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 ABCA17P 650655 genome.wustl.edu 37 16 2460230 2460230 + RNA SNP G G C TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 16 2460230 2460230 G C SNP ABCA17P ENST00000469908 human ensembl 70_37 +1 known rna NULL NULL 0.017 - - - no_errors ABCA17P HGNC ABCD3 5825 genome.wustl.edu 37 1 94984053 94984053 + RNA DEL A A - TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 1 94984053 94984053 A - DEL ABCD3 ENST00000484213 human ensembl 70_37 +1 known rna NULL NULL 0.959 - - - no_errors ABCD3 HGNC ABL1 25 genome.wustl.edu 37 9 133759592 133759592 + Nonsense_Mutation SNP C C T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 9 133759592 133759592 C T SNP ABL1 ENST00000372348 human ensembl 70_37 +1 known nonsense c.1972 p.R658* 0.910 NULL pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ABL1 HGNC ACAN 176 genome.wustl.edu 37 15 89401545 89401545 + Missense_Mutation SNP G G A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 15 89401545 89401545 G A SNP ACAN ENST00000439576 human ensembl 70_37 +1 known missense c.5729 p.R1910K 0.998 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link - no_errors ACAN HGNC ACSL5 51703 genome.wustl.edu 37 10 114171226 114171226 + Missense_Mutation SNP G G A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 10 114171226 114171226 G A SNP ACSL5 ENST00000356116 human ensembl 70_37 +1 known missense c.977 p.G326E 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSL5 HGNC ANKRD54 129138 genome.wustl.edu 37 22 38229154 38229154 + RNA SNP G G T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 22 38229154 38229154 G T SNP ANKRD54 ENST00000498417 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ANKRD54 HGNC APMAP 57136 genome.wustl.edu 37 20 24949580 24949580 + Missense_Mutation SNP G G T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 20 24949580 24949580 G T SNP APMAP ENST00000217456 human ensembl 70_37 -1 known missense c.989 p.S330Y 1.000 NULL pfam_Strictosidine_synth_cons-reg,pfam_SGL - no_errors APMAP HGNC ATRNL1 26033 genome.wustl.edu 37 10 117024752 117024752 + Silent SNP C C T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 10 117024752 117024752 C T SNP ATRNL1 ENST00000355044 human ensembl 70_37 +1 known silent c.1770 p.N590 1.000 pfam_Kelch_1 pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB,smart_Plexin-like,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRNL1 HGNC MISP 126353 genome.wustl.edu 37 19 759979 759979 + Silent SNP G G A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 19 759979 759979 G A SNP C19orf21 ENST00000215582 human ensembl 70_37 +1 known silent c.1851 p.A617 0.920 NULL NULL - no_errors C19orf21 HGNC MROH8 140699 genome.wustl.edu 37 20 35742515 35742515 + Missense_Mutation SNP G G C TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 20 35742515 35742515 G C SNP C20orf132 ENST00000400441 human ensembl 70_37 -1 known missense c.2569 p.L857V 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors C20orf132 HGNC CABIN1 23523 genome.wustl.edu 37 22 24562874 24562874 + Nonsense_Mutation SNP G G T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 22 24562874 24562874 G T SNP CABIN1 ENST00000263119 human ensembl 70_37 +1 known nonsense c.5275 p.E1759* 0.999 NULL pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CABIN1 HGNC CAPZA3 93661 genome.wustl.edu 37 12 18891779 18891779 + Missense_Mutation SNP G G T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 12 18891779 18891779 G T SNP CAPZA3 ENST00000317658 human ensembl 70_37 +1 known missense c.577 p.A193S 1.000 pfam_WASH_F-actin_cap_alpha,prints_WASH_F-actin_cap_alpha pfam_WASH_F-actin_cap_alpha,prints_WASH_F-actin_cap_alpha - no_errors CAPZA3 HGNC CATSPER2P1 440278 genome.wustl.edu 37 15 44028956 44028956 + RNA SNP C C T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 15 44028956 44028956 C T SNP CATSPER2P1 ENST00000381680 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CATSPER2P1 HGNC CCDC64B 146439 genome.wustl.edu 37 16 3081097 3081097 + Missense_Mutation SNP C C T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 16 3081097 3081097 C T SNP CCDC64B ENST00000389347 human ensembl 70_37 -1 known missense c.337 p.E113K 0.998 NULL superfamily_Sig_transdc_His_kinase_dimeric - no_errors CCDC64B HGNC CD47 961 genome.wustl.edu 37 3 107762965 107762965 + RNA SNP C C A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 3 107762965 107762965 C A SNP CD47 ENST00000471694 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors CD47 HGNC CDH11 1009 genome.wustl.edu 37 16 65022216 65022216 + Silent SNP G G A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 16 65022216 65022216 G A SNP CDH11 ENST00000268603 human ensembl 70_37 -1 known silent c.843 p.A281 0.984 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC CDK2 1017 genome.wustl.edu 37 12 56365574 56365574 + RNA SNP G G T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 12 56365574 56365574 G T SNP CDK2 ENST00000554545 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CDK2 HGNC COL12A1 1303 genome.wustl.edu 37 6 75893849 75893849 + Missense_Mutation SNP G G A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 6 75893849 75893849 G A SNP COL12A1 ENST00000322507 human ensembl 70_37 -1 known missense c.1009 p.P337S 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC CREB1 1385 genome.wustl.edu 37 2 208461841 208461841 + RNA SNP G G A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 2 208461841 208461841 G A SNP CREB1 ENST00000494983 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CREB1 HGNC CSMD1 64478 genome.wustl.edu 37 8 3081281 3081281 + Missense_Mutation SNP G G A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 8 3081281 3081281 G A SNP CSMD1 ENST00000520002 human ensembl 70_37 -1 known missense c.4457 p.P1486L 0.999 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC CUEDC2 79004 genome.wustl.edu 37 10 104183034 104183034 + RNA SNP G G A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 10 104183034 104183034 G A SNP CUEDC2 ENST00000465409 human ensembl 70_37 -1 known rna NULL NULL 0.501 - - - no_errors CUEDC2 HGNC DAO 1610 genome.wustl.edu 37 12 109277522 109277522 + RNA SNP G G A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 12 109277522 109277522 G A SNP DAO ENST00000548052 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors DAO HGNC DCHS2 54798 genome.wustl.edu 37 4 155180783 155180783 + Missense_Mutation SNP C C T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 4 155180783 155180783 C T SNP DCHS2 ENST00000357232 human ensembl 70_37 -1 known missense c.5338 p.E1780K 0.656 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 DENND1A 57706 genome.wustl.edu 37 9 126150025 126150025 + Missense_Mutation SNP A A G TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 9 126150025 126150025 A G SNP DENND1A ENST00000394219 human ensembl 70_37 -1 known missense c.1594 p.S532P 1.000 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 DENND1A HGNC DHX36 170506 genome.wustl.edu 37 3 154018864 154018864 + Nonsense_Mutation SNP G G A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 3 154018864 154018864 G A SNP DHX36 ENST00000496811 human ensembl 70_37 -1 known nonsense c.1270 p.Q424* 1.000 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX36 HGNC DNAH8 1769 genome.wustl.edu 37 6 38919178 38919178 + Missense_Mutation SNP C C G TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 6 38919178 38919178 C G SNP DNAH8 ENST00000359357 human ensembl 70_37 +1 known missense c.11682 p.I3894M 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH8 HGNC EIF3G 8666 genome.wustl.edu 37 19 10230374 10230374 + Missense_Mutation SNP G G A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 19 10230374 10230374 G A SNP EIF3G ENST00000253108 human ensembl 70_37 -1 known missense c.23 p.S8L 1.000 pirsf_Transl_init_eIF-3_G pfam_eIF3g_N,pfam_RRM_dom,smart_RRM_dom,pirsf_Transl_init_eIF-3_G,pfscan_RRM_dom - no_errors EIF3G HGNC ENSG00000216127 0 genome.wustl.edu 37 5 171866677 171866677 + RNA SNP T T C TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 5 171866677 171866677 T C SNP ENSG00000216127 ENST00000401308 human ensembl 70_37 -1 novel rna NULL NULL 0.000 - - - no_errors AC011407.1 Clone_based_ensembl_gene ENSG00000223804 0 genome.wustl.edu 37 1 143744596 143744596 + RNA SNP C C T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 1 143744596 143744596 C T SNP ENSG00000223804 ENST00000440862 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors BX284650.1 Clone_based_vega_gene ENSG00000224897 0 genome.wustl.edu 37 7 124783047 124783047 + RNA SNP C C A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 7 124783047 124783047 C A SNP ENSG00000224897 ENST00000449642 human ensembl 70_37 +1 known rna NULL NULL 0.059 - - - no_errors RP11-3B12.1 Clone_based_vega_gene ENSG00000267161 0 genome.wustl.edu 37 19 1574848 1574848 + RNA SNP G G A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 19 1574848 1574848 G A SNP ENSG00000267161 ENST00000588960 human ensembl 70_37 -1 known rna NULL NULL 0.006 - - - no_errors AC005943.5 Clone_based_vega_gene EPRS 2058 genome.wustl.edu 37 1 220151900 220151900 + Missense_Mutation SNP G G T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 1 220151900 220151900 G T SNP EPRS ENST00000366923 human ensembl 70_37 -1 known missense c.4071 p.H1357Q 1.000 pfam_Anticodon-bd,superfamily_Anticodon-bd,tigrfam_Pro-tRNA-ligase_IIa_arc-type pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_ligase_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_ligase_II_C,prints_Glu/Gln-tRNA-synth_Ib,prints_Pro-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-ligase_IIa_arc-type,tigrfam_Glu-tRNA-synth_Ib_arc/euk - no_errors EPRS HGNC EPRS 2058 genome.wustl.edu 37 1 220197645 220197645 + Missense_Mutation SNP C C T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 1 220197645 220197645 C T SNP EPRS ENST00000366923 human ensembl 70_37 -1 known missense c.904 p.E302K 1.000 pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,tigrfam_Glu-tRNA-synth_Ib_arc/euk pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_ligase_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_ligase_II_C,prints_Glu/Gln-tRNA-synth_Ib,prints_Pro-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-ligase_IIa_arc-type,tigrfam_Glu-tRNA-synth_Ib_arc/euk - no_errors EPRS HGNC FAM13C 220965 genome.wustl.edu 37 10 61028333 61028333 + Missense_Mutation SNP C C G TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 10 61028333 61028333 C G SNP FAM13C ENST00000373868 human ensembl 70_37 -1 known missense c.922 p.E308Q 1.000 NULL NULL - no_errors FAM13C HGNC FAT1 2195 genome.wustl.edu 37 4 187531024 187531025 + Frame_Shift_Del DEL AG AG - TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 4 187531024 187531025 AG - DEL FAT1 ENST00000441802 human ensembl 70_37 -1 known frame_shift_del c.9999_9998 p.P3333fs 0.024:1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT1 HGNC FBXL13 222235 genome.wustl.edu 37 7 102604086 102604086 + Silent SNP C C T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 7 102604086 102604086 C T SNP FBXL13 ENST00000313221 human ensembl 70_37 -1 known silent c.618 p.V206 0.000 NULL smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like - no_errors FBXL13 HGNC FBXL20 84961 genome.wustl.edu 37 17 37557641 37557641 + Silent SNP C C T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 17 37557641 37557641 C T SNP FBXL20 ENST00000264658 human ensembl 70_37 -1 known silent c.15 p.V5 1.000 NULL pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like - no_errors FBXL20 HGNC FCGR2A 2212 genome.wustl.edu 37 1 161479832 161479832 + Missense_Mutation SNP T T A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 1 161479832 161479832 T A SNP FCGR2A ENST00000271450 human ensembl 70_37 +1 known missense c.587 p.F196Y 0.000 smart_Ig_sub,pfscan_Ig-like smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCGR2A HGNC FOLH1 2346 genome.wustl.edu 37 11 49204790 49204790 + Silent SNP A A G TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 11 49204790 49204790 A G SNP FOLH1 ENST00000256999 human ensembl 70_37 -1 known silent c.831 p.Y277 1.000 NULL pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom - no_errors FOLH1 HGNC GBF1 8729 genome.wustl.edu 37 10 104123068 104123068 + Silent SNP C C T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 10 104123068 104123068 C T SNP GBF1 ENST00000369983 human ensembl 70_37 +1 known silent c.1929 p.G643 1.000 NULL pfam_Sec7,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors GBF1 HGNC GPR133 283383 genome.wustl.edu 37 12 131487803 131487803 + Missense_Mutation SNP G G C TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 12 131487803 131487803 G C SNP GPR133 ENST00000261654 human ensembl 70_37 +1 known missense c.1100 p.G367A 0.002 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR133 HGNC HTR1A 3350 genome.wustl.edu 37 5 63257121 63257121 + Silent SNP G G A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 5 63257121 63257121 G A SNP HTR1A ENST00000323865 human ensembl 70_37 -1 known silent c.426 p.I142 0.707 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,prints_NPY_rcpt - no_errors HTR1A HGNC HTR1D 3352 genome.wustl.edu 37 1 23520071 23520071 + Silent SNP G G A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 1 23520071 23520071 G A SNP HTR1D ENST00000314113 human ensembl 70_37 -1 known silent c.642 p.I214 0.992 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT1D_rcpt,prints_5HT_rcpt - no_errors HTR1D HGNC ITPR1 3708 genome.wustl.edu 37 3 4753522 4753522 + Missense_Mutation SNP G G T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 3 4753522 4753522 G T SNP ITPR1 ENST00000302640 human ensembl 70_37 +1 known missense c.5028 p.M1676I 1.000 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC KDM5A 5927 genome.wustl.edu 37 12 463280 463280 + Missense_Mutation SNP G G T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 12 463280 463280 G T SNP KDM5A ENST00000399788 human ensembl 70_37 -1 known missense c.991 p.P331T 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5A HGNC KIAA0556 23247 genome.wustl.edu 37 16 27643924 27643924 + RNA SNP G G T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 16 27643924 27643924 G T SNP KIAA0556 ENST00000567894 human ensembl 70_37 +1 known rna NULL NULL 0.148 - - - no_errors KIAA0556 HGNC KRT84 3890 genome.wustl.edu 37 12 52771916 52771916 + Missense_Mutation SNP G G A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 12 52771916 52771916 G A SNP KRT84 ENST00000257951 human ensembl 70_37 -1 known missense c.1705 p.P569S 0.968 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT84 HGNC KRTAP1-3 81850 genome.wustl.edu 37 17 39190812 39190812 + Missense_Mutation SNP C C A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 17 39190812 39190812 C A SNP KRTAP1-3 ENST00000344363 human ensembl 70_37 -1 known missense c.262 p.G88C 0.514 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP1-3 HGNC KRTAP1-3 81850 genome.wustl.edu 37 17 39190875 39190875 + Nonsense_Mutation SNP C C A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 17 39190875 39190875 C A SNP KRTAP1-3 ENST00000344363 human ensembl 70_37 -1 known nonsense c.199 p.E67* 0.000 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP1-3 HGNC LAMTOR4 389541 genome.wustl.edu 37 7 99746570 99746570 + RNA SNP G G A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 7 99746570 99746570 G A SNP LAMTOR4 ENST00000460732 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors LAMTOR4 HGNC LNX2 222484 genome.wustl.edu 37 13 28122595 28122595 + Missense_Mutation SNP C C G TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 13 28122595 28122595 C G SNP LNX2 ENST00000316334 human ensembl 70_37 -1 known missense c.1950 p.M650I 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors LNX2 HGNC LPXN 9404 genome.wustl.edu 37 11 58322403 58322403 + Missense_Mutation SNP C C T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 11 58322403 58322403 C T SNP LPXN ENST00000528954 human ensembl 70_37 -1 known missense c.244 p.E82K 0.975 pirsf_Leupaxin pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM - no_errors LPXN HGNC MAGEB17 645864 genome.wustl.edu 37 X 16189073 16189073 + Silent SNP T T C TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 X 16189073 16189073 T C SNP MAGEB17 ENST00000400003 human ensembl 70_37 +1 known silent c.568 p.L190 0.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB17 HGNC MIR4485 100616263 genome.wustl.edu 37 MT 1747 1747 + RNA SNP G G A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 MT 1747 1747 G A SNP MIR4485 ENST00000387347 human ensembl 70_37 +1 known rna NULL NULL NULL - - - no_errors MIR4485 HGNC MPO 4353 genome.wustl.edu 37 17 56349079 56349079 + Missense_Mutation SNP C C T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 17 56349079 56349079 C T SNP MPO ENST00000340482 human ensembl 70_37 -1 known missense c.2063 p.R688H 1.000 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 MT-CO2 4513 genome.wustl.edu 37 MT 7637 7637 + Missense_Mutation SNP G G A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 MT 7637 7637 G A SNP MT-CO2 ENST00000361739 human ensembl 70_37 +1 known missense c.52 p.E18K NULL pfam_Cyt_c_oxidase_su2_TM_dom,superfamily_Cyt_c_oxidase_su2-like_TM_dom,pfscan_Cyt_c_oxidase_su2_TM_dom,tigrfam_Cyt_c_oxidase_su2 pfam_Cyt_c_oxidase_su2_C,pfam_Cyt_c_oxidase_su2_TM_dom,superfamily_Cupredoxin,superfamily_Cyt_c_oxidase_su2-like_TM_dom,pfscan_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_C,tigrfam_Cyt_c_oxidase_su2 - no_errors MT-CO2 HGNC MUC12 10071 genome.wustl.edu 37 7 100635238 100635238 + Missense_Mutation SNP C C T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 7 100635238 100635238 C T SNP MUC12 ENST00000379442 human ensembl 70_37 +1 known missense c.1823 p.S608L 0.000 NULL pfam_SEA - no_errors MUC12 HGNC MUC12 10071 genome.wustl.edu 37 7 100639210 100639211 + Frame_Shift_Ins INS - - A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 7 100639210 100639211 - A INS MUC12 ENST00000379442 human ensembl 70_37 +1 known frame_shift_ins c.5795_5796 p.A1933fs 0.000:0.000 NULL pfam_SEA - no_errors MUC12 HGNC MUC5B 727897 genome.wustl.edu 37 11 1272203 1272203 + Nonsense_Mutation SNP C C G TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 11 1272203 1272203 C G SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known nonsense c.14102 p.S4701* 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC MYRIP 25924 genome.wustl.edu 37 3 40275497 40275497 + Missense_Mutation SNP A A G TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 3 40275497 40275497 A G SNP MYRIP ENST00000302541 human ensembl 70_37 +1 known missense c.2053 p.T685A 0.995 pfam_Myrip/Melanophilin pfam_Myrip/Melanophilin,superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain - no_errors MYRIP HGNC NASP 4678 genome.wustl.edu 37 1 46079769 46079769 + Missense_Mutation SNP C C G TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 1 46079769 46079769 C G SNP NASP ENST00000402363 human ensembl 70_37 +1 known missense c.1514 p.S505C 0.995 NULL pfam_Tetratricopeptide_SHNi-TPR_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NASP HGNC NPEPPS 9520 genome.wustl.edu 37 17 45608750 45608750 + Silent SNP C C T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 17 45608750 45608750 C T SNP NPEPPS ENST00000322157 human ensembl 70_37 +1 known silent c.84 p.V28 1.000 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors NPEPPS HGNC NPRL2 10641 genome.wustl.edu 37 3 50386315 50386315 + Missense_Mutation SNP G G T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 3 50386315 50386315 G T SNP NPRL2 ENST00000232501 human ensembl 70_37 -1 known missense c.575 p.T192N 1.000 pfam_NPR2 pfam_NPR2 - no_errors NPRL2 HGNC NTRK1 4914 genome.wustl.edu 37 1 156849868 156849868 + Silent SNP C C T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 1 156849868 156849868 C T SNP NTRK1 ENST00000524377 human ensembl 70_37 +1 known silent c.2124 p.S708 0.974 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Cys-rich_flank_reg_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_neurotrophic_rcpt_1,prints_Tyr_kinase_NGF_rcpt - no_errors NTRK1 HGNC NXPE3 91775 genome.wustl.edu 37 3 101540356 101540356 + Missense_Mutation SNP G G A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 3 101540356 101540356 G A SNP NXPE3 ENST00000273347 human ensembl 70_37 +1 known missense c.1238 p.R413H 1.000 NULL pfam_NXPH/NXPE,superfamily_Ig_E-set - no_errors NXPE3 HGNC OBP2B 29989 genome.wustl.edu 37 9 136083256 136083256 + Silent SNP C C T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 9 136083256 136083256 C T SNP OBP2B ENST00000473737 human ensembl 70_37 -1 known silent c.354 p.L118 0.002 NULL pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_von_Ebner_gland - no_errors OBP2B HGNC OGDH 4967 genome.wustl.edu 37 7 44736558 44736558 + Missense_Mutation SNP G G A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 7 44736558 44736558 G A SNP OGDH ENST00000222673 human ensembl 70_37 +1 known missense c.1946 p.R649Q 1.000 pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDH HGNC OR12D3 81797 genome.wustl.edu 37 6 29342268 29342268 + Missense_Mutation SNP G G C TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 6 29342268 29342268 G C SNP OR12D3 ENST00000377143 human ensembl 70_37 -1 known missense c.797 p.S266C 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR12D3 HGNC OR5L2 26338 genome.wustl.edu 37 11 55595383 55595383 + Missense_Mutation SNP C C T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 11 55595383 55595383 C T SNP OR5L2 ENST00000378397 human ensembl 70_37 +1 known missense c.689 p.S230F 0.010 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5L2 HGNC PANK2 80025 genome.wustl.edu 37 20 3904042 3904042 + RNA SNP A A T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 20 3904042 3904042 A T SNP PANK2 ENST00000336066 human ensembl 70_37 +1 known rna NULL NULL 0.997 - - - no_errors PANK2 HGNC PCDH11X 27328 genome.wustl.edu 37 X 91873933 91873933 + Silent SNP C C T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 X 91873933 91873933 C T SNP PCDH11X ENST00000373094 human ensembl 70_37 +1 known silent c.4038 p.P1346 0.861 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC PCDHB13 56123 genome.wustl.edu 37 5 140594526 140594526 + Silent SNP G G A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 5 140594526 140594526 G A SNP PCDHB13 ENST00000341948 human ensembl 70_37 +1 known silent c.831 p.E277 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB13 HGNC PCSK6 5046 genome.wustl.edu 37 15 101872158 101872158 + Missense_Mutation SNP C C T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 15 101872158 101872158 C T SNP PCSK6 ENST00000348070 human ensembl 70_37 -1 known missense c.1934 p.R645H 0.998 NULL pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,pfam_PLAC,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,pfscan_PLAC,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK6 HGNC PHKA1 5255 genome.wustl.edu 37 X 71825220 71825220 + Nonsense_Mutation SNP G G A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 X 71825220 71825220 G A SNP PHKA1 ENST00000373539 human ensembl 70_37 -1 known nonsense c.2716 p.R906* 0.981 pfam_Glyco_hydro_15 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA1 HGNC PIWIL3 440822 genome.wustl.edu 37 22 25144974 25144974 + Missense_Mutation SNP C C T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 22 25144974 25144974 C T SNP PIWIL3 ENST00000332271 human ensembl 70_37 -1 known missense c.1349 p.R450Q 0.009 superfamily_RNaseH-like_dom pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors PIWIL3 HGNC POLN 353497 genome.wustl.edu 37 4 2160903 2160903 + Missense_Mutation SNP C C A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 4 2160903 2160903 C A SNP POLN ENST00000382865 human ensembl 70_37 -1 known missense c.1590 p.K530N 1.000 pfam_DNA-dir_DNA_pol_A_palm_dom pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA_polymerase_A - no_errors POLN HGNC PREPL 9581 genome.wustl.edu 37 2 44549013 44549013 + Missense_Mutation SNP C C G TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 2 44549013 44549013 C G SNP PREPL ENST00000260648 human ensembl 70_37 -1 known missense c.2047 p.D683H 1.000 pfam_Peptidase_S9 pfam_Peptidase_S9,pfam_Peptidase_S9A_B_C_N,superfamily_Peptidase_S9A_B_C_N,prints_Peptidase_S9A - no_errors PREPL HGNC PTX4 390667 genome.wustl.edu 37 16 1537463 1537463 + Missense_Mutation SNP G G C TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 16 1537463 1537463 G C SNP PTX4 ENST00000447419 human ensembl 70_37 -1 known missense c.650 p.S217C 0.000 NULL pfam_Pentaxin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors PTX4 HGNC PXN 5829 genome.wustl.edu 37 12 120652925 120652925 + Missense_Mutation SNP T T C TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 12 120652925 120652925 T C SNP PXN ENST00000267257 human ensembl 70_37 -1 known missense c.1127 p.K376R 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM,prints_Paxillin - no_errors PXN HGNC RBM10 8241 genome.wustl.edu 37 X 47040952 47040952 + Silent SNP G G A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 X 47040952 47040952 G A SNP RBM10 ENST00000377604 human ensembl 70_37 +1 known silent c.1482 p.Q494 1.000 NULL pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM10 HGNC RGL1 23179 genome.wustl.edu 37 1 183891454 183891454 + Silent SNP C C G TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 1 183891454 183891454 C G SNP RGL1 ENST00000304685 human ensembl 70_37 +1 known silent c.2208 p.V736 1.000 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RGL1 HGNC ROR2 4920 genome.wustl.edu 37 9 94493270 94493270 + Missense_Mutation SNP C C T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 9 94493270 94493270 C T SNP ROR2 ENST00000375708 human ensembl 70_37 -1 known missense c.1105 p.G369R 0.998 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pirsf_Tyr_kinase_rcpt_ROR,pfscan_Kringle pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_rcpt_ROR,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROR2 HGNC SCNN1D 6339 genome.wustl.edu 37 1 1221594 1221594 + Missense_Mutation SNP G G T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 1 1221594 1221594 G T SNP SCNN1D ENST00000379116 human ensembl 70_37 +1 known missense c.847 p.V283F 0.000 pfam_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,superfamily_FH2_actin-bd,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1D HGNC SDF2 6388 genome.wustl.edu 37 17 26989106 26989106 + RNA SNP C C A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 17 26989106 26989106 C A SNP SDF2 ENST00000585749 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors SDF2 HGNC SH3RF2 153769 genome.wustl.edu 37 5 145317770 145317770 + Silent SNP G G T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 5 145317770 145317770 G T SNP SH3RF2 ENST00000359120 human ensembl 70_37 +1 known silent c.279 p.T93 0.320 NULL pfam_SH3_2,pfam_SH3_domain,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_SH3_domain - no_errors SH3RF2 HGNC SIRPB1 10326 genome.wustl.edu 37 20 1559191 1559191 + Missense_Mutation SNP C C T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 20 1559191 1559191 C T SNP SIRPB1 ENST00000381605 human ensembl 70_37 -1 known missense c.226 p.E76K 0.000 pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_C1-set,pfscan_Ig-like - no_errors SIRPB1 HGNC SPDYE3 441272 genome.wustl.edu 37 7 99917593 99917593 + Missense_Mutation SNP G G A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 7 99917593 99917593 G A SNP SPDYE3 ENST00000332397 human ensembl 70_37 +1 known missense c.1630 p.D544N 0.025 pfam_Cell_cycle_regulatory_Spy1 pfam_Cell_cycle_regulatory_Spy1 - no_errors SPDYE3 HGNC SUPT3H 8464 genome.wustl.edu 37 6 44988298 44988298 + Silent SNP C C T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 6 44988298 44988298 C T SNP SUPT3H ENST00000371460 human ensembl 70_37 -1 known silent c.291 p.L97 1.000 pfam_TFIID-18 pfam_TFIID-18,superfamily_Histone-fold - no_errors SUPT3H HGNC SYNE1 23345 genome.wustl.edu 37 6 152763321 152763321 + Silent SNP C C T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 6 152763321 152763321 C T SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known silent c.3897 p.A1299 0.002 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC TAPBP 6892 genome.wustl.edu 37 6 33272198 33272198 + Silent SNP G G A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 6 33272198 33272198 G A SNP TAPBP ENST00000426633 human ensembl 70_37 -1 known silent c.1086 p.L362 0.999 pfam_Ig_C1-set,pfscan_Ig-like,prints_Tapasin pfam_Ig_C1-set,pfscan_Ig-like,prints_Tapasin - no_errors TAPBP HGNC TAPBP 6892 genome.wustl.edu 37 6 33273056 33273056 + Nonsense_Mutation SNP G G C TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 6 33273056 33273056 G C SNP TAPBP ENST00000426633 human ensembl 70_37 -1 known nonsense c.578 p.S193* 0.231 NULL pfam_Ig_C1-set,pfscan_Ig-like,prints_Tapasin - no_errors TAPBP HGNC THOC5 8563 genome.wustl.edu 37 22 29939420 29939420 + Missense_Mutation SNP C C T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 22 29939420 29939420 C T SNP THOC5 ENST00000397871 human ensembl 70_37 -1 known missense c.352 p.E118K 1.000 pfam_THO_Thoc5 pfam_THO_Thoc5 - no_errors THOC5 HGNC TNFRSF8 943 genome.wustl.edu 37 1 12202462 12202462 + Silent SNP G G A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 1 12202462 12202462 G A SNP TNFRSF8 ENST00000263932 human ensembl 70_37 +1 known silent c.1662 p.A554 0.926 prints_TNFR_8 pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_8 - no_errors TNFRSF8 HGNC TULP4 56995 genome.wustl.edu 37 6 158873197 158873197 + Missense_Mutation SNP G G C TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 6 158873197 158873197 G C SNP TULP4 ENST00000367097 human ensembl 70_37 +1 known missense c.756 p.Q252H 1.000 superfamily_WD40_repeat_dom pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TULP4 HGNC USH2A 7399 genome.wustl.edu 37 1 216462695 216462695 + Missense_Mutation SNP G G A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 1 216462695 216462695 G A SNP USH2A ENST00000366943 human ensembl 70_37 -1 known missense c.1898 p.S633L 0.987 smart_EGF_laminin pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC VPS54 51542 genome.wustl.edu 37 2 64147684 64147684 + Silent SNP G G A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 2 64147684 64147684 G A SNP VPS54 ENST00000272322 human ensembl 70_37 -1 known silent c.1947 p.T649 0.999 NULL pfam_Vps54,pfam_Vacuolar_sorting-assoc_54 - no_errors VPS54 HGNC WBSCR17 64409 genome.wustl.edu 37 7 70597809 70597809 + Silent SNP C C G TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 7 70597809 70597809 C G SNP WBSCR17 ENST00000333538 human ensembl 70_37 +1 known silent c.21 p.V7 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors WBSCR17 HGNC WDR19 57728 genome.wustl.edu 37 4 39205309 39205309 + Missense_Mutation SNP G G C TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 4 39205309 39205309 G C SNP WDR19 ENST00000399820 human ensembl 70_37 +1 known missense c.570 p.K190N 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR19 HGNC WDR45B 56270 genome.wustl.edu 37 17 80585163 80585163 + Missense_Mutation SNP C C T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 17 80585163 80585163 C T SNP WDR45L ENST00000392325 human ensembl 70_37 -1 known missense c.249 p.M83I 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR45L HGNC WDR90 197335 genome.wustl.edu 37 16 717452 717452 + Missense_Mutation SNP G G A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 16 717452 717452 G A SNP WDR90 ENST00000315764 human ensembl 70_37 +1 known missense c.763 p.D255N 0.969 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR90 HGNC XIRP1 165904 genome.wustl.edu 37 3 39226849 39226849 + Missense_Mutation SNP C C T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 3 39226849 39226849 C T SNP XIRP1 ENST00000340369 human ensembl 70_37 -1 known missense c.4088 p.R1363Q 0.010 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP1 HGNC XKR4 114786 genome.wustl.edu 37 8 56015801 56015801 + Silent SNP C C T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 8 56015801 56015801 C T SNP XKR4 ENST00000327381 human ensembl 70_37 +1 known silent c.753 p.C251 1.000 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR4 HGNC ZDHHC11B 653082 genome.wustl.edu 37 5 756116 756116 + Silent SNP G G T TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 5 756116 756116 G T SNP ZDHHC11B ENST00000382776 human ensembl 70_37 -1 known silent c.366 p.I122 0.985 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC11B HGNC ZNF222 7673 genome.wustl.edu 37 19 44536333 44536333 + Missense_Mutation SNP G G A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 19 44536333 44536333 G A SNP ZNF222 ENST00000391960 human ensembl 70_37 +1 known missense c.626 p.G209E 0.955 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 ZNF222 HGNC ZNF555 148254 genome.wustl.edu 37 19 2852402 2852402 + Silent SNP C C A TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 19 2852402 2852402 C A SNP ZNF555 ENST00000334241 human ensembl 70_37 +1 known silent c.339 p.L113 0.001 NULL 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 ZNF555 HGNC ZNF582 147948 genome.wustl.edu 37 19 56896548 56896548 + Missense_Mutation SNP C C G TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 19 56896548 56896548 C G SNP ZNF582 ENST00000301310 human ensembl 70_37 -1 known missense c.238 p.E80Q 0.003 NULL 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 ZNF582 HGNC ZNF829 374899 genome.wustl.edu 37 19 37382767 37382767 + Nonsense_Mutation SNP G G C TCGA-EA-A3HR-01A-11D-A20U-09 TCGA-EA-A3HR-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4a771746-0d20-4e77-ba67-a235b9e28d7a 3203ee43-42b4-437d-997e-b0bce91d7015 19 37382767 37382767 G C SNP ZNF829 ENST00000520965 human ensembl 70_37 -1 known nonsense c.1169 p.S390* 0.016 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF829 HGNC