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 ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF OR6K3 0 genome.wustl.edu 37 1 158687897 158687897 + Silent SNP G G A TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 1 158687897 158687897 G A SNP OR6K3 ENST00000368146 human ensembl 74_37 -1 known silent c.57 p.S19 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6K3 HGNC ENSG00000203757 72 0 0 63 6 8.69565 IFI16 0 genome.wustl.edu 37 1 158986419 158986419 + Missense_Mutation SNP T T A TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 1 158986419 158986419 T A SNP IFI16 ENST00000295809 human ensembl 74_37 +1 known missense c.478 p.S160T 0.000 NULL pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors IFI16 HGNC ENSG00000163565 39 0 0 105 10 8.69565 CROCCP2 0 genome.wustl.edu 37 1 16946407 16946407 + RNA SNP T T G TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 1 16946407 16946407 T G SNP CROCCP2 ENST00000412962 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CROCCP2 HGNC ENSG00000215908 9 0 0 27 8 22.8571 DHX9 0 genome.wustl.edu 37 1 182847239 182847239 + Missense_Mutation SNP G G A TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 1 182847239 182847239 G A SNP DHX9 ENST00000367549 human ensembl 74_37 +1 known missense c.2282 p.R761Q 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_dsRNA-bd_dom,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_dsRNA-bd_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_dsRNA-bd_dom - no_errors DHX9 HGNC ENSG00000135829 56 0 0 60 8 11.7647 ADORA1 0 genome.wustl.edu 37 1 203134713 203134713 + Silent SNP G G A TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 1 203134713 203134713 G A SNP ADORA1 ENST00000309502 human ensembl 74_37 +1 known silent c.666 p.P222 0.997 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adeno_A1_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adenosn_rcpt,prints_GPCR_Rhodpsn,prints_Adeno_A1_rcpt - no_errors ADORA1 HGNC ENSG00000163485 78 0 0 99 17 14.6552 CENPF 0 genome.wustl.edu 37 1 214792522 214792522 + Nonsense_Mutation SNP C C T TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 1 214792522 214792522 C T SNP CENPF ENST00000366955 human ensembl 74_37 +1 known nonsense c.532 p.R178* 1.000 pfam_Centromere_CenpF_N pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 24 0 0 21 15 41.6667 ENAH 0 genome.wustl.edu 37 1 225707053 225707053 + Missense_Mutation SNP C C T TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 1 225707053 225707053 C T SNP ENAH ENST00000366844 human ensembl 74_37 -1 known missense c.649 p.E217K 0.932 NULL pfam_WH1/EVH1,pfam_VASP_tetra,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors ENAH HGNC ENSG00000154380 72 0 0 102 11 9.73451 OBSCN 0 genome.wustl.edu 37 1 228548256 228548256 + Missense_Mutation SNP C C T TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 1 228548256 228548256 C T SNP OBSCN ENST00000366709 human ensembl 74_37 +1 known missense c.11020 p.R3674W 0.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_DH-domain,pfam_Fibronectin_type3,pfam_IQ_motif_EF-hand-BS,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 19 0 0 36 2 5.26316 RYR2 0 genome.wustl.edu 37 1 237797008 237797008 + Missense_Mutation SNP T T C TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 1 237797008 237797008 T C SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.6680 p.L2227P 1.000 pfam_Ca-rel_channel pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 72 0 0 45 23 33.8235 POMGNT1 0 genome.wustl.edu 37 1 46657809 46657809 + Missense_Mutation SNP G G T TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 1 46657809 46657809 G T SNP POMGNT1 ENST00000371986 human ensembl 74_37 -1 known missense c.1500 p.H500Q 1.000 pfam_Glyco_trans_13 pfam_Glyco_trans_13 - no_errors POMGNT1 HGNC ENSG00000085998 59 0 0 58 8 12.1212 SLC18A2 0 genome.wustl.edu 37 10 119014801 119014801 + Silent SNP C C T TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 10 119014801 119014801 C T SNP SLC18A2 ENST00000298472 human ensembl 74_37 +1 known silent c.714 p.F238 0.702 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC18A2 HGNC ENSG00000165646 48 0 0 47 15 24.1935 FGFR2 0 genome.wustl.edu 37 10 123244998 123244998 + Silent SNP C C T TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 10 123244998 123244998 C T SNP FGFR2 ENST00000457416 human ensembl 74_37 -1 known silent c.2109 p.S703 0.132 pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR2 HGNC ENSG00000066468 88 0 0 84 30 26.3158 KIAA1217 0 genome.wustl.edu 37 10 24820924 24820924 + Splice_Site SNP T T C TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 10 24820924 24820924 T C SNP KIAA1217 ENST00000376454 human ensembl 74_37 +1 known splice_site c.3246+2 e15+2 1.000 - - - no_errors KIAA1217 HGNC ENSG00000120549 35 0 0 31 8 20.5128 DKK1 0 genome.wustl.edu 37 10 54076175 54076175 + Nonsense_Mutation SNP C C A TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 10 54076175 54076175 C A SNP DKK1 ENST00000373970 human ensembl 74_37 +1 known nonsense c.527 p.S176* 0.594 NULL pfam_Dickkopf_N - no_errors DKK1 HGNC ENSG00000107984 84 0 0 40 7 14.8936 ZWINT 0 genome.wustl.edu 37 10 58118611 58118611 + Missense_Mutation SNP C C T TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 10 58118611 58118611 C T SNP ZWINT ENST00000373944 human ensembl 74_37 -1 known missense c.578 p.G193E 0.418 NULL NULL - no_errors ZWINT HGNC ENSG00000122952 105 0 0 84 33 28.2051 CD6 0 genome.wustl.edu 37 11 60785482 60785482 + Missense_Mutation SNP T T G TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 11 60785482 60785482 T G SNP CD6 ENST00000313421 human ensembl 74_37 +1 known missense c.1834 p.S612A 0.000 NULL pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors CD6 HGNC ENSG00000013725 83 0 0 91 24 20.8696 SF1 0 genome.wustl.edu 37 11 64537512 64537512 + Missense_Mutation SNP G G A TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 11 64537512 64537512 G A SNP SF1 ENST00000377390 human ensembl 74_37 -1 known missense c.403 p.R135C 1.000 smart_KH_dom pfam_KH_dom_type_1,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_KH_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_KH_dom_type_1 - no_errors SF1 HGNC ENSG00000168066 39 0 0 34 7 17.0732 MALAT1 0 genome.wustl.edu 37 11 65268685 65268685 + RNA SNP A A G TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 11 65268685 65268685 A G SNP MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MALAT1 HGNC ENSG00000251562 40 0 0 14 20 58.8235 LTBP3 0 genome.wustl.edu 37 11 65321232 65321232 + Silent SNP G G A TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 11 65321232 65321232 G A SNP LTBP3 ENST00000301873 human ensembl 74_37 -1 known silent c.804 p.P268 0.303 superfamily_TB_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP3 HGNC ENSG00000168056 10 0 0 6 4 40 AIP 0 genome.wustl.edu 37 11 67256814 67256814 + Missense_Mutation SNP G G A TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 11 67256814 67256814 G A SNP AIP ENST00000279146 human ensembl 74_37 +1 known missense c.356 p.R119Q 1.000 NULL pfam_PPIase_FKBP_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom - no_errors AIP HGNC ENSG00000110711 47 0 0 65 29 30.8511 GAB2 0 genome.wustl.edu 37 11 77937657 77937657 + Missense_Mutation SNP C C G TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 11 77937657 77937657 C G SNP GAB2 ENST00000361507 human ensembl 74_37 -1 known missense c.1061 p.R354P 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB2 HGNC ENSG00000033327 78 0 0 56 24 30 FAT3 0 genome.wustl.edu 37 11 92532287 92532287 + Missense_Mutation SNP G G T TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 11 92532287 92532287 G T SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.6108 p.Q2036H 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 50 0 0 48 11 18.6441 CLEC7A 0 genome.wustl.edu 37 12 10275931 10275931 + Missense_Mutation SNP G G T TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 12 10275931 10275931 G T SNP CLEC7A ENST00000304084 human ensembl 74_37 -1 known missense c.524 p.P175H 0.002 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC7A HGNC ENSG00000172243 22 0 0 38 3 7.31707 SLCO1B1 0 genome.wustl.edu 37 12 21377657 21377657 + Silent SNP A A G TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 12 21377657 21377657 A G SNP SLCO1B1 ENST00000256958 human ensembl 74_37 +1 known silent c.1749 p.G583 1.000 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B1 HGNC ENSG00000134538 64 0 0 44 42 48.8372 ABCD2 0 genome.wustl.edu 37 12 40013206 40013206 + Missense_Mutation SNP G G A TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 12 40013206 40013206 G A SNP ABCD2 ENST00000308666 human ensembl 74_37 -1 known missense c.212 p.T71I 0.000 NULL pfam_ABC_Peroxi_TM,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCD2 HGNC ENSG00000173208 110 0 0 80 22 21.5686 LRRK2 0 genome.wustl.edu 37 12 40677750 40677750 + Missense_Mutation SNP G G A TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 12 40677750 40677750 G A SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known missense c.2315 p.R772Q 0.998 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 65 0 0 46 35 43.2099 FAM19A2 0 genome.wustl.edu 37 12 62147502 62147502 + Missense_Mutation SNP C C G TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 12 62147502 62147502 C G SNP FAM19A2 ENST00000416284 human ensembl 74_37 -1 known missense c.285 p.W95C 1.000 pfam_Chemokine-like_FAM19A2 pfam_Chemokine-like_FAM19A2 - no_errors FAM19A2 HGNC ENSG00000198673 95 0 0 95 7 6.86275 PTPRB 0 genome.wustl.edu 37 12 70954515 70954515 + Silent SNP G G A TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 12 70954515 70954515 G A SNP PTPRB ENST00000334414 human ensembl 74_37 -1 known silent c.4368 p.Y1456 0.997 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRB HGNC ENSG00000127329 42 0 0 29 13 30.9524 C12orf50 0 genome.wustl.edu 37 12 88379767 88379767 + Missense_Mutation SNP G G A TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 12 88379767 88379767 G A SNP C12orf50 ENST00000298699 human ensembl 74_37 -1 known missense c.986 p.A329V 0.885 NULL NULL - no_errors C12orf50 HGNC ENSG00000165805 124 0 0 99 26 20.8 PLXNC1 0 genome.wustl.edu 37 12 94603439 94603439 + Missense_Mutation SNP A A C TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 12 94603439 94603439 A C SNP PLXNC1 ENST00000258526 human ensembl 74_37 +1 known missense c.1513 p.K505Q 0.004 pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like_fold pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNC1 HGNC ENSG00000136040 174 0 0 108 36 25 KRT19P2 0 genome.wustl.edu 37 12 95228799 95228799 + RNA SNP C C T TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 12 95228799 95228799 C T SNP KRT19P2 ENST00000405395 human ensembl 74_37 +1 putative rna NULL NULL 0.002 - - - no_errors KRT19P2 HGNC ENSG00000216306 20 0 0 21 9 30 NALCN 0 genome.wustl.edu 37 13 101712256 101712256 + Missense_Mutation SNP G G A TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 13 101712256 101712256 G A SNP NALCN ENST00000251127 human ensembl 74_37 -1 known missense c.4819 p.R1607W 0.999 NULL pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 49 0 0 72 27 27.2727 SACS 0 genome.wustl.edu 37 13 23907231 23907231 + Missense_Mutation SNP A A G TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 13 23907231 23907231 A G SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.10784 p.L3595P 1.000 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 56 0 0 46 10 17.8571 NBEA 0 genome.wustl.edu 37 13 36242611 36242611 + Missense_Mutation SNP G G A TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 13 36242611 36242611 G A SNP NBEA ENST00000310336 human ensembl 74_37 +1 known missense c.8705 p.G2902E 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 40 0 0 41 10 19.6078 HSP90AA1 0 genome.wustl.edu 37 14 102552275 102552275 + Missense_Mutation SNP C C A TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 14 102552275 102552275 C A SNP HSP90AA1 ENST00000334701 human ensembl 74_37 -1 known missense c.715 p.A239S 1.000 pirsf_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,prints_Hsp90_N pirsf_Hsp90_fam,pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,prints_Hsp90_N - no_errors HSP90AA1 HGNC ENSG00000080824 109 0 0 74 20 21.2766 AHNAK2 0 genome.wustl.edu 37 14 105416313 105416313 + Missense_Mutation SNP C C G TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 14 105416313 105416313 C G SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.5475 p.M1825I 0.985 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 623 0 0 688 62 8.26667 RTN1 0 genome.wustl.edu 37 14 60194151 60194151 + Silent SNP G G A TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 14 60194151 60194151 G A SNP RTN1 ENST00000267484 human ensembl 74_37 -1 known silent c.1251 p.S417 0.097 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN1 HGNC ENSG00000139970 10 0 0 2 4 66.6667 ACOT1 0 genome.wustl.edu 37 14 74009927 74009927 + Silent SNP C C T TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 14 74009927 74009927 C T SNP ACOT1 ENST00000311148 human ensembl 74_37 +1 known silent c.834 p.N278 0.000 pfam_BAAT_C,pfam_Dienelactn_hydro,pirsf_Acyl-CoA_thioEstase_long-chain pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pfam_Dienelactn_hydro,pirsf_Acyl-CoA_thioEstase_long-chain - no_errors ACOT1 HGNC ENSG00000184227 143 0 0 130 7 5.10949 ESRRB 0 genome.wustl.edu 37 14 76964735 76964735 + Silent SNP C C T TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 14 76964735 76964735 C T SNP ESRRB ENST00000380887 human ensembl 74_37 +1 known silent c.1236 p.S412 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors ESRRB HGNC ENSG00000119715 32 0 0 26 10 27.7778 SEL1L 0 genome.wustl.edu 37 14 81972485 81972485 + Missense_Mutation SNP T T G TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 14 81972485 81972485 T G SNP SEL1L ENST00000336735 human ensembl 74_37 -1 known missense c.441 p.E147D 1.000 pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd pfam_Sel1-like,pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_Sel1-like,pfscan_FN_type2_col-bd - no_errors SEL1L HGNC ENSG00000071537 111 0 0 107 29 21.3235 SNRPN 0 genome.wustl.edu 37 15 25220656 25220656 + Missense_Mutation SNP A A C TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 15 25220656 25220656 A C SNP SNRPN ENST00000444203 human ensembl 74_37 +1 known missense c.167 p.K56T 1.000 pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc,pirsf_snRNP-assoc_SmB/SmN pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc,pirsf_snRNP-assoc_SmB/SmN - no_errors SNRPN HGNC ENSG00000128739 96 0 0 47 41 46.5909 IDH3A 0 genome.wustl.edu 37 15 78461297 78461297 + Missense_Mutation SNP T T A TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 15 78461297 78461297 T A SNP IDH3A ENST00000299518 human ensembl 74_37 +1 known missense c.1051 p.C351S 1.000 pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD - no_errors IDH3A HGNC ENSG00000166411 192 0 0 99 74 42.7746 SPSB3 0 genome.wustl.edu 37 16 1828608 1828608 + Missense_Mutation SNP G G T TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 16 1828608 1828608 G T SNP SPSB3 ENST00000301717 human ensembl 74_37 -1 known missense c.132 p.S44R 0.432 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_SOCS_C,pfscan_B30.2/SPRY,pfscan_SOCS_C - no_errors SPSB3 HGNC ENSG00000162032 60 0 0 55 21 27.6316 APOBR 0 genome.wustl.edu 37 16 28507424 28507424 + Silent SNP C C T TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 16 28507424 28507424 C T SNP APOBR ENST00000564831 human ensembl 74_37 +1 known silent c.1062 p.A354 0.000 NULL NULL - no_errors APOBR HGNC ENSG00000184730 22 0 0 21 5 19.2308 ZNF213 0 genome.wustl.edu 37 16 3190925 3190925 + Silent SNP C C T TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 16 3190925 3190925 C T SNP ZNF213 ENST00000396878 human ensembl 74_37 +1 known silent c.957 p.C319 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,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_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF213 HGNC ENSG00000085644 20 0 0 21 4 16 MMP2 0 genome.wustl.edu 37 16 55513517 55513517 + Silent SNP C C T TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 16 55513517 55513517 C T SNP MMP2 ENST00000219070 human ensembl 74_37 +1 known silent c.126 p.A42 0.998 superfamily_Peptidoglycan-bd-like pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin-like_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A - no_errors MMP2 HGNC ENSG00000087245 39 0 0 63 8 11.2676 LPCAT2 0 genome.wustl.edu 37 16 55584873 55584873 + Missense_Mutation SNP T T A TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 16 55584873 55584873 T A SNP LPCAT2 ENST00000262134 human ensembl 74_37 +1 known missense c.1074 p.D358E 0.997 NULL pfam_EF_hand_dom,pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors LPCAT2 HGNC ENSG00000087253 86 0 0 39 12 23.5294 ANKRD11 0 genome.wustl.edu 37 16 89351692 89351692 + Missense_Mutation SNP C C T TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 16 89351692 89351692 C T SNP ANKRD11 ENST00000301030 human ensembl 74_37 -1 known missense c.1258 p.V420M 0.915 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ENSG00000167522 84 0 0 58 18 23.6842 ANKRD11 0 genome.wustl.edu 37 16 89357494 89357494 + Silent SNP G G A TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 16 89357494 89357494 G A SNP ANKRD11 ENST00000301030 human ensembl 74_37 -1 known silent c.324 p.G108 0.802 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ENSG00000167522 81 0 0 116 17 12.782 PYY 0 genome.wustl.edu 37 17 42030487 42030487 + Missense_Mutation SNP C C T TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 17 42030487 42030487 C T SNP PYY ENST00000360085 human ensembl 74_37 -1 known missense c.259 p.V87I 0.000 NULL pfam_Pancreatic_hormone-like,smart_Pancreatic_hormone-like,pfscan_Pancreatic_hormone-like,prints_Pancreatic_hormone-like - no_errors PYY HGNC ENSG00000131096 77 0 0 76 24 24 GP1BA 0 genome.wustl.edu 37 17 4837151 4837151 + Missense_Mutation SNP G G A TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 17 4837151 4837151 G A SNP GP1BA ENST00000329125 human ensembl 74_37 +1 known missense c.1252 p.A418T 0.000 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors GP1BA HGNC ENSG00000185245 19 0 0 19 7 26.9231 MPO 0 genome.wustl.edu 37 17 56349209 56349209 + Missense_Mutation SNP T T G TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 17 56349209 56349209 T G SNP MPO ENST00000340482 human ensembl 74_37 -1 known missense c.1933 p.T645P 0.001 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors MPO HGNC ENSG00000005381 99 0 0 61 63 50.8065 TP53 0 genome.wustl.edu 37 17 7577094 7577094 + Missense_Mutation SNP G G A TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 17 7577094 7577094 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.844 p.R282W 0.997 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 45 0 0 16 15 48.3871 LAMA1 0 genome.wustl.edu 37 18 7013889 7013889 + Silent SNP C C T TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 18 7013889 7013889 C T SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known silent c.3288 p.G1096 0.996 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 21 0 0 41 6 12.766 PTPRM 0 genome.wustl.edu 37 18 8394487 8394487 + Missense_Mutation SNP C C T TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 18 8394487 8394487 C T SNP PTPRM ENST00000400060 human ensembl 74_37 +1 known missense c.4225 p.R1409C 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRM HGNC ENSG00000173482 33 0 0 26 13 33.3333 ABCA7 0 genome.wustl.edu 37 19 1052101 1052101 + Silent SNP C C T TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 19 1052101 1052101 C T SNP ABCA7 ENST00000263094 human ensembl 74_37 +1 known silent c.3123 p.R1041 0.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA7 HGNC ENSG00000064687 34 0 0 38 8 17.3913 ADAT3 0 genome.wustl.edu 37 19 1912907 1912907 + Silent SNP C C T TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 19 1912907 1912907 C T SNP ADAT3 ENST00000329478 human ensembl 74_37 +1 known silent c.861 p.D287 0.000 pfam_CMP_dCMP_Zn-bd,superfamily_Cytidine_deaminase-like pfam_CMP_dCMP_Zn-bd,superfamily_Cytidine_deaminase-like - no_errors ADAT3 HGNC ENSG00000213638 50 0 0 58 29 33.3333 MKNK2 0 genome.wustl.edu 37 19 2043545 2043545 + Missense_Mutation SNP C C A TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 19 2043545 2043545 C A SNP MKNK2 ENST00000250896 human ensembl 74_37 -1 known missense c.376 p.V126F 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MKNK2 HGNC ENSG00000099875 39 0 0 58 11 15.942 SPTBN4 0 genome.wustl.edu 37 19 41009902 41009902 + Missense_Mutation SNP C C T TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 19 41009902 41009902 C T SNP SPTBN4 ENST00000352632 human ensembl 74_37 +1 known missense c.1528 p.R510C 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN4 HGNC ENSG00000160460 60 0 0 93 72 43.6364 CYP2A6 0 genome.wustl.edu 37 19 41354143 41354143 + Missense_Mutation SNP G G A TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 19 41354143 41354143 G A SNP CYP2A6 ENST00000301141 human ensembl 74_37 -1 known missense c.635 p.T212M 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV - no_errors CYP2A6 HGNC ENSG00000255974 101 0 0 154 125 44.8029 LILRB1 0 genome.wustl.edu 37 19 55144127 55144127 + Missense_Mutation SNP G G A TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 19 55144127 55144127 G A SNP LILRB1 ENST00000324602 human ensembl 74_37 +1 known missense c.874 p.G292R 0.001 smart_Ig_sub,smart_Ig_sub2 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB1 HGNC ENSG00000104972 79 0 0 110 22 16.6667 ZNF329 0 genome.wustl.edu 37 19 58639529 58639529 + Missense_Mutation SNP T T C TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 19 58639529 58639529 T C SNP ZNF329 ENST00000358067 human ensembl 74_37 -1 known missense c.1342 p.T448A 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF329 HGNC ENSG00000181894 68 0 0 38 22 36.6667 MUC16 0 genome.wustl.edu 37 19 9056839 9056839 + Missense_Mutation SNP A A C TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 19 9056839 9056839 A C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.30607 p.F10203V 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 66 0 0 49 12 19.6721 MUC16 0 genome.wustl.edu 37 19 9067293 9067293 + Missense_Mutation SNP A A G TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 19 9067293 9067293 A G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.20153 p.I6718T 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 241 0 0 213 71 25 POU3F3 0 genome.wustl.edu 37 2 105473289 105473289 + Missense_Mutation SNP G G A TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 2 105473289 105473289 G A SNP POU3F3 ENST00000361360 human ensembl 74_37 +1 known missense c.1321 p.D441N 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Transcription_factor_POU,pfscan_Homeobox_dom,prints_POU pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pirsf_Transcription_factor_POU,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU3F3 HGNC ENSG00000198914 30 0 0 90 11 10.8911 TMEM177 0 genome.wustl.edu 37 2 120439335 120439335 + Nonsense_Mutation SNP G G A TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 2 120439335 120439335 G A SNP TMEM177 ENST00000272521 human ensembl 74_37 +1 known nonsense c.906 p.W302* 0.928 NULL NULL - no_errors TMEM177 HGNC ENSG00000144120 101 1 0.980392 153 29 15.9341 CXCR2P1 0 genome.wustl.edu 37 2 218925679 218925679 + RNA SNP C C A TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 2 218925679 218925679 C A SNP CXCR2P1 ENST00000439871 human ensembl 74_37 -1 known rna NULL NULL 0.415 - - - no_errors CXCR2P1 HGNC ENSG00000229754 14 0 0 28 3 9.67742 USP37 0 genome.wustl.edu 37 2 219319687 219319687 + Missense_Mutation SNP G G A TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 2 219319687 219319687 G A SNP USP37 ENST00000258399 human ensembl 74_37 -1 known missense c.2906 p.T969M 0.219 NULL pfam_Peptidase_C19/C67,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19/C67 - no_errors USP37 HGNC ENSG00000135913 104 0 0 90 25 21.7391 COL6A3 0 genome.wustl.edu 37 2 238280829 238280829 + Silent SNP G G A TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 2 238280829 238280829 G A SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known silent c.3831 p.S1277 0.895 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 51 0 0 38 11 22.449 BIRC6 0 genome.wustl.edu 37 2 32703759 32703759 + Silent SNP G G A TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 2 32703759 32703759 G A SNP BIRC6 ENST00000421745 human ensembl 74_37 +1 known silent c.7125 p.V2375 0.999 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 70 0 0 57 11 16.1765 DHX57 0 genome.wustl.edu 37 2 39095333 39095333 + Missense_Mutation SNP C C T TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 2 39095333 39095333 C T SNP DHX57 ENST00000295373 human ensembl 74_37 -1 known missense c.215 p.R72H 0.002 NULL pfam_RWD-domain,pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Znf_CCCH,superfamily_P-loop_NTPase,superfamily_UBA-like,superfamily_UBQ-conjugating_enzyme/RWD,smart_Znf_CCCH,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX57 HGNC ENSG00000163214 78 0 0 45 12 21.0526 SLC8A1 0 genome.wustl.edu 37 2 40366764 40366764 + Silent SNP G G A TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 2 40366764 40366764 G A SNP SLC8A1 ENST00000332839 human ensembl 74_37 -1 known silent c.2322 p.F774 0.924 tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_domain,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex - no_errors SLC8A1 HGNC ENSG00000183023 101 0 0 132 11 7.69231 LRPPRC 0 genome.wustl.edu 37 2 44175646 44175646 + Missense_Mutation SNP A A G TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 2 44175646 44175646 A G SNP LRPPRC ENST00000260665 human ensembl 74_37 -1 known missense c.1747 p.Y583H 1.000 NULL pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat - no_errors LRPPRC HGNC ENSG00000138095 50 0 0 27 16 37.2093 RPS27A 0 genome.wustl.edu 37 2 55462594 55462594 + Missense_Mutation SNP C C T TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 2 55462594 55462594 C T SNP RPS27A ENST00000272317 human ensembl 74_37 +1 known missense c.352 p.R118C 1.000 pfam_Ribosomal_S27a pfam_Ubiquitin_dom,pfam_Ribosomal_S27a,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors RPS27A HGNC ENSG00000143947 142 0 0 117 11 8.59375 CNNM4 0 genome.wustl.edu 37 2 97463383 97463383 + Silent SNP A A G TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 2 97463383 97463383 A G SNP CNNM4 ENST00000377075 human ensembl 74_37 +1 known silent c.1680 p.T560 0.677 NULL pfam_DUF21,pfam_CBS_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors CNNM4 HGNC ENSG00000158158 41 0 0 81 14 14.7368 KIAA1211L 0 genome.wustl.edu 37 2 99439439 99439439 + Missense_Mutation SNP G G A TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 2 99439439 99439439 G A SNP KIAA1211L ENST00000397899 human ensembl 74_37 -1 known missense c.1297 p.R433C 0.000 NULL NULL - no_errors KIAA1211L HGNC ENSG00000196872 14 0 0 22 4 15.3846 XRN2 0 genome.wustl.edu 37 20 21321389 21321389 + Missense_Mutation SNP A A C TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 20 21321389 21321389 A C SNP XRN2 ENST00000377191 human ensembl 74_37 +1 known missense c.1309 p.I437L 1.000 pirsf_5_3_exoribonuclease_2 pfam_Put_53exo,superfamily_Znf_CCHC,pirsf_5_3_exoribonuclease_2 - no_errors XRN2 HGNC ENSG00000088930 102 0 0 60 8 11.7647 CPXM1 0 genome.wustl.edu 37 20 2775009 2775009 + Missense_Mutation SNP A A G TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 20 2775009 2775009 A G SNP CPXM1 ENST00000380605 human ensembl 74_37 -1 known missense c.2032 p.Y678H 1.000 superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors CPXM1 HGNC ENSG00000088882 49 0 0 65 14 17.7215 DSN1 0 genome.wustl.edu 37 20 35399407 35399407 + Nonsense_Mutation SNP G G T TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 20 35399407 35399407 G T SNP DSN1 ENST00000373745 human ensembl 74_37 -1 known nonsense c.224 p.S75* 0.029 NULL pfam_Dsn1/Mis13 - no_errors DSN1 HGNC ENSG00000149636 205 0 0 143 45 23.9362 KCNB1 0 genome.wustl.edu 37 20 48098751 48098751 + Silent SNP C C T TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 20 48098751 48098751 C T SNP KCNB1 ENST00000371741 human ensembl 74_37 -1 known silent c.267 p.P89 0.235 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.1,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB1 HGNC ENSG00000158445 47 0 0 89 5 5.31915 APCDD1L 0 genome.wustl.edu 37 20 57042265 57042265 + Missense_Mutation SNP G G C TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 20 57042265 57042265 G C SNP APCDD1L ENST00000439429 human ensembl 74_37 -1 known missense c.671 p.P224R 0.000 NULL NULL - no_errors APCDD1L HGNC ENSG00000198768 17 0 0 41 11 21.1538 DIDO1 0 genome.wustl.edu 37 20 61537350 61537350 + Missense_Mutation SNP C C T TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 20 61537350 61537350 C T SNP DIDO1 ENST00000266070 human ensembl 74_37 -1 known missense c.1477 p.G493R 0.000 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 145 0 0 159 17 9.65909 CHRNA4 0 genome.wustl.edu 37 20 61981969 61981969 + Missense_Mutation SNP A A G TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 20 61981969 61981969 A G SNP CHRNA4 ENST00000370263 human ensembl 74_37 -1 known missense c.794 p.F265S 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA4 HGNC ENSG00000101204 68 0 0 74 30 28.8462 TIAM1 0 genome.wustl.edu 37 21 32493030 32493030 + Missense_Mutation SNP C C T TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 21 32493030 32493030 C T SNP TIAM1 ENST00000286827 human ensembl 74_37 -1 known missense c.4432 p.G1478R 0.995 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM1 HGNC ENSG00000156299 57 0 0 42 39 48.1481 OR11H1 0 genome.wustl.edu 37 22 16449539 16449539 + Missense_Mutation SNP A A G TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 22 16449539 16449539 A G SNP OR11H1 ENST00000252835 human ensembl 74_37 -1 known missense c.266 p.V89A 0.234 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR11H1 HGNC ENSG00000130538 57 0 0 33 10 23.2558 PCOLCE2 0 genome.wustl.edu 37 3 142567084 142567084 + Missense_Mutation SNP G G T TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 3 142567084 142567084 G T SNP PCOLCE2 ENST00000295992 human ensembl 74_37 -1 known missense c.423 p.F141L 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Netrin_module_non-TIMP,superfamily_CUB_dom,superfamily_TIMP-like_OB-fold,smart_CUB_dom,smart_Netrin_module_non-TIMP,pfscan_CUB_dom,pfscan_Netrin_domain - no_errors PCOLCE2 HGNC ENSG00000163710 68 0 0 44 10 18.5185 STAC 0 genome.wustl.edu 37 3 36422159 36422159 + Silent SNP C C T TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 3 36422159 36422159 C T SNP STAC ENST00000273183 human ensembl 74_37 +1 known silent c.24 p.R8 0.901 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_SH3_domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors STAC HGNC ENSG00000144681 14 0 0 14 3 17.6471 UBA7 0 genome.wustl.edu 37 3 49848017 49848017 + Missense_Mutation SNP A A G TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 3 49848017 49848017 A G SNP UBA7 ENST00000333486 human ensembl 74_37 -1 known missense c.1400 p.V467A 0.981 pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 pfam_ThiF_NAD_FAD-bd,pfam_UBact_repeat,pfam_Ub-activating_enz_e1_C,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 - no_errors UBA7 HGNC ENSG00000182179 241 1 0.413223 200 66 24.812 SEC24B 0 genome.wustl.edu 37 4 110415869 110415869 + Missense_Mutation SNP G G A TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 4 110415869 110415869 G A SNP SEC24B ENST00000265175 human ensembl 74_37 +1 known missense c.1345 p.V449I 0.000 NULL pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC24B HGNC ENSG00000138802 94 0 0 96 13 11.9266 ANK2 0 genome.wustl.edu 37 4 114251533 114251533 + Missense_Mutation SNP G G A TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 4 114251533 114251533 G A SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known missense c.3032 p.R1011H 1.000 pfam_ZU5,smart_ZU5,pfscan_ZU5 pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 40 0 0 41 8 16.3265 NR3C2 0 genome.wustl.edu 37 4 149075976 149075976 + Silent SNP T T G TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 4 149075976 149075976 T G SNP NR3C2 ENST00000355292 human ensembl 74_37 -1 known silent c.2103 p.P701 0.111 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR3C2 HGNC ENSG00000151623 16 0 0 38 20 34.4828 DCHS2 0 genome.wustl.edu 37 4 155241936 155241936 + Missense_Mutation SNP C C T TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 4 155241936 155241936 C T SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known missense c.3250 p.G1084S 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 154 1 0.645161 119 16 11.8519 FRG1 0 genome.wustl.edu 37 4 190874255 190874255 + Missense_Mutation SNP A A T TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 4 190874255 190874255 A T SNP FRG1 ENST00000226798 human ensembl 74_37 +1 known missense c.292 p.T98S 1.000 pfam_FRG1,pfam_Fascin-domain,superfamily_Actin_cross-linking pfam_FRG1,pfam_Fascin-domain,superfamily_Actin_cross-linking - no_errors FRG1 HGNC ENSG00000109536 34 0 0 29 4 12.1212 TENM2 0 genome.wustl.edu 37 5 167689445 167689445 + Missense_Mutation SNP C C A TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 5 167689445 167689445 C A SNP TENM2 ENST00000518659 human ensembl 74_37 +1 known missense c.7955 p.S2652Y 0.997 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC ENSG00000145934 8 0 0 6 3 33.3333 ADAMTS2 0 genome.wustl.edu 37 5 178552039 178552039 + Missense_Mutation SNP C C T TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 5 178552039 178552039 C T SNP ADAMTS2 ENST00000251582 human ensembl 74_37 -1 known missense c.2893 p.E965K 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS2 HGNC ENSG00000087116 127 0 0 137 8 5.51724 CDH18 0 genome.wustl.edu 37 5 19838948 19838948 + Missense_Mutation SNP G G A TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 5 19838948 19838948 G A SNP CDH18 ENST00000274170 human ensembl 74_37 -1 known missense c.148 p.R50C 1.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH18 HGNC ENSG00000145526 55 0 0 36 5 12.1951 HCN1 0 genome.wustl.edu 37 5 45396782 45396782 + Missense_Mutation SNP C C T TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 5 45396782 45396782 C T SNP HCN1 ENST00000303230 human ensembl 74_37 -1 known missense c.1042 p.A348T 1.000 pfam_Ion_trans_dom pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN1 HGNC ENSG00000164588 58 0 0 73 7 8.75 IQGAP2 0 genome.wustl.edu 37 5 75993866 75993866 + Missense_Mutation SNP C C T TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 5 75993866 75993866 C T SNP IQGAP2 ENST00000274364 human ensembl 74_37 +1 known missense c.4261 p.L1421F 1.000 pfam_RasGAP_C pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_dom,pfscan_RasGAP - no_errors IQGAP2 HGNC ENSG00000145703 42 0 0 23 4 14.8148 GRM1 0 genome.wustl.edu 37 6 146720426 146720426 + Silent SNP C C T TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 6 146720426 146720426 C T SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known silent c.2251 p.L751 0.997 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5 - no_errors GRM1 HGNC ENSG00000152822 96 0 0 51 68 57.1429 PPIL4 0 genome.wustl.edu 37 6 149862660 149862660 + Missense_Mutation SNP C C G TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 6 149862660 149862660 C G SNP PPIL4 ENST00000253329 human ensembl 74_37 -1 known missense c.133 p.V45L 1.000 pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,pfam_RRM_dom,superfamily_Cyclophilin-like_PPIase_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIL4 HGNC ENSG00000131013 51 0 0 50 8 13.7931 T 0 genome.wustl.edu 37 6 166580185 166580185 + Silent SNP G G A TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 6 166580185 166580185 G A SNP T ENST00000296946 human ensembl 74_37 -1 known silent c.366 p.C122 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_Brachyury,pfscan_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_Brachyury,prints_TF_T-box,pfscan_TF_T-box - no_errors T HGNC ENSG00000164458 94 0 0 81 15 15.625 GPANK1 0 genome.wustl.edu 37 6 31631743 31631743 + Silent SNP C C T TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 6 31631743 31631743 C T SNP GPANK1 ENST00000375893 human ensembl 74_37 -1 known silent c.513 p.G171 0.090 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_G_patch_dom,superfamily_Ankyrin_rpt-contain_dom,smart_G_patch_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_G_patch_dom - no_errors GPANK1 HGNC ENSG00000204438 56 0 0 39 33 45.8333 PKHD1 0 genome.wustl.edu 37 6 51619732 51619732 + Missense_Mutation SNP T T C TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 6 51619732 51619732 T C SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known missense c.8647 p.I2883V 0.848 NULL pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 84 0 0 55 55 50 CD109 0 genome.wustl.edu 37 6 74446106 74446106 + Missense_Mutation SNP G G T TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 6 74446106 74446106 G T SNP CD109 ENST00000287097 human ensembl 74_37 +1 known missense c.508 p.D170Y 1.000 pfam_A2M_N pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors CD109 HGNC ENSG00000156535 155 0 0 102 15 12.8205 CD109 0 genome.wustl.edu 37 6 74446205 74446205 + Missense_Mutation SNP G G A TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 6 74446205 74446205 G A SNP CD109 ENST00000287097 human ensembl 74_37 +1 known missense c.607 p.D203N 1.000 pfam_A2M_N pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors CD109 HGNC ENSG00000156535 164 0 0 134 13 8.84354 CD109 0 genome.wustl.edu 37 6 74446228 74446228 + Silent SNP G G T TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 6 74446228 74446228 G T SNP CD109 ENST00000287097 human ensembl 74_37 +1 known silent c.630 p.V210 1.000 pfam_A2M_N pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors CD109 HGNC ENSG00000156535 157 0 0 121 17 12.3188 LRWD1 0 genome.wustl.edu 37 7 102109363 102109363 + Missense_Mutation SNP G G A TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 7 102109363 102109363 G A SNP LRWD1 ENST00000292616 human ensembl 74_37 +1 known missense c.1082 p.R361H 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,pfam_Leu-rich_rpt,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LRWD1 HGNC ENSG00000161036 45 0 0 38 4 9.52381 FAM3C 0 genome.wustl.edu 37 7 121012194 121012194 + Splice_Site SNP C C A TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 7 121012194 121012194 C A SNP FAM3C ENST00000359943 human ensembl 74_37 -1 known splice_site c.119-1 e3-1 1.000 - - - no_errors FAM3C HGNC ENSG00000196937 25 0 0 18 2 10 KCNH2 0 genome.wustl.edu 37 7 150648900 150648900 + Silent SNP C C T TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 7 150648900 150648900 C T SNP KCNH2 ENST00000262186 human ensembl 74_37 -1 known silent c.1581 p.A527 0.828 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH2 HGNC ENSG00000055118 39 0 0 53 13 19.697 HOXA6 0 genome.wustl.edu 37 7 27185407 27185407 + Missense_Mutation SNP G G A TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 7 27185407 27185407 G A SNP HOXA6 ENST00000222728 human ensembl 74_37 -1 known missense c.572 p.A191V 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXA6 HGNC ENSG00000106006 187 0 0 155 191 55.2023 HOXA7 0 genome.wustl.edu 37 7 27194773 27194773 + Missense_Mutation SNP G G A TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 7 27194773 27194773 G A SNP HOXA7 ENST00000242159 human ensembl 74_37 -1 known missense c.448 p.H150Y 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXA7 HGNC ENSG00000122592 135 0 0 122 156 56.1151 SDK1 0 genome.wustl.edu 37 7 4011158 4011158 + Missense_Mutation SNP C C T TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 7 4011158 4011158 C T SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known missense c.1775 p.T592M 0.221 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 20 0 0 31 3 8.82353 SDK1 0 genome.wustl.edu 37 7 4272903 4272903 + Missense_Mutation SNP C C A TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 7 4272903 4272903 C A SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known missense c.5844 p.D1948E 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 57 0 0 102 8 7.27273 ABCA13 0 genome.wustl.edu 37 7 48259063 48259063 + Missense_Mutation SNP A A G TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 7 48259063 48259063 A G SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.400 p.N134D 0.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 107 0 0 177 26 12.8079 GTF2IRD1 0 genome.wustl.edu 37 7 73922447 73922447 + Missense_Mutation SNP A A G TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 7 73922447 73922447 A G SNP GTF2IRD1 ENST00000265755 human ensembl 74_37 +1 known missense c.37 p.N13D 0.392 pirsf_TF_II-I pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I - no_errors GTF2IRD1 HGNC ENSG00000006704 58 0 0 39 14 26.4151 GTF2IRD2B 0 genome.wustl.edu 37 7 74538990 74538990 + Nonsense_Mutation SNP C C T TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 7 74538990 74538990 C T SNP GTF2IRD2B ENST00000312575 human ensembl 74_37 +1 known nonsense c.412 p.R138* 0.012 pfam_GTF2I,superfamily_GTF2I,pfscan_GTF2I pfam_GTF2I,superfamily_GTF2I,superfamily_RNaseH-like_dom,pfscan_GTF2I - no_errors GTF2IRD2B HGNC ENSG00000174428 37 0 0 42 7 14.2857 EFR3A 0 genome.wustl.edu 37 8 133014047 133014047 + Missense_Mutation SNP A A T TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 8 133014047 133014047 A T SNP EFR3A ENST00000254624 human ensembl 74_37 +1 known missense c.2199 p.K733N 1.000 NULL superfamily_ARM-type_fold - no_errors EFR3A HGNC ENSG00000132294 69 0 0 47 5 9.61538 TG 0 genome.wustl.edu 37 8 133885383 133885383 + Silent SNP G G A TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 8 133885383 133885383 G A SNP TG ENST00000220616 human ensembl 74_37 +1 known silent c.555 p.A185 0.000 superfamily_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 45 0 0 57 5 8.06452 MMP16 0 genome.wustl.edu 37 8 89209481 89209481 + Missense_Mutation SNP G G T TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 8 89209481 89209481 G T SNP MMP16 ENST00000286614 human ensembl 74_37 -1 known missense c.187 p.L63M 1.000 pirsf_Pept_M10A_Metazoans,pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP16 HGNC ENSG00000156103 35 0 0 51 7 12.069 CNTRL 0 genome.wustl.edu 37 9 123935999 123935999 + Missense_Mutation SNP G G A TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 9 123935999 123935999 G A SNP CNTRL ENST00000238341 human ensembl 74_37 +1 known missense c.6731 p.R2244Q 0.551 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp - no_errors CNTRL HGNC ENSG00000119397 163 0 0 227 28 10.9804 CBWD1 0 genome.wustl.edu 37 9 178910 178910 + Silent SNP A A T TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 9 178910 178910 A T SNP CBWD1 ENST00000356521 human ensembl 74_37 -1 known silent c.60 p.P20 0.925 NULL pfam_CobW/HypB/UreG_dom,pfam_Cbl_biosynth_CobW-like_C,superfamily_P-loop_NTPase,superfamily_Cbl_biosynth_CobW-like_C - no_errors CBWD1 HGNC ENSG00000172785 147 0 0 134 17 11.2583 DENND4C 0 genome.wustl.edu 37 9 19346918 19346918 + Missense_Mutation SNP A A T TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 9 19346918 19346918 A T SNP DENND4C ENST00000602925 human ensembl 74_37 +1 known missense c.4004 p.H1335L 0.995 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4C HGNC ENSG00000137145 45 0 0 26 4 13.3333 FOCAD 0 genome.wustl.edu 37 9 20923662 20923662 + Silent SNP G G A TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 9 20923662 20923662 G A SNP FOCAD ENST00000338382 human ensembl 74_37 +1 known silent c.2856 p.E952 0.998 superfamily_ARM-type_fold pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold - no_errors FOCAD HGNC ENSG00000188352 21 0 0 26 4 13.3333 GLIPR2 0 genome.wustl.edu 37 9 36150911 36150911 + Missense_Mutation SNP A A G TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 9 36150911 36150911 A G SNP GLIPR2 ENST00000377960 human ensembl 74_37 +1 known missense c.269 p.Y90C 1.000 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors GLIPR2 HGNC ENSG00000122694 43 0 0 47 12 20.339 ERMP1 0 genome.wustl.edu 37 9 5797844 5797844 + Missense_Mutation SNP A A C TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 9 5797844 5797844 A C SNP ERMP1 ENST00000339450 human ensembl 74_37 -1 known missense c.2359 p.S787A 1.000 NULL pfam_Peptidase_M28,pfam_Peptidase_M20 - no_errors ERMP1 HGNC ENSG00000099219 95 0 0 84 23 21.4953 SPATA31D1 0 genome.wustl.edu 37 9 84607801 84607801 + Missense_Mutation SNP G G A TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 9 84607801 84607801 G A SNP SPATA31D1 ENST00000344803 human ensembl 74_37 +1 known missense c.2416 p.E806K 0.000 NULL NULL - no_errors SPATA31D1 HGNC ENSG00000214929 84 0 0 85 7 7.6087 NGFRAP1 0 genome.wustl.edu 37 X 102632528 102632528 + Missense_Mutation SNP C C T TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 X 102632528 102632528 C T SNP NGFRAP1 ENST00000299872 human ensembl 74_37 +1 known missense c.109 p.R37W 0.000 pfam_TF_A-like/BEX-like,pirsf_BEX pfam_TF_A-like/BEX-like,pirsf_BEX - no_errors NGFRAP1 HGNC ENSG00000166681 157 0 0 156 87 35.8025 DCAF12L1 0 genome.wustl.edu 37 X 125686062 125686062 + Missense_Mutation SNP T T A TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 X 125686062 125686062 T A SNP DCAF12L1 ENST00000371126 human ensembl 74_37 -1 known missense c.530 p.Y177F 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L1 HGNC ENSG00000198889 35 0 0 40 14 25.9259 GPR101 0 genome.wustl.edu 37 X 136113307 136113307 + Missense_Mutation SNP T T C TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 X 136113307 136113307 T C SNP GPR101 ENST00000298110 human ensembl 74_37 -1 known missense c.527 p.D176G 0.993 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR101 HGNC ENSG00000165370 35 0 0 11 13 54.1667 MTMR1 0 genome.wustl.edu 37 X 149905164 149905164 + Missense_Mutation SNP G G A TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 X 149905164 149905164 G A SNP MTMR1 ENST00000445323 human ensembl 74_37 +1 known missense c.1178 p.R393H 0.946 NULL pfam_Myotubularin-like_Pase_dom,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase - no_errors MTMR1 HGNC ENSG00000063601 39 0 0 13 23 63.8889 WASH6P 0 genome.wustl.edu 37 X 155254828 155254828 + RNA SNP T T C TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 X 155254828 155254828 T C SNP WASH6P ENST00000461007 human ensembl 74_37 +1 known rna NULL NULL 0.038 - - - no_errors WASH6P HGNC ENSG00000182484 8 0 0 7 7 50 KDM6A 0 genome.wustl.edu 37 X 44733193 44733193 + Missense_Mutation SNP T T C TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 X 44733193 44733193 T C SNP KDM6A ENST00000382899 human ensembl 74_37 +1 known missense c.185 p.F62S 1.000 NULL pfam_JmjC_dom,pfam_TPR_1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors KDM6A HGNC ENSG00000147050 19 0 0 15 11 42.3077 C1orf56 0 genome.wustl.edu 37 1 151021328 151021331 + Frame_Shift_Del DEL AGTA AGTA - TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 AGTA AGTA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 1 151021328 151021331 AGTA - DEL C1orf56 ENST00000368926 human ensembl 74_37 +1 known frame_shift_del c.1005 p.I336fs 1.000 NULL superfamily_Thrombospondin_1_rpt - no_errors C1orf56 HGNC ENSG00000143443 97 0 0 66 31 31.9588 FLG-AS1 0 genome.wustl.edu 37 1 152287342 152287342 + RNA DEL T T - TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 1 152287342 152287342 T - DEL FLG-AS1 ENST00000392688 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors FLG-AS1 HGNC ENSG00000237975 12 0 0 15 3 16.6667 BRINP2 0 genome.wustl.edu 37 1 177250855 177250856 + RNA INS - - AC TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 1 177250855 177250856 - AC INS BRINP2 ENST00000478325 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors BRINP2 HGNC ENSG00000198797 9 0 0 7 4 36.3636 OR8B3 0 genome.wustl.edu 37 11 124266426 124266428 + In_Frame_Del DEL AGA AGA - TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 11 124266426 124266428 AGA - DEL OR8B3 ENST00000354597 human ensembl 74_37 -1 known in_frame_del c.822_820 p.S274in_frame_del 0.701:0.967:0.969 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8B3 HGNC ENSG00000196661 134 0 0 92 8 8 EP400 0 genome.wustl.edu 37 12 132547093 132547094 + In_Frame_Ins INS - - CAG TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 12 132547093 132547094 - CAG INS EP400 ENST00000333577 human ensembl 74_37 +1 known in_frame_ins c.8289_8290 p.2767in_frame_insQ 0.900:0.920 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 57 0 0 90 30 25 SUOX 0 genome.wustl.edu 37 12 56397724 56397739 + Frame_Shift_Del DEL CAGCCCTGAAGGTCAA CAGCCCTGAAGGTCAA - TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 CAGCCCTGAAGGTCAA CAGCCCTGAAGGTCAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 12 56397724 56397739 CAGCCCTGAAGGTCAA - DEL SUOX ENST00000266971 human ensembl 74_37 +1 known frame_shift_del c.551_566 p.L186fs 1.000:0.985:1.000:0.992:0.982:1.000:1.000:0.940:0.939:0.926:0.911:0.986:1.000:1.000:1.000:1.000 superfamily_OxRdtase_Mopterin-bd_dom,prints_Mopterin_OxRdtase_euk pfam_OxRdtase_Mopterin-bd_dom,pfam_MoCF_OxRdtse_dimer,pfam_Cyt_B5-like_heme/steroid-bd,superfamily_OxRdtase_Mopterin-bd_dom,superfamily_Ig_E-set,superfamily_Cyt_B5-like_heme/steroid-bd,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Mopterin_OxRdtase_euk,prints_Cyt_B5-like_heme/steroid-bd - no_errors SUOX HGNC ENSG00000139531 71 0 0 84 6 6.66667 INF2 0 genome.wustl.edu 37 14 105174270 105174271 + Frame_Shift_Ins INS - - G TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 14 105174270 105174271 - G INS INF2 ENST00000392634 human ensembl 74_37 +1 known frame_shift_ins c.1666_1667 p.V557fs 0.000:0.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_WH2_dom,superfamily_ARM-type_fold,smart_FH2_Formin,pfscan_WH2_dom - no_errors INF2 HGNC ENSG00000203485 75 0 0 81 9 10 MBIP 0 genome.wustl.edu 37 14 36770037 36770037 + RNA DEL A A - TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 14 36770037 36770037 A - DEL MBIP ENST00000604154 human ensembl 74_37 -1 putative rna NULL NULL 0.241 - - - no_errors MBIP HGNC ENSG00000151332 10 0 0 15 4 21.0526 CLIP4 0 genome.wustl.edu 37 2 29404635 29404637 + In_Frame_Del DEL ATG ATG - TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 ATG ATG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 2 29404635 29404637 ATG - DEL CLIP4 ENST00000320081 human ensembl 74_37 +1 known in_frame_del c.1994_1996 p.D666in_frame_del 1.000:0.998:1.000 pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain pfam_CAP-Gly_domain,pfam_Ankyrin_rpt,superfamily_CAP-Gly_domain,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_CAP-Gly_domain - no_errors CLIP4 HGNC ENSG00000115295 108 0 0 155 9 5.4878 MND1 0 genome.wustl.edu 37 4 154315457 154315457 + Frame_Shift_Del DEL T T - TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 4 154315457 154315457 T - DEL MND1 ENST00000240488 human ensembl 74_37 +1 known frame_shift_del c.320 p.I107fs 0.996 pfam_Mnd1,pfam_BlaI_family,pirsf_Mnd1 pfam_Mnd1,pfam_BlaI_family,pirsf_Mnd1 - no_errors MND1 HGNC ENSG00000121211 43 0 0 21 6 22.2222 ANTXR2 0 genome.wustl.edu 37 4 80905990 80905990 + Frame_Shift_Del DEL C C - TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 4 80905990 80905990 C - DEL ANTXR2 ENST00000307333 human ensembl 74_37 -1 known frame_shift_del c.1069 p.A357fs 0.559 pirsf_Anthrax_toxin_rcpt pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_C,pfam_Anthrax_toxin_rcpt_extracel,pfam_VWF_A,superfamily_Ig_E-set,smart_VWF_A,pfscan_VWF_A - no_errors ANTXR2 HGNC ENSG00000163297 17 0 0 16 2 11.1111 MRPL13 0 genome.wustl.edu 37 8 121444341 121444343 + In_Frame_Del DEL AAC AAC - TCGA-FP-A4BF-01A-12D-A24D-08 TCGA-FP-A4BF-10A-01D-A24F-08 AAC AAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e806a8c8-b396-481c-a75c-307f0681019a 8868a8d7-86af-4602-9d9f-4c06dc473b51 8 121444341 121444343 AAC - DEL MRPL13 ENST00000306185 human ensembl 74_37 -1 known in_frame_del c.174_172 p.V58in_frame_del 1.000:1.000:1.000 pfam_Ribosomal_L13,superfamily_Ribosomal_L13_dom,pirsf_Ribosomal_L13,tigrfam_Ribosomal_L13_bac-type pfam_Ribosomal_L13,superfamily_Ribosomal_L13_dom,pirsf_Ribosomal_L13,tigrfam_Ribosomal_L13_bac-type - no_errors MRPL13 HGNC ENSG00000172172 97 0 0 151 10 6.21118