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-ND4 4538 genome.wustl.edu 36 MT 11352 11352 + Missense_Mutation SNP G G A novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de MT 11352 11352 G A SNP MT-ND4 ENST00000361381 human ensembl 54_36p +1 known missense c.592 p.A198T NULL HMMPfam_Oxidored_q1 HMMPfam_Oxidored_q5_N,HMMPfam_Oxidored_q1 - no_stop_codon:bad_bp_length_for_coding_region MT-ND4 4538 genome.wustl.edu 36 MT 11497 11497 + Missense_Mutation SNP T C C novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de MT 11497 11497 T C SNP MT-ND4 ENST00000361381 human ensembl 54_36p +1 known missense c.737 p.L246P NULL HMMPfam_Oxidored_q1 HMMPfam_Oxidored_q5_N,HMMPfam_Oxidored_q1 - no_stop_codon:bad_bp_length_for_coding_region C17orf97 0 genome.wustl.edu 36 17 264028 264028 + Missense_Mutation SNP G G A novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 17 264028 264028 G A SNP C17orf97 NM_001013672 human genbank 54_36p +1 validated missense c.1078 p.E360K 0.000 NULL NULL - no_errors MIDN 90007 genome.wustl.edu 36 19 1208190 1208190 + Silent SNP C T T novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 19 1208190 1208190 C T SNP MIDN NM_177401 human genbank 54_36p +1 validated silent c.1326 p.S442 0.922 NULL superfamily_Ubiquitin-like,HMMSmart_SM00213,HMMPfam_ubiquitin - no_errors OR51B6 390058 genome.wustl.edu 36 11 5329908 5329908 + Missense_Mutation SNP G G A novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 11 5329908 5329908 G A SNP OR51B6 NM_001004750 human genbank 54_36p +1 provisional missense c.595 p.V199I 0.017 superfamily_SSF81321,HMMPfam_7tm_1 PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1 - no_errors LOC729449 729449 genome.wustl.edu 36 19 6544972 6544972 + RNA SNP G G T novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 19 6544972 6544972 G T SNP LOC729449 XR_038133 human genbank 54_36p +1 model rna NULL NULL 0.998 - - - pseudogene TP53 7157 genome.wustl.edu 36 17 7519203 7519203 + Missense_Mutation SNP G C C novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 17 7519203 7519203 G C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.452 p.P151R 0.998 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 CA6 765 genome.wustl.edu 36 1 8957020 8957020 + Missense_Mutation SNP G G A novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 1 8957020 8957020 G A SNP CA6 ENST00000377436 human ensembl 54_36p +1 known missense c.872 p.R291K 0.141 NULL superfamily_Euk_COanhd,HMMPfam_Carb_anhydrase,PatternScan_ALPHA_CA_1 - no_errors TPTE 7179 genome.wustl.edu 36 21 9966591 9966591 + Missense_Mutation SNP C C A novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 21 9966591 9966591 C A SNP TPTE NM_199261 human genbank 54_36p -1 validated missense c.514 p.V172F 0.001 superfamily_Voltage-gated potassium channels superfamily_Voltage-gated potassium channels,superfamily_(Phosphotyrosine protein) phosphatases II,PatternScan_TYR_PHOSPHATASE_1,HMMPfam_PTEN_C2,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) - no_errors ELOVL2 54898 genome.wustl.edu 36 6 11098034 11098034 + Missense_Mutation SNP G G A novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 6 11098034 11098034 G A SNP ELOVL2 NM_017770 human genbank 54_36p -1 validated missense c.653 p.T218M 0.522 HMMPfam_ELO HMMPfam_ELO,PatternScan_ELO - no_errors MAST1 22983 genome.wustl.edu 36 19 12819127 12819127 + Silent SNP C C T novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 19 12819127 12819127 C T SNP MAST1 NM_014975 human genbank 54_36p +1 provisional silent c.351 p.R117 1.000 HMMPfam_DUF1908 PatternScan_PROTEIN_KINASE_ATP,HMMPfam_DUF1908,superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST,HMMSmart_S_TK_X,HMMPfam_Pkinase_C,superfamily_PDZ,HMMSmart_PDZ,HMMPfam_PDZ - no_errors CECR8 27437 genome.wustl.edu 36 22 15689625 15689625 + RNA SNP A A C novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 22 15689625 15689625 A C SNP CECR8 NR_003607 human genbank 54_36p +1 provisional rna NULL NULL 0.133 - - - pseudogene IGSF21 84966 genome.wustl.edu 36 1 18564365 18564365 + Missense_Mutation SNP C C T novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 1 18564365 18564365 C T SNP IGSF21 NM_032880 human genbank 54_36p +1 provisional missense c.602 p.A201V 0.578 superfamily_SSF48726 superfamily_SSF48726,HMMPfam_V-set,HMMSmart_IG - no_errors TEP1 7011 genome.wustl.edu 36 14 19921237 19921237 + Missense_Mutation SNP C C T novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 14 19921237 19921237 C T SNP TEP1 NM_007110 human genbank 54_36p -1 reviewed missense c.3983 p.R1328Q 0.975 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_NACHT HMMPfam_TEP1_N,HMMPfam_TROVE,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_NACHT,HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40 - no_errors DOK2 9046 genome.wustl.edu 36 8 21823169 21823169 + Missense_Mutation SNP G G T novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 8 21823169 21823169 G T SNP DOK2 NM_003974 human genbank 54_36p -1 reviewed missense c.838 p.P280T 0.025 NULL superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,HMMPfam_IRS,HMMSmart_PTBI - no_errors C9orf72 203228 genome.wustl.edu 36 9 27538644 27538644 + Silent SNP G G A novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 9 27538644 27538644 G A SNP C9orf72 NM_018325 human genbank 54_36p -1 validated silent c.1170 p.G390 0.959 NULL NULL - no_errors C18orf34 374864 genome.wustl.edu 36 18 29079299 29079299 + Missense_Mutation SNP C C G novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 18 29079299 29079299 C G SNP C18orf34 NM_001105528 human genbank 54_36p -1 validated missense c.1501 p.E501Q 0.001 NULL NULL - no_errors PDS5B 23047 genome.wustl.edu 36 13 32242523 32242523 + Missense_Mutation SNP C C G novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 13 32242523 32242523 C G SNP PDS5B NM_015032 human genbank 54_36p +1 validated missense c.3889 p.L1297V 0.950 NULL superfamily_ARM repeat,HMMPfam_HEAT,HMMPfam_AT_hook - no_errors FHOD3 80206 genome.wustl.edu 36 18 32543149 32543149 + Missense_Mutation SNP C C A novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 18 32543149 32543149 C A SNP FHOD3 NM_025135 human genbank 54_36p +1 validated missense c.1805 p.A602D 0.812 NULL superfamily_ARM-type_fold,superfamily_FH2_actin_bd,HMMSmart_FH2,HMMPfam_FH2 - no_errors DLGAP4 22839 genome.wustl.edu 36 20 34561468 34561468 + Missense_Mutation SNP G G A novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 20 34561468 34561468 G A SNP DLGAP4 NM_183006 human genbank 54_36p +1 reviewed missense c.457 p.G153R 1.000 HMMPfam_GKAP HMMPfam_GKAP - no_errors GJB4 127534 genome.wustl.edu 36 1 34999537 34999537 + Missense_Mutation SNP G G A novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 1 34999537 34999537 G A SNP GJB4 NM_153212 human genbank 54_36p +1 validated missense c.95 p.R32H 0.998 HMMPfam_Connexin HMMPfam_Connexin,HMMSmart_SM00037,PatternScan_CONNEXINS_1,HMMPfam_Connexin_CCC,PatternScan_CONNEXINS_2 - no_errors C6orf222 389384 genome.wustl.edu 36 6 36406037 36406037 + Missense_Mutation SNP C C T novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 6 36406037 36406037 C T SNP C6orf222 NM_001010903 human genbank 54_36p -1 predicted missense c.409 p.E137K 0.002 NULL NULL - no_errors PIK3C3 5289 genome.wustl.edu 36 18 37877719 37877719 + Missense_Mutation SNP A A G novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 18 37877719 37877719 A G SNP PIK3C3 NM_002647 human genbank 54_36p +1 validated missense c.2128 p.S710G 1.000 superfamily_Kinase_like,HMMPfam_PI3_PI4_kinase,HMMSmart_PI3Kc HMMSmart_C2,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 CATSPER2P1 440278 genome.wustl.edu 36 15 41824659 41824659 + RNA SNP T G G novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 15 41824659 41824659 T G SNP CATSPER2P1 NR_002318 human genbank 54_36p -1 validated rna NULL NULL 0.990 - - - pseudogene GATM 2628 genome.wustl.edu 36 15 43445940 43445940 + Missense_Mutation SNP A A G novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 15 43445940 43445940 A G SNP GATM NM_001482 human genbank 54_36p -1 reviewed missense c.734 p.V245A 1.000 superfamily_Pentein,HMMPfam_Amidinotransf PatternScan_TONB_DEPENDENT_REC_1,superfamily_Pentein,HMMPfam_Amidinotransf - no_errors RYR1 6261 genome.wustl.edu 36 19 43672720 43672720 + Missense_Mutation SNP A A T novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 19 43672720 43672720 A T SNP RYR1 NM_000540 human genbank 54_36p +1 reviewed missense c.5979 p.R1993S 0.874 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 TBRG4 9238 genome.wustl.edu 36 7 45107727 45107727 + Missense_Mutation SNP G G T novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 7 45107727 45107727 G T SNP TBRG4 NM_004749 human genbank 54_36p -1 validated missense c.1579 p.L527M 1.000 HMMPfam_FAST_2 HMMPfam_FAST_1,HMMPfam_FAST_2,HMMPfam_RAP - no_errors CCR9 10803 genome.wustl.edu 36 3 45918019 45918019 + Missense_Mutation SNP G G T novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 3 45918019 45918019 G T SNP CCR9 NM_031200 human genbank 54_36p +1 reviewed missense c.735 p.K245N 1.000 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors SYT15 83849 genome.wustl.edu 36 10 46388671 46388671 + Silent SNP G G A novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 10 46388671 46388671 G A SNP SYT15 NM_031912 human genbank 54_36p -1 reviewed silent c.271 p.L91 0.005 NULL PatternScan_CNMP_BINDING_1,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2 - no_errors ABCC11 85320 genome.wustl.edu 36 16 46821875 46821875 + Silent SNP G G A novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 16 46821875 46821875 G A SNP ABCC11 NM_032583 human genbank 54_36p -1 reviewed silent c.210 p.T70 0.926 NULL superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1 - no_errors LOC732229 732229 genome.wustl.edu 36 19 47681626 47681626 + RNA SNP A A C novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 19 47681626 47681626 A C SNP LOC732229 XR_038811 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene ABCA13 154664 genome.wustl.edu 36 7 48286103 48286103 + Missense_Mutation SNP T T G novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 7 48286103 48286103 T G SNP ABCA13 NM_152701 human genbank 54_36p +1 reviewed missense c.6131 p.L2044R 0.000 NULL PatternScan_SERPIN - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region NCKAP1L 3071 genome.wustl.edu 36 12 53179495 53179495 + Missense_Mutation SNP C C A novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 12 53179495 53179495 C A SNP NCKAP1L NM_005337 human genbank 54_36p +1 reviewed missense c.192 p.N64K 1.000 HMMPfam_Nckap1 HMMPfam_Nckap1 - no_errors PLA2G4C 8605 genome.wustl.edu 36 19 53248115 53248115 + Missense_Mutation SNP C C T novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 19 53248115 53248115 C T SNP PLA2G4C NM_003706 human genbank 54_36p -1 provisional missense c.1531 p.V511I 0.004 superfamily_Acyl_Trfase/lysoPlipase HMMSmart_PLAc,superfamily_Acyl_Trfase/lysoPlipase,HMMPfam_PLA2_B - no_errors C1orf175 374977 genome.wustl.edu 36 1 54917681 54917681 + Missense_Mutation SNP G G T novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 1 54917681 54917681 G T SNP C1orf175 NM_001039464 human genbank 54_36p +1 validated missense c.2207 p.R736L 0.989 superfamily_ARM repeat superfamily_ARM repeat - no_errors DST 667 genome.wustl.edu 36 6 56507878 56507878 + Splice_Site SNP C C A novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 6 56507878 56507878 C A SNP DST NM_183380 human genbank 54_36p -1 reviewed splice_site c.10050+1 e54+1 1.000 - - - no_errors DST 667 genome.wustl.edu 36 6 56612065 56612065 + Missense_Mutation SNP A A G novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 6 56612065 56612065 A G SNP DST NM_183380 human genbank 54_36p -1 reviewed missense c.2282 p.I761T 1.000 HMMPfam_Spectrin,superfamily_Spectrin repeat,HMMSmart_SM00150 superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_SM00033,PatternScan_ACTININ_2,superfamily_Spectrin repeat,HMMSmart_SM00150,HMMPfam_Spectrin,superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1,HMMPfam_GAS2,HMMSmart_SM00243 - no_errors SLC43A3 29015 genome.wustl.edu 36 11 56949675 56949675 + Missense_Mutation SNP C C T novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 11 56949675 56949675 C T SNP SLC43A3 NM_014096 human genbank 54_36p -1 validated missense c.229 p.G77R 1.000 superfamily_MFS_gen_substrate_transporter superfamily_MFS_gen_substrate_transporter - no_errors OTX1 5013 genome.wustl.edu 36 2 63136439 63136439 + Silent SNP G G C novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 2 63136439 63136439 G C SNP OTX1 NM_014562 human genbank 54_36p +1 reviewed silent c.549 p.S183 0.621 NULL superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1,HMMPfam_TF_Otx - no_errors NRXN2 9379 genome.wustl.edu 36 11 64184978 64184978 + Missense_Mutation SNP G G T novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 11 64184978 64184978 G T SNP NRXN2 NM_015080 human genbank 54_36p -1 reviewed missense c.2008 p.L670I 0.489 superfamily_Concanavalin A-like lectins/glucanases superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2,HMMSmart_SM00181,HMMPfam_EGF,HMMSmart_SM00294 - no_errors LOC441442 0 genome.wustl.edu 36 9 67846989 67846989 + RNA SNP G G A novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 9 67846989 67846989 G A SNP LOC441442 XR_037084 human genbank 54_36p -1 model rna NULL NULL 0.336 - - - pseudogene ZNF366 167465 genome.wustl.edu 36 5 71775696 71775696 + Nonsense_Mutation SNP G G T novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 5 71775696 71775696 G T SNP ZNF366 NM_152625 human genbank 54_36p -1 provisional nonsense c.1878 p.Y626* 0.032 NULL superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors UBE2O 63893 genome.wustl.edu 36 17 71906013 71906013 + Missense_Mutation SNP T T G novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 17 71906013 71906013 T G SNP UBE2O NM_022066 human genbank 54_36p -1 validated missense c.1943 p.H648P 1.000 NULL PatternScan_UBIQUITIN_CONJUGAT_1,superfamily_UBQ-conjugat/RWD-like,HMMSmart_UBCc,HMMPfam_UQ_con - no_errors KIAA2022 340533 genome.wustl.edu 36 X 73877085 73877085 + Silent SNP G G T novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de X 73877085 73877085 G T SNP KIAA2022 NM_001008537 human genbank 54_36p -1 validated silent c.4032 p.P1344 1.000 NULL NULL - no_errors LOC441505 441505 genome.wustl.edu 36 X 85227748 85227748 + RNA SNP G G A novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de X 85227748 85227748 G A SNP LOC441505 XR_016229 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene RASA1 5921 genome.wustl.edu 36 5 86716923 86716923 + Silent SNP T T G novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 5 86716923 86716923 T G SNP RASA1 NM_002890 human genbank 54_36p +1 reviewed silent c.2808 p.S936 1.000 HMMSmart_SM00323,superfamily_GTPase activation domain GAP,HMMPfam_RasGAP superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,HMMSmart_SM00323,superfamily_GTPase activation domain GAP,HMMPfam_RasGAP,PatternScan_RAS_GTPASE_ACTIV_1 - no_errors CEP290 80184 genome.wustl.edu 36 12 86980623 86980623 + Missense_Mutation SNP G G A novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 12 86980623 86980623 G A SNP CEP290 NM_025114 human genbank 54_36p -1 reviewed missense c.6334 p.R2112W 0.996 NULL NULL - no_errors BARHL2 343472 genome.wustl.edu 36 1 90952853 90952853 + Missense_Mutation SNP G G C novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 1 90952853 90952853 G C SNP BARHL2 NM_020063 human genbank 54_36p -1 validated missense c.674 p.P225R 1.000 superfamily_Homeodomain_like superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1 - no_errors SLC15A1 6564 genome.wustl.edu 36 13 98160121 98160121 + Splice_Site SNP C C T novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 13 98160121 98160121 C T SNP SLC15A1 NM_005073 human genbank 54_36p -1 validated splice_site c.945+1 e12+1 1.000 - - - no_errors SLC5A8 160728 genome.wustl.edu 36 12 100084436 100084436 + Missense_Mutation SNP G G C novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 12 100084436 100084436 G C SNP SLC5A8 NM_145913 human genbank 54_36p -1 validated missense c.1493 p.T498S 0.999 NULL HMMPfam_SSF - no_errors TCEAL4 79921 genome.wustl.edu 36 X 102728396 102728396 + Missense_Mutation SNP A A C novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de X 102728396 102728396 A C SNP TCEAL4 NM_001006935 human genbank 54_36p +1 reviewed missense c.137 p.K46T 0.014 HMMPfam_TFA HMMPfam_TFA - no_errors LOC100130492 0 genome.wustl.edu 36 12 103432202 103432202 + RNA SNP T T C novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 12 103432202 103432202 T C SNP LOC100130492 XR_038654 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene C6orf224 222521 genome.wustl.edu 36 6 109921981 109921981 + Missense_Mutation SNP G G A novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 6 109921981 109921981 G A SNP C6orf224 NM_173559 human genbank 54_36p -1 predicted missense c.626 p.T209I 0.979 NULL NULL - no_errors TSPYL1 7259 genome.wustl.edu 36 6 116706630 116706630 + Missense_Mutation SNP T T A novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 6 116706630 116706630 T A SNP TSPYL1 NM_003309 human genbank 54_36p -1 validated missense c.1057 p.T353S 0.998 HMMPfam_NAP HMMPfam_NAP - no_errors TBX15 6913 genome.wustl.edu 36 1 119229323 119229323 + Missense_Mutation SNP G G A novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 1 119229323 119229323 G A SNP TBX15 NM_152380 human genbank 54_36p -1 validated missense c.1046 p.S349L 1.000 NULL superfamily_P53_like_DNA_bnd,HMMSmart_TBOX,HMMPfam_T-box,PatternScan_TBOX_1,PatternScan_TBOX_2 - no_errors GSN 2934 genome.wustl.edu 36 9 123129569 123129569 + Missense_Mutation SNP G A A novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 9 123129569 123129569 G A SNP GSN NM_000177 human genbank 54_36p +1 reviewed missense c.1903 p.G635S 1.000 superfamily_Actin depolymerizing proteins,HMMSmart_SM00262,HMMPfam_Gelsolin superfamily_Actin depolymerizing proteins,HMMSmart_SM00262,HMMPfam_Gelsolin - no_errors NEK11 79858 genome.wustl.edu 36 3 132231399 132231399 + Nonsense_Mutation SNP C C T novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 3 132231399 132231399 C T SNP NEK11 NM_024800 human genbank 54_36p +1 reviewed nonsense c.157 p.R53* 0.939 superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST - no_errors WDR91 29062 genome.wustl.edu 36 7 134544092 134544092 + Missense_Mutation SNP G G T novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 7 134544092 134544092 G T SNP WDR91 NM_014149 human genbank 54_36p -1 validated missense c.502 p.Q168K 1.000 NULL superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40 - no_errors TRIM24 8805 genome.wustl.edu 36 7 137796448 137796448 + Silent SNP T T C novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 7 137796448 137796448 T C SNP TRIM24 ENST00000378381 human ensembl 54_36p +1 known silent c.99 p.I33 0.000 NULL HMMPfam_zf-B_box,HMMSmart_SM00336,HMMSmart_SM00502 - no_errors TMEM22 80723 genome.wustl.edu 36 3 138056095 138056095 + Missense_Mutation SNP G G A novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 3 138056095 138056095 G A SNP TMEM22 NM_001097599 human genbank 54_36p +1 validated missense c.103 p.D35N 1.000 NULL HMMPfam_DUF6,superfamily_SSF103481 - no_errors CEP70 80321 genome.wustl.edu 36 3 139696609 139696609 + Splice_Site SNP C C T novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 3 139696609 139696609 C T SNP CEP70 NM_024491 human genbank 54_36p -1 validated splice_site c.1733-1 e16-1 1.000 - - - no_errors IDS 3423 genome.wustl.edu 36 X 148392629 148392629 + Missense_Mutation SNP C C T novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de X 148392629 148392629 C T SNP IDS ENST00000370438 human ensembl 54_36p -1 known missense c.536 p.R179H 0.000 NULL HMMPfam_Sulfatase,superfamily_Alkaline_phosphatase_core,PatternScan_SULFATASE_1,PatternScan_SULFATASE_2 - no_errors GALNT5 11227 genome.wustl.edu 36 2 157823276 157823276 + Missense_Mutation SNP G G A novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 2 157823276 157823276 G A SNP GALNT5 NM_014568 human genbank 54_36p +1 provisional missense c.436 p.G146R 0.001 NULL superfamily_Nucleotide-diphospho-sugar transferases,PatternScan_ALPHA_2_MACROGLOBULIN,HMMPfam_Glycos_transf_2,superfamily_Ricin B-like lectins,HMMSmart_SM00458,HMMPfam_Ricin_B_lectin - no_errors TIPARP 25976 genome.wustl.edu 36 3 157878198 157878198 + Silent SNP C C T novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 3 157878198 157878198 C T SNP TIPARP NM_015508 human genbank 54_36p +1 provisional silent c.18 p.T6 0.585 NULL HMMPfam_zf-CCCH,superfamily_SSF56399,HMMPfam_PARP - no_errors LPA 4018 genome.wustl.edu 36 6 160947549 160947549 + Missense_Mutation SNP G G A novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 6 160947549 160947549 G A SNP LPA NM_005577 human genbank 54_36p -1 validated missense c.2735 p.A912V 0.000 superfamily_Kringle-like superfamily_Kringle-like,HMMSmart_SM00130,HMMPfam_Kringle,PatternScan_KRINGLE_1,superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER - no_errors FIGN 55137 genome.wustl.edu 36 2 164176481 164176481 + Missense_Mutation SNP G G T novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 2 164176481 164176481 G T SNP FIGN NM_018086 human genbank 54_36p -1 validated missense c.107 p.A36D 1.000 NULL superfamily_SSF52540,HMMSmart_AAA,HMMPfam_AAA,PatternScan_AAA - no_errors KIF21B 23046 genome.wustl.edu 36 1 199220676 199220676 + Missense_Mutation SNP G G A novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 1 199220676 199220676 G A SNP KIF21B NM_017596 human genbank 54_36p -1 provisional missense c.3737 p.P1246L 1.000 superfamily_WD40_like HMMSmart_KISc,superfamily_SSF52540,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_WD40_like,superfamily_Prefoldin,HMMSmart_WD40,HMMPfam_WD40,PatternScan_WD_REPEATS_1 - no_errors NAV1 89796 genome.wustl.edu 36 1 200044452 200044452 + Splice_Site SNP A A C novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 1 200044452 200044452 A C SNP NAV1 NM_020443 human genbank 54_36p +1 reviewed splice_site c.4030-2 e19-2 0.979 - - - no_errors FAM71A 149647 genome.wustl.edu 36 1 210864974 210864974 + Silent SNP G G A novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 1 210864974 210864974 G A SNP FAM71A NM_153606 human genbank 54_36p +1 predicted silent c.132 p.P44 0.001 NULL NULL - no_errors SPHAR 10638 genome.wustl.edu 36 1 227507655 227507655 + Missense_Mutation SNP A A C novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 1 227507655 227507655 A C SNP SPHAR NM_006542 human genbank 54_36p +1 validated missense c.151 p.N51H 0.000 NULL NULL - no_errors COL4A4 1286 genome.wustl.edu 36 2 227671747 227671747 + Missense_Mutation SNP C C A novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 2 227671747 227671747 C A SNP COL4A4 NM_000092 human genbank 54_36p -1 reviewed missense c.1111 p.D371Y 1.000 HMMPfam_Collagen HMMPfam_Collagen,HMMPfam_C4,HMMSmart_SM00111,superfamily_C-type lectin-like - no_errors ALPP 250 genome.wustl.edu 36 2 232954491 232954491 + Missense_Mutation SNP C G G novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 2 232954491 232954491 C G SNP ALPP NM_001632 human genbank 54_36p +1 reviewed missense c.1350 p.D450E 0.000 superfamily_Alkaline_phosphatase_core,HMMPfam_Alk_phosphatase,HMMSmart_alkPPc superfamily_Alkaline_phosphatase_core,HMMPfam_Alk_phosphatase,HMMSmart_alkPPc,PatternScan_ALKALINE_PHOSPHATASE - no_errors ACTN2 88 genome.wustl.edu 36 1 234985044 234985044 + Missense_Mutation SNP G G A novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 1 234985044 234985044 G A SNP ACTN2 NM_001103 human genbank 54_36p +1 reviewed missense c.2077 p.D693N 1.000 superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150 superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_SM00033,PatternScan_ACTININ_2,superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,HMMPfam_efhand_Ca_insen - no_errors COL6A3 1293 genome.wustl.edu 36 2 237940345 237940345 + Missense_Mutation SNP G G A novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 2 237940345 237940345 G A SNP COL6A3 NM_004369 human genbank 54_36p -1 reviewed missense c.5224 p.R1742W 0.997 superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA HMMSmart_SM00327,superfamily_vWA-like,HMMPfam_VWA,HMMPfam_Collagen,superfamily_Fibronectin type III,superfamily_BPTI-like,HMMSmart_SM00131,HMMPfam_Kunitz_BPTI,PatternScan_BPTI_KUNITZ_1 - no_errors OR2M4 26245 genome.wustl.edu 36 1 246469653 246469653 + Missense_Mutation SNP C C T novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 1 246469653 246469653 C T SNP OR2M4 NM_017504 human genbank 54_36p +1 provisional missense c.800 p.T267M 0.000 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors ENSG00000111788 0 genome.wustl.edu 36 12 9337718 9337719 + In_Frame_Ins INS - - GGTTACTCA novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 12 9337718 9337719 - GGTTACTCA INS ENSG00000111788 ENST00000341155 human ensembl 54_36p +1 known in_frame_ins c.338_339 p.117in_frame_insVTQ 1.000:1.000 superfamily_SSF52540,HMMSmart_DEXDc2 superfamily_SSF52540,HMMSmart_DEXDc2,HMMPfam_DEAD_2,HMMSmart_HELICc2 - no_errors NF1 4763 genome.wustl.edu 36 17 26565600 26565601 + Frame_Shift_Ins INS - - A novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 17 26565600 26565601 - A INS NF1 NM_001042492 human genbank 54_36p +1 reviewed frame_shift_ins c.1398_1399 p.T466fs 1.000:1.000 NULL HMMSmart_SM00323,superfamily_GTPase activation domain GAP,HMMPfam_RasGAP,PatternScan_RAS_GTPASE_ACTIV_1,HMMSmart_SM00516 - no_errors UTX 7403 genome.wustl.edu 36 X 44822613 44822614 + Frame_Shift_Del DEL TT TT - novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 TT TT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de X 44822613 44822614 TT - DEL UTX NM_021140 human genbank 54_36p +1 validated frame_shift_del c.2857_2858 p.F953fs 1.000:1.000 NULL superfamily_SSF48452,HMMPfam_TPR_1,HMMSmart_TPR,HMMSmart_JmjC,HMMPfam_JmjC (deletion:cds_exon[44822589,44822694]) no_errors B4GALT5 9334 genome.wustl.edu 36 20 47706547 47706553 + Frame_Shift_Del DEL GCACTCC GCACTCC - novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 GCACTCC GCACTCC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 20 47706547 47706553 GCACTCC - DEL B4GALT5 NM_004776 human genbank 54_36p -1 validated frame_shift_del c.215_209 p.R70fs 0.997:1.000:1.000:1.000:1.000:0.996:1.000 NULL superfamily_SSF53448,HMMPfam_Galactosyl_T_2 (deletion:cds_exon[47706512,47706646]) no_errors TNFAIP8L3 388121 genome.wustl.edu 36 15 49137718 49137718 + Frame_Shift_Del DEL C C - novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 15 49137718 49137718 C - DEL TNFAIP8L3 NM_207381 human genbank 54_36p -1 provisional frame_shift_del c.531 p.I178fs 1.000 HMMPfam_DUF758 HMMPfam_DUF758 (deletion:cds_exon[49137370,49137932]) no_errors EVL 51466 genome.wustl.edu 36 14 99633740 99633742 + In_Frame_Del DEL AAG AAG - novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 AAG AAG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 14 99633740 99633742 AAG - DEL EVL NM_016337 human genbank 54_36p +1 validated in_frame_del c.350_352 p.E118in_frame_del 1.000:0.991:1.000 superfamily_SSF50729 superfamily_SSF50729,HMMPfam_WH1,HMMSmart_WH1,HMMPfam_VASP_tetra (deletion:cds_exon[99633571,99633748]) no_errors FLJ43860 389690 genome.wustl.edu 36 8 142515975 142515977 + In_Frame_Del DEL AAG AAG - novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 AAG AAG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 8 142515975 142515977 AAG - DEL FLJ43860 NM_207414 human genbank 54_36p -1 validated in_frame_del c.3392_3390 p.F1131in_frame_del 0.986:0.986:0.974 superfamily_ARM repeat superfamily_ARM repeat,HMMPfam_HEAT (deletion:cds_exon[142515968,142516144]) pseudogene TOR1AIP2 163590 genome.wustl.edu 36 1 178082263 178082264 + Frame_Shift_Del DEL GA GA - novel unknown TCGA-30-1714-01A-02W-0633-09 TCGA-30-1714-10A-01W-0633-09 GA GA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx eb2a14f5-3531-4ac2-857a-0a669371be62 64e6b0b5-cf9c-4872-be9f-867a0a40e8de 1 178082263 178082264 GA - DEL TOR1AIP2 NM_145034 human genbank 54_36p -1 provisional frame_shift_del c.979_978 p.P327fs 0.977:0.981 HMMPfam_LAP1C HMMPfam_LAP1C (deletion:cds_exon[178081829,178082586]) no_errors