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 ABHD17A 0 genome.wustl.edu 37 19 1881550 1881550 + Silent SNP G G A TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 19 1881550 1881550 G A SNP ABHD17A ENST00000250974 human ensembl 74_37 -1 known silent c.16 p.L6 0.532 NULL pfam_Dienelactn_hydro - no_errors ABHD17A HGNC ENSG00000129968 43 0 0.00 20 3 13.04 ACTL8 0 genome.wustl.edu 37 1 18152626 18152626 + Missense_Mutation SNP A A G TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 1 18152626 18152626 A G SNP ACTL8 ENST00000375406 human ensembl 74_37 +1 known missense c.713 p.Y238C 0.396 pfam_Actin-related,smart_Actin-related,prints_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL8 HGNC ENSG00000117148 tier1 - - 126 0 0.00 82 11 11.83 AMOTL1 0 genome.wustl.edu 37 11 94532866 94532866 + Silent SNP G G A TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 11 94532866 94532866 G A SNP AMOTL1 ENST00000433060 human ensembl 74_37 +1 known silent c.510 p.T170 1.000 NULL pfam_Angiomotin_C,prints_Angiomotin - no_errors AMOTL1 HGNC ENSG00000166025 tier1 - - 37 0 0.00 42 4 8.70 ANKRD12 0 genome.wustl.edu 37 18 9256666 9256666 + Missense_Mutation SNP A A G TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 18 9256666 9256666 A G SNP ANKRD12 ENST00000262126 human ensembl 74_37 +1 known missense c.3401 p.K1134R 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ENSG00000101745 tier1 - - 108 0 0.00 78 7 8.24 APOB 0 genome.wustl.edu 37 2 21227307 21227307 + Missense_Mutation SNP G G A TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 2 21227307 21227307 G A SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.11921 p.A3974V 0.000 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 tier1 - - 150 0 0.00 86 8 8.51 ARRB2 0 genome.wustl.edu 37 17 4621944 4621944 + Silent SNP C C G TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 17 4621944 4621944 C G SNP ARRB2 ENST00000269260 human ensembl 74_37 +1 known silent c.744 p.A248 0.999 pfam_Arrestin_C-like,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin - no_errors ARRB2 HGNC ENSG00000141480 tier1 - - 206 0 0.00 180 10 5.26 BBX 0 genome.wustl.edu 37 3 107435614 107435614 + Missense_Mutation SNP G G A TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 3 107435614 107435614 G A SNP BBX ENST00000325805 human ensembl 74_37 +1 known missense c.323 p.R108Q 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_TF_HMG_box_BBX_DUF2028,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors BBX HGNC ENSG00000114439 tier1 - - 161 0 0.00 151 12 7.36 C6orf47 0 genome.wustl.edu 37 6 31626986 31626986 + Missense_Mutation SNP C C T TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 6 31626986 31626986 C T SNP C6orf47 ENST00000375911 human ensembl 74_37 -1 known missense c.739 p.A247T 1.000 NULL NULL - no_errors C6orf47 HGNC ENSG00000204439 tier1 - - 98 0 0.00 79 7 8.14 CACNA1F 0 genome.wustl.edu 37 X 49079193 49079193 + Silent SNP G G A TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 X 49079193 49079193 G A SNP CACNA1F ENST00000376265 human ensembl 74_37 -1 known silent c.2223 p.L741 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1F HGNC ENSG00000102001 tier1 - - 26 0 0.00 24 5 17.24 CCDC33 0 genome.wustl.edu 37 15 74625112 74625112 + Missense_Mutation SNP G G A TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 15 74625112 74625112 G A SNP CCDC33 ENST00000321288 human ensembl 74_37 +1 known missense c.2473 p.A825T 0.076 NULL pfam_C2_dom,superfamily_C2_dom - no_errors CCDC33 HGNC ENSG00000140481 tier1 - - 149 0 0.00 133 7 5.00 CDH1 0 genome.wustl.edu 37 16 68845617 68845617 + Missense_Mutation SNP A A T TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 16 68845617 68845617 A T SNP CDH1 ENST00000261769 human ensembl 74_37 +1 known missense c.863 p.D288V 0.991 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 tier1 - - 139 0 0.00 83 10 10.75 CPXM2 0 genome.wustl.edu 37 10 125539747 125539747 + Missense_Mutation SNP C C T TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 10 125539747 125539747 C T SNP CPXM2 ENST00000241305 human ensembl 74_37 -1 known missense c.914 p.R305Q 1.000 NULL 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 CPXM2 HGNC ENSG00000121898 tier1 - - 161 0 0.00 120 7 5.51 DUPD1 0 genome.wustl.edu 37 10 76797677 76797677 + Missense_Mutation SNP G G A TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 10 76797677 76797677 G A SNP DUPD1 ENST00000338487 human ensembl 74_37 -1 known missense c.580 p.R194W 0.999 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP_famA,prints_Atypical_DUSP - no_errors DUPD1 HGNC ENSG00000188716 tier1 - - 95 0 0.00 96 8 7.69 EDIL3 0 genome.wustl.edu 37 5 83433075 83433075 + Silent SNP T T G TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 5 83433075 83433075 T G SNP EDIL3 ENST00000296591 human ensembl 74_37 -1 known silent c.453 p.G151 1.000 pfam_EGF_extracell,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,pfam_EGF_extracell,superfamily_Galactose-bd-like,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Coagulation_fac_5/8-C_type_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors EDIL3 HGNC ENSG00000164176 tier1 - - 126 0 0.00 99 10 9.09 ENSG00000231242 0 genome.wustl.edu 37 9 69083073 69083073 + RNA SNP G G T TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 9 69083073 69083073 G T SNP ENSG00000231242 ENST00000412376 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-87H9.3 Clone_based_vega_gene ENSG00000231242 tier1 - - 20 0 0.00 4 4 50.00 FOXO1 0 genome.wustl.edu 37 13 41134954 41134954 + Missense_Mutation SNP C C T TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 13 41134954 41134954 C T SNP FOXO1 ENST00000379561 human ensembl 74_37 -1 known missense c.674 p.R225H 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXO1 HGNC ENSG00000150907 tier1 - - 74 0 0.00 57 8 12.31 FREM2 0 genome.wustl.edu 37 13 39433691 39433691 + Missense_Mutation SNP C C T TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 13 39433691 39433691 C T SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known missense c.7483 p.L2495F 1.000 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 tier1 - - 46 0 0.00 36 4 10.00 GTF2F2 0 genome.wustl.edu 37 13 45781539 45781540 + RNA INS - - T TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 13 45781539 45781540 - T INS GTF2F2 ENST00000494087 human ensembl 74_37 +1 known rna NULL NULL 0.003:0.001 - - - no_errors GTF2F2 HGNC ENSG00000188342 tier1 28 0 0.00 24 2 7.69 IFNLR1 0 genome.wustl.edu 37 1 24483696 24483696 + Missense_Mutation SNP G G A TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 1 24483696 24483696 G A SNP IFNLR1 ENST00000327535 human ensembl 74_37 -1 known missense c.1487 p.A496V 0.000 NULL superfamily_Fibronectin_type3 - no_errors IFNLR1 HGNC ENSG00000185436 73 0 0.00 59 4 6.35 KBTBD4 0 genome.wustl.edu 37 11 47594626 47594626 + Silent SNP G G A TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 11 47594626 47594626 G A SNP KBTBD4 ENST00000430070 human ensembl 74_37 -1 known silent c.1461 p.S487 1.000 NULL pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors KBTBD4 HGNC ENSG00000123444 74 0 0.00 60 4 6.25 KLHDC7A 0 genome.wustl.edu 37 1 18808875 18808875 + Missense_Mutation SNP G G A TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 1 18808875 18808875 G A SNP KLHDC7A ENST00000400664 human ensembl 74_37 +1 known missense c.1400 p.R467H 1.000 NULL pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC7A HGNC ENSG00000179023 tier1 - - 139 0 0.00 83 7 7.78 KPNA5 0 genome.wustl.edu 37 6 117053378 117053378 + Nonsense_Mutation SNP C C G TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 6 117053378 117053378 C G SNP KPNA5 ENST00000356348 human ensembl 74_37 +1 known nonsense c.1512 p.Y504* 1.000 superfamily_ARM-type_fold pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA5 HGNC ENSG00000196911 tier1 - - 137 0 0.00 88 8 8.33 LRRTM1 0 genome.wustl.edu 37 2 80530773 80530773 + Missense_Mutation SNP T T A TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 2 80530773 80530773 T A SNP LRRTM1 ENST00000295057 human ensembl 74_37 -1 known missense c.172 p.T58S 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM1 HGNC ENSG00000162951 tier1 - - 66 0 0.00 45 6 11.76 MED15 0 genome.wustl.edu 37 22 20918916 20918918 + In_Frame_Del DEL CAG CAG - TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 22 20918916 20918918 CAG - DEL MED15 ENST00000263205 human ensembl 74_37 +1 known in_frame_del c.631_633 p.Q214in_frame_del 0.552:0.544:0.569 pfam_Mediator_Med15_met pfam_Mediator_Med15_met - no_errors MED15 HGNC ENSG00000099917 tier1 26 0 0.00 21 3 12.50 MSN 0 genome.wustl.edu 37 X 64949405 64949405 + Missense_Mutation SNP C C T TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 X 64949405 64949405 C T SNP MSN ENST00000360270 human ensembl 74_37 +1 known missense c.298 p.R100C 1.000 pirsf_ERM,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain - no_errors MSN HGNC ENSG00000147065 tier1 - - 66 0 0.00 48 10 17.24 NDUFAF5 0 genome.wustl.edu 37 20 13797519 13797519 + Splice_Site SNP A A G TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 20 13797519 13797519 A G SNP NDUFAF5 ENST00000378106 human ensembl 74_37 +1 known splice_site c.863-2 e10-2 0.996 - - - no_errors NDUFAF5 HGNC ENSG00000101247 tier1 - - 62 0 0.00 52 5 8.77 NKAP 0 genome.wustl.edu 37 X 119059334 119059334 + Missense_Mutation SNP C C T TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 X 119059334 119059334 C T SNP NKAP ENST00000371410 human ensembl 74_37 -1 known missense c.1097 p.R366Q 1.000 pfam_DUF926 pfam_DUF926 - no_errors NKAP HGNC ENSG00000101882 tier1 - - 85 0 0.00 66 5 7.04 OR6C3 0 genome.wustl.edu 37 12 55726183 55726183 + Missense_Mutation SNP G G T TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 12 55726183 55726183 G T SNP OR6C3 ENST00000379667 human ensembl 74_37 +1 known missense c.699 p.K233N 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C3 HGNC ENSG00000205329 98 0 0.00 97 8 7.55 PCDH15 0 genome.wustl.edu 37 10 55626443 55626443 + Missense_Mutation SNP C C T TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 10 55626443 55626443 C T SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.3676 p.D1226N 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 tier1 - - 71 0 0.00 73 6 7.59 PCDHA13 0 genome.wustl.edu 37 5 140263929 140263929 + Silent SNP G G A TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 5 140263929 140263929 G A SNP PCDHA13 ENST00000289272 human ensembl 74_37 +1 known silent c.2076 p.A692 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA13 HGNC ENSG00000239389 tier1 - - 171 0 0.00 107 7 6.14 PI15 0 genome.wustl.edu 37 8 75737622 75737622 + Silent SNP A A G TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 8 75737622 75737622 A G SNP PI15 ENST00000260113 human ensembl 74_37 +1 known silent c.138 p.A46 0.393 NULL pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors PI15 HGNC ENSG00000137558 tier1 - - 160 0 0.00 116 17 12.69 POLB 0 genome.wustl.edu 37 8 42218839 42218839 + Missense_Mutation SNP G G A TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 8 42218839 42218839 G A SNP POLB ENST00000265421 human ensembl 74_37 +1 known missense c.577 p.V193I 1.000 smart_DNA-dir_DNA_pol_X,prints_DNA_pol_X_beta-like,prints_DNA_pol_X pfam_DNA_pol_lambd_fingers_domain,superfamily_DNA_pol_b-like_N,superfamily_DNA_pol_lambd_fingers_domain,smart_DNA-dir_DNA_pol_X,smart_Hlx-hairpin-Hlx_DNA-bd_motif,prints_DNA_pol_X_beta-like,prints_DNA_pol_X - no_errors POLB HGNC ENSG00000070501 tier1 - - 63 0 0.00 73 6 7.59 PRDM13 0 genome.wustl.edu 37 6 100062567 100062567 + Missense_Mutation SNP G G A TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 6 100062567 100062567 G A SNP PRDM13 ENST00000369215 human ensembl 74_37 +1 known missense c.2056 p.V686M 1.000 NULL smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM13 HGNC ENSG00000112238 tier1 - - 119 0 0.00 93 6 6.06 PRICKLE1 0 genome.wustl.edu 37 12 42853842 42853842 + Silent SNP G G A TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 12 42853842 42853842 G A SNP PRICKLE1 ENST00000345127 human ensembl 74_37 -1 known silent c.2265 p.Y755 0.001 NULL pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE1 HGNC ENSG00000139174 tier1 rs148989635 - 172 0 0.00 108 7 6.09 RBM19 0 genome.wustl.edu 37 12 114395810 114395810 + Missense_Mutation SNP G G A TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 12 114395810 114395810 G A SNP RBM19 ENST00000261741 human ensembl 74_37 -1 known missense c.617 p.S206L 0.995 NULL pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom - no_errors RBM19 HGNC ENSG00000122965 tier1 - - 149 0 0.00 91 8 8.00 SLITRK2 0 genome.wustl.edu 37 X 144905267 144905267 + Missense_Mutation SNP A A T TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 X 144905267 144905267 A T SNP SLITRK2 ENST00000370490 human ensembl 74_37 +1 known missense c.1324 p.M442L 0.997 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK2 HGNC ENSG00000185985 tier1 - - 134 0 0.00 108 12 10.00 SNCAIP 0 genome.wustl.edu 37 5 121787028 121787028 + Missense_Mutation SNP G G A TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 5 121787028 121787028 G A SNP SNCAIP ENST00000379533 human ensembl 74_37 +1 known missense c.2627 p.S876N 0.051 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors SNCAIP HGNC ENSG00000064692 tier1 - - 95 0 0.00 67 7 9.46 STAC 0 genome.wustl.edu 37 3 36485104 36485104 + Silent SNP C C T TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 3 36485104 36485104 C T SNP STAC ENST00000273183 human ensembl 74_37 +1 known silent c.360 p.F120 1.000 pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd 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 tier1 - - 195 0 0.00 138 10 6.76 STK16 0 genome.wustl.edu 37 2 220113186 220113186 + Missense_Mutation SNP G G A TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 2 220113186 220113186 G A SNP STK16 ENST00000396738 human ensembl 74_37 +1 known missense c.823 p.V275M 1.000 pfam_Prot_kinase_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_dom pfam_Prot_kinase_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_dom - no_errors STK16 HGNC ENSG00000115661 tier1 - - 124 0 0.00 117 7 5.65 SYNGAP1 0 genome.wustl.edu 37 6 33405587 33405587 + Missense_Mutation SNP C C T TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 6 33405587 33405587 C T SNP SYNGAP1 ENST00000418600 human ensembl 74_37 +1 known missense c.905 p.S302F 0.723 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors SYNGAP1 HGNC ENSG00000197283 tier1 - - 93 0 0.00 95 5 5.00 TNS1 0 genome.wustl.edu 37 2 218712887 218712889 + In_Frame_Del DEL GCT GCT - TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 GCT GCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 2 218712887 218712889 GCT - DEL TNS1 ENST00000171887 human ensembl 74_37 -1 known in_frame_del c.1978_1976 p.Q659in_frame_del 1.000:1.000:0.994 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC ENSG00000079308 tier1 32 0 0.00 26 3 10.34 TRIP12 0 genome.wustl.edu 37 2 230723955 230723955 + Missense_Mutation SNP C C T TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 2 230723955 230723955 C T SNP TRIP12 ENST00000283943 human ensembl 74_37 -1 known missense c.434 p.R145Q 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom - no_errors TRIP12 HGNC ENSG00000153827 tier1 - - 164 0 0.00 133 10 6.94 UNC5D 0 genome.wustl.edu 37 8 35453085 35453085 + Missense_Mutation SNP C C G TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 8 35453085 35453085 C G SNP UNC5D ENST00000404895 human ensembl 74_37 +1 known missense c.480 p.N160K 1.000 pfam_Ig_I-set pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death_domain,pfam_Immunoglobulin,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5D HGNC ENSG00000156687 tier1 - - 203 0 0.00 147 8 5.16 VPS54 0 genome.wustl.edu 37 2 64147076 64147076 + Missense_Mutation SNP T T C TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 2 64147076 64147076 T C SNP VPS54 ENST00000272322 human ensembl 74_37 -1 known missense c.2105 p.Q702R 1.000 NULL pfam_Vps54,pfam_Vacuolar_sorting-assoc_54 - no_errors VPS54 HGNC ENSG00000143952 tier1 - - 49 0 0.00 55 5 8.33 ZMAT1 0 genome.wustl.edu 37 X 101138438 101138439 + RNA INS - - T TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 X 101138438 101138439 - T INS ZMAT1 ENST00000494068 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors ZMAT1 HGNC ENSG00000166432 tier1 24 0 0.00 17 2 10.53 ZNF221 0 genome.wustl.edu 37 19 44470307 44470307 + Missense_Mutation SNP G G A TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 19 44470307 44470307 G A SNP ZNF221 ENST00000251269 human ensembl 74_37 +1 known missense c.653 p.R218K 0.902 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 ZNF221 HGNC ENSG00000159905 tier1 - - 230 0 0.00 207 11 5.05 ACTL8 0 genome.wustl.edu 37 1 18152626 18152626 + Missense_Mutation SNP A A G TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 1 18152626 18152626 A G SNP ACTL8 ENST00000375406 human ensembl 74_37 +1 known missense c.713 p.Y238C 0.396 pfam_Actin-related,smart_Actin-related,prints_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL8 HGNC ENSG00000117148 108 0 0 69 10 12.6582 KLHDC7A 0 genome.wustl.edu 37 1 18808875 18808875 + Missense_Mutation SNP G G A TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 1 18808875 18808875 G A SNP KLHDC7A ENST00000400664 human ensembl 74_37 +1 known missense c.1400 p.R467H 1.000 NULL pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC7A HGNC ENSG00000179023 127 0 0 76 5 6.17284 HSPG2 0 genome.wustl.edu 37 1 22168592 22168592 + Silent SNP G G A TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 1 22168592 22168592 G A SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known silent c.9096 p.T3032 0.912 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 51 0 0 39 3 7.14286 IFNLR1 0 genome.wustl.edu 37 1 24483696 24483696 + Missense_Mutation SNP G G A TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 1 24483696 24483696 G A SNP IFNLR1 ENST00000327535 human ensembl 74_37 -1 known missense c.1487 p.A496V 0.000 NULL superfamily_Fibronectin_type3 - no_errors IFNLR1 HGNC ENSG00000185436 70 0 0 57 4 6.55738 CPXM2 0 genome.wustl.edu 37 10 125539747 125539747 + Missense_Mutation SNP C C T TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 10 125539747 125539747 C T SNP CPXM2 ENST00000241305 human ensembl 74_37 -1 known missense c.914 p.R305Q 1.000 NULL 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 CPXM2 HGNC ENSG00000121898 147 0 0 107 7 6.14035 PCDH15 0 genome.wustl.edu 37 10 55626443 55626443 + Missense_Mutation SNP C C T TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 10 55626443 55626443 C T SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.3676 p.D1226N 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 67 0 0 66 5 7.04225 DUPD1 0 genome.wustl.edu 37 10 76797677 76797677 + Missense_Mutation SNP G G A TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 10 76797677 76797677 G A SNP DUPD1 ENST00000338487 human ensembl 74_37 -1 known missense c.580 p.R194W 0.999 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP_famA,prints_Atypical_DUSP - no_errors DUPD1 HGNC ENSG00000188716 89 0 0 92 8 8 API5 0 genome.wustl.edu 37 11 43342466 43342466 + Splice_Site SNP T T G TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 11 43342466 43342466 T G SNP API5 ENST00000531273 human ensembl 74_37 +1 known splice_site c.325+2 e3+2 1.000 - - - no_errors API5 HGNC ENSG00000166181 79 0 0 45 3 6.25 KBTBD4 0 genome.wustl.edu 37 11 47594626 47594626 + Silent SNP G G A TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 11 47594626 47594626 G A SNP KBTBD4 ENST00000430070 human ensembl 74_37 -1 known silent c.1461 p.S487 1.000 NULL pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors KBTBD4 HGNC ENSG00000123444 66 0 0 51 4 7.27273 AMOTL1 0 genome.wustl.edu 37 11 94532866 94532866 + Silent SNP G G A TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 11 94532866 94532866 G A SNP AMOTL1 ENST00000433060 human ensembl 74_37 +1 known silent c.510 p.T170 1.000 NULL pfam_Angiomotin_C,prints_Angiomotin - no_errors AMOTL1 HGNC ENSG00000166025 35 0 0 37 3 7.5 RBM19 0 genome.wustl.edu 37 12 114395810 114395810 + Missense_Mutation SNP G G A TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 12 114395810 114395810 G A SNP RBM19 ENST00000261741 human ensembl 74_37 -1 known missense c.617 p.S206L 0.995 NULL pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom - no_errors RBM19 HGNC ENSG00000122965 132 0 0 85 8 8.60215 PRICKLE1 0 genome.wustl.edu 37 12 42853842 42853842 + Silent SNP G G A TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 12 42853842 42853842 G A SNP PRICKLE1 ENST00000345127 human ensembl 74_37 -1 known silent c.2265 p.Y755 0.001 NULL pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE1 HGNC ENSG00000139174 154 0 0 97 7 6.73077 OR6C3 0 genome.wustl.edu 37 12 55726183 55726183 + Missense_Mutation SNP G G T TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 12 55726183 55726183 G T SNP OR6C3 ENST00000379667 human ensembl 74_37 +1 known missense c.699 p.K233N 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C3 HGNC ENSG00000205329 90 0 0 88 8 8.33333 FREM2 0 genome.wustl.edu 37 13 39433691 39433691 + Missense_Mutation SNP C C T TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 13 39433691 39433691 C T SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known missense c.7483 p.L2495F 1.000 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 43 0 0 34 4 10.5263 FOXO1 0 genome.wustl.edu 37 13 41134954 41134954 + Missense_Mutation SNP C C T TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 13 41134954 41134954 C T SNP FOXO1 ENST00000379561 human ensembl 74_37 -1 known missense c.674 p.R225H 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXO1 HGNC ENSG00000150907 70 0 0 53 7 11.6667 CCDC33 0 genome.wustl.edu 37 15 74625112 74625112 + Missense_Mutation SNP G G A TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 15 74625112 74625112 G A SNP CCDC33 ENST00000321288 human ensembl 74_37 +1 known missense c.2473 p.A825T 0.076 NULL pfam_C2_dom,superfamily_C2_dom - no_errors CCDC33 HGNC ENSG00000140481 140 0 0 121 7 5.46875 CDH1 0 genome.wustl.edu 37 16 68845617 68845617 + Missense_Mutation SNP A A T TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 16 68845617 68845617 A T SNP CDH1 ENST00000261769 human ensembl 74_37 +1 known missense c.863 p.D288V 0.991 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 116 0 0 73 9 10.9756 ANKRD12 0 genome.wustl.edu 37 18 9256666 9256666 + Missense_Mutation SNP A A G TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 18 9256666 9256666 A G SNP ANKRD12 ENST00000262126 human ensembl 74_37 +1 known missense c.3401 p.K1134R 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ENSG00000101745 103 0 0 69 6 8 ZNF221 0 genome.wustl.edu 37 19 44470307 44470307 + Missense_Mutation SNP G G A TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 19 44470307 44470307 G A SNP ZNF221 ENST00000251269 human ensembl 74_37 +1 known missense c.653 p.R218K 0.902 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 ZNF221 HGNC ENSG00000159905 202 0 0 187 11 5.55556 STRN4 0 genome.wustl.edu 37 19 47231908 47231908 + Missense_Mutation SNP G G A TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 19 47231908 47231908 G A SNP STRN4 ENST00000391910 human ensembl 74_37 -1 known missense c.1006 p.R336W 0.989 NULL pfam_WD40_repeat,pfam_Striatin_N,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors STRN4 HGNC ENSG00000090372 47 0 0 64 6 8.57143 APOB 0 genome.wustl.edu 37 2 21227307 21227307 + Missense_Mutation SNP G G A TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 2 21227307 21227307 G A SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.11921 p.A3974V 0.000 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 128 0 0 74 7 8.64198 STK16 0 genome.wustl.edu 37 2 220113186 220113186 + Missense_Mutation SNP G G A TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 2 220113186 220113186 G A SNP STK16 ENST00000396738 human ensembl 74_37 +1 known missense c.823 p.V275M 1.000 pfam_Prot_kinase_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_dom pfam_Prot_kinase_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_dom - no_errors STK16 HGNC ENSG00000115661 113 0 0 104 7 6.30631 TRIP12 0 genome.wustl.edu 37 2 230723955 230723955 + Missense_Mutation SNP C C T TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 2 230723955 230723955 C T SNP TRIP12 ENST00000283943 human ensembl 74_37 -1 known missense c.434 p.R145Q 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom - no_errors TRIP12 HGNC ENSG00000153827 160 0 0 131 10 7.0922 OR6B3 0 genome.wustl.edu 37 2 240984687 240984687 + Missense_Mutation SNP C C T TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 2 240984687 240984687 C T SNP OR6B3 ENST00000319423 human ensembl 74_37 -1 known missense c.803 p.R268Q 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6B3 HGNC ENSG00000178586 167 1 0.595238 130 9 6.47482 LRRTM1 0 genome.wustl.edu 37 2 80530773 80530773 + Missense_Mutation SNP T T A TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 2 80530773 80530773 T A SNP LRRTM1 ENST00000295057 human ensembl 74_37 -1 known missense c.172 p.T58S 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM1 HGNC ENSG00000162951 66 0 0 44 5 10.2041 NDUFAF5 0 genome.wustl.edu 37 20 13797519 13797519 + Splice_Site SNP A A G TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 20 13797519 13797519 A G SNP NDUFAF5 ENST00000378106 human ensembl 74_37 +1 known splice_site c.863-2 e10-2 0.996 - - - no_errors NDUFAF5 HGNC ENSG00000101247 57 0 0 46 4 8 MN1 0 genome.wustl.edu 37 22 28194930 28194930 + Silent SNP C C T TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 22 28194930 28194930 C T SNP MN1 ENST00000302326 human ensembl 74_37 -1 known silent c.1602 p.Q534 0.996 NULL NULL - no_errors MN1 HGNC ENSG00000169184 11 0 0 8 3 27.2727 BBX 0 genome.wustl.edu 37 3 107435614 107435614 + Missense_Mutation SNP G G A TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 3 107435614 107435614 G A SNP BBX ENST00000325805 human ensembl 74_37 +1 known missense c.323 p.R108Q 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_TF_HMG_box_BBX_DUF2028,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors BBX HGNC ENSG00000114439 147 0 0 136 11 7.48299 ANKRD28 0 genome.wustl.edu 37 3 15752776 15752776 + Missense_Mutation SNP C C T TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 3 15752776 15752776 C T SNP ANKRD28 ENST00000383777 human ensembl 74_37 -1 known missense c.1288 p.D430N 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD28 HGNC ENSG00000206560 62 0 0 47 6 11.3208 STAC 0 genome.wustl.edu 37 3 36485104 36485104 + Silent SNP C C T TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 3 36485104 36485104 C T SNP STAC ENST00000273183 human ensembl 74_37 +1 known silent c.360 p.F120 1.000 pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd 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 168 0 0 120 10 7.69231 SNCAIP 0 genome.wustl.edu 37 5 121787028 121787028 + Missense_Mutation SNP G G A TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 5 121787028 121787028 G A SNP SNCAIP ENST00000379533 human ensembl 74_37 +1 known missense c.2627 p.S876N 0.051 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors SNCAIP HGNC ENSG00000064692 94 0 0 64 7 9.85915 FSTL4 0 genome.wustl.edu 37 5 132585191 132585191 + Missense_Mutation SNP T T G TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 5 132585191 132585191 T G SNP FSTL4 ENST00000265342 human ensembl 74_37 -1 known missense c.805 p.T269P 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Kazal_dom,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL4 HGNC ENSG00000053108 56 0 0 42 3 6.66667 PCDHA13 0 genome.wustl.edu 37 5 140263929 140263929 + Silent SNP G G A TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 5 140263929 140263929 G A SNP PCDHA13 ENST00000289272 human ensembl 74_37 +1 known silent c.2076 p.A692 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA13 HGNC ENSG00000239389 152 0 0 102 7 6.42202 EDIL3 0 genome.wustl.edu 37 5 83433075 83433075 + Silent SNP T T G TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 5 83433075 83433075 T G SNP EDIL3 ENST00000296591 human ensembl 74_37 -1 known silent c.453 p.G151 1.000 pfam_EGF_extracell,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,pfam_EGF_extracell,superfamily_Galactose-bd-like,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Coagulation_fac_5/8-C_type_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors EDIL3 HGNC ENSG00000164176 116 0 0 91 10 9.90099 PRDM13 0 genome.wustl.edu 37 6 100062567 100062567 + Missense_Mutation SNP G G A TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 6 100062567 100062567 G A SNP PRDM13 ENST00000369215 human ensembl 74_37 +1 known missense c.2056 p.V686M 1.000 NULL smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM13 HGNC ENSG00000112238 103 0 0 83 5 5.68182 LIN28B 0 genome.wustl.edu 37 6 105474282 105474282 + Missense_Mutation SNP G G T TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 6 105474282 105474282 G T SNP LIN28B ENST00000345080 human ensembl 74_37 +1 known missense c.308 p.G103V 1.000 superfamily_NA-bd_OB-fold pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,superfamily_Znf_CCHC,smart_Cold_shock_prot,smart_Znf_CCHC,pfscan_Znf_CCHC,prints_CSP_DNA-bd - no_errors LIN28B HGNC ENSG00000187772 241 0 0 163 10 5.78035 KPNA5 0 genome.wustl.edu 37 6 117053378 117053378 + Nonsense_Mutation SNP C C G TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 6 117053378 117053378 C G SNP KPNA5 ENST00000356348 human ensembl 74_37 +1 known nonsense c.1512 p.Y504* 1.000 superfamily_ARM-type_fold pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA5 HGNC ENSG00000196911 111 0 0 80 7 8.04598 SYNGAP1 0 genome.wustl.edu 37 6 33405587 33405587 + Missense_Mutation SNP C C T TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 6 33405587 33405587 C T SNP SYNGAP1 ENST00000418600 human ensembl 74_37 +1 known missense c.905 p.S302F 0.723 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors SYNGAP1 HGNC ENSG00000197283 89 0 0 88 5 5.37634 MYOM2 0 genome.wustl.edu 37 8 2040209 2040209 + Nonsense_Mutation SNP C C T TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 8 2040209 2040209 C T SNP MYOM2 ENST00000262113 human ensembl 74_37 +1 known nonsense c.1864 p.R622* 0.999 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM2 HGNC ENSG00000036448 303 1 0.328947 236 15 5.9761 UNC5D 0 genome.wustl.edu 37 8 35453085 35453085 + Missense_Mutation SNP C C G TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 8 35453085 35453085 C G SNP UNC5D ENST00000404895 human ensembl 74_37 +1 known missense c.480 p.N160K 1.000 pfam_Ig_I-set pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death_domain,pfam_Immunoglobulin,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5D HGNC ENSG00000156687 181 0 0 127 7 5.22388 POLB 0 genome.wustl.edu 37 8 42218839 42218839 + Missense_Mutation SNP G G A TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 8 42218839 42218839 G A SNP POLB ENST00000265421 human ensembl 74_37 +1 known missense c.577 p.V193I 1.000 smart_DNA-dir_DNA_pol_X,prints_DNA_pol_X_beta-like,prints_DNA_pol_X pfam_DNA_pol_lambd_fingers_domain,superfamily_DNA_pol_b-like_N,superfamily_DNA_pol_lambd_fingers_domain,smart_DNA-dir_DNA_pol_X,smart_Hlx-hairpin-Hlx_DNA-bd_motif,prints_DNA_pol_X_beta-like,prints_DNA_pol_X - no_errors POLB HGNC ENSG00000070501 55 0 0 59 5 7.8125 PI15 0 genome.wustl.edu 37 8 75737622 75737622 + Silent SNP A A G TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 8 75737622 75737622 A G SNP PI15 ENST00000260113 human ensembl 74_37 +1 known silent c.138 p.A46 0.393 NULL pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors PI15 HGNC ENSG00000137558 146 0 0 108 15 12.1951 NKAP 0 genome.wustl.edu 37 X 119059334 119059334 + Missense_Mutation SNP C C T TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 X 119059334 119059334 C T SNP NKAP ENST00000371410 human ensembl 74_37 -1 known missense c.1097 p.R366Q 1.000 pfam_DUF926 pfam_DUF926 - no_errors NKAP HGNC ENSG00000101882 78 0 0 60 4 6.25 SLITRK2 0 genome.wustl.edu 37 X 144905267 144905267 + Missense_Mutation SNP A A T TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 X 144905267 144905267 A T SNP SLITRK2 ENST00000370490 human ensembl 74_37 +1 known missense c.1324 p.M442L 0.997 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK2 HGNC ENSG00000185985 126 0 0 100 9 8.25688 CACNA1F 0 genome.wustl.edu 37 X 49079193 49079193 + Silent SNP G G A TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 X 49079193 49079193 G A SNP CACNA1F ENST00000376265 human ensembl 74_37 -1 known silent c.2223 p.L741 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1F HGNC ENSG00000102001 24 0 0 22 5 18.5185 MSN 0 genome.wustl.edu 37 X 64949405 64949405 + Missense_Mutation SNP C C T TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 X 64949405 64949405 C T SNP MSN ENST00000360270 human ensembl 74_37 +1 known missense c.298 p.R100C 1.000 pirsf_ERM,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain - no_errors MSN HGNC ENSG00000147065 58 0 0 45 8 15.0943 TXLNG2P 0 genome.wustl.edu 37 Y 21758039 21758039 + RNA DEL A A - TCGA-MX-A5UG-01A-21D-A31L-08 TCGA-MX-A5UG-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 47ab3ebb-e0db-4399-9313-57c26ef179a1 9ba24d7a-1029-4c27-a9b3-3745a41d39a6 Y 21758039 21758039 A - DEL TXLNG2P ENST00000253320 human ensembl 74_37 +1 known rna NULL NULL 0.012 - - - no_errors TXLNG2P HGNC ENSG00000131002 10 0 0 7 2 22.2222