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 AMY2B 280 genome.wustl.edu 37 1 104114862 104114862 + Missense_Mutation SNP G G C TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 1 104114862 104114862 G C SNP AMY2B ENST00000361355 human ensembl 70_37 +1 known missense c.299 p.R100T 1.000 pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase - no_errors AMY2B HGNC ARL15 54622 genome.wustl.edu 37 5 53181043 53181044 + RNA INS - - T TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 5 53181043 53181044 - T INS ARL15 ENST00000502271 human ensembl 70_37 -1 known rna NULL NULL 0.030:0.013 - - - no_errors ARL15 HGNC ASPM 259266 genome.wustl.edu 37 1 197072216 197072216 + Silent SNP T T C TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 1 197072216 197072216 T C SNP ASPM ENST00000367409 human ensembl 70_37 -1 known silent c.6165 p.R2055 0.108 pfam_IQ_motif_EF-hand-BS,superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC BCAT2 587 genome.wustl.edu 37 19 49300457 49300457 + Missense_Mutation SNP C C T TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 19 49300457 49300457 C T SNP BCAT2 ENST00000316273 human ensembl 70_37 -1 known missense c.829 p.E277K 0.769 pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII - no_errors BCAT2 HGNC CCDC92 80212 genome.wustl.edu 37 12 124421823 124421823 + Missense_Mutation SNP C C G TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 12 124421823 124421823 C G SNP CCDC92 ENST00000238156 human ensembl 70_37 -1 known missense c.778 p.E260Q 1.000 NULL NULL - no_errors CCDC92 HGNC CREB3L3 84699 genome.wustl.edu 37 19 4157158 4157158 + Missense_Mutation SNP C C T TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 19 4157158 4157158 C T SNP CREB3L3 ENST00000078445 human ensembl 70_37 +1 known missense c.323 p.T108I 0.000 NULL pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors CREB3L3 HGNC CYP4F43P 646802 genome.wustl.edu 37 2 130748038 130748038 + RNA SNP G G A TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 2 130748038 130748038 G A SNP CYP4F43P ENST00000440931 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors AC018865.8 Clone_based_vega_gene DEPDC5 9681 genome.wustl.edu 37 22 32302364 32302364 + Missense_Mutation SNP G G A TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 22 32302364 32302364 G A SNP DEPDC5 ENST00000266091 human ensembl 70_37 +1 known missense c.4627 p.D1543N 0.991 NULL pfam_DUF3608,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC5 HGNC ENSG00000187686 0 genome.wustl.edu 37 11 124984040 124984040 + RNA SNP C C T TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 11 124984040 124984040 C T SNP ENSG00000187686 ENST00000534728 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-687M24.3 Clone_based_vega_gene ENSG00000210191 0 genome.wustl.edu 37 MT 12280 12280 + RNA SNP A A G TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 MT 12280 12280 A G SNP ENSG00000210191 ENST00000387456 human ensembl 70_37 +1 novel rna NULL NULL NULL - - - no_errors J01415.19 Clone_based_ensembl_gene ENSG00000225411 0 genome.wustl.edu 37 9 68401351 68401351 + RNA SNP C C T TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 9 68401351 68401351 C T SNP ENSG00000225411 ENST00000417843 human ensembl 70_37 -1 known rna NULL NULL 0.073 - - - no_errors RP11-764K9.1 Clone_based_vega_gene ENSG00000232903 0 genome.wustl.edu 37 10 134759255 134759255 + RNA SNP C C A TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 10 134759255 134759255 C A SNP ENSG00000232903 ENST00000443633 human ensembl 70_37 -1 putative rna NULL NULL 0.135 - - - no_errors RP13-137A17.4 Clone_based_vega_gene ENSG00000238261 0 genome.wustl.edu 37 1 143403424 143403424 + RNA SNP G G C TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 1 143403424 143403424 G C SNP ENSG00000238261 ENST00000433980 human ensembl 70_37 +1 known rna NULL NULL 0.998 - - - no_errors BX004987.5 Clone_based_vega_gene ENSG00000259966 0 genome.wustl.edu 37 16 32617194 32617194 + RNA SNP G G C TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 16 32617194 32617194 G C SNP ENSG00000259966 ENST00000566952 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-652G5.1 Clone_based_vega_gene ENSG00000265901 0 genome.wustl.edu 37 4 9601972 9601972 + RNA SNP C C T TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 4 9601972 9601972 C T SNP ENSG00000265901 ENST00000459267 human ensembl 70_37 -1 novel rna NULL NULL 0.357 - - - no_errors AC097493.1 Clone_based_ensembl_gene ENSG00000266700 0 genome.wustl.edu 37 X 53172259 53172259 + RNA SNP G G A TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 X 53172259 53172259 G A SNP ENSG00000266700 ENST00000578198 human ensembl 70_37 -1 novel rna NULL NULL 1.000 - - - no_errors AL139396.1 Clone_based_ensembl_gene ENSG00000268301 0 genome.wustl.edu 37 12 11187132 11187133 + In_Frame_Ins INS - - TTG TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 12 11187132 11187133 - TTG INS ENSG00000268301 ENST00000601123 human ensembl 70_37 +1 novel in_frame_ins c.46_47 p.S16in_frame_insFA 0.012:0.013 NULL NULL - no_errors AC018630.1 Clone_based_ensembl_gene ENSG00000268301 0 genome.wustl.edu 37 12 11187133 11187134 + Frame_Shift_Ins INS - - AG TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 12 11187133 11187134 - AG INS ENSG00000268301 ENST00000601123 human ensembl 70_37 +1 novel frame_shift_ins c.47_48 p.K17fs 0.013:0.210 NULL NULL - no_errors AC018630.1 Clone_based_ensembl_gene ENSG00000268573 0 genome.wustl.edu 37 18 32864416 32864416 + RNA SNP C C T TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 18 32864416 32864416 C T SNP ENSG00000268573 ENST00000586922 human ensembl 70_37 -1 known rna NULL NULL 0.013 - - - no_errors RP11-158H5.7 Clone_based_vega_gene ETFB 2109 genome.wustl.edu 37 19 51848515 51848515 + Missense_Mutation SNP C C T TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 19 51848515 51848515 C T SNP ETFB ENST00000354232 human ensembl 70_37 -1 known missense c.991 p.E331K 1.000 NULL pfam_ETF_a/b_N,smart_ETF_a/b_N - no_errors ETFB HGNC GPC2 221914 genome.wustl.edu 37 7 99773202 99773202 + Missense_Mutation SNP C C T TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 7 99773202 99773202 C T SNP GPC2 ENST00000292377 human ensembl 70_37 -1 known missense c.641 p.R214H 1.000 pfam_Glypican pfam_Glypican - no_errors GPC2 HGNC GPM6A 2823 genome.wustl.edu 37 4 176594981 176594981 + Missense_Mutation SNP G G T TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 4 176594981 176594981 G T SNP GPM6A ENST00000280187 human ensembl 70_37 -1 known missense c.237 p.D79E 1.000 pfam_Myelin_PLP,prints_Myelin_PLP pfam_Myelin_PLP,smart_Myelin_PLP,prints_Myelin_PLP - no_errors GPM6A HGNC IGFALS 3483 genome.wustl.edu 37 16 1841503 1841503 + Missense_Mutation SNP G G A TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 16 1841503 1841503 G A SNP IGFALS ENST00000415638 human ensembl 70_37 -1 known missense c.1030 p.R344W 0.989 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors IGFALS HGNC KIAA1024 23251 genome.wustl.edu 37 15 79750542 79750542 + Missense_Mutation SNP G G A TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 15 79750542 79750542 G A SNP KIAA1024 ENST00000305428 human ensembl 70_37 +1 known missense c.2053 p.D685N 0.998 NULL pfam_UPF0258 - no_errors KIAA1024 HGNC KIF1A 547 genome.wustl.edu 37 2 241664739 241664739 + Missense_Mutation SNP G G A TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 2 241664739 241664739 G A SNP KIF1A ENST00000498729 human ensembl 70_37 -1 known missense c.4205 p.S1402L 0.975 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1A HGNC KRAS 3845 genome.wustl.edu 37 12 25398281 25398281 + Missense_Mutation SNP C C T TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 12 25398281 25398281 C T SNP KRAS ENST00000256078 human ensembl 70_37 -1 known missense c.38 p.G13D 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors KRAS HGNC LRRC30 339291 genome.wustl.edu 37 18 7231199 7231199 + Silent SNP G G A TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 18 7231199 7231199 G A SNP LRRC30 ENST00000383467 human ensembl 70_37 +1 known silent c.63 p.T21 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC30 HGNC METTL8 79828 genome.wustl.edu 37 2 172195993 172195993 + Missense_Mutation SNP C C G TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 2 172195993 172195993 C G SNP METTL8 ENST00000392604 human ensembl 70_37 -1 known missense c.307 p.D103H 1.000 NULL pfam_Methyltransf_11 - no_errors METTL8 HGNC MOB1B 92597 genome.wustl.edu 37 4 71768103 71768103 + RNA SNP C C G TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 4 71768103 71768103 C G SNP MOB1B ENST00000511449 human ensembl 70_37 +1 known rna NULL NULL 0.015 - - - no_errors MOB1B HGNC MSH4 4438 genome.wustl.edu 37 1 76282203 76282203 + Missense_Mutation SNP G G C TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 1 76282203 76282203 G C SNP MSH4 ENST00000263187 human ensembl 70_37 +1 known missense c.961 p.E321Q 1.000 pfam_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_connt pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_connt,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_connt,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH4 HGNC MT-ND5 4540 genome.wustl.edu 37 MT 13825 13825 + Nonsense_Mutation SNP G G A TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 MT 13825 13825 G A SNP MT-ND5 ENST00000361567 human ensembl 70_37 +1 known nonsense c.1489 p.G497* NULL pfam_NADH_DH_su5_C,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC MUC16 94025 genome.wustl.edu 37 19 9057967 9057967 + Missense_Mutation SNP G G A TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 19 9057967 9057967 G A SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.29479 p.H9827Y 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC MUC16 94025 genome.wustl.edu 37 19 9062922 9062922 + Missense_Mutation SNP G G A TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 19 9062922 9062922 G A SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.24524 p.S8175L 0.003 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC OR13F1 138805 genome.wustl.edu 37 9 107266772 107266772 + Missense_Mutation SNP G G T TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 9 107266772 107266772 G T SNP OR13F1 ENST00000334726 human ensembl 70_37 +1 known missense c.229 p.A77S 0.833 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13F1 HGNC OR1C1 26188 genome.wustl.edu 37 1 247920940 247920940 + Missense_Mutation SNP C C T TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 1 247920940 247920940 C T SNP OR1C1 ENST00000408896 human ensembl 70_37 -1 known missense c.769 p.A257T 0.014 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1C1 HGNC PBX2P1 5088 genome.wustl.edu 37 3 142897272 142897273 + RNA INS - - TTG TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 3 142897272 142897273 - TTG INS PBX2P1 ENST00000560287 human ensembl 70_37 +1 known rna NULL NULL 0.085:0.057 - - - no_errors PBX2P1 HGNC PPFIA1 8500 genome.wustl.edu 37 11 70183532 70183532 + Missense_Mutation SNP A A G TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 11 70183532 70183532 A G SNP PPFIA1 ENST00000253925 human ensembl 70_37 +1 known missense c.1490 p.K497R 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA1 HGNC PRR4 11272 genome.wustl.edu 37 12 11001055 11001055 + RNA SNP C C T TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 12 11001055 11001055 C T SNP PRR4 ENST00000539285 human ensembl 70_37 -1 known rna NULL NULL 0.050 - - - no_errors PRR4 HGNC PTPRT 11122 genome.wustl.edu 37 20 40979319 40979319 + Missense_Mutation SNP G G A TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 20 40979319 40979319 G A SNP PTPRT ENST00000373198 human ensembl 70_37 -1 known missense c.1814 p.T605M 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC RAB40A 142684 genome.wustl.edu 37 X 102755559 102755559 + Silent SNP C C T TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 X 102755559 102755559 C T SNP RAB40A ENST00000304236 human ensembl 70_37 -1 known silent c.126 p.P42 0.274 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_SOCS_C,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_SOCS_C,pfscan_SOCS_C,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB40A HGNC SBF1 6305 genome.wustl.edu 37 22 50897698 50897698 + Missense_Mutation SNP T T C TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 22 50897698 50897698 T C SNP SBF1 ENST00000380817 human ensembl 70_37 -1 known missense c.3812 p.H1271R 1.000 NULL pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF1 HGNC SIX5 147912 genome.wustl.edu 37 19 46270270 46270270 + Missense_Mutation SNP G G A TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 19 46270270 46270270 G A SNP SIX5 ENST00000317578 human ensembl 70_37 -1 known missense c.947 p.P316L 0.993 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors SIX5 HGNC SMC2 10592 genome.wustl.edu 37 9 106882375 106882375 + Silent SNP G G A TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 9 106882375 106882375 G A SNP SMC2 ENST00000286398 human ensembl 70_37 +1 known silent c.2064 p.L688 0.511 superfamily_SMC_hinge pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC2 HGNC SMOX 54498 genome.wustl.edu 37 20 4155761 4155761 + Missense_Mutation SNP G G A TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 20 4155761 4155761 G A SNP SMOX ENST00000305958 human ensembl 70_37 +1 known missense c.59 p.R20Q 1.000 NULL pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom - no_errors SMOX HGNC SPEG 10290 genome.wustl.edu 37 2 220348578 220348578 + Silent SNP C C T TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 2 220348578 220348578 C T SNP SPEG ENST00000312358 human ensembl 70_37 +1 novel silent c.6393 p.F2131 0.855 NULL pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors SPEG HGNC TNNI3 7137 genome.wustl.edu 37 19 55668952 55668952 + Silent SNP C C T TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 19 55668952 55668952 C T SNP TNNI3 ENST00000344887 human ensembl 70_37 -1 known silent c.6 p.A2 0.802 NULL pfam_Troponin,pfam_Troponin-I_N - no_errors TNNI3 HGNC UBN1 29855 genome.wustl.edu 37 16 4910677 4910677 + Silent SNP C C G TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 16 4910677 4910677 C G SNP UBN1 ENST00000262376 human ensembl 70_37 +1 known silent c.684 p.L228 0.999 NULL NULL - no_errors UBN1 HGNC UROD 7389 genome.wustl.edu 37 1 45480138 45480138 + Missense_Mutation SNP G G A TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 1 45480138 45480138 G A SNP UROD ENST00000246337 human ensembl 70_37 +1 known missense c.664 p.G222R 1.000 pfam_Uroporphyrinogen_deCOase,tigrfam_Uroporphyrinogen_deCO2ase_HemE pfam_Uroporphyrinogen_deCOase,tigrfam_Uroporphyrinogen_deCO2ase_HemE - no_errors UROD HGNC XRRA1 143570 genome.wustl.edu 37 11 74651913 74651913 + Missense_Mutation SNP G G A TCGA-C5-A3HF-01A-11D-A20U-09 TCGA-C5-A3HF-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4627ca0c-13cc-45e5-aaa9-e2e7026780b5 0c2ac98e-7ee3-466d-8fbf-6a8345ebcc41 11 74651913 74651913 G A SNP XRRA1 ENST00000340360 human ensembl 70_37 -1 known missense c.11 p.S4L 0.296 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors XRRA1 HGNC