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 default_gene_name gene_name_source ACD 65057 genome.wustl.edu 37 16 67692539 67692539 + Missense_Mutation SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 16 67692539 67692539 C T SNP ACD ENST00000219251 human ensembl 70_37 -1 known missense c.997 p.E333K 0.011 NULL pfam_Telomere_Pot1 - no_errors ACD HGNC PHYKPL 85007 genome.wustl.edu 37 5 177658509 177658509 + Silent SNP G G T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 5 177658509 177658509 G T SNP AGXT2L2 ENST00000308158 human ensembl 70_37 -1 known silent c.75 p.L25 1.000 NULL pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors AGXT2L2 HGNC ALAS2 212 genome.wustl.edu 37 X 55041279 55041279 + Silent SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 X 55041279 55041279 C T SNP ALAS2 ENST00000330807 human ensembl 70_37 -1 known silent c.1338 p.L446 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4pyrrol_synth_NH2levulA_synth pfam_Aminotransferase_I/II,pfam_5aminolev_synth_preseq,pfam_Aminotrans_V/Cys_dSase,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4pyrrol_synth_NH2levulA_synth - no_errors ALAS2 HGNC ANKLE1 126549 genome.wustl.edu 37 19 17397495 17397495 + Missense_Mutation SNP G G T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 19 17397495 17397495 G T SNP ANKLE1 ENST00000598347 human ensembl 70_37 +1 putative missense c.1765 p.V589L 0.072 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Lactate_DH/Glyco_Ohase_4_C,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKLE1 HGNC APOBEC4 403314 genome.wustl.edu 37 1 183617142 183617142 + Missense_Mutation SNP C C G TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 1 183617142 183617142 C G SNP APOBEC4 ENST00000308641 human ensembl 70_37 -1 known missense c.775 p.E259Q 0.002 NULL pfam_APOBEC_N - no_errors APOBEC4 HGNC AS3MT 57412 genome.wustl.edu 37 10 104632312 104632312 + Missense_Mutation SNP G G T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 10 104632312 104632312 G T SNP AS3MT ENST00000369880 human ensembl 70_37 +1 known missense c.278 p.G93V 1.000 pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransf_12,pfam_PCMT pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransf_12,pfam_PCMT,pfam_Methyltransferase-rel - no_errors AS3MT HGNC BCL7C 9274 genome.wustl.edu 37 16 30846270 30846270 + Nonstop_Mutation SNP C C G TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 16 30846270 30846270 C G SNP BCL7C ENST00000380317 human ensembl 70_37 -1 known nonstop c.728 p.*243S 1.000 NULL pfam_BCL7 - no_errors BCL7C HGNC BUB1B 701 genome.wustl.edu 37 15 40498657 40498657 + Silent SNP G G C TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 15 40498657 40498657 G C SNP BUB1B ENST00000412359 human ensembl 70_37 +1 known silent c.2049 p.L683 0.998 NULL pfam_Mad3_BUB1_I,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I - no_errors BUB1B HGNC C17orf62 79415 genome.wustl.edu 37 17 80401643 80401643 + Nonsense_Mutation SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 17 80401643 80401643 C T SNP C17orf62 ENST00000336995 human ensembl 70_37 -1 known nonsense c.356 p.W119* 0.011 NULL NULL - no_errors C17orf62 HGNC C2CD3 26005 genome.wustl.edu 37 11 73849868 73849868 + Silent SNP C C G TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 11 73849868 73849868 C G SNP C2CD3 ENST00000334126 human ensembl 70_37 -1 known silent c.852 p.L284 0.998 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep - no_errors C2CD3 HGNC CNOT11 55571 genome.wustl.edu 37 2 101869796 101869812 + Frame_Shift_Del DEL CGCCTCACGGCGCTCTA CGCCTCACGGCGCTCTA - TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 CGCCTCACGGCGCTCTA CGCCTCACGGCGCTCTA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 2 101869796 101869812 CGCCTCACGGCGCTCTA - DEL C2orf29 ENST00000289382 human ensembl 70_37 +1 known frame_shift_del c.370_386 p.R124fs 1.000:1.000:0.999:1.000:1.000:1.000:1.000:1.000:0.839:1.000:1.000:0.977:1.000:1.000:1.000:1.000:1.000 NULL pfam_DUF2363 - no_errors C2orf29 HGNC C9 735 genome.wustl.edu 37 5 39308447 39308447 + Frame_Shift_Del DEL T T - TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 5 39308447 39308447 T - DEL C9 ENST00000263408 human ensembl 70_37 -1 known frame_shift_del c.1125 p.D376fs 0.002 pfam_MACPF,smart_MACPF pfam_MACPF,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt - no_errors C9 HGNC C9orf170 401535 genome.wustl.edu 37 9 89771629 89771629 + Missense_Mutation SNP A A G TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 9 89771629 89771629 A G SNP C9orf170 ENST00000375941 human ensembl 70_37 +1 known missense c.310 p.S104G 0.000 NULL NULL - no_errors C9orf170 HGNC CAMK2B 816 genome.wustl.edu 37 7 44283089 44283089 + Missense_Mutation SNP G G T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 7 44283089 44283089 G T SNP CAMK2B ENST00000395749 human ensembl 70_37 -1 known missense c.452 p.A151D 0.999 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CAMK2B HGNC CAMKK2 10645 genome.wustl.edu 37 12 121712313 121712313 + Missense_Mutation SNP G G C TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 12 121712313 121712313 G C SNP CAMKK2 ENST00000324774 human ensembl 70_37 -1 known missense c.17 p.S6C 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CAMKK2 HGNC CAPN12 147968 genome.wustl.edu 37 19 39232548 39232548 + Silent SNP G G C TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 19 39232548 39232548 G C SNP CAPN12 ENST00000328867 human ensembl 70_37 -1 known silent c.429 p.L143 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN12 HGNC CCDC108 255101 genome.wustl.edu 37 2 219892628 219892628 + Missense_Mutation SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 2 219892628 219892628 C T SNP CCDC108 ENST00000341552 human ensembl 70_37 -1 known missense c.1955 p.S652N 0.890 NULL superfamily_PapD-like,pfscan_Major_sperm - no_errors CCDC108 HGNC CD163L1 283316 genome.wustl.edu 37 12 7526002 7526002 + Missense_Mutation SNP G G A TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 12 7526002 7526002 G A SNP CD163L1 ENST00000313599 human ensembl 70_37 -1 known missense c.3644 p.T1215M 0.000 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt - no_errors CD163L1 HGNC CDH9 1007 genome.wustl.edu 37 5 26915832 26915832 + Silent SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 5 26915832 26915832 C T SNP CDH9 ENST00000231021 human ensembl 70_37 -1 known silent c.429 p.S143 0.927 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH9 HGNC CEBPZ 10153 genome.wustl.edu 37 2 37428918 37428919 + Frame_Shift_Ins INS - - T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 2 37428918 37428919 - T INS CEBPZ ENST00000234170 human ensembl 70_37 -1 known frame_shift_ins c.3154_3153 p.Q1051fs 0.990:0.984 NULL pfam_CCAAT-binding_factor,superfamily_ARM-type_fold - no_errors CEBPZ HGNC CGB1 114335 genome.wustl.edu 37 19 49539053 49539053 + Silent SNP C C A TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 19 49539053 49539053 C A SNP CGB1 ENST00000301407 human ensembl 70_37 -1 known silent c.282 p.V94 1.000 pfam_Cys_knot,smart_Gonadotropin_bsu pfam_Cys_knot,smart_Gonadotropin_bsu - no_errors CGB1 HGNC CNIH3 149111 genome.wustl.edu 37 1 224872537 224872537 + Missense_Mutation SNP C C G TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 1 224872537 224872537 C G SNP CNIH3 ENST00000272133 human ensembl 70_37 +1 known missense c.190 p.L64V 0.999 pfam_Cornichon pfam_Cornichon - no_errors CNIH3 HGNC CNTLN 54875 genome.wustl.edu 37 9 17309221 17309221 + Nonsense_Mutation SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 9 17309221 17309221 C T SNP CNTLN ENST00000380647 human ensembl 70_37 +1 known nonsense c.1312 p.Q438* 0.238 NULL superfamily_Prefoldin - no_errors CNTLN HGNC CRAMP1L 57585 genome.wustl.edu 37 16 1723911 1723911 + Missense_Mutation SNP G G T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 16 1723911 1723911 G T SNP CRAMP1L ENST00000293925 human ensembl 70_37 +1 known missense c.3675 p.M1225I 1.000 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors CRAMP1L HGNC CYB5R1 51706 genome.wustl.edu 37 1 202931828 202931828 + Splice_Site SNP C C G TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 1 202931828 202931828 C G SNP CYB5R1 ENST00000367249 human ensembl 70_37 -1 known splice_site c.746-1 e9-1 1.000 - - - no_errors CYB5R1 HGNC CYP2C19 1557 genome.wustl.edu 37 10 96580375 96580375 + Silent SNP G G A TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 10 96580375 96580375 G A SNP CYP2C19 ENST00000371321 human ensembl 70_37 +1 known silent c.942 p.L314 0.879 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2C19 HGNC DDIT4L 115265 genome.wustl.edu 37 4 101109298 101109298 + Missense_Mutation SNP G G A TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 4 101109298 101109298 G A SNP DDIT4L ENST00000273990 human ensembl 70_37 -1 known missense c.118 p.P40S 1.000 NULL pfam_RTP801-like - no_errors DDIT4L HGNC DDX52 11056 genome.wustl.edu 37 17 36002173 36002173 + Missense_Mutation SNP C C G TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 17 36002173 36002173 C G SNP DDX52 ENST00000349699 human ensembl 70_37 -1 known missense c.252 p.E84D 0.001 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX52 HGNC DEFB113 245927 genome.wustl.edu 37 6 49936402 49936402 + Silent SNP G G T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 6 49936402 49936402 G T SNP DEFB113 ENST00000398718 human ensembl 70_37 -1 known silent c.237 p.L79 0.000 NULL NULL - no_errors DEFB113 HGNC DNAH3 55567 genome.wustl.edu 37 16 20976329 20976329 + Silent SNP G G A TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 16 20976329 20976329 G A SNP DNAH3 ENST00000261383 human ensembl 70_37 -1 known silent c.8877 p.I2959 0.895 superfamily_Prefoldin pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC DNAH3 55567 genome.wustl.edu 37 16 21139040 21139040 + Missense_Mutation SNP G G T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 16 21139040 21139040 G T SNP DNAH3 ENST00000261383 human ensembl 70_37 -1 known missense c.1176 p.H392Q 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC DNM1P46 196968 genome.wustl.edu 37 15 100330967 100330968 + RNA INS - - AC TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 15 100330967 100330968 - AC INS DNM1P46 ENST00000341853 human ensembl 70_37 -1 known rna NULL NULL 0.006:0.008 - - - no_errors DNM1P46 HGNC DTX4 23220 genome.wustl.edu 37 11 58956669 58956669 + Silent SNP G G A TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 11 58956669 58956669 G A SNP DTX4 ENST00000227451 human ensembl 70_37 +1 known silent c.1032 p.L344 1.000 NULL pfam_WWE-dom,pfam_Znf_C3HC4_RING-type,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX4 HGNC E2F7 144455 genome.wustl.edu 37 12 77436899 77436899 + Nonsense_Mutation SNP G G A TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 12 77436899 77436899 G A SNP E2F7 ENST00000322886 human ensembl 70_37 -1 known nonsense c.1069 p.R357* 0.996 pfam_E2F_TDP pfam_E2F_TDP - no_errors E2F7 HGNC ENSG00000183657 0 genome.wustl.edu 37 3 171510212 171510212 + Silent SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 3 171510212 171510212 C T SNP ENSG00000183657 ENST00000331659 human ensembl 70_37 -1 known silent c.387 p.Q129 0.003 NULL NULL - no_errors PP13439 Uniprot_genename ENSG00000259060 0 genome.wustl.edu 37 14 21052653 21052653 + RNA SNP C C G TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 14 21052653 21052653 C G SNP ENSG00000259060 ENST00000555283 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AL163195.3 Clone_based_vega_gene ENSG00000259660 0 genome.wustl.edu 37 15 102304772 102304772 + RNA SNP T T C TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 15 102304772 102304772 T C SNP ENSG00000259660 ENST00000561463 human ensembl 70_37 +1 known rna NULL NULL 0.984 - - - no_errors CTD-2611K5.6 Clone_based_vega_gene ENSG00000259660 0 genome.wustl.edu 37 15 102304941 102304941 + RNA SNP A A G TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 15 102304941 102304941 A G SNP ENSG00000259660 ENST00000561463 human ensembl 70_37 +1 known rna NULL NULL 0.989 - - - no_errors CTD-2611K5.6 Clone_based_vega_gene ENSG00000260628 0 genome.wustl.edu 37 16 31993369 31993371 + RNA DEL CTC CTC - TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 16 31993369 31993371 CTC - DEL ENSG00000260628 ENST00000568570 human ensembl 70_37 +1 known rna NULL NULL 1.000:1.000:1.000 - - - no_errors RP11-1166P10.1 Clone_based_vega_gene ENSG00000263544 0 genome.wustl.edu 37 GL000220.1 118253 118253 + RNA SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 GL000220.1 118253 118253 C T SNP ENSG00000263544 ENST00000582153 human ensembl 70_37 +1 known rna NULL NULL NULL - - - no_errors AL592188.3 Clone_based_ensembl_gene ENSG00000267892 0 genome.wustl.edu 37 19 39229440 39229440 + RNA SNP G G C TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 19 39229440 39229440 G C SNP ENSG00000267892 ENST00000602255 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors CTD-2540F13.2 Clone_based_vega_gene ENTPD4 9583 genome.wustl.edu 37 8 23294733 23294733 + Missense_Mutation SNP G G A TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 8 23294733 23294733 G A SNP ENTPD4 ENST00000358689 human ensembl 70_37 -1 known missense c.1088 p.P363L 0.999 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD4 HGNC EPHB4 2050 genome.wustl.edu 37 7 100401197 100401197 + Silent SNP G G A TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 7 100401197 100401197 G A SNP EPHB4 ENST00000358173 human ensembl 70_37 -1 known silent c.2850 p.I950 0.984 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_SAM pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHB4 HGNC ERBB4 2066 genome.wustl.edu 37 2 212248368 212248368 + Missense_Mutation SNP G G A TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 2 212248368 212248368 G A SNP ERBB4 ENST00000342788 human ensembl 70_37 -1 known missense c.3899 p.P1300L 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ERBB4 HGNC EVX1-AS 101410536 genome.wustl.edu 37 7 27282233 27282233 + RNA SNP C C G TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 7 27282233 27282233 C G SNP EVX1-AS ENST00000519050 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors EVX1-AS HGNC EXOC3 11336 genome.wustl.edu 37 5 446336 446336 + Missense_Mutation SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 5 446336 446336 C T SNP EXOC3 ENST00000315013 human ensembl 70_37 +1 known missense c.16 p.R6W 1.000 NULL pfam_Sec6 - no_errors EXOC3 HGNC FAF1 11124 genome.wustl.edu 37 1 51032844 51032844 + Nonsense_Mutation SNP G G T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 1 51032844 51032844 G T SNP FAF1 ENST00000371778 human ensembl 70_37 -1 known nonsense c.1173 p.C391* 1.000 smart_UAS pfam_UBX,superfamily_UBA-like,smart_UAS,smart_UBX,pfscan_UBX - no_errors FAF1 HGNC FAM46A 55603 genome.wustl.edu 37 6 82459782 82459782 + Missense_Mutation SNP G G A TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 6 82459782 82459782 G A SNP FAM46A ENST00000369756 human ensembl 70_37 -1 known missense c.1202 p.S401F 1.000 pfam_DUF1693 pfam_DUF1693 - no_errors FAM46A HGNC FAM69A 388650 genome.wustl.edu 37 1 93309452 93309452 + Nonsense_Mutation SNP G G A TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 1 93309452 93309452 G A SNP FAM69A ENST00000370310 human ensembl 70_37 -1 known nonsense c.775 p.Q259* 1.000 pfam_Uncharacterised_FAM69 pfam_Uncharacterised_FAM69 - no_errors FAM69A HGNC FAM92A1 137392 genome.wustl.edu 37 8 94740501 94740503 + In_Frame_Del DEL AGA AGA - TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 8 94740501 94740503 AGA - DEL FAM92A1 ENST00000518322 human ensembl 70_37 +1 known in_frame_del c.846_848 p.E285in_frame_del 1.000:1.000:1.000 NULL pfam_FAM92 - no_errors FAM92A1 HGNC FBXW7 55294 genome.wustl.edu 37 4 153249384 153249384 + Missense_Mutation SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 4 153249384 153249384 C T SNP FBXW7 ENST00000281708 human ensembl 70_37 -1 known missense c.1394 p.R465H 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC GAP43 2596 genome.wustl.edu 37 3 115395319 115395319 + Missense_Mutation SNP G G A TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 3 115395319 115395319 G A SNP GAP43 ENST00000305124 human ensembl 70_37 +1 known missense c.490 p.E164K 1.000 pfam_Neuromodulin_C pfam_Neuromodulin_C,pfam_Neuromodulin_gap-junction_N,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Neuromodulin - no_errors GAP43 HGNC GNAI3 2773 genome.wustl.edu 37 1 110128893 110128893 + Missense_Mutation SNP G G A TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 1 110128893 110128893 G A SNP GNAI3 ENST00000369851 human ensembl 70_37 +1 known missense c.646 p.E216K 1.000 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I,prints_Fungi_GproteinA - no_errors GNAI3 HGNC GPR98 84059 genome.wustl.edu 37 5 89943530 89943530 + Missense_Mutation SNP G G T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 5 89943530 89943530 G T SNP GPR98 ENST00000405460 human ensembl 70_37 +1 known missense c.3238 p.G1080C 1.000 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC HDHD1 8226 genome.wustl.edu 37 X 7023797 7023797 + Silent SNP C C G TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 X 7023797 7023797 C G SNP HDHD1 ENST00000424830 human ensembl 70_37 -1 known silent c.213 p.L71 0.011 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IA_v3 - no_errors HDHD1 HGNC HERC2 8924 genome.wustl.edu 37 15 28422657 28422657 + Splice_Site SNP T T C TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 15 28422657 28422657 T C SNP HERC2 ENST00000261609 human ensembl 70_37 -1 known splice_site c.9164-2 e59-2 1.000 - - - no_errors HERC2 HGNC HILPDA 29923 genome.wustl.edu 37 7 128097963 128097964 + RNA INS - - A TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 7 128097963 128097964 - A INS HILPDA ENST00000466473 human ensembl 70_37 +1 known rna NULL NULL 0.010:0.015 - - - no_errors HILPDA HGNC HIST1H4E 8367 genome.wustl.edu 37 6 26205150 26205150 + Missense_Mutation SNP G G C TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 6 26205150 26205150 G C SNP HIST1H4E ENST00000360441 human ensembl 70_37 +1 known missense c.278 p.R93T 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_TAF_TATA-bd,prints_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4E HGNC HTR2B 3357 genome.wustl.edu 37 2 231973557 231973557 + Missense_Mutation SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 2 231973557 231973557 C T SNP HTR2B ENST00000258400 human ensembl 70_37 -1 known missense c.1120 p.G374R 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_5HT2B_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR2B HGNC ICA1L 130026 genome.wustl.edu 37 2 203651476 203651476 + Frame_Shift_Del DEL T T - TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 2 203651476 203651476 T - DEL ICA1L ENST00000438804 human ensembl 70_37 -1 known frame_shift_del c.1266 p.K422fs 0.002 pfam_Islet_autoAg_Ica1_C pfam_Arfaptin_homology_dom,pfam_Islet_autoAg_Ica1_C,pfscan_Arfaptin_homology_dom - no_errors ICA1L HGNC IRX4 50805 genome.wustl.edu 37 5 1879705 1879705 + Missense_Mutation SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 5 1879705 1879705 C T SNP IRX4 ENST00000231357 human ensembl 70_37 -1 known missense c.649 p.E217K 0.998 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_Iroquois_homeo,pfscan_Homeodomain - no_errors IRX4 HGNC JMY 133746 genome.wustl.edu 37 5 78610439 78610439 + Silent SNP T T G TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 5 78610439 78610439 T G SNP JMY ENST00000396137 human ensembl 70_37 +1 known silent c.2424 p.P808 0.178 NULL pfscan_WH2_dom - no_errors JMY HGNC KCNH7 90134 genome.wustl.edu 37 2 163693182 163693182 + Missense_Mutation SNP C C G TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 2 163693182 163693182 C G SNP KCNH7 ENST00000332142 human ensembl 70_37 -1 known missense c.172 p.D58H 1.000 pfam_PAS_fold_3,tigrfam_PAS pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,tigrfam_PAS - no_errors KCNH7 HGNC KIAA0947 23379 genome.wustl.edu 37 5 5462874 5462874 + Missense_Mutation SNP G G C TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 5 5462874 5462874 G C SNP KIAA0947 ENST00000296564 human ensembl 70_37 +1 known missense c.3427 p.V1143L 0.000 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC KIAA1804 84451 genome.wustl.edu 37 1 233518245 233518245 + Nonsense_Mutation SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 1 233518245 233518245 C T SNP KIAA1804 ENST00000366624 human ensembl 70_37 +1 known nonsense c.2899 p.Q967* 0.000 pirsf_MAPKKK9/10/11 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom - no_errors MLK4 Uniprot_genename KIF1B 23095 genome.wustl.edu 37 1 10384953 10384953 + Missense_Mutation SNP G G T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 1 10384953 10384953 G T SNP KIF1B ENST00000263934 human ensembl 70_37 +1 known missense c.2537 p.S846I 1.000 pfam_KIF1B pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1B HGNC KIF21B 23046 genome.wustl.edu 37 1 200942677 200942677 + Missense_Mutation SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 1 200942677 200942677 C T SNP KIF21B ENST00000461742 human ensembl 70_37 -1 putative missense c.4844 p.R1615Q 0.996 pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21B HGNC KIFAP3 22920 genome.wustl.edu 37 1 170001164 170001165 + RNA INS - - A TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 1 170001164 170001165 - A INS KIFAP3 ENST00000474292 human ensembl 70_37 -1 putative rna NULL NULL 0.000:0.049 - - - no_errors KIFAP3 HGNC KLHL12 59349 genome.wustl.edu 37 1 202897624 202897624 + Missense_Mutation SNP G G T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 1 202897624 202897624 G T SNP KLHL12 ENST00000435533 human ensembl 70_37 -1 known missense c.54 p.F18L 0.001 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL12 HGNC KLHL38 340359 genome.wustl.edu 37 8 124664263 124664263 + Missense_Mutation SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 8 124664263 124664263 C T SNP KLHL38 ENST00000325995 human ensembl 70_37 -1 known missense c.904 p.V302I 0.998 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL38 HGNC LGI1 9211 genome.wustl.edu 37 10 95518033 95518033 + Silent SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 10 95518033 95518033 C T SNP LGI1 ENST00000371418 human ensembl 70_37 +1 known silent c.132 p.A44 0.991 NULL pfam_EPTP,pfam_Leu-rich_rpt,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR - no_errors LGI1 HGNC LIPH 200879 genome.wustl.edu 37 3 185252608 185252608 + Missense_Mutation SNP G G C TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 3 185252608 185252608 G C SNP LIPH ENST00000296252 human ensembl 70_37 -1 known missense c.362 p.S121C 0.603 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase - no_errors LIPH HGNC LOC440518 440518 genome.wustl.edu 37 19 22786023 22786023 + RNA SNP C C G TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 19 22786023 22786023 C G SNP LOC440518 ENST00000600260 human ensembl 70_37 +1 known rna NULL NULL 0.338 - - - no_errors CTC-457E21.3 Clone_based_vega_gene LOC642633 642633 genome.wustl.edu 37 22 21538466 21538466 + RNA SNP C C G TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 22 21538466 21538466 C G SNP LOC642633 ENST00000451257 human ensembl 70_37 +1 known rna NULL NULL 0.035 - - - no_errors KB-1183D5.11 Clone_based_vega_gene MAP4K5 11183 genome.wustl.edu 37 14 50907112 50907112 + Missense_Mutation SNP G G A TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 14 50907112 50907112 G A SNP MAP4K5 ENST00000013125 human ensembl 70_37 -1 known missense c.1612 p.L538F 1.000 pfam_Citron,smart_Citron pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors MAP4K5 HGNC MEP1A 4224 genome.wustl.edu 37 6 46793205 46793205 + Missense_Mutation SNP G G C TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 6 46793205 46793205 G C SNP MEP1A ENST00000230588 human ensembl 70_37 +1 known missense c.753 p.E251D 0.808 pfam_Peptidase_M12A,pirsf_Pept_M12A_Meprin,prints_Peptidase_M12A pfam_Peptidase_M12A,pfam_MATH,pfam_MAM_dom,pfam_EG-like_dom,superfamily_TRAF-like,superfamily_ConA-like_lec_gl_sf,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,pirsf_Pept_M12A_Meprin,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom - no_errors MEP1A HGNC KMT2A 4297 genome.wustl.edu 37 11 118390460 118390461 + Frame_Shift_Ins INS - - C TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 11 118390460 118390461 - C INS MLL ENST00000389506 human ensembl 70_37 +1 known frame_shift_ins c.11265_11266 p.N3758fs 0.991:1.000 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors MLL HGNC MYH15 22989 genome.wustl.edu 37 3 108159942 108159942 + Missense_Mutation SNP C C G TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 3 108159942 108159942 C G SNP MYH15 ENST00000273353 human ensembl 70_37 -1 known missense c.2881 p.E961Q 1.000 superfamily_Prefoldin pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYH15 HGNC NCF2 4688 genome.wustl.edu 37 1 183536404 183536404 + Missense_Mutation SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 1 183536404 183536404 C T SNP NCF2 ENST00000367535 human ensembl 70_37 -1 known missense c.790 p.G264R 0.999 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox pfam_SH3_domain,pfam_SH3_2,pfam_TPR-1,pfam_OPR_PB1,superfamily_SH3_domain,smart_TPR_repeat,smart_SH3_domain,smart_OPR_PB1,pfscan_SH3_domain,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_p67phox,prints_SH3_domain - no_errors NCF2 HGNC NMT2 9397 genome.wustl.edu 37 10 15151806 15151806 + Missense_Mutation SNP C C G TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 10 15151806 15151806 C G SNP NMT2 ENST00000378143 human ensembl 70_37 -1 known missense c.1464 p.L488F 1.000 pfam_MyristoylCoA_TrFase_C,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase - no_errors NMT2 HGNC NOVA1 4857 genome.wustl.edu 37 14 26918010 26918011 + Frame_Shift_Del DEL GT GT - TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 14 26918010 26918011 GT - DEL NOVA1 ENST00000539517 human ensembl 70_37 -1 known frame_shift_del c.679_678 p.E226fs 1.000:1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors NOVA1 HGNC NOVA1 4857 genome.wustl.edu 37 14 26918012 26918013 + Frame_Shift_Ins INS - - GACAACC TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 14 26918012 26918013 - GACAACC INS NOVA1 ENST00000539517 human ensembl 70_37 -1 known frame_shift_ins c.677_676 p.E226fs 1.000:1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors NOVA1 HGNC NOVA1 4857 genome.wustl.edu 37 14 26918015 26918015 + Frame_Shift_Del DEL C C - TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 14 26918015 26918015 C - DEL NOVA1 ENST00000539517 human ensembl 70_37 -1 known frame_shift_del c.674 p.G225fs 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors NOVA1 HGNC NPIPA1 9284 genome.wustl.edu 37 16 15045687 15045687 + Silent SNP C C G TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 16 15045687 15045687 C G SNP NPIP ENST00000328085 human ensembl 70_37 +1 novel silent c.858 p.L286 0.077 pfam_NPIP pfam_NPIP - no_errors NPIP HGNC NUP98 4928 genome.wustl.edu 37 11 3740736 3740736 + Missense_Mutation SNP G G C TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 11 3740736 3740736 G C SNP NUP98 ENST00000324932 human ensembl 70_37 -1 known missense c.2305 p.L769V 1.000 pfam_Peptidase_S59,superfamily_Peptidase_S59 pfam_Nup96,pfam_Peptidase_S59,superfamily_Peptidase_S59 - no_errors NUP98 HGNC OR6C1 390321 genome.wustl.edu 37 12 55714417 55714417 + Missense_Mutation SNP C C G TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 12 55714417 55714417 C G SNP OR6C1 ENST00000379668 human ensembl 70_37 +1 known missense c.34 p.L12V 0.909 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C1 HGNC ORC6 23594 genome.wustl.edu 37 16 46723632 46723632 + Silent SNP G G C TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 16 46723632 46723632 G C SNP ORC6 ENST00000219097 human ensembl 70_37 +1 known silent c.15 p.L5 0.000 NULL pfam_ORC6 - no_errors ORC6 HGNC PDGFRB 5159 genome.wustl.edu 37 5 149515391 149515391 + Missense_Mutation SNP G G C TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 5 149515391 149515391 G C SNP PDGFRB ENST00000261799 human ensembl 70_37 -1 known missense c.91 p.Q31E 0.004 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Ig-like pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors PDGFRB HGNC PDZK1 5174 genome.wustl.edu 37 1 145747058 145747058 + Silent SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 1 145747058 145747058 C T SNP PDZK1 ENST00000344770 human ensembl 70_37 +1 known silent c.15 p.F5 0.832 superfamily_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZK1 HGNC PLCE1 51196 genome.wustl.edu 37 10 96043642 96043642 + Missense_Mutation SNP G G C TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 10 96043642 96043642 G C SNP PLCE1 ENST00000371380 human ensembl 70_37 +1 known missense c.4891 p.D1631H 1.000 superfamily_PLC-like_Pdiesterase_TIM-brl pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,smart_Ras-assoc,pfscan_C2_membr_targeting,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC PLK5 126520 genome.wustl.edu 37 19 1529760 1529760 + Missense_Mutation SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 19 1529760 1529760 C T SNP PLK5 ENST00000334770 human ensembl 70_37 +1 known missense c.505 p.R169W 0.005 NULL superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom - no_errors PLK5 HGNC POU6F2 11281 genome.wustl.edu 37 7 39446223 39446223 + Nonsense_Mutation SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 7 39446223 39446223 C T SNP POU6F2 ENST00000403058 human ensembl 70_37 +1 known nonsense c.910 p.Q304* 1.000 NULL pfam_POU_specific,pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU - no_errors POU6F2 HGNC PPAP2B 8613 genome.wustl.edu 37 1 57002687 57002687 + Silent SNP A A G TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 1 57002687 57002687 A G SNP PPAP2B ENST00000371250 human ensembl 70_37 -1 known silent c.237 p.T79 0.000 superfamily_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors PPAP2B HGNC PPAPDC2 403313 genome.wustl.edu 37 9 4663041 4663041 + Silent SNP G G C TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 9 4663041 4663041 G C SNP PPAPDC2 ENST00000381883 human ensembl 70_37 +1 known silent c.666 p.S222 0.003 pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors PPAPDC2 HGNC PRDM16 63976 genome.wustl.edu 37 1 3328829 3328829 + Missense_Mutation SNP G G A TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 1 3328829 3328829 G A SNP PRDM16 ENST00000270722 human ensembl 70_37 +1 known missense c.2068 p.G690R 0.776 NULL pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM16 HGNC PRKRIP1 79706 genome.wustl.edu 37 7 102004775 102004775 + RNA SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 7 102004775 102004775 C T SNP PRKRIP1 ENST00000469763 human ensembl 70_37 +1 known rna NULL NULL 0.143 - - - no_errors PRKRIP1 HGNC PRPF4 9128 genome.wustl.edu 37 9 116039003 116039003 + Missense_Mutation SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 9 116039003 116039003 C T SNP PRPF4 ENST00000374198 human ensembl 70_37 +1 known missense c.206 p.S69F 1.000 NULL pfam_WD40_repeat,pfam_PRP4,superfamily_WD40_repeat_dom,smart_SFM,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PRPF4 HGNC PTPDC1 138639 genome.wustl.edu 37 9 96850123 96850123 + Missense_Mutation SNP A A G TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 9 96850123 96850123 A G SNP PTPDC1 ENST00000375360 human ensembl 70_37 +1 known missense c.265 p.N89D 0.002 smart_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase - no_errors PTPDC1 HGNC RELN 5649 genome.wustl.edu 37 7 103143563 103143563 + Missense_Mutation SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 7 103143563 103143563 C T SNP RELN ENST00000424685 human ensembl 70_37 -1 known missense c.8389 p.D2797N 0.999 superfamily_Neuraminidase pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Neuraminidase,superfamily_Growth_fac_rcpt,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC RELN 5649 genome.wustl.edu 37 7 103270624 103270624 + Splice_Site SNP C C G TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 7 103270624 103270624 C G SNP RELN ENST00000424685 human ensembl 70_37 -1 known splice_site c.2466-1 e20-1 1.000 - - - no_errors RELN HGNC REPS1 85021 genome.wustl.edu 37 6 139265136 139265136 + Missense_Mutation SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 6 139265136 139265136 C T SNP REPS1 ENST00000450536 human ensembl 70_37 -1 known missense c.770 p.R257Q 1.000 NULL smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology - no_errors REPS1 HGNC RHD 6007 genome.wustl.edu 37 1 25633204 25633204 + Missense_Mutation SNP G G A TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 1 25633204 25633204 G A SNP RHD ENST00000328664 human ensembl 70_37 +1 known missense c.1057 p.G353R 0.000 pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD - no_errors RHD HGNC RIMBP3 85376 genome.wustl.edu 37 22 20457501 20457501 + Silent SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 22 20457501 20457501 C T SNP RIMBP3 ENST00000426804 human ensembl 70_37 -1 known silent c.3801 p.P1267 0.000 NULL pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,pfscan_SH3_domain - no_errors RIMBP3 HGNC RNASE11 122651 genome.wustl.edu 37 14 21052552 21052552 + Missense_Mutation SNP C C G TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 14 21052552 21052552 C G SNP RNASE11 ENST00000335950 human ensembl 70_37 -1 known missense c.82 p.E28Q 0.935 NULL pfam_RNaseA_domain,superfamily_RNaseA_domain - no_errors RNASE11 HGNC RNF208 727800 genome.wustl.edu 37 9 140114971 140114971 + Missense_Mutation SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 9 140114971 140114971 C T SNP RNF208 ENST00000391553 human ensembl 70_37 -1 known missense c.694 p.E232K 0.996 NULL pfscan_Znf_RING - no_errors RNF208 HGNC SBNO1 55206 genome.wustl.edu 37 12 123782609 123782609 + Missense_Mutation SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 12 123782609 123782609 C T SNP SBNO1 ENST00000420886 human ensembl 70_37 -1 known missense c.3955 p.E1319K 1.000 NULL pfam_Helicase/UvrB_dom,superfamily_Prismane-like - no_errors SBNO1 HGNC SEZ6L 23544 genome.wustl.edu 37 22 26707735 26707735 + Silent SNP G G A TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 22 26707735 26707735 G A SNP SEZ6L ENST00000248933 human ensembl 70_37 +1 known silent c.1683 p.A561 0.682 superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors SEZ6L HGNC SHKBP1 92799 genome.wustl.edu 37 19 41083468 41083468 + Missense_Mutation SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 19 41083468 41083468 C T SNP SHKBP1 ENST00000595523 human ensembl 70_37 +1 known missense c.20 p.S7L 1.000 NULL NULL - no_errors SHKBP1 HGNC SLC15A2 6565 genome.wustl.edu 37 3 121646562 121646562 + RNA SNP G G A TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 3 121646562 121646562 G A SNP SLC15A2 ENST00000489957 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors SLC15A2 HGNC SLC17A6 57084 genome.wustl.edu 37 11 22363305 22363305 + Silent SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 11 22363305 22363305 C T SNP SLC17A6 ENST00000263160 human ensembl 70_37 +1 known silent c.318 p.R106 0.636 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A6 HGNC SLC5A11 115584 genome.wustl.edu 37 16 24895396 24895396 + Missense_Mutation SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 16 24895396 24895396 C T SNP SLC5A11 ENST00000347898 human ensembl 70_37 +1 known missense c.608 p.T203M 1.000 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A11 HGNC SLITRK1 114798 genome.wustl.edu 37 13 84453964 84453964 + Missense_Mutation SNP G G A TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 13 84453964 84453964 G A SNP SLITRK1 ENST00000377084 human ensembl 70_37 -1 known missense c.1679 p.T560M 1.000 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC SNAP91 9892 genome.wustl.edu 37 6 84317425 84317425 + Missense_Mutation SNP G G A TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 6 84317425 84317425 G A SNP SNAP91 ENST00000369694 human ensembl 70_37 -1 known missense c.1015 p.P339S 1.000 NULL pfam_ANTH,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors SNAP91 HGNC SPATA6L 55064 genome.wustl.edu 37 9 4661977 4661977 + Silent SNP G G C TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 9 4661977 4661977 G C SNP SPATA6L ENST00000454239 human ensembl 70_37 -1 known silent c.99 p.L33 0.995 NULL NULL - no_errors SPATA6L HGNC SPATA6L 55064 genome.wustl.edu 37 9 4661989 4661989 + Silent SNP G G A TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 9 4661989 4661989 G A SNP SPATA6L ENST00000454239 human ensembl 70_37 -1 known silent c.87 p.L29 0.545 NULL NULL - no_errors SPATA6L HGNC SPTAN1 6709 genome.wustl.edu 37 9 131386727 131386727 + Nonsense_Mutation SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 9 131386727 131386727 C T SNP SPTAN1 ENST00000358161 human ensembl 70_37 +1 known nonsense c.5953 p.Q1985* 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors SPTAN1 HGNC SQSTM1 8878 genome.wustl.edu 37 5 179260716 179260716 + Missense_Mutation SNP C C G TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 5 179260716 179260716 C G SNP SQSTM1 ENST00000389805 human ensembl 70_37 +1 known missense c.1099 p.L367V 0.037 NULL pfam_Znf_ZZ,pfam_OPR_PB1,superfamily_UBA-like,smart_OPR_PB1,smart_Znf_ZZ,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_ZZ - no_errors SQSTM1 HGNC SUSD1 64420 genome.wustl.edu 37 9 114904663 114904663 + Missense_Mutation SNP C C G TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 9 114904663 114904663 C G SNP SUSD1 ENST00000374264 human ensembl 70_37 -1 known missense c.643 p.E215Q 0.001 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_EGF-like_Ca-bd,pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP - no_errors SUSD1 HGNC SV2A 9900 genome.wustl.edu 37 1 149877557 149877557 + Silent SNP G G A TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 1 149877557 149877557 G A SNP SV2A ENST00000369146 human ensembl 70_37 -1 known silent c.1920 p.F640 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata - no_errors SV2A HGNC TADA1 117143 genome.wustl.edu 37 1 166833160 166833160 + Splice_Site SNP T T A TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 1 166833160 166833160 T A SNP TADA1 ENST00000367874 human ensembl 70_37 -1 known splice_site c.233-2 e4-2 0.991 - - - no_errors TADA1 HGNC TGFBR2 7048 genome.wustl.edu 37 3 30691871 30691872 + Frame_Shift_Ins INS - - A TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 3 30691871 30691872 - A INS TGFBR2 ENST00000359013 human ensembl 70_37 +1 known frame_shift_ins c.448_449 p.K154fs 1.000:1.000 pfam_Transforming_GF_b_rcpt_2_ecto,pirsf_Transform_growth_fac-b_typ-2,prints_Activin_II/TGFBeta-II_recpt pfam_Transforming_GF_b_rcpt_2_ecto,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Transform_growth_fac-b_typ-2,prints_Activin_II/TGFBeta-II_recpt,pfscan_Prot_kinase_cat_dom - no_errors TGFBR2 HGNC TRIM50 135892 genome.wustl.edu 37 7 72732856 72732856 + Nonsense_Mutation SNP G G A TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 7 72732856 72732856 G A SNP TRIM50 ENST00000333149 human ensembl 70_37 -1 known nonsense c.691 p.Q231* 0.963 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM50 HGNC U2SURP 23350 genome.wustl.edu 37 3 142731178 142731178 + Missense_Mutation SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 3 142731178 142731178 C T SNP U2SURP ENST00000319822 human ensembl 70_37 +1 known missense c.205 p.H69Y 1.000 NULL pfam_Surp,pfam_RRM_dom,superfamily_Surp,superfamily_ENTH_VHS,smart_RRM_dom,smart_Surp,smart_RNA_polymerase_II_lsu_CTD,pfscan_Surp,pfscan_RRM_dom - no_errors U2SURP HGNC UBE2Q2 92912 genome.wustl.edu 37 15 76136660 76136660 + RNA SNP T T C TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 15 76136660 76136660 T C SNP UBE2Q2 ENST00000562635 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors UBE2Q2 HGNC UGT1A10 54575 genome.wustl.edu 37 2 234545342 234545342 + Silent SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 2 234545342 234545342 C T SNP UGT1A10 ENST00000344644 human ensembl 70_37 +1 known silent c.174 p.V58 0.007 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A10 HGNC WBSCR17 64409 genome.wustl.edu 37 7 70597904 70597904 + Missense_Mutation SNP T T G TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 7 70597904 70597904 T G SNP WBSCR17 ENST00000333538 human ensembl 70_37 +1 known missense c.116 p.F39C 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors WBSCR17 HGNC ZBTB41 360023 genome.wustl.edu 37 1 197169636 197169636 + RNA SNP A A G TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 1 197169636 197169636 A G SNP ZBTB41 ENST00000467322 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ZBTB41 HGNC ZFC3H1 196441 genome.wustl.edu 37 12 72030728 72030728 + Missense_Mutation SNP G G C TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 12 72030728 72030728 G C SNP ZFC3H1 ENST00000378743 human ensembl 70_37 -1 known missense c.1837 p.P613A 1.000 NULL pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom - no_errors ZFC3H1 HGNC ZNF101 94039 genome.wustl.edu 37 19 19790321 19790321 + Missense_Mutation SNP G G A TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 19 19790321 19790321 G A SNP ZNF101 ENST00000318110 human ensembl 70_37 +1 known missense c.523 p.G175R 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF101 HGNC ZSCAN32 54925 genome.wustl.edu 37 16 3433692 3433692 + Missense_Mutation SNP C C G TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 16 3433692 3433692 C G SNP ZNF434 ENST00000396846 human ensembl 70_37 -1 known missense c.1254 p.E418D 0.012 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF434 HGNC ZNF446 55663 genome.wustl.edu 37 19 58989542 58989542 + Silent SNP G G A TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 19 58989542 58989542 G A SNP ZNF446 ENST00000594369 human ensembl 70_37 +1 known silent c.621 p.R207 0.998 NULL pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF446 HGNC ZNF776 284309 genome.wustl.edu 37 19 58258211 58258212 + RNA INS - - T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 19 58258211 58258212 - T INS ZNF776 ENST00000473585 human ensembl 70_37 +1 putative rna NULL NULL 0.000:0.000 - - - no_errors ZNF776 HGNC ZWINT 11130 genome.wustl.edu 37 10 58118352 58118352 + Missense_Mutation SNP C C T TCGA-FU-A5XV-01A-11D-A28B-09 TCGA-FU-A5XV-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e00f794-d9ca-41a6-9326-27f8b2ece8ba 9c23cb7c-3414-47a2-85ab-896140b04a43 10 58118352 58118352 C T SNP ZWINT ENST00000373944 human ensembl 70_37 -1 known missense c.757 p.D253N 0.000 NULL NULL - no_errors ZWINT HGNC