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 AADACL4 0 genome.wustl.edu 37 1 12711295 12711295 + Missense_Mutation SNP T T A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 1 12711295 12711295 T A SNP AADACL4 ENST00000376221 human ensembl 74_37 +1 known missense c.322 p.S108T 0.137 pirsf_Arylacetamide_deacetylase pfam_AB_hydrolase_3,pirsf_Arylacetamide_deacetylase - no_errors AADACL4 HGNC ENSG00000204518 tier1 - - 62 0 0.00 79 35 30.70 ACAA2 0 genome.wustl.edu 37 18 47318527 47318527 + Missense_Mutation SNP C C T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 18 47318527 47318527 C T SNP ACAA2 ENST00000285093 human ensembl 74_37 -1 known missense c.748 p.A250T 1.000 pfam_Thiolase_N,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase pfam_Thiolase_N,pfam_Thiolase_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase - no_errors ACAA2 HGNC ENSG00000167315 tier1 - - 51 0 0.00 52 4 7.14 ACHE 0 genome.wustl.edu 37 7 100490031 100490032 + Frame_Shift_Ins INS - - G TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 7 100490031 100490032 0 G INS ACHE ENST00000302913 human ensembl 74_37 -1 known frame_shift_ins c.1477_1476 p.S492fs 0.000:0.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors ACHE HGNC ENSG00000087085 70 0 0.00 168 18 9.68 ADTRP 0 genome.wustl.edu 37 6 11768590 11768590 + Nonsense_Mutation SNP G G T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 6 11768590 11768590 G T SNP ADTRP ENST00000485323 human ensembl 74_37 -1 known nonsense c.239 p.S80* 0.996 NULL pfam_Far-17a_AIG1 - no_errors ADTRP HGNC ENSG00000111863 tier1 - - 69 0 0.00 68 30 30.61 AGAP4 0 genome.wustl.edu 37 10 46321476 46321476 + Missense_Mutation SNP C C A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 10 46321476 46321476 C A SNP AGAP4 ENST00000448048 human ensembl 74_37 -1 known missense c.1879 p.V627F 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP4 HGNC ENSG00000188234 tier1 - - 47 0 0.00 41 20 32.79 AIG1 0 genome.wustl.edu 37 6 143457998 143457998 + Missense_Mutation SNP C C G TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 6 143457998 143457998 C G SNP AIG1 ENST00000275235 human ensembl 74_37 +1 known missense c.168 p.I56M 1.000 pfam_Far-17a_AIG1 pfam_Far-17a_AIG1 - no_errors AIG1 HGNC ENSG00000146416 tier1 - - 42 0 0.00 28 26 48.15 AIM1 0 genome.wustl.edu 37 6 106960342 106960342 + Silent SNP C C T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 6 106960342 106960342 C T SNP AIM1 ENST00000369066 human ensembl 74_37 +1 known silent c.126 p.D42 0.987 NULL pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors AIM1 HGNC ENSG00000112297 55 0 0.00 69 4 5.41 ALDH18A1 0 genome.wustl.edu 37 10 97366618 97366618 + Silent SNP C C T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 10 97366618 97366618 C T SNP ALDH18A1 ENST00000371224 human ensembl 74_37 -1 known silent c.2289 p.L763 0.989 superfamily_Ald_DH/histidinol_DH,pirsf_P5_carboxy_syn,tigrfam_P5_carboxy_syn pfam_Asp/Glu/Uridylate_kinase,pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,superfamily_Asp/Glu/Uridylate_kinase,pirsf_P5_carboxy_syn,prints_Glu/AcGlu_kinase,tigrfam_P5_carboxy_syn,tigrfam_G-glutamylP_reductase - no_errors ALDH18A1 HGNC ENSG00000059573 tier1 - - 65 0 0.00 53 4 7.02 AMBN 0 genome.wustl.edu 37 4 71467239 71467239 + Silent SNP C C A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 4 71467239 71467239 C A SNP AMBN ENST00000322937 human ensembl 74_37 +1 known silent c.399 p.T133 0.000 pfam_Amelin,smart_Amelin pfam_Amelin,smart_Amelin - no_errors AMBN HGNC ENSG00000178522 40 0 0.00 51 4 7.27 ANK3 0 genome.wustl.edu 37 10 61830487 61830487 + Silent SNP C C T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 10 61830487 61830487 C T SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known silent c.10152 p.Q3384 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 tier1 - - 37 0 0.00 55 4 6.78 APLP1 0 genome.wustl.edu 37 19 36362551 36362551 + Missense_Mutation SNP G G A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 19 36362551 36362551 G A SNP APLP1 ENST00000221891 human ensembl 74_37 +1 known missense c.575 p.G192D 1.000 pfam_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,smart_Amyloid_glyco_extra pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,smart_Amyloid_glyco_extra,prints_Amyloid_glyco - no_errors APLP1 HGNC ENSG00000105290 22 0 0.00 28 3 9.68 ARID1B 0 genome.wustl.edu 37 6 157099427 157099429 + In_Frame_Del DEL CAG CAG - TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 6 157099427 157099429 CAG - DEL ARID1B ENST00000367148 human ensembl 74_37 +1 known in_frame_del c.364_366 p.Q125in_frame_del 0.974:0.990:0.991 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1B HGNC ENSG00000049618 tier1 9 0 0.00 8 4 33.33 ASL 0 genome.wustl.edu 37 7 65546811 65546811 + Missense_Mutation SNP C C T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 7 65546811 65546811 C T SNP ASL ENST00000304874 human ensembl 74_37 +1 known missense c.34 p.R12W 1.000 pfam_Fumarate_lyase_N,superfamily_L-Aspartase-like,tigrfam_Argininosuccinate_lyase pfam_Fumarate_lyase_N,superfamily_L-Aspartase-like,prints_Fumarate_lyase_fam,tigrfam_Argininosuccinate_lyase - no_errors ASL HGNC ENSG00000126522 tier1 - - 34 0 0.00 35 26 42.62 ATP13A1 0 genome.wustl.edu 37 19 19760397 19760397 + Missense_Mutation SNP C C A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 19 19760397 19760397 C A SNP ATP13A1 ENST00000357324 human ensembl 74_37 -1 known missense c.2611 p.A871S 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A1 HGNC ENSG00000105726 tier1 - - 31 0 0.00 30 13 30.23 ATP5C1 0 genome.wustl.edu 37 10 7844263 7844263 + Missense_Mutation SNP C C T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 10 7844263 7844263 C T SNP ATP5C1 ENST00000356708 human ensembl 74_37 +1 known missense c.668 p.A223V 1.000 pfam_ATPase_F1-cplx_gsu,superfamily_ATPase_F1_gsu_dom,tigrfam_ATPase_F1-cplx_gsu pfam_ATPase_F1-cplx_gsu,superfamily_ATPase_F1_gsu_dom,prints_ATPase_F1-cplx_gsu,tigrfam_ATPase_F1-cplx_gsu - no_errors ATP5C1 HGNC ENSG00000165629 tier1 - - 41 0 0.00 32 3 8.57 AURKA 0 genome.wustl.edu 37 20 54959346 54959346 + Silent SNP C C T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 20 54959346 54959346 C T SNP AURKA ENST00000312783 human ensembl 74_37 -1 known silent c.354 p.Q118 0.997 NULL 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 AURKA HGNC ENSG00000087586 tier1 - - 67 0 0.00 83 20 19.42 AVIL 0 genome.wustl.edu 37 12 58204330 58204330 + Frame_Shift_Del DEL A A - TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 12 58204330 58204330 A - DEL AVIL ENST00000257861 human ensembl 74_37 -1 known frame_shift_del c.563 p.M188fs 1.000 pfam_Gelsolin_dom,smart_Villin/Gelsolin pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors AVIL HGNC ENSG00000135407 tier1 14 0 0.00 15 9 37.50 BRINP2 0 genome.wustl.edu 37 1 177247739 177247739 + Silent SNP G G T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 1 177247739 177247739 G T SNP BRINP2 ENST00000361539 human ensembl 74_37 +1 known silent c.1053 p.R351 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP2 HGNC ENSG00000198797 tier1 - - 40 0 0.00 15 3 16.67 C5orf46 0 genome.wustl.edu 37 5 147281335 147281335 + Missense_Mutation SNP G G C TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 5 147281335 147281335 G C SNP C5orf46 ENST00000318315 human ensembl 74_37 -1 known missense c.72 p.D24E 0.970 NULL NULL - no_errors C5orf46 HGNC ENSG00000178776 tier1 - - 47 0 0.00 29 12 29.27 C9orf142 0 genome.wustl.edu 37 9 139888246 139888246 + Missense_Mutation SNP G G A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 9 139888246 139888246 G A SNP C9orf142 ENST00000371620 human ensembl 74_37 +1 known missense c.604 p.D202N 0.819 NULL NULL - no_errors C9orf142 HGNC ENSG00000148362 tier1 - - 60 0 0.00 104 50 32.47 CAMTA1 0 genome.wustl.edu 37 1 7796554 7796554 + Missense_Mutation SNP G G A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 1 7796554 7796554 G A SNP CAMTA1 ENST00000303635 human ensembl 74_37 +1 known missense c.3217 p.A1073T 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC ENSG00000171735 tier1 - - 49 0 0.00 44 4 8.33 CCDC141 0 genome.wustl.edu 37 2 179736884 179736884 + Silent SNP C C T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 2 179736884 179736884 C T SNP CCDC141 ENST00000420890 human ensembl 74_37 -1 known silent c.2055 p.A685 0.010 NULL pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CCDC141 HGNC ENSG00000163492 tier1 - - 45 0 0.00 31 26 45.61 CCDC39 0 genome.wustl.edu 37 3 180397551 180397551 + Missense_Mutation SNP A A G TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 3 180397551 180397551 A G SNP CCDC39 ENST00000273654 human ensembl 74_37 -1 known missense c.95 p.L32P 0.000 NULL superfamily_tRNA-bd_arm - no_errors CCDC39 HGNC ENSG00000145075 tier1 - - 93 0 0.00 81 104 56.22 CD244 0 genome.wustl.edu 37 1 160808261 160808261 + Missense_Mutation SNP G G T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 1 160808261 160808261 G T SNP CD244 ENST00000368033 human ensembl 74_37 -1 known missense c.829 p.L277M 0.000 NULL pfam_NK_rcpt_2B4_Ig_dom,pfscan_Ig-like_dom - no_errors CD244 HGNC ENSG00000122223 81 0 0.00 70 4 5.41 CDK5RAP2 0 genome.wustl.edu 37 9 123165255 123165255 + Silent SNP C C G TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 9 123165255 123165255 C G SNP CDK5RAP2 ENST00000349780 human ensembl 74_37 -1 known silent c.5136 p.L1712 0.697 NULL pfam_Spindle_assoc - no_errors CDK5RAP2 HGNC ENSG00000136861 tier1 - - 36 0 0.00 46 28 37.84 CFLAR-AS1 0 genome.wustl.edu 37 2 202005016 202005016 + RNA SNP A A G TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 2 202005016 202005016 A G SNP CFLAR-AS1 ENST00000415011 human ensembl 74_37 -1 known rna NULL NULL 0.914 - - - no_errors CFLAR-AS1 HGNC ENSG00000226312 tier1 - - 108 0 0.00 91 53 36.81 CHD8 0 genome.wustl.edu 37 14 21868426 21868426 + Frame_Shift_Del DEL T T - TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 14 21868426 21868426 T - DEL CHD8 ENST00000399982 human ensembl 74_37 -1 known frame_shift_del c.4611 p.V1538fs 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD8 HGNC ENSG00000100888 tier1 41 0 0.00 72 38 34.55 CLDN12 0 genome.wustl.edu 37 7 90099208 90099208 + RNA SNP C C T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 7 90099208 90099208 C T SNP CLDN12 ENST00000498033 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CLDN12 HGNC ENSG00000157224 tier1 - - 26 0 0.00 49 7 12.50 CNOT3 0 genome.wustl.edu 37 19 54646887 54646887 + Missense_Mutation SNP G G A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 19 54646887 54646887 G A SNP CNOT3 ENST00000221232 human ensembl 74_37 +1 known missense c.58 p.E20K 1.000 pfam_Not_N,pirsf_CCR4-NOT_su3/5 pfam_Not_N,pfam_NOT,pirsf_CCR4-NOT_su3/5 - no_errors CNOT3 HGNC ENSG00000088038 15 0 0.00 15 4 21.05 CNST 0 genome.wustl.edu 37 1 246784932 246784932 + Missense_Mutation SNP A A G TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 1 246784932 246784932 A G SNP CNST ENST00000366513 human ensembl 74_37 +1 known missense c.581 p.H194R 1.000 NULL NULL - no_errors CNST HGNC ENSG00000162852 tier1 - - 45 0 0.00 14 25 64.10 COG7 0 genome.wustl.edu 37 16 23421669 23421669 + Silent SNP G G T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 16 23421669 23421669 G T SNP COG7 ENST00000307149 human ensembl 74_37 -1 known silent c.1422 p.T474 1.000 pfam_COG7 pfam_COG7 - no_errors COG7 HGNC ENSG00000168434 tier1 - - 59 0 0.00 66 4 5.71 COL13A1 0 genome.wustl.edu 37 10 71678829 71678829 + Silent SNP G G A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 10 71678829 71678829 G A SNP COL13A1 ENST00000356340 human ensembl 74_37 +1 known silent c.1041 p.G347 0.997 pfam_Collagen pfam_Collagen - no_errors COL13A1 HGNC ENSG00000197467 tier1 - - 29 0 0.00 24 5 17.24 CREBBP 0 genome.wustl.edu 37 16 3788617 3788617 + Missense_Mutation SNP C C A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 16 3788617 3788617 C A SNP CREBBP ENST00000262367 human ensembl 74_37 -1 known missense c.4337 p.R1446L 1.000 pfam_Histone_H3-K56_AcTrfase_RTT109 pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 tier1 - - 84 0 0.00 87 46 34.59 CUEDC1 0 genome.wustl.edu 37 17 55940323 55940324 + RNA INS - - T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 17 55940323 55940324 - T INS CUEDC1 ENST00000577422 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.000 - - - no_errors CUEDC1 HGNC ENSG00000180891 tier1 13 0 0.00 12 4 25.00 DCAF12L1 0 genome.wustl.edu 37 X 125685998 125685998 + Silent SNP G G A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 X 125685998 125685998 G A SNP DCAF12L1 ENST00000371126 human ensembl 74_37 -1 known silent c.594 p.F198 0.004 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L1 HGNC ENSG00000198889 tier1 - - 46 0 0.00 17 33 66.00 DHX30 0 genome.wustl.edu 37 3 47887139 47887140 + RNA INS - - T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 3 47887139 47887140 - T INS DHX30 ENST00000461905 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.000 - - - no_errors DHX30 HGNC ENSG00000132153 tier1 28 0 0.00 14 9 39.13 DNALI1 0 genome.wustl.edu 37 1 38023339 38023339 + Nonsense_Mutation SNP C C A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 1 38023339 38023339 C A SNP DNALI1 ENST00000541606 human ensembl 74_37 +1 known nonsense c.9 p.Y3* 1.000 NULL pfam_Axonemal_dynein_light_chain - no_errors DNALI1 HGNC ENSG00000163879 15 0 0.00 16 4 20.00 DOC2A 0 genome.wustl.edu 37 16 30020351 30020351 + Missense_Mutation SNP T T A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 16 30020351 30020351 T A SNP DOC2A ENST00000350119 human ensembl 74_37 -1 known missense c.493 p.I165F 0.943 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pirsf_Doc2,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pirsf_Doc2,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom - no_errors DOC2A HGNC ENSG00000149927 tier1 - - 46 0 0.00 34 16 32.00 DOCK2 0 genome.wustl.edu 37 5 169412885 169412885 + Silent SNP G G T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 5 169412885 169412885 G T SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known silent c.2952 p.V984 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 tier1 - - 44 0 0.00 55 4 6.78 DPH5 0 genome.wustl.edu 37 1 101455897 101455897 + RNA DEL A A - TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 1 101455897 101455897 A - DEL DPH5 ENST00000370105 human ensembl 74_37 -1 known rna NULL NULL 0.036 - - - no_errors DPH5 HGNC ENSG00000117543 tier1 11 0 0.00 26 10 27.78 DSG1 0 genome.wustl.edu 37 18 28913582 28913582 + Missense_Mutation SNP G G T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 18 28913582 28913582 G T SNP DSG1 ENST00000257192 human ensembl 74_37 +1 known missense c.715 p.G239C 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Desmoglein,prints_Cadherin,prints_Desmosomal_cadherin - no_errors DSG1 HGNC ENSG00000134760 tier1 - - 39 0 0.00 44 4 8.33 DTYMK 0 genome.wustl.edu 37 2 242615582 242615582 + Missense_Mutation SNP C C T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 2 242615582 242615582 C T SNP DTYMK ENST00000305784 human ensembl 74_37 -1 known missense c.599 p.R200H 0.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase,tigrfam_Thymidylate_kinase - no_errors DTYMK HGNC ENSG00000168393 30 0 0.00 41 3 6.82 EEF1E1 0 genome.wustl.edu 37 6 8080173 8080173 + Missense_Mutation SNP G G T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 6 8080173 8080173 G T SNP EEF1E1 ENST00000379715 human ensembl 74_37 -1 known missense c.475 p.L159M 1.000 superfamily_Glutathione-S-Trfase_C-like pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like - no_errors EEF1E1 HGNC ENSG00000124802 tier1 - - 67 0 0.00 68 4 5.56 EEF2 0 genome.wustl.edu 37 19 3980008 3980008 + Missense_Mutation SNP T T C TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 19 3980008 3980008 T C SNP EEF2 ENST00000309311 human ensembl 74_37 -1 known missense c.1403 p.N468S 1.000 pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_B-barrel pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EEF2 HGNC ENSG00000167658 tier1 - - 12 0 0.00 30 9 23.08 ENSG00000214888 0 genome.wustl.edu 37 9 90474265 90474265 + RNA SNP G G A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 9 90474265 90474265 G A SNP ENSG00000214888 ENST00000399186 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors XXyac-YM21GA2.7 Clone_based_vega_gene ENSG00000214888 tier1 - - 68 0 0.00 97 31 24.22 ENSG00000237640 0 genome.wustl.edu 37 7 99527283 99527283 + RNA SNP C C T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 7 99527283 99527283 C T SNP ENSG00000237640 ENST00000456499 human ensembl 74_37 +1 known rna NULL NULL 0.419 - - - no_errors RP4-604G5.1 Clone_based_vega_gene ENSG00000237640 tier1 - - 35 0 0.00 75 5 6.25 ENSG00000259172 0 genome.wustl.edu 37 15 101844107 101844107 + RNA SNP G G C TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 15 101844107 101844107 G C SNP ENSG00000259172 ENST00000558838 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-299G20.2 Clone_based_vega_gene ENSG00000259172 tier1 - - 88 0 0.00 129 22 14.57 ENSG00000259479 0 genome.wustl.edu 37 15 45123755 45123756 + RNA INS - - C TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 15 45123755 45123756 - C INS ENSG00000259479 ENST00000561384 human ensembl 74_37 -1 putative rna NULL NULL 0.632:0.983 - - - no_errors CTD-2008A1.2 Clone_based_vega_gene ENSG00000259479 tier1 35 0 0.00 31 9 22.50 ENSG00000261720 0 genome.wustl.edu 37 16 1116262 1116262 + RNA SNP G G A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 16 1116262 1116262 G A SNP ENSG00000261720 ENST00000564390 human ensembl 74_37 +1 known rna NULL NULL 0.049 - - - no_errors RP11-161M6.5 Clone_based_vega_gene ENSG00000261720 tier1 - - 32 0 0.00 21 17 44.74 EPN1 0 genome.wustl.edu 37 19 56200328 56200328 + Missense_Mutation SNP G G A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 19 56200328 56200328 G A SNP EPN1 ENST00000411543 human ensembl 74_37 +1 known missense c.904 p.A302T 1.000 smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif pfam_Epsin_dom_N,pfam_ANTH_dom,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif - no_errors EPN1 HGNC ENSG00000063245 tier1 - - 25 0 0.00 20 9 31.03 FAM122C 0 genome.wustl.edu 37 X 133938243 133938243 + Nonsense_Mutation SNP G G T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 X 133938243 133938243 G T SNP FAM122C ENST00000414371 human ensembl 74_37 +1 known nonsense c.16 p.G6* 0.013 NULL NULL - no_errors FAM122C HGNC ENSG00000156500 tier1 - - 44 0 0.00 68 4 5.56 FAM129A 0 genome.wustl.edu 37 1 184853931 184853931 + Missense_Mutation SNP G G T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 1 184853931 184853931 G T SNP FAM129A ENST00000367511 human ensembl 74_37 -1 known missense c.437 p.S146Y 0.685 NULL NULL - no_errors FAM129A HGNC ENSG00000135842 tier1 - - 78 0 0.00 41 31 42.47 FAM3D 0 genome.wustl.edu 37 3 58635041 58635041 + Splice_Site SNP C C T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 3 58635041 58635041 C T SNP FAM3D ENST00000358781 human ensembl 74_37 -1 known splice_site c.145+1 e3+1 0.627 - - - no_errors FAM3D HGNC ENSG00000198643 tier1 - - 44 0 0.00 20 16 44.44 FAM57A 0 genome.wustl.edu 37 17 644588 644588 + Silent SNP G G T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 17 644588 644588 G T SNP FAM57A ENST00000308278 human ensembl 74_37 +1 known silent c.552 p.T184 0.793 pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom - no_errors FAM57A HGNC ENSG00000167695 tier1 - - 37 0 0.00 56 4 6.67 FAT3 0 genome.wustl.edu 37 11 92533683 92533683 + Missense_Mutation SNP G G T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 11 92533683 92533683 G T SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.7504 p.V2502L 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 19 0 0.00 17 2 10.53 FCRL6 0 genome.wustl.edu 37 1 159779317 159779317 + Missense_Mutation SNP G G T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 1 159779317 159779317 G T SNP FCRL6 ENST00000368106 human ensembl 74_37 +1 known missense c.730 p.D244Y 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL6 HGNC ENSG00000181036 34 0 0.00 30 2 6.25 FGF5 0 genome.wustl.edu 37 4 81188197 81188197 + Silent SNP C C T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 4 81188197 81188197 C T SNP FGF5 ENST00000312465 human ensembl 74_37 +1 known silent c.219 p.G73 1.000 NULL pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF5 HGNC ENSG00000138675 tier1 - - 78 0 0.00 59 23 28.05 FLYWCH2 0 genome.wustl.edu 37 16 2949270 2949270 + RNA DEL T T - TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 16 2949270 2949270 T - DEL FLYWCH2 ENST00000572786 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors FLYWCH2 HGNC ENSG00000162076 tier1 24 0 0.00 30 5 14.29 FREM2 0 genome.wustl.edu 37 13 39263873 39263873 + Missense_Mutation SNP C C G TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 13 39263873 39263873 C G SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known missense c.2392 p.R798G 0.945 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 tier1 - - 55 0 0.00 38 17 30.91 GALP 0 genome.wustl.edu 37 19 56694564 56694564 + Missense_Mutation SNP C C T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 19 56694564 56694564 C T SNP GALP ENST00000357330 human ensembl 74_37 +1 known missense c.278 p.A93V 0.021 NULL pfam_Galanin - no_errors GALP HGNC ENSG00000197487 tier1 - - 71 0 0.00 68 4 5.56 GNAS 0 genome.wustl.edu 37 20 57484444 57484444 + Missense_Mutation SNP G G C TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 20 57484444 57484444 G C SNP GNAS ENST00000354359 human ensembl 74_37 +1 known missense c.628 p.E210Q 1.000 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su - no_errors GNAS HGNC ENSG00000087460 tier1 - - 88 0 0.00 84 30 26.32 GON4L 0 genome.wustl.edu 37 1 155740961 155740961 + Missense_Mutation SNP T T A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 1 155740961 155740961 T A SNP GON4L ENST00000368331 human ensembl 74_37 -1 known missense c.2543 p.N848I 0.996 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC ENSG00000116580 tier1 - - 103 0 0.00 116 65 35.91 HERC1 0 genome.wustl.edu 37 15 64026961 64026961 + Nonsense_Mutation SNP G G A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 15 64026961 64026961 G A SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known nonsense c.2608 p.Q870* 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 tier1 - - 68 0 0.00 95 22 18.80 HERC3 0 genome.wustl.edu 37 4 89571101 89571101 + Missense_Mutation SNP G G A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 4 89571101 89571101 G A SNP HERC3 ENST00000264345 human ensembl 74_37 +1 known missense c.337 p.D113N 1.000 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens pfam_Reg_chr_condens,pfam_HECT,superfamily_HECT,superfamily_RCC1/BLIP-II,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC3 HGNC ENSG00000138641 tier1 - - 52 0 0.00 49 29 37.18 HGS 0 genome.wustl.edu 37 17 79660958 79660958 + Missense_Mutation SNP C C T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 17 79660958 79660958 C T SNP HGS ENST00000329138 human ensembl 74_37 +1 known missense c.899 p.S300L 0.992 pirsf_Ubi-bd_Hrs_VPS27 pfam_VHS,pfam_HRS_helical,pfam_Znf_FYVE,superfamily_ENTH_VHS,superfamily_Znf_FYVE_PHD,smart_VHS_subgr,smart_Znf_FYVE,pirsf_Ubi-bd_Hrs_VPS27,pfscan_Ubiquitin-int_motif,pfscan_VHS,pfscan_Znf_FYVE-rel - no_errors HGS HGNC ENSG00000185359 tier1 - - 31 0 0.00 31 10 24.39 HS6ST3 0 genome.wustl.edu 37 13 97485218 97485218 + Silent SNP C C T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 13 97485218 97485218 C T SNP HS6ST3 ENST00000376705 human ensembl 74_37 +1 known silent c.1182 p.R394 0.953 pfam_Sulfotransferase pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors HS6ST3 HGNC ENSG00000185352 tier1 - - 33 0 0.00 26 12 31.58 IER5 0 genome.wustl.edu 37 1 181058181 181058181 + Missense_Mutation SNP T T A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 1 181058181 181058181 T A SNP IER5 ENST00000367577 human ensembl 74_37 +1 known missense c.143 p.L48Q 1.000 pfam_IER pfam_IER - no_errors IER5 HGNC ENSG00000162783 tier1 - - 24 0 0.00 31 25 44.64 IFNGR2 0 genome.wustl.edu 37 21 34787211 34787211 + Silent SNP G G T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 21 34787211 34787211 G T SNP IFNGR2 ENST00000290219 human ensembl 74_37 +1 known silent c.90 p.L30 0.994 superfamily_Fibronectin_type3 pfam_Interferon_alpha/beta_rcpt_bsu,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IFNGR2 HGNC ENSG00000159128 tier1 - - 40 0 0.00 13 14 51.85 IKBKE 0 genome.wustl.edu 37 1 206648350 206648350 + RNA SNP C C T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 1 206648350 206648350 C T SNP IKBKE ENST00000463979 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors IKBKE HGNC ENSG00000143466 tier1 - - 22 0 0.00 25 9 26.47 IL17RA 0 genome.wustl.edu 37 22 17586491 17586491 + Silent SNP G G A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 22 17586491 17586491 G A SNP IL17RA ENST00000319363 human ensembl 74_37 +1 known silent c.942 p.P314 0.289 NULL pfam_SEFIR - no_errors IL17RA HGNC ENSG00000177663 36 0 0.00 33 2 5.71 IRF9 0 genome.wustl.edu 37 14 24633132 24633134 + In_Frame_Del DEL AGC AGC - TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 AGC AGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 14 24633132 24633134 AGC - DEL IRF9 ENST00000396864 human ensembl 74_37 +1 known in_frame_del c.541_543 p.S184in_frame_del 0.064:0.076:0.081 NULL pfam_Interferon_reg_fact_DNA-bd_dom,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF9 HGNC ENSG00000213928 tier1 31 0 0.00 34 2 5.56 ISG20 0 genome.wustl.edu 37 15 89195433 89195433 + Missense_Mutation SNP C C G TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 15 89195433 89195433 C G SNP ISG20 ENST00000306072 human ensembl 74_37 +1 known missense c.321 p.I107M 0.943 pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors ISG20 HGNC ENSG00000172183 tier1 - - 40 0 0.00 66 12 15.38 KALRN 0 genome.wustl.edu 37 3 124303670 124303670 + Missense_Mutation SNP T T C TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 3 124303670 124303670 T C SNP KALRN ENST00000291478 human ensembl 74_37 +1 known missense c.2 p.M1T 1.000 NULL pfam_Prot_kinase_dom,pfam_DH-domain,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,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_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 tier1 - - 18 0 0.00 25 8 24.24 KIAA1467 0 genome.wustl.edu 37 12 13211414 13211414 + Missense_Mutation SNP G G A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 12 13211414 13211414 G A SNP KIAA1467 ENST00000197268 human ensembl 74_37 +1 known missense c.463 p.D155N 1.000 superfamily_Quinonprotein_ADH-like_supfam superfamily_Quinonprotein_ADH-like_supfam - no_errors KIAA1467 HGNC ENSG00000084444 tier1 - - 99 0 0.00 70 26 27.08 KLHDC2 0 genome.wustl.edu 37 14 50244592 50244592 + Silent SNP G G A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 14 50244592 50244592 G A SNP KLHDC2 ENST00000298307 human ensembl 74_37 +1 known silent c.387 p.V129 0.959 NULL pfam_Kelch_2 - no_errors KLHDC2 HGNC ENSG00000165516 tier1 - - 46 0 0.00 33 19 36.54 KLK5 0 genome.wustl.edu 37 19 51451943 51451943 + Missense_Mutation SNP C C T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 19 51451943 51451943 C T SNP KLK5 ENST00000336334 human ensembl 74_37 -1 known missense c.679 p.D227N 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK5 HGNC ENSG00000167754 tier1 - - 22 0 0.00 20 11 35.48 KMT2A 0 genome.wustl.edu 37 11 118392772 118392772 + Missense_Mutation SNP G G A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 11 118392772 118392772 G A SNP KMT2A ENST00000389506 human ensembl 74_37 +1 known missense c.11795 p.R3932H 1.000 pfam_SET_dom,smart_SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors KMT2A HGNC ENSG00000118058 tier1 - - 51 0 0.00 19 19 50.00 KMT2B 0 genome.wustl.edu 37 19 36212415 36212415 + Missense_Mutation SNP C C T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 19 36212415 36212415 C T SNP KMT2B ENST00000341701 human ensembl 74_37 +1 known missense c.1733 p.T578M 0.003 NULL NULL - no_errors KMT2B Uniprot_gn ENSG00000272333 tier1 - - 133 0 0.00 110 13 10.57 KMT2C 0 genome.wustl.edu 37 7 151878602 151878602 + Missense_Mutation SNP C C A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 7 151878602 151878602 C A SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known missense c.6343 p.A2115S 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 tier1 - - 44 0 0.00 20 17 45.95 KRI1 0 genome.wustl.edu 37 19 10673510 10673510 + Missense_Mutation SNP G G A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 19 10673510 10673510 G A SNP KRI1 ENST00000312962 human ensembl 74_37 -1 known missense c.296 p.S99L 0.031 NULL pfam_KRR1-interact_protein_1 - no_errors KRI1 HGNC ENSG00000129347 tier1 - - 47 0 0.00 45 14 23.73 KRT6A 0 genome.wustl.edu 37 12 52881551 52881551 + Missense_Mutation SNP T T G TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 12 52881551 52881551 T G SNP KRT6A ENST00000330722 human ensembl 74_37 -1 known missense c.1648 p.K550Q 0.810 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6A HGNC ENSG00000205420 48 0 0.00 60 4 6.25 LAMA5 0 genome.wustl.edu 37 20 60912751 60912751 + Missense_Mutation SNP C C T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 20 60912751 60912751 C T SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known missense c.2059 p.A687T 0.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 tier1 - - 41 0 0.00 35 5 12.50 LCT 0 genome.wustl.edu 37 2 136564749 136564749 + Nonsense_Mutation SNP G G T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 2 136564749 136564749 G T SNP LCT ENST00000264162 human ensembl 74_37 -1 known nonsense c.4122 p.Y1374* 0.786 superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCT HGNC ENSG00000115850 tier1 - - 59 0 0.00 71 4 5.33 LGR6 0 genome.wustl.edu 37 1 202287572 202287572 + Missense_Mutation SNP C C T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 1 202287572 202287572 C T SNP LGR6 ENST00000367278 human ensembl 74_37 +1 known missense c.2141 p.S714F 1.000 pfam_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn - no_errors LGR6 HGNC ENSG00000133067 tier1 - - 27 0 0.00 32 17 34.69 LINC00969 0 genome.wustl.edu 37 3 195428437 195428437 + RNA SNP G G C TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 3 195428437 195428437 G C SNP LINC00969 ENST00000445707 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors LINC00969 HGNC ENSG00000242086 tier1 - - 39 0 0.00 84 5 5.62 LINC01020 0 genome.wustl.edu 37 5 5057902 5057902 + RNA SNP T T C TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 5 5057902 5057902 T C SNP LINC01020 ENST00000507599 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LINC01020 HGNC ENSG00000215231 tier1 - - 80 0 0.00 51 29 35.80 LOC100293748 0 genome.wustl.edu 37 1 149262062 149262062 + RNA SNP A A G TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 1 149262062 149262062 A G SNP LOC100293748 ENST00000325963 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-403I13.4 Clone_based_vega_gene ENSG00000223779 tier1 - - 59 0 0.00 73 13 15.12 LOC100996870 0 genome.wustl.edu 37 9 66466650 66466650 + RNA SNP G G C TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 9 66466650 66466650 G C SNP LOC100996870 ENST00000424345 human ensembl 74_37 +1 known rna NULL NULL 0.105 - - - no_errors RP11-262H14.1 Clone_based_vega_gene ENSG00000238113 tier1 rs1133399 - 12 0 0.00 12 4 25.00 LOC101927209 0 genome.wustl.edu 37 1 142621403 142621403 + RNA SNP G G T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 1 142621403 142621403 G T SNP LOC101927209 ENST00000412092 human ensembl 74_37 +1 known rna NULL NULL 0.074 - - - no_errors RP11-417J8.3 Clone_based_vega_gene ENSG00000230880 tier1 rs2992190 - 17 0 0.00 19 7 26.92 LOC101927209 0 genome.wustl.edu 37 1 142670579 142670579 + RNA SNP T T C TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 1 142670579 142670579 T C SNP LOC101927209 ENST00000400755 human ensembl 74_37 +1 known rna NULL NULL 0.282 - - - no_errors RP11-417J8.3 Clone_based_vega_gene ENSG00000230880 tier1 rs200336596 - 29 0 0.00 21 5 19.23 LOC101927345 0 genome.wustl.edu 37 1 143394039 143394039 + RNA SNP G G A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 1 143394039 143394039 G A SNP LOC101927345 ENST00000415543 human ensembl 74_37 +1 known rna NULL NULL 0.010 - - - no_errors RP11-435B5.5 Clone_based_vega_gene ENSG00000238261 tier1 - - 278 0 0.00 301 47 13.47 LOC146880 0 genome.wustl.edu 37 17 62777687 62777687 + RNA SNP C C A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 17 62777687 62777687 C A SNP LOC146880 ENST00000400873 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors hsa-mir-6080 miRBase ENSG00000215769 tier1 - - 13 0 0.00 13 18 58.06 LRIG1 0 genome.wustl.edu 37 3 66436586 66436586 + Silent SNP G G A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 3 66436586 66436586 G A SNP LRIG1 ENST00000273261 human ensembl 74_37 -1 known silent c.1608 p.V536 0.994 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Cys-rich_flank_reg_C,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIG1 HGNC ENSG00000144749 tier1 - - 73 0 0.00 12 13 52.00 LRRC37A6P 0 genome.wustl.edu 37 10 27538198 27538198 + RNA SNP C C G TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 10 27538198 27538198 C G SNP LRRC37A6P ENST00000284414 human ensembl 74_37 -1 known rna NULL NULL 0.013 - - - no_errors LRRC37A6P HGNC ENSG00000230445 tier1 - - 110 0 0.00 95 41 30.15 MARK1 0 genome.wustl.edu 37 1 220835505 220835505 + Silent SNP G G A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 1 220835505 220835505 G A SNP MARK1 ENST00000366917 human ensembl 74_37 +1 known silent c.2385 p.L795 1.000 pfam_KA1_dom,superfamily_KA1/Ssp2_C pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors MARK1 HGNC ENSG00000116141 21 0 0.00 28 2 6.67 MIR663B 0 genome.wustl.edu 37 2 133014554 133014554 + RNA SNP G G T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 2 133014554 133014554 G T SNP MIR663B ENST00000408361 human ensembl 74_37 -1 known rna NULL NULL 0.025 - - - no_errors MIR663B HGNC ENSG00000221288 29 0 0.00 45 7 13.46 MRGPRF 0 genome.wustl.edu 37 11 68773294 68773294 + Missense_Mutation SNP C C T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 11 68773294 68773294 C T SNP MRGPRF ENST00000309099 human ensembl 74_37 -1 known missense c.484 p.V162M 0.509 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRF HGNC ENSG00000172935 tier1 - - 44 0 0.00 188 16 7.84 MRP63 0 genome.wustl.edu 37 13 21751269 21751269 + Missense_Mutation SNP G G C TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 13 21751269 21751269 G C SNP MRP63 ENST00000309594 human ensembl 74_37 +1 known missense c.214 p.E72Q 0.339 pirsf_Ribosomal_MRP63_mit pirsf_Ribosomal_MRP63_mit - no_errors MRP63 HGNC ENSG00000173141 tier1 - - 43 0 0.00 37 17 31.48 MUC4 0 genome.wustl.edu 37 3 195506118 195506118 + Silent SNP C C G TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 3 195506118 195506118 C G SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known silent c.12333 p.T4111 0.000 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 tier1 - - 40 0 0.00 37 12 24.49 MYH7B 0 genome.wustl.edu 37 20 33568835 33568835 + Splice_Site SNP G G C TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 20 33568835 33568835 G C SNP MYH7B ENST00000481922 human ensembl 74_37 +1 known splice_site c.NULL NULL 1.000 - - - no_errors MYH7B HGNC ENSG00000078814 tier1 - - 50 0 0.00 55 14 20.29 NAGLU 0 genome.wustl.edu 37 17 40695400 40695400 + Missense_Mutation SNP C C T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 17 40695400 40695400 C T SNP NAGLU ENST00000225927 human ensembl 74_37 +1 known missense c.1376 p.A459V 0.977 pfam_NAGLU_tim-barrel pfam_NAGLU_tim-barrel,superfamily_Glycoside_hydrolase_SF - no_errors NAGLU HGNC ENSG00000108784 33 0 0.00 60 4 6.25 NARF 0 genome.wustl.edu 37 17 80445912 80445912 + Missense_Mutation SNP A A T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 17 80445912 80445912 A T SNP NARF ENST00000309794 human ensembl 74_37 +1 known missense c.1250 p.H417L 0.005 pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like pfam_Fe_hydrogenase_lsu_C,pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like - no_errors NARF HGNC ENSG00000141562 tier1 - - 24 0 0.00 26 6 18.75 NEFH 0 genome.wustl.edu 37 22 29879448 29879448 + Missense_Mutation SNP G G A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 22 29879448 29879448 G A SNP NEFH ENST00000310624 human ensembl 74_37 +1 known missense c.968 p.R323H 1.000 pfam_IF pfam_IF,pfam_DUF1388 - no_errors NEFH HGNC ENSG00000100285 tier1 - - 21 0 0.00 22 10 31.25 NOTCH3 0 genome.wustl.edu 37 19 15292532 15292532 + Nonsense_Mutation SNP G G A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 19 15292532 15292532 G A SNP NOTCH3 ENST00000263388 human ensembl 74_37 -1 known nonsense c.2647 p.R883* 0.993 pirsf_Notch,pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 tier1 - - 141 0 0.00 116 56 32.37 NPEPPS 0 genome.wustl.edu 37 17 45668212 45668212 + Missense_Mutation SNP G G A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 17 45668212 45668212 G A SNP NPEPPS ENST00000322157 human ensembl 74_37 +1 known missense c.1225 p.E409K 1.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors NPEPPS HGNC ENSG00000141279 tier1 - - 174 0 0.00 182 25 12.08 NPHP3 0 genome.wustl.edu 37 3 132415603 132415604 + Frame_Shift_Ins INS - - A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 3 132415603 132415604 - A INS NPHP3 ENST00000337331 human ensembl 74_37 -1 known frame_shift_ins c.2143_2142 p.V714fs 1.000:1.000 superfamily_P-loop_NTPase pfam_TPR_1,pfam_TPR-3,superfamily_P-loop_NTPase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NPHP3 HGNC ENSG00000113971 tier1 48 0 0.00 52 17 24.64 NR2E1 0 genome.wustl.edu 37 6 108497939 108497939 + Silent SNP C C A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 6 108497939 108497939 C A SNP NR2E1 ENST00000368986 human ensembl 74_37 +1 known silent c.492 p.P164 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt - no_errors NR2E1 HGNC ENSG00000112333 tier1 - - 12 0 0.00 18 6 25.00 NSMAF 0 genome.wustl.edu 37 8 59506838 59506838 + Missense_Mutation SNP C C A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 8 59506838 59506838 C A SNP NSMAF ENST00000427130 human ensembl 74_37 -1 known missense c.1997 p.G666V 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_BEACH_dom,pfam_WD40_repeat,pfam_GRAM,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,smart_GRAM,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NSMAF HGNC ENSG00000035681 tier1 - - 78 0 0.00 105 23 17.97 NT5C1B 0 genome.wustl.edu 37 2 18768420 18768420 + Missense_Mutation SNP G G T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 2 18768420 18768420 G T SNP NT5C1B ENST00000359846 human ensembl 74_37 -1 known missense c.140 p.P47Q 1.000 NULL pfam_5-nucleotidase - no_errors NT5C1B HGNC ENSG00000185013 tier1 - - 22 0 0.00 5 12 70.59 NXPE2 0 genome.wustl.edu 37 11 114577254 114577254 + Missense_Mutation SNP G G A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 11 114577254 114577254 G A SNP NXPE2 ENST00000389586 human ensembl 74_37 +1 known missense c.1282 p.E428K 1.000 NULL pfam_NXPH/NXPE,superfamily_Ig_E-set - no_errors NXPE2 HGNC ENSG00000204361 tier1 - - 88 0 0.00 33 27 45.00 OBSCN 0 genome.wustl.edu 37 1 228560180 228560180 + Missense_Mutation SNP C C T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 1 228560180 228560180 C T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.21701 p.S7234L 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 tier1 - - 64 0 0.00 47 30 38.96 OLFM1 0 genome.wustl.edu 37 9 137968928 137968928 + Missense_Mutation SNP G G T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 9 137968928 137968928 G T SNP OLFM1 ENST00000371799 human ensembl 74_37 +1 putative missense c.367 p.G123C 0.001 NULL NULL - no_errors OLFM1 HGNC ENSG00000130558 tier1 - - 68 0 0.00 11 66 85.71 OR2F2 0 genome.wustl.edu 37 7 143632543 143632543 + Missense_Mutation SNP A A T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 7 143632543 143632543 A T SNP OR2F2 ENST00000408955 human ensembl 74_37 +1 known missense c.218 p.Y73F 0.710 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 OR2F2 HGNC ENSG00000221910 tier1 - - 53 0 0.00 15 22 59.46 OR2J1 0 genome.wustl.edu 37 6 29069380 29069380 + Missense_Mutation SNP G G A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 6 29069380 29069380 G A SNP OR2J1 ENST00000377171 human ensembl 74_37 +1 known missense c.661 p.A221T 0.003 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR2J1 HGNC ENSG00000204702 tier1 - - 56 0 0.00 47 29 38.16 OR4N2 0 genome.wustl.edu 37 14 20296519 20296519 + Silent SNP G G A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 14 20296519 20296519 G A SNP OR4N2 ENST00000315947 human ensembl 74_37 +1 known silent c.912 p.K304 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4N2 HGNC ENSG00000176294 43 0 0.00 63 4 5.97 OR4S2 0 genome.wustl.edu 37 11 55418727 55418727 + Frame_Shift_Del DEL G G - TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 11 55418727 55418727 G - DEL OR4S2 ENST00000312422 human ensembl 74_37 +1 known frame_shift_del c.348 p.A117fs 1.000 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_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4S2 HGNC ENSG00000174982 tier1 33 0 0.00 9 22 70.97 OR5T1 0 genome.wustl.edu 37 11 56043399 56043399 + Silent SNP C C A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 11 56043399 56043399 C A SNP OR5T1 ENST00000313033 human ensembl 74_37 +1 known silent c.285 p.V95 0.021 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5T1 HGNC ENSG00000181698 tier1 - - 61 0 0.00 49 26 34.67 OR6S1 0 genome.wustl.edu 37 14 21109503 21109503 + Silent SNP C C T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 14 21109503 21109503 C T SNP OR6S1 ENST00000320704 human ensembl 74_37 -1 known silent c.348 p.L116 0.428 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 OR6S1 HGNC ENSG00000181803 tier1 - - 43 0 0.00 38 6 13.64 OVCH1 0 genome.wustl.edu 37 12 29626014 29626014 + Silent SNP T T C TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 12 29626014 29626014 T C SNP OVCH1 ENST00000318184 human ensembl 74_37 -1 known silent c.1623 p.P541 0.000 NULL pfam_Peptidase_S1,pfam_CUB_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,smart_Peptidase_S1,smart_CUB_dom,pfscan_CUB_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors OVCH1 HGNC ENSG00000187950 tier1 - - 43 0 0.00 34 16 32.00 PDE4DIP 0 genome.wustl.edu 37 1 144916732 144916732 + Silent SNP C C T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 1 144916732 144916732 C T SNP PDE4DIP ENST00000369356 human ensembl 74_37 -1 known silent c.1623 p.L541 1.000 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 tier1 - - 74 0 0.00 87 25 22.32 PDS5B 0 genome.wustl.edu 37 13 33309450 33309450 + Missense_Mutation SNP C C T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 13 33309450 33309450 C T SNP PDS5B ENST00000315596 human ensembl 74_37 +1 known missense c.2389 p.L797F 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors PDS5B HGNC ENSG00000083642 tier1 - - 63 0 0.00 30 21 41.18 PDS5B 0 genome.wustl.edu 37 13 33309466 33309466 + Missense_Mutation SNP G G T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 13 33309466 33309466 G T SNP PDS5B ENST00000315596 human ensembl 74_37 +1 known missense c.2405 p.R802L 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors PDS5B HGNC ENSG00000083642 51 0 0.00 49 3 5.77 PIEZO2 0 genome.wustl.edu 37 18 10794790 10794790 + Missense_Mutation SNP G G T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 18 10794790 10794790 G T SNP PIEZO2 ENST00000582913 human ensembl 74_37 -1 known missense c.1738 p.P580T 0.975 NULL NULL - no_errors PIEZO2 HGNC ENSG00000154864 tier1 - - 61 0 0.00 66 4 5.71 PIGB 0 genome.wustl.edu 37 15 55621954 55621954 + Missense_Mutation SNP G G T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 15 55621954 55621954 G T SNP PIGB ENST00000164305 human ensembl 74_37 +1 known missense c.555 p.W185C 1.000 pfam_GPI_mannosylTrfase pfam_GPI_mannosylTrfase - no_errors PIGB HGNC ENSG00000069943 tier1 - - 59 0 0.00 101 18 15.13 PKP2 0 genome.wustl.edu 37 12 32977060 32977060 + Silent SNP C C T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 12 32977060 32977060 C T SNP PKP2 ENST00000070846 human ensembl 74_37 -1 known silent c.1725 p.A575 0.980 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP2 HGNC ENSG00000057294 tier1 - - 54 0 0.00 63 10 13.70 PLEKHG3 0 genome.wustl.edu 37 14 65197822 65197822 + Missense_Mutation SNP A A C TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 14 65197822 65197822 A C SNP PLEKHG3 ENST00000394691 human ensembl 74_37 +1 known missense c.784 p.M262L 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG3 HGNC ENSG00000126822 tier1 - - 36 0 0.00 32 21 39.62 PLEKHG6 0 genome.wustl.edu 37 12 6436429 6436429 + Missense_Mutation SNP G G T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 12 6436429 6436429 G T SNP PLEKHG6 ENST00000011684 human ensembl 74_37 +1 known missense c.1680 p.E560D 0.120 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG6 HGNC ENSG00000008323 tier1 - - 46 0 0.00 49 4 7.55 POLA2 0 genome.wustl.edu 37 11 65063037 65063037 + Missense_Mutation SNP G G T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 11 65063037 65063037 G T SNP POLA2 ENST00000265465 human ensembl 74_37 +1 known missense c.1487 p.S496I 1.000 pfam_DNA_pol_alpha/epsilon_bsu,pirsf_DNA_pol_alpha_bsu pfam_Pol_alpha_B_N,pfam_DNA_pol_alpha/epsilon_bsu,pirsf_DNA_pol_alpha_bsu - no_errors POLA2 HGNC ENSG00000014138 tier1 - - 27 0 0.00 31 4 11.43 PPHLN1 0 genome.wustl.edu 37 12 42778782 42778782 + Silent SNP A A G TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 12 42778782 42778782 A G SNP PPHLN1 ENST00000395568 human ensembl 74_37 +1 known silent c.552 p.E184 1.000 NULL NULL - no_errors PPHLN1 HGNC ENSG00000134283 tier1 - - 83 0 0.00 76 24 24.00 PPP2R1A 0 genome.wustl.edu 37 19 52724234 52724234 + Missense_Mutation SNP T T C TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 19 52724234 52724234 T C SNP PPP2R1A ENST00000322088 human ensembl 74_37 +1 known missense c.1366 p.Y456H 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP2R1A HGNC ENSG00000105568 tier1 - - 34 0 0.00 22 15 40.54 PRTN3 0 genome.wustl.edu 37 19 846367 846367 + Missense_Mutation SNP G G A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 19 846367 846367 G A SNP PRTN3 ENST00000234347 human ensembl 74_37 +1 known missense c.590 p.G197D 0.580 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRTN3 HGNC ENSG00000196415 tier1 - - 51 0 0.00 24 21 46.67 PYGB 0 genome.wustl.edu 37 20 25277028 25277028 + Missense_Mutation SNP A A G TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 20 25277028 25277028 A G SNP PYGB ENST00000216962 human ensembl 74_37 +1 known missense c.2402 p.K801R 1.000 pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGB HGNC ENSG00000100994 tier1 - - 67 0 0.00 71 21 22.83 PYGO1 0 genome.wustl.edu 37 15 55839259 55839259 + Missense_Mutation SNP G G T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 15 55839259 55839259 G T SNP PYGO1 ENST00000302000 human ensembl 74_37 -1 known missense c.222 p.D74E 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PYGO1 HGNC ENSG00000171016 49 0 0.00 63 4 5.97 RAP1GAP2 0 genome.wustl.edu 37 17 2901588 2901588 + Missense_Mutation SNP C C A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 17 2901588 2901588 C A SNP RAP1GAP2 ENST00000254695 human ensembl 74_37 +1 known missense c.1118 p.P373Q 1.000 pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom - no_errors RAP1GAP2 HGNC ENSG00000132359 tier1 - - 44 0 0.00 39 13 25.00 RAPSN 0 genome.wustl.edu 37 11 47460440 47460440 + Missense_Mutation SNP G G T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 11 47460440 47460440 G T SNP RAPSN ENST00000298854 human ensembl 74_37 -1 known missense c.1009 p.R337S 1.000 NULL pfam_Rapsyn_myristoylation/link_N,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING,prints_Postsynaptic - no_errors RAPSN HGNC ENSG00000165917 tier1 - - 43 0 0.00 28 25 47.17 RICTOR 0 genome.wustl.edu 37 5 38945607 38945607 + Missense_Mutation SNP A A T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 5 38945607 38945607 A T SNP RICTOR ENST00000296782 human ensembl 74_37 -1 known missense c.4691 p.I1564K 0.925 NULL superfamily_ARM-type_fold - no_errors RICTOR HGNC ENSG00000164327 tier1 - - 68 0 0.00 43 19 30.65 RNF39 0 genome.wustl.edu 37 6 30041253 30041253 + Silent SNP A A G TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 6 30041253 30041253 A G SNP RNF39 ENST00000244360 human ensembl 74_37 -1 known silent c.570 p.D190 0.507 NULL pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors RNF39 HGNC ENSG00000204618 tier1 - - 86 0 0.00 74 27 26.73 RP1L1 0 genome.wustl.edu 37 8 10468842 10468842 + Silent SNP C C A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 8 10468842 10468842 C A SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known silent c.2766 p.L922 0.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 tier1 - - 57 0 0.00 28 42 60.00 RPGRIP1L 0 genome.wustl.edu 37 16 53720465 53720465 + Missense_Mutation SNP C C G TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 16 53720465 53720465 C G SNP RPGRIP1L ENST00000379925 human ensembl 74_37 -1 known missense c.656 p.R219T 0.990 NULL pfam_DUF3250,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RPGRIP1L HGNC ENSG00000103494 tier1 - - 68 0 0.00 59 34 36.56 RPGRIP1L 0 genome.wustl.edu 37 16 53679899 53679899 + Missense_Mutation SNP G G T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 16 53679899 53679899 G T SNP RPGRIP1L ENST00000379925 human ensembl 74_37 -1 known missense c.2321 p.P774H 1.000 superfamily_C2_dom pfam_DUF3250,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RPGRIP1L HGNC ENSG00000103494 47 0 0.00 46 4 8.00 RTN4R 0 genome.wustl.edu 37 22 20230142 20230142 + Missense_Mutation SNP C C T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 22 20230142 20230142 C T SNP RTN4R ENST00000043402 human ensembl 74_37 -1 known missense c.514 p.D172N 0.952 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors RTN4R HGNC ENSG00000040608 30 0 0.00 23 2 8.00 SCAND2P 0 genome.wustl.edu 37 15 85178634 85178635 + RNA INS - - TT TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 15 85178634 85178635 - TT INS SCAND2P ENST00000427525 human ensembl 74_37 +1 known rna NULL NULL 0.053:0.188 - - - no_errors SCAND2P HGNC ENSG00000176700 tier1 11 0 0.00 13 4 23.53 SDHAP1 0 genome.wustl.edu 37 3 195717061 195717061 + RNA SNP C C A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 3 195717061 195717061 C A SNP SDHAP1 ENST00000413474 human ensembl 74_37 -1 known rna NULL NULL 0.825 - - - no_errors SDHAP1 HGNC ENSG00000185485 9 0 0.00 11 4 26.67 SDHC 0 genome.wustl.edu 37 1 161284244 161284244 + RNA SNP C C T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 1 161284244 161284244 C T SNP SDHC ENST00000515731 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SDHC HGNC ENSG00000143252 tier1 - - 53 0 0.00 30 4 11.76 SEC31A 0 genome.wustl.edu 37 4 83784392 83784392 + RNA SNP G G C TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 4 83784392 83784392 G C SNP SEC31A ENST00000436790 human ensembl 74_37 -1 known rna NULL NULL 0.075 - - - no_errors SEC31A HGNC ENSG00000138674 tier1 - - 81 0 0.00 82 48 36.92 SEPT12 0 genome.wustl.edu 37 16 4827874 4827874 + Missense_Mutation SNP G G A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 16 4827874 4827874 G A SNP SEPT12 ENST00000268231 human ensembl 74_37 -1 known missense c.1001 p.S334F 0.020 pirsf_Septin pfam_Cell_div_GTP-bd,pfam_AIG1,superfamily_P-loop_NTPase,pirsf_Septin - no_errors SEPT12 HGNC ENSG00000140623 tier1 - - 53 0 0.00 37 23 38.33 SETD2 0 genome.wustl.edu 37 3 47098822 47098822 + Missense_Mutation SNP G G A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 3 47098822 47098822 G A SNP SETD2 ENST00000409792 human ensembl 74_37 -1 known missense c.6452 p.P2151L 1.000 NULL pfam_SRI,pfam_SET_dom,pfam_WW_dom,superfamily_WW_dom,superfamily_Ferritin-like_SF,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_dom,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_dom - no_errors SETD2 HGNC ENSG00000181555 tier1 - - 43 0 0.00 16 26 61.90 SFMBT2 0 genome.wustl.edu 37 10 7214488 7214488 + Missense_Mutation SNP G G A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 10 7214488 7214488 G A SNP SFMBT2 ENST00000361972 human ensembl 74_37 -1 known missense c.2120 p.S707F 0.925 superfamily_ARM-type_fold pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT2 HGNC ENSG00000198879 54 0 0.00 68 4 5.56 SFT2D1 0 genome.wustl.edu 37 6 166733495 166733495 + RNA SNP A A G TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 6 166733495 166733495 A G SNP SFT2D1 ENST00000487841 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SFT2D1 HGNC ENSG00000198818 tier1 - - 12 0 0.00 9 12 57.14 SGTB 0 genome.wustl.edu 37 5 65000152 65000152 + Missense_Mutation SNP G G C TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 5 65000152 65000152 G C SNP SGTB ENST00000381007 human ensembl 74_37 -1 known missense c.328 p.Q110E 0.997 pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SGTB HGNC ENSG00000197860 tier1 - - 89 0 0.00 104 52 33.33 SLC17A6 0 genome.wustl.edu 37 11 22360130 22360130 + Missense_Mutation SNP G G C TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 11 22360130 22360130 G C SNP SLC17A6 ENST00000263160 human ensembl 74_37 +1 known missense c.51 p.K17N 1.000 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A6 HGNC ENSG00000091664 tier1 - - 87 0 0.00 54 21 28.00 SLC35C2 0 genome.wustl.edu 37 20 44978913 44978913 + RNA SNP C C A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 20 44978913 44978913 C A SNP SLC35C2 ENST00000493599 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SLC35C2 HGNC ENSG00000080189 tier1 - - 34 0 0.00 37 4 9.76 SLC43A2 0 genome.wustl.edu 37 17 1479963 1479963 + Silent SNP G G A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 17 1479963 1479963 G A SNP SLC43A2 ENST00000382147 human ensembl 74_37 -1 known silent c.1488 p.S496 0.852 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC43A2 HGNC ENSG00000167703 tier1 rs142934102 - 34 0 0.00 34 14 29.17 SLC4A10 0 genome.wustl.edu 37 2 162757652 162757652 + RNA SNP A A G TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 2 162757652 162757652 A G SNP SLC4A10 ENST00000493021 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors SLC4A10 HGNC ENSG00000144290 tier1 - - 14 0 0.00 15 7 31.82 SLC50A1 0 genome.wustl.edu 37 1 155110819 155110820 + RNA INS - - CAG TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 1 155110819 155110820 - CAG INS SLC50A1 ENST00000368405 human ensembl 74_37 +1 known rna NULL NULL 0.110:0.111 - - - no_errors SLC50A1 HGNC ENSG00000169241 tier1 51 0 0.00 38 21 35.59 SMAD4 0 genome.wustl.edu 37 18 48603032 48603032 + Nonsense_Mutation SNP C C T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 18 48603032 48603032 C T SNP SMAD4 ENST00000342988 human ensembl 74_37 +1 known nonsense c.1333 p.R445* 1.000 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD4 HGNC ENSG00000141646 tier1 - - 71 0 0.00 30 34 53.12 SOAT2 0 genome.wustl.edu 37 12 53497990 53497990 + Silent SNP G G A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 12 53497990 53497990 G A SNP SOAT2 ENST00000301466 human ensembl 74_37 +1 known silent c.138 p.E46 1.000 NULL pfam_MBOAT_fam - no_errors SOAT2 HGNC ENSG00000167780 tier1 - - 26 0 0.00 26 16 38.10 SON 0 genome.wustl.edu 37 21 34927209 34927209 + Missense_Mutation SNP G G T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 21 34927209 34927209 G T SNP SON ENST00000356577 human ensembl 74_37 +1 known missense c.5672 p.R1891L 0.998 NULL pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_dsRNA-bd_dom - no_errors SON HGNC ENSG00000159140 63 0 0.00 37 2 5.13 SPATA31E1 0 genome.wustl.edu 37 9 90503589 90503589 + Missense_Mutation SNP G G C TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 9 90503589 90503589 G C SNP SPATA31E1 ENST00000325643 human ensembl 74_37 +1 known missense c.4187 p.R1396T 0.000 NULL NULL - no_errors SPATA31E1 HGNC ENSG00000177992 49 0 0.00 74 4 5.13 SPTBN4 0 genome.wustl.edu 37 19 41019376 41019376 + Missense_Mutation SNP G G A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 19 41019376 41019376 G A SNP SPTBN4 ENST00000352632 human ensembl 74_37 +1 known missense c.2680 p.E894K 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN4 HGNC ENSG00000160460 11 0 0.00 12 5 29.41 STAG3L5P-PVRIG2P-PILRB 0 genome.wustl.edu 37 7 99943553 99943553 + RNA DEL T T - TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 7 99943553 99943553 T - DEL STAG3L5P-PVRIG2P-PILRB ENST00000310771 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors STAG3L5P-PVRIG2P-PILRB HGNC ENSG00000272752 tier1 31 0 0.00 49 5 9.26 SZT2 0 genome.wustl.edu 37 1 43891189 43891189 + Missense_Mutation SNP A A T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 1 43891189 43891189 A T SNP SZT2 ENST00000562955 human ensembl 74_37 +1 known missense c.2690 p.E897V 1.000 NULL NULL - no_errors SZT2 HGNC ENSG00000198198 tier1 - - 16 0 0.00 11 5 31.25 TAGAP 0 genome.wustl.edu 37 6 159457656 159457656 + Missense_Mutation SNP C C T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 6 159457656 159457656 C T SNP TAGAP ENST00000367066 human ensembl 74_37 -1 known missense c.1399 p.A467T 0.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors TAGAP HGNC ENSG00000164691 tier1 - - 37 0 0.00 41 18 30.51 TAS2R39 0 genome.wustl.edu 37 7 142880943 142880943 + Frame_Shift_Del DEL C C - TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 7 142880943 142880943 C - DEL TAS2R39 ENST00000446620 human ensembl 74_37 +1 known frame_shift_del c.432 p.L146fs 0.032 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R39 HGNC ENSG00000236398 tier1 34 0 0.00 34 4 10.53 TCF7L1 0 genome.wustl.edu 37 2 85361007 85361007 + Nonsense_Mutation SNP C C A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 2 85361007 85361007 C A SNP TCF7L1 ENST00000282111 human ensembl 74_37 +1 known nonsense c.200 p.S67* 1.000 pfam_CTNNB1-bd_N pfam_CTNNB1-bd_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TCF7L1 HGNC ENSG00000152284 tier1 - - 48 0 0.00 38 15 28.30 TEAD4 0 genome.wustl.edu 37 12 3147205 3147205 + Silent SNP C C A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 12 3147205 3147205 C A SNP TEAD4 ENST00000359864 human ensembl 74_37 +1 known silent c.969 p.P323 0.016 pfam_TEA/ATTS,pirsf_TEF pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS - no_errors TEAD4 HGNC ENSG00000197905 30 0 0.00 27 2 6.90 TMC5 0 genome.wustl.edu 37 16 19475199 19475199 + Silent SNP C C T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 16 19475199 19475199 C T SNP TMC5 ENST00000396229 human ensembl 74_37 +1 known silent c.1338 p.V446 0.999 NULL pfam_TMC - no_errors TMC5 HGNC ENSG00000103534 tier1 - - 51 0 0.00 24 15 38.46 TMEM249 0 genome.wustl.edu 37 8 145577021 145577021 + Missense_Mutation SNP C C A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 8 145577021 145577021 C A SNP TMEM249 ENST00000398633 human ensembl 74_37 -1 known missense c.695 p.S232I 0.001 NULL NULL - no_errors TMEM249 HGNC ENSG00000214597 32 0 0.00 96 11 10.28 TNS1 0 genome.wustl.edu 37 2 218750792 218750792 + Nonsense_Mutation SNP G G A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 2 218750792 218750792 G A SNP TNS1 ENST00000171887 human ensembl 74_37 -1 known nonsense c.640 p.Q214* 1.000 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pfscan_Tensin_phosphatase_C2-dom 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 - - 33 0 0.00 42 4 8.70 TOP3A 0 genome.wustl.edu 37 17 18217912 18217912 + Splice_Site SNP C C T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 17 18217912 18217912 C T SNP TOP3A ENST00000321105 human ensembl 74_37 -1 known splice_site c.180+1 e1+1 1.000 - - - no_errors TOP3A HGNC ENSG00000177302 20 0 0.00 37 3 7.50 TP53 0 genome.wustl.edu 37 17 7578479 7578479 + Missense_Mutation SNP G G A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 17 7578479 7578479 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.451 p.P151S 0.999 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 rs28934874 - 15 0 0.00 5 31 86.11 TPO 0 genome.wustl.edu 37 2 1500468 1500468 + Nonsense_Mutation SNP G G T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 2 1500468 1500468 G T SNP TPO ENST00000329066 human ensembl 74_37 +1 known nonsense c.2317 p.E773* 0.000 superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd_dom,superfamily_Haem_peroxidase,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors TPO HGNC ENSG00000115705 tier1 - - 37 0 0.00 52 4 7.14 TRAF1 0 genome.wustl.edu 37 9 123688278 123688278 + Missense_Mutation SNP C C T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 9 123688278 123688278 C T SNP TRAF1 ENST00000373887 human ensembl 74_37 -1 known missense c.76 p.V26I 0.000 pirsf_TNF_rcpt--assoc_TRAF pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH - no_errors TRAF1 HGNC ENSG00000056558 tier1 - - 46 0 0.00 60 33 35.48 TRIM17 0 genome.wustl.edu 37 1 228602544 228602544 + Missense_Mutation SNP T T A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 1 228602544 228602544 T A SNP TRIM17 ENST00000295033 human ensembl 74_37 -1 known missense c.230 p.N77I 1.000 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM17 HGNC ENSG00000162931 tier1 - - 67 0 0.00 58 23 28.05 TRIP4 0 genome.wustl.edu 37 15 64692982 64692982 + Nonsense_Mutation SNP C C G TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 15 64692982 64692982 C G SNP TRIP4 ENST00000261884 human ensembl 74_37 +1 known nonsense c.659 p.S220* 1.000 NULL pfam_ASCH_domain,pfam_Znf_C2HC5,superfamily_PUA-like_domain - no_errors TRIP4 HGNC ENSG00000103671 tier1 - - 66 0 0.00 108 66 37.93 TUBB6 0 genome.wustl.edu 37 18 12325138 12325138 + Missense_Mutation SNP T T G TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 18 12325138 12325138 T G SNP TUBB6 ENST00000317702 human ensembl 74_37 +1 known missense c.350 p.L117R 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Gamma_tubulin,prints_Alpha_tubulin - no_errors TUBB6 HGNC ENSG00000176014 tier1 - - 39 0 0.00 41 12 22.64 TUBB6 0 genome.wustl.edu 37 18 12325139 12325139 + Silent SNP G G T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 18 12325139 12325139 G T SNP TUBB6 ENST00000317702 human ensembl 74_37 +1 known silent c.351 p.L117 0.999 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Gamma_tubulin,prints_Alpha_tubulin - no_errors TUBB6 HGNC ENSG00000176014 tier1 - - 38 0 0.00 40 12 23.08 TUBE1 0 genome.wustl.edu 37 6 112392560 112392560 + RNA SNP G G A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 6 112392560 112392560 G A SNP TUBE1 ENST00000604814 human ensembl 74_37 -1 known rna NULL NULL 0.023 - - - no_errors TUBE1 HGNC ENSG00000074935 tier1 - - 64 0 0.00 43 22 33.85 TUBGCP3 0 genome.wustl.edu 37 13 113201973 113201973 + Nonsense_Mutation SNP G G A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 13 113201973 113201973 G A SNP TUBGCP3 ENST00000261965 human ensembl 74_37 -1 known nonsense c.1129 p.R377* 1.000 pfam_TUBGCP pfam_TUBGCP - no_errors TUBGCP3 HGNC ENSG00000126216 25 0 0.00 34 3 8.11 UTP20 0 genome.wustl.edu 37 12 101728221 101728221 + Missense_Mutation SNP G G C TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 12 101728221 101728221 G C SNP UTP20 ENST00000261637 human ensembl 74_37 +1 known missense c.3580 p.E1194Q 1.000 superfamily_ARM-type_fold pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC ENSG00000120800 tier1 - - 29 0 0.00 36 6 14.29 VPS13C 0 genome.wustl.edu 37 15 62207860 62207860 + Missense_Mutation SNP T T A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 15 62207860 62207860 T A SNP VPS13C ENST00000261517 human ensembl 74_37 -1 known missense c.8417 p.K2806M 1.000 pfam_VPSAP_dom pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 tier1 - - 64 0 0.00 73 36 33.03 WASH3P 0 genome.wustl.edu 37 15 102506815 102506816 + RNA DEL CC CC - TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 CC CC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 15 102506815 102506816 CC - DEL WASH3P ENST00000559884 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors WASH3P HGNC ENSG00000185596 tier1 8 0 0.00 9 4 30.77 WDR55 0 genome.wustl.edu 37 5 140049102 140049102 + Frame_Shift_Del DEL A A - TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 5 140049102 140049102 A - DEL WDR55 ENST00000358337 human ensembl 74_37 +1 known frame_shift_del c.1015 p.K341fs 1.000 pirsf_WD_repeat_p55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p55,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR55 HGNC ENSG00000120314 tier1 19 0 0.00 21 2 8.70 WIZ 0 genome.wustl.edu 37 19 15538113 15538113 + Missense_Mutation SNP G G A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 19 15538113 15538113 G A SNP WIZ ENST00000389282 human ensembl 74_37 -1 known missense c.3332 p.A1111V 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors WIZ HGNC ENSG00000011451 tier1 - - 79 0 0.00 57 4 6.56 ZCCHC24 0 genome.wustl.edu 37 10 81192403 81192403 + Missense_Mutation SNP C C T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 10 81192403 81192403 C T SNP ZCCHC24 ENST00000372336 human ensembl 74_37 -1 known missense c.358 p.E120K 1.000 superfamily_Znf_CCHC superfamily_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC24 HGNC ENSG00000165424 tier1 rs141500674 - 28 0 0.00 32 18 36.00 ZIC5 0 genome.wustl.edu 37 13 100622679 100622679 + Silent SNP C C T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 13 100622679 100622679 C T SNP ZIC5 ENST00000267294 human ensembl 74_37 -1 known silent c.1251 p.P417 0.808 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC5 HGNC ENSG00000139800 17 0 0.00 22 2 8.33 ZMYM6 0 genome.wustl.edu 37 1 35455732 35455732 + RNA SNP T T C TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 1 35455732 35455732 T C SNP ZMYM6 ENST00000493328 human ensembl 74_37 -1 known rna NULL NULL 0.017 - - - no_errors ZMYM6 HGNC ENSG00000163867 tier1 - - 8 0 0.00 5 8 61.54 ZNF493 0 genome.wustl.edu 37 19 21606488 21606488 + Missense_Mutation SNP C C T TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 19 21606488 21606488 C T SNP ZNF493 ENST00000355504 human ensembl 74_37 +1 known missense c.643 p.H215Y 0.994 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF493 HGNC ENSG00000196268 tier1 - - 91 0 0.00 58 37 38.95 ZNF766 0 genome.wustl.edu 37 19 52794236 52794236 + Missense_Mutation SNP C C A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 19 52794236 52794236 C A SNP ZNF766 ENST00000359102 human ensembl 74_37 +1 known missense c.1237 p.L413I 0.004 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 ZNF766 HGNC ENSG00000196214 tier1 - - 64 0 0.00 59 23 28.05 ZNF816-ZNF321P 0 genome.wustl.edu 37 19 53431622 53431622 + RNA DEL G G - TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 19 53431622 53431622 G - DEL ZNF816-ZNF321P ENST00000313956 human ensembl 74_37 -1 known rna NULL NULL 0.082 - - - no_errors ZNF816-ZNF321P HGNC ENSG00000213801 tier1 21 0 0.00 27 2 6.90 ZNFX1 0 genome.wustl.edu 37 20 47866096 47866096 + Silent SNP G G A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26db3638-64d4-4301-b3e0-2b75879facdf bf56eaf2-cc4f-44bf-aa68-18b6471a9581 20 47866096 47866096 G A SNP ZNFX1 ENST00000371752 human ensembl 74_37 -1 known silent c.3465 p.T1155 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_Znf_NFX1 - no_errors ZNFX1 HGNC ENSG00000124201 tier1 - - 32 0 0.00 38 17 30.91