_Galactose-binding domain-like,HMMSmart_SM00231,HMMPfam_F5_F8_type_C,PatternScan_FA58C_1,PatternScan_FA58C_2 - no_errors PDE11A 50940 genome.wustl.edu 36 2 178471112 178471112 + Silent SNP G G T novel unknown TCGA-04-1655-01A-01W-0633-09 TCGA-04-1655-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6 cb7913f1-11a0-4921-89c1-96048537cf18 2 178471112 178471112 G T SNP PDE11A NM_016953 human genbank 54_36p -1 reviewed silent c.1221 p.V407 0.999 HMMPfam_GAF,HMMSmart_SM00065,superfamily_GAF domain-like superfamily_GAF domain-like,HMMPfam_GAF,HMMSmart_SM00065,superfamily_HD-domain/PDEase-like,HMMSmart_SM00471,HMMPfam_PDEase_I,PatternScan_PDEASE_I - no_errors PTPRN 5798 genome.wustl.edu 36 2 219873058 219873058 + Silent SNP G G A novel unknown TCGA-04-1655-01A-01W-0633-09 TCGA-04-1655-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6 cb7913f1-11a0-4921-89c1-96048537cf18 2 219873058 219873058 G A SNP PTPRN NM_002846 human genbank 54_36p -1 reviewed silent c.1329 p.V443 0.966 NULL superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1 - no_errors RYR2 6262 genome.wustl.edu 36 1 235726606 235726606 + Missense_Mutation SNP G G C novel unknown TCGA-04-1655-01A-01W-0633-09 TCGA-04-1655-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6 cb7913f1-11a0-4921-89c1-96048537cf18 1 235726606 235726606 G C SNP RYR2 NM_001035 human genbank 54_36p +1 reviewed missense c.2134 p.E712Q 1.000 HMMPfam_SPRY,HMMSmart_SM00449 HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_RYDR_ITPR,HMMPfam_SPRY,HMMSmart_SM00449,HMMPfam_RyR,HMMPfam_RIH_assoc,superfamily_EF-hand,HMMPfam_RR_TM4-6,HMMPfam_Ion_trans - no_errors FBN3 84467 genome.wustl.edu 36 19 8107138 8107140 + In_Frame_Del DEL GGG GGG - novel unknown TCGA-04-1655-01A-01W-0633-09 TCGA-04-1655-10A-01W-0633-09 GGG GGG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6 cb7913f1-11a0-4921-89c1-96048537cf18 19 8107138 8107140 GGG - DEL FBN3 NM_032447 human genbank 54_36p -1 reviewed in_frame_del c.1401_1399 p.P467in_frame_del 0.918:0.987:0.991 PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_SM00179,superfamily_EGF/Laminin,HMMSmart_SM00181,PatternScan_ASX_HYDROXYL HMMSmart_SM00181,superfamily_EGF/Laminin,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_TB module/8-cys domain,HMMPfam_TB,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_SM00179,PatternScan_ASX_HYDROXYL,HMMPfam_EGF,superfamily_Growth factor receptor domain (deletion:cds_exon[8107074,8107193]) no_errors