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 AGTRAP 0 genome.wustl.edu 37 1 11808641 11808641 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 1 11808641 11808641 G A SNP AGTRAP ENST00000314340 human ensembl 74_37 +1 known missense c.338 p.R113H 0.996 pfam_Angiotensin_II_typ1_rcpt-assoc,smart_Angiotensin_II_typ1_rcpt-assoc pfam_Angiotensin_II_typ1_rcpt-assoc,smart_Angiotensin_II_typ1_rcpt-assoc - no_errors AGTRAP HGNC ENSG00000177674 64 0 0 39 18 31.5789 NOTCH2 0 genome.wustl.edu 37 1 120462932 120462932 + Missense_Mutation SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 1 120462932 120462932 C T SNP NOTCH2 ENST00000256646 human ensembl 74_37 -1 known missense c.5399 p.R1800H 0.999 pirsf_Notch pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,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_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 119 0 0 104 20 16.129 PRDM2 0 genome.wustl.edu 37 1 14105854 14105854 + Missense_Mutation SNP G G C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 1 14105854 14105854 G C SNP PRDM2 ENST00000235372 human ensembl 74_37 +1 known missense c.1564 p.E522Q 1.000 pirsf_RIZ_retinblastoma-bd_prot pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM2 HGNC ENSG00000116731 88 0 0 74 5 6.32911 ENSG00000234978 0 genome.wustl.edu 37 1 142803429 142803429 + RNA SNP A A C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 1 142803429 142803429 A C SNP ENSG00000234978 ENST00000423385 human ensembl 74_37 -1 known rna NULL NULL 0.007 - - - no_errors RP11-423O2.5 Clone_based_vega_gene ENSG00000234978 60 0 0 43 4 8.51064 MLLT11 0 genome.wustl.edu 37 1 151039794 151039794 + Missense_Mutation SNP C C G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 1 151039794 151039794 C G SNP MLLT11 ENST00000368921 human ensembl 74_37 +1 known missense c.94 p.L32V 0.999 NULL NULL - no_errors MLLT11 HGNC ENSG00000213190 191 0 0 177 62 25.9414 TCHH 0 genome.wustl.edu 37 1 152084947 152084947 + Missense_Mutation SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 1 152084947 152084947 C T SNP TCHH ENST00000368804 human ensembl 74_37 -1 known missense c.746 p.R249H 0.024 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 254 0 0 195 68 25.8555 PGLYRP3 0 genome.wustl.edu 37 1 153274943 153274943 + Missense_Mutation SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 1 153274943 153274943 C T SNP PGLYRP3 ENST00000290722 human ensembl 74_37 -1 known missense c.670 p.V224I 0.000 pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain - no_errors PGLYRP3 HGNC ENSG00000159527 233 0 0 197 70 26.2172 NPR1 0 genome.wustl.edu 37 1 153653765 153653765 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 1 153653765 153653765 G A SNP NPR1 ENST00000368680 human ensembl 74_37 +1 known missense c.1031 p.G344D 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors NPR1 HGNC ENSG00000169418 72 0 0 51 40 43.956 MSTO1 0 genome.wustl.edu 37 1 155583270 155583270 + Missense_Mutation SNP C C A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 1 155583270 155583270 C A SNP MSTO1 ENST00000245564 human ensembl 74_37 +1 known missense c.1301 p.T434K 0.580 NULL pfam_Misato_II_tubulin-like,pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase - no_errors MSTO1 HGNC ENSG00000125459 58 0 0 52 12 18.75 SPTA1 0 genome.wustl.edu 37 1 158589972 158589972 + Silent SNP A A G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 1 158589972 158589972 A G SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known silent c.6405 p.S2135 0.821 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 237 1 0.420168 210 72 25.5319 SPTA1 0 genome.wustl.edu 37 1 158647617 158647617 + Missense_Mutation SNP T T C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 1 158647617 158647617 T C SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.820 p.T274A 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 120 0 0 77 51 39.8438 CCDC19 0 genome.wustl.edu 37 1 159846399 159846399 + Silent SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 1 159846399 159846399 G A SNP CCDC19 ENST00000368099 human ensembl 74_37 -1 known silent c.1299 p.H433 0.115 NULL NULL - no_errors CCDC19 HGNC ENSG00000213085 41 0 0 32 23 41.8182 FMO1 0 genome.wustl.edu 37 1 171249946 171249946 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 1 171249946 171249946 G A SNP FMO1 ENST00000354841 human ensembl 74_37 +1 known missense c.649 p.G217R 1.000 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase_1 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_1,prints_Flavin_mOase_2 - no_errors FMO1 HGNC ENSG00000010932 131 0 0 116 30 20.5479 KLHDC7A 0 genome.wustl.edu 37 1 18809393 18809393 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 1 18809393 18809393 G A SNP KLHDC7A ENST00000400664 human ensembl 74_37 +1 known missense c.1918 p.G640S 0.998 NULL pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC7A HGNC ENSG00000179023 24 0 0 12 5 29.4118 TAS1R2 0 genome.wustl.edu 37 1 19181261 19181261 + Missense_Mutation SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 1 19181261 19181261 C T SNP TAS1R2 ENST00000375371 human ensembl 74_37 -1 novel missense c.703 p.A235T 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R2 HGNC ENSG00000179002 24 0 0 12 5 29.4118 RD3 0 genome.wustl.edu 37 1 211654555 211654555 + Missense_Mutation SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 1 211654555 211654555 C T SNP RD3 ENST00000367002 human ensembl 74_37 -1 known missense c.203 p.R68Q 0.456 NULL NULL - no_errors RD3 HGNC ENSG00000198570 98 0 0 49 44 47.3118 HLX 0 genome.wustl.edu 37 1 221057864 221057864 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 1 221057864 221057864 G A SNP HLX ENST00000366903 human ensembl 74_37 +1 known missense c.1285 p.G429S 0.001 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors HLX HGNC ENSG00000136630 20 0 0 16 5 23.8095 HEATR1 0 genome.wustl.edu 37 1 236730096 236730096 + Silent SNP C C G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 1 236730096 236730096 C G SNP HEATR1 ENST00000366582 human ensembl 74_37 -1 known silent c.4158 p.A1386 0.067 superfamily_ARM-type_fold pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC ENSG00000119285 117 0 0 92 19 17.1171 RYR2 0 genome.wustl.edu 37 1 237753203 237753203 + Missense_Mutation SNP G G C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 1 237753203 237753203 G C SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.3703 p.E1235Q 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 87 0 0 61 29 32.2222 RYR2 0 genome.wustl.edu 37 1 237777344 237777344 + Missense_Mutation SNP T T C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 1 237777344 237777344 T C SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.4910 p.V1637A 0.981 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 77 0 0 52 20 27.7778 RUNX3 0 genome.wustl.edu 37 1 25229132 25229132 + Silent SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 1 25229132 25229132 G A SNP RUNX3 ENST00000338888 human ensembl 74_37 -1 known silent c.771 p.S257 0.207 pirsf_TF_Runt-rel_RUNX pfam_Runt_dom,pfam_RunxI_C_dom,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_Runt_dom,prints_AML1_Runt - no_errors RUNX3 HGNC ENSG00000020633 101 0 0 87 38 30.4 GNL2 0 genome.wustl.edu 37 1 38058379 38058379 + Missense_Mutation SNP G G C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 1 38058379 38058379 G C SNP GNL2 ENST00000373062 human ensembl 74_37 -1 known missense c.178 p.L60V 0.997 pfam_NOG2_N_dom pfam_NOG2_N_dom,pfam_GTP_binding_domain,superfamily_P-loop_NTPase,prints_GTP_binding_domain - no_errors GNL2 HGNC ENSG00000134697 235 0 0 262 22 7.74648 PTCH2 0 genome.wustl.edu 37 1 45292345 45292345 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 1 45292345 45292345 G A SNP PTCH2 ENST00000372192 human ensembl 74_37 -1 known missense c.2791 p.R931W 1.000 pfam_Patched,tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH2 HGNC ENSG00000117425 24 0 0 19 7 26.9231 ST6GALNAC3 0 genome.wustl.edu 37 1 76878075 76878075 + Missense_Mutation SNP T T A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 1 76878075 76878075 T A SNP ST6GALNAC3 ENST00000328299 human ensembl 74_37 +1 known missense c.596 p.V199D 0.741 pfam_Glyco_trans_29 pfam_Glyco_trans_29 - no_errors ST6GALNAC3 HGNC ENSG00000184005 117 0 0 95 42 30.6569 ODF2L 0 genome.wustl.edu 37 1 86826217 86826217 + Silent SNP A A G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 1 86826217 86826217 A G SNP ODF2L ENST00000317336 human ensembl 74_37 -1 known silent c.1146 p.T382 0.629 NULL NULL - no_errors ODF2L HGNC ENSG00000122417 131 0 0 110 38 25.6757 HPS6 0 genome.wustl.edu 37 10 103826688 103826688 + Missense_Mutation SNP C C A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 10 103826688 103826688 C A SNP HPS6 ENST00000299238 human ensembl 74_37 +1 known missense c.1457 p.A486E 0.992 pirsf_BLOC-2_complex_Hps6_subunit pirsf_BLOC-2_complex_Hps6_subunit - no_errors HPS6 HGNC ENSG00000166189 80 0 0 48 31 39.2405 DHX32 0 genome.wustl.edu 37 10 127542584 127542584 + Missense_Mutation SNP C C A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 10 127542584 127542584 C A SNP DHX32 ENST00000284690 human ensembl 74_37 -1 known missense c.1038 p.L346F 0.997 superfamily_P-loop_NTPase pfam_Helicase-assoc_dom,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd - no_errors DHX32 HGNC ENSG00000089876 247 0 0 148 63 29.8578 DPYSL4 0 genome.wustl.edu 37 10 134006169 134006169 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 10 134006169 134006169 G A SNP DPYSL4 ENST00000338492 human ensembl 74_37 +1 known missense c.136 p.G46R 1.000 superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL4 HGNC ENSG00000151640 102 0 0 84 15 15.1515 APBB1IP 0 genome.wustl.edu 37 10 26800822 26800822 + Silent SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 10 26800822 26800822 G A SNP APBB1IP ENST00000376236 human ensembl 74_37 +1 known silent c.678 p.P226 0.692 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc - no_errors APBB1IP HGNC ENSG00000077420 125 0 0 114 35 23.4899 NEUROG3 0 genome.wustl.edu 37 10 71332375 71332375 + Missense_Mutation SNP G G T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 10 71332375 71332375 G T SNP NEUROG3 ENST00000242462 human ensembl 74_37 -1 known missense c.425 p.A142E 0.992 superfamily_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors NEUROG3 HGNC ENSG00000122859 32 0 0 26 6 18.75 DUPD1 0 genome.wustl.edu 37 10 76803766 76803766 + Silent SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 10 76803766 76803766 C T SNP DUPD1 ENST00000338487 human ensembl 74_37 -1 known silent c.210 p.A70 0.870 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP_famA,prints_Atypical_DUSP - no_errors DUPD1 HGNC ENSG00000188716 59 0 0 30 11 26.8293 NRG3 0 genome.wustl.edu 37 10 84711235 84711235 + Missense_Mutation SNP A A C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 10 84711235 84711235 A C SNP NRG3 ENST00000404547 human ensembl 74_37 +1 known missense c.1065 p.E355D 0.970 NULL pfscan_EG-like_dom - no_errors NRG3 HGNC ENSG00000185737 201 0 0 178 49 21.5859 C10orf129 0 genome.wustl.edu 37 10 96972614 96972614 + Splice_Site SNP G G C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 10 96972614 96972614 G C SNP C10orf129 ENST00000341686 human ensembl 74_37 +1 known splice_site c.913-1 e6-1 0.999 - - - no_errors C10orf129 HGNC ENSG00000173124 143 0 0 110 26 19.1176 TRPC6 0 genome.wustl.edu 37 11 101362341 101362341 + Silent SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 11 101362341 101362341 G A SNP TRPC6 ENST00000344327 human ensembl 74_37 -1 known silent c.1074 p.H358 0.000 tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC6 HGNC ENSG00000137672 222 0 0 165 50 23.2558 SPON1 0 genome.wustl.edu 37 11 14276115 14276115 + RNA SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 11 14276115 14276115 G A SNP SPON1 ENST00000310358 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SPON1 HGNC ENSG00000152268 73 0 0 51 20 28.169 NUP98 0 genome.wustl.edu 37 11 3697502 3697502 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 11 3697502 3697502 G A SNP NUP98 ENST00000324932 human ensembl 74_37 -1 known missense c.5290 p.R1764C 0.999 NULL pfam_Nup96,pfam_Peptidase_S59,superfamily_Peptidase_S59 - no_errors NUP98 HGNC ENSG00000110713 175 0 0 144 15 9.43396 OR4C3 0 genome.wustl.edu 37 11 48347069 48347069 + Missense_Mutation SNP T T C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 11 48347069 48347069 T C SNP OR4C3 ENST00000319856 human ensembl 74_37 +1 known missense c.577 p.F193L 0.993 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C3 HGNC ENSG00000176547 227 1 0.438596 208 19 8.37004 OR4A47 0 genome.wustl.edu 37 11 48510526 48510526 + Missense_Mutation SNP T T C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 11 48510526 48510526 T C SNP OR4A47 ENST00000446524 human ensembl 74_37 +1 known missense c.182 p.L61P 1.000 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 OR4A47 HGNC ENSG00000237388 142 0 0 86 33 27.7311 OR4A5 0 genome.wustl.edu 37 11 51411522 51411522 + Silent SNP T T G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 11 51411522 51411522 T G SNP OR4A5 ENST00000319760 human ensembl 74_37 -1 known silent c.874 p.R292 0.403 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A5 HGNC ENSG00000221840 71 0 0 45 8 15.0943 OR4C16 0 genome.wustl.edu 37 11 55340006 55340006 + Missense_Mutation SNP A A C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 11 55340006 55340006 A C SNP OR4C16 ENST00000314634 human ensembl 74_37 +1 known missense c.403 p.S135R 0.130 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C16 HGNC ENSG00000181935 292 0 0 203 70 25.641 OR4C6 0 genome.wustl.edu 37 11 55432670 55432670 + Missense_Mutation SNP T T A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 11 55432670 55432670 T A SNP OR4C6 ENST00000314259 human ensembl 74_37 +1 known missense c.28 p.F10I 1.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C6 HGNC ENSG00000181903 257 0 0 183 67 26.8 OR8H3 0 genome.wustl.edu 37 11 55890015 55890015 + Missense_Mutation SNP T T G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 11 55890015 55890015 T G SNP OR8H3 ENST00000313472 human ensembl 74_37 +1 known missense c.167 p.L56R 0.888 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8H3 HGNC ENSG00000181761 718 0 0 523 133 20.2744 OR5T2 0 genome.wustl.edu 37 11 56000460 56000460 + Missense_Mutation SNP A A C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 11 56000460 56000460 A C SNP OR5T2 ENST00000313264 human ensembl 74_37 -1 known missense c.202 p.F68V 0.001 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5T2 HGNC ENSG00000181718 135 0 0 109 30 21.5827 OR5T1 0 genome.wustl.edu 37 11 56044028 56044028 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 11 56044028 56044028 G A SNP OR5T1 ENST00000313033 human ensembl 74_37 +1 known missense c.914 p.R305Q 0.465 prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5T1 HGNC ENSG00000181698 224 0 0 173 52 23.1111 OR5R1 0 genome.wustl.edu 37 11 56184767 56184767 + Missense_Mutation SNP T T C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 11 56184767 56184767 T C SNP OR5R1 ENST00000312253 human ensembl 74_37 -1 known missense c.942 p.I314M 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5R1 HGNC ENSG00000174942 106 0 0 68 33 32.6733 CTSW 0 genome.wustl.edu 37 11 65650818 65650818 + Missense_Mutation SNP C C G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 11 65650818 65650818 C G SNP CTSW ENST00000307886 human ensembl 74_37 +1 known missense c.943 p.Q315E 0.000 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSW HGNC ENSG00000172543 163 0 0 150 14 8.53659 UNC93B1 0 genome.wustl.edu 37 11 67766770 67766770 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 11 67766770 67766770 G A SNP UNC93B1 ENST00000227471 human ensembl 74_37 -1 known missense c.560 p.A187V 1.000 pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt - no_errors UNC93B1 HGNC ENSG00000110057 24 0 0 12 7 36.8421 FOLR1 0 genome.wustl.edu 37 11 71907066 71907066 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 11 71907066 71907066 G A SNP FOLR1 ENST00000312293 human ensembl 74_37 +1 known missense c.619 p.G207S 0.999 pfam_Folate_rcpt-like pfam_Folate_rcpt-like - no_errors FOLR1 HGNC ENSG00000110195 127 0 0 96 33 25.5814 FAT3 0 genome.wustl.edu 37 11 92087018 92087018 + Silent SNP A A G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 11 92087018 92087018 A G SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known silent c.1740 p.K580 0.997 superfamily_Cadherin-like 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 92 0 0 77 21 21.4286 HEPHL1 0 genome.wustl.edu 37 11 93844120 93844120 + Nonsense_Mutation SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 11 93844120 93844120 C T SNP HEPHL1 ENST00000315765 human ensembl 74_37 +1 known nonsense c.3097 p.Q1033* 1.000 pfam_Cu-oxidase_2,superfamily_Cupredoxin pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPHL1 HGNC ENSG00000181333 55 0 0 38 11 22.449 STAB2 0 genome.wustl.edu 37 12 104157271 104157271 + Nonsense_Mutation SNP C C A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 12 104157271 104157271 C A SNP STAB2 ENST00000388887 human ensembl 74_37 +1 known nonsense c.7490 p.S2497* 0.978 NULL pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC ENSG00000136011 541 0 0 381 167 30.4745 KSR2 0 genome.wustl.edu 37 12 118198882 118198882 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 12 118198882 118198882 G A SNP KSR2 ENST00000339824 human ensembl 74_37 -1 known missense c.920 p.A307V 0.963 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors KSR2 HGNC ENSG00000171435 143 0 0 149 68 31.3364 CLIP1 0 genome.wustl.edu 37 12 122763599 122763599 + Silent SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 12 122763599 122763599 G A SNP CLIP1 ENST00000540338 human ensembl 74_37 -1 known silent c.3741 p.A1247 0.036 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Znf_CCHC,superfamily_Prefoldin,pfscan_CAP-Gly_domain - no_errors CLIP1 HGNC ENSG00000130779 299 0 0 245 82 25.0765 WBP11 0 genome.wustl.edu 37 12 14949824 14949824 + Missense_Mutation SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 12 14949824 14949824 C T SNP WBP11 ENST00000261167 human ensembl 74_37 -1 known missense c.304 p.D102N 1.000 NULL pfam_WW_dom-bd_prot_11 - no_errors WBP11 HGNC ENSG00000084463 163 0 0 151 73 32.5893 PLEKHA5 0 genome.wustl.edu 37 12 19427792 19427792 + Silent SNP T T C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 12 19427792 19427792 T C SNP PLEKHA5 ENST00000317589 human ensembl 74_37 +1 known silent c.1170 p.N390 0.003 NULL pfam_Pleckstrin_homology,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom - no_errors PLEKHA5 HGNC ENSG00000052126 106 0 0 75 40 34.7826 PDE3A 0 genome.wustl.edu 37 12 20833192 20833192 + Missense_Mutation SNP A A C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 12 20833192 20833192 A C SNP PDE3A ENST00000359062 human ensembl 74_37 +1 known missense c.3413 p.K1138T 0.054 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3A HGNC ENSG00000172572 69 0 0 67 19 22.093 GYS2 0 genome.wustl.edu 37 12 21728967 21728967 + Nonsense_Mutation SNP C C A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 12 21728967 21728967 C A SNP GYS2 ENST00000261195 human ensembl 74_37 -1 known nonsense c.328 p.E110* 1.000 pfam_Glycogen_synth pfam_Glycogen_synth,pfam_Glyco_trans_1 - no_errors GYS2 HGNC ENSG00000111713 172 0 0 119 39 24.6835 TULP3 0 genome.wustl.edu 37 12 3047401 3047401 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 12 3047401 3047401 G A SNP TULP3 ENST00000448120 human ensembl 74_37 +1 known missense c.1145 p.R382Q 1.000 pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C,prints_Tubby_N - no_errors TULP3 HGNC ENSG00000078246 127 0 0 90 47 34.3066 PRMT8 0 genome.wustl.edu 37 12 3649831 3649831 + Silent SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 12 3649831 3649831 C T SNP PRMT8 ENST00000382622 human ensembl 74_37 +1 known silent c.135 p.C45 0.056 NULL pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors PRMT8 HGNC ENSG00000111218 292 0 0 351 20 5.39084 PRPH 0 genome.wustl.edu 37 12 49689232 49689232 + Silent SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 12 49689232 49689232 C T SNP PRPH ENST00000257860 human ensembl 74_37 +1 known silent c.249 p.A83 1.000 pfam_Intermed_filament_DNA-bd pfam_IF,pfam_Intermed_filament_DNA-bd,prints_Keratin_I - no_errors PRPH HGNC ENSG00000135406 8 0 0 12 4 25 KRT75 0 genome.wustl.edu 37 12 52818448 52818448 + Silent SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 12 52818448 52818448 G A SNP KRT75 ENST00000252245 human ensembl 74_37 -1 known silent c.1509 p.S503 1.000 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT75 HGNC ENSG00000170454 98 0 0 93 42 31.1111 EIF4B 0 genome.wustl.edu 37 12 53421886 53421886 + Missense_Mutation SNP A A G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 12 53421886 53421886 A G SNP EIF4B ENST00000262056 human ensembl 74_37 +1 known missense c.893 p.Y298C 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors EIF4B HGNC ENSG00000063046 118 0 0 88 45 33.8346 NPFF 0 genome.wustl.edu 37 12 53900648 53900648 + Missense_Mutation SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 12 53900648 53900648 C T SNP NPFF ENST00000609999 human ensembl 74_37 -1 known missense c.263 p.R88K 0.012 pirsf_FMRFamid-related_peptide,prints_FMRFamid-related_peptide pirsf_FMRFamid-related_peptide,prints_FMRFamid-related_peptide - no_errors NPFF HGNC ENSG00000139574 227 0 0 221 85 27.7778 OR6C70 0 genome.wustl.edu 37 12 55862995 55862995 + Missense_Mutation SNP A A T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 12 55862995 55862995 A T SNP OR6C70 ENST00000327335 human ensembl 74_37 -1 known missense c.928 p.S310T 0.059 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C70 HGNC ENSG00000184954 126 0 0 134 10 6.94444 RDH5 0 genome.wustl.edu 37 12 56118266 56118266 + Silent SNP A A C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 12 56118266 56118266 A C SNP RDH5 ENST00000257895 human ensembl 74_37 +1 known silent c.894 p.P298 0.991 NULL pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors RDH5 HGNC ENSG00000135437 142 1 0.699301 120 31 20.5298 RAB5B 0 genome.wustl.edu 37 12 56383868 56383868 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 12 56383868 56383868 G A SNP RAB5B ENST00000360299 human ensembl 74_37 +1 known missense c.301 p.D101N 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB5B HGNC ENSG00000111540 57 0 0 34 14 29.1667 NOP2 0 genome.wustl.edu 37 12 6670217 6670217 + Silent SNP C C G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 12 6670217 6670217 C G SNP NOP2 ENST00000322166 human ensembl 74_37 -1 known silent c.1227 p.T409 0.073 pfam_Fmu/NOL1/Nop2p,pfam_rRNA_MeTrfase_FtsJ_dom,tigrfam_Nop2p pfam_Fmu/NOL1/Nop2p,pfam_P120R,pfam_rRNA_MeTrfase_FtsJ_dom,prints_RCMT,prints_RCMT_NOP2,tigrfam_Nop2p - no_errors NOP2 HGNC ENSG00000111641 64 0 0 48 17 26.1538 NAV3 0 genome.wustl.edu 37 12 78515734 78515734 + Missense_Mutation SNP A A T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 12 78515734 78515734 A T SNP NAV3 ENST00000397909 human ensembl 74_37 +1 known missense c.3764 p.K1255M 1.000 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 107 0 0 88 38 30.1587 PLEKHG7 0 genome.wustl.edu 37 12 93148040 93148040 + Missense_Mutation SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 12 93148040 93148040 C T SNP PLEKHG7 ENST00000344636 human ensembl 74_37 +1 known missense c.490 p.R164W 0.207 superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG7 HGNC ENSG00000187510 71 0 0 51 15 22.7273 FGF14 0 genome.wustl.edu 37 13 102527574 102527574 + Missense_Mutation SNP C C A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 13 102527574 102527574 C A SNP FGF14 ENST00000376131 human ensembl 74_37 -1 known missense c.281 p.G94V 1.000 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF14 HGNC ENSG00000102466 98 0 0 45 53 54.0816 F10 0 genome.wustl.edu 37 13 113803380 113803380 + Missense_Mutation SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 13 113803380 113803380 C T SNP F10 ENST00000375559 human ensembl 74_37 +1 known missense c.1016 p.A339V 0.042 pirsf_Pept_S1A_FX,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_FX,pfam_Peptidase_S1,pfam_GLA_domain,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Peptidase_S1,prints_Peptidase_S1A,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1 - no_errors F10 HGNC ENSG00000126218 103 0 0 50 75 60 ZDHHC20 0 genome.wustl.edu 37 13 22033233 22033233 + Silent SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 13 22033233 22033233 G A SNP ZDHHC20 ENST00000400590 human ensembl 74_37 -1 known silent c.78 p.V26 0.311 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC20 HGNC ENSG00000180776 19 0 0 8 8 50 AMER2 0 genome.wustl.edu 37 13 25744011 25744011 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 13 25744011 25744011 G A SNP AMER2 ENST00000515384 human ensembl 74_37 -1 known missense c.1747 p.R583W 0.999 pfam_Uncharacterised_FAM123 pfam_Uncharacterised_FAM123 - no_errors AMER2 HGNC ENSG00000165566 160 0 0 64 104 61.9048 NBEA 0 genome.wustl.edu 37 13 35733293 35733293 + Missense_Mutation SNP A A C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 13 35733293 35733293 A C SNP NBEA ENST00000310336 human ensembl 74_37 +1 known missense c.2985 p.K995N 0.965 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 127 0 0 59 91 60.6667 MAB21L1 0 genome.wustl.edu 37 13 36049942 36049942 + Missense_Mutation SNP G G C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 13 36049942 36049942 G C SNP MAB21L1 ENST00000379919 human ensembl 74_37 -1 known missense c.334 p.L112V 1.000 pfam_Mab-21_dom pfam_Mab-21_dom - no_errors MAB21L1 HGNC ENSG00000180660 75 0 0 42 18 30 CCNA1 0 genome.wustl.edu 37 13 37014128 37014128 + Silent SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 13 37014128 37014128 G A SNP CCNA1 ENST00000255465 human ensembl 74_37 +1 known silent c.906 p.E302 1.000 pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCNA1 HGNC ENSG00000133101 103 0 0 42 60 58.8235 SLITRK6 0 genome.wustl.edu 37 13 86370524 86370524 + Missense_Mutation SNP T T G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 13 86370524 86370524 T G SNP SLITRK6 ENST00000400286 human ensembl 74_37 -1 known missense c.120 p.K40N 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK6 HGNC ENSG00000184564 193 0 0 172 64 27.1186 EML1 0 genome.wustl.edu 37 14 100381009 100381009 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 14 100381009 100381009 G A SNP EML1 ENST00000334192 human ensembl 74_37 +1 known missense c.1784 p.R595H 1.000 superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML1 HGNC ENSG00000066629 59 0 0 38 13 25.4902 ADSSL1 0 genome.wustl.edu 37 14 105211180 105211180 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 14 105211180 105211180 G A SNP ADSSL1 ENST00000332972 human ensembl 74_37 +1 known missense c.1234 p.V412I 1.000 pfam_Adenylosuccinate_synthetase,superfamily_P-loop_NTPase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase pfam_Adenylosuccinate_synthetase,superfamily_P-loop_NTPase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase - no_errors ADSSL1 HGNC ENSG00000185100 85 0 0 64 17 20.9877 AHNAK2 0 genome.wustl.edu 37 14 105408763 105408763 + Missense_Mutation SNP T T C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 14 105408763 105408763 T C SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.13025 p.K4342R 0.004 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 326 0 0 240 109 31.2321 OR4M1 0 genome.wustl.edu 37 14 20249095 20249095 + Missense_Mutation SNP T T C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 14 20249095 20249095 T C SNP OR4M1 ENST00000315957 human ensembl 74_37 +1 known missense c.614 p.L205P 0.988 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4M1 HGNC ENSG00000176299 650 0 0 486 117 19.403 SALL2 0 genome.wustl.edu 37 14 21992247 21992247 + Missense_Mutation SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 14 21992247 21992247 C T SNP SALL2 ENST00000327430 human ensembl 74_37 -1 known missense c.1615 p.V539M 0.003 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL2 HGNC ENSG00000165821 121 0 0 88 30 25.4237 MYH7 0 genome.wustl.edu 37 14 23887536 23887536 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 14 23887536 23887536 G A SNP MYH7 ENST00000355349 human ensembl 74_37 -1 known missense c.4052 p.T1351M 0.989 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 74 0 0 77 16 17.2043 MYH7 0 genome.wustl.edu 37 14 23899793 23899793 + Silent SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 14 23899793 23899793 G A SNP MYH7 ENST00000355349 human ensembl 74_37 -1 known silent c.975 p.D325 0.867 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 46 0 0 29 15 34.0909 SYT16 0 genome.wustl.edu 37 14 62550996 62550996 + Missense_Mutation SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 14 62550996 62550996 C T SNP SYT16 ENST00000430451 human ensembl 74_37 +1 novel missense c.1517 p.A506V 0.999 superfamily_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors SYT16 HGNC ENSG00000139973 148 1 0.671141 86 27 23.8938 FNTB 0 genome.wustl.edu 37 14 65507516 65507516 + Missense_Mutation SNP A A G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 14 65507516 65507516 A G SNP FNTB ENST00000447296 human ensembl 74_37 +1 known missense c.803 p.N268S 1.000 pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_Prenyltrans,pfam_Transcrpt_activator_Churchill,superfamily_Terpenoid_cyclase/PrenylTrfase - no_errors FNTB HGNC ENSG00000257365 159 0 0 133 35 20.8333 ACTN1 0 genome.wustl.edu 37 14 69347567 69347567 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 14 69347567 69347567 G A SNP ACTN1 ENST00000394419 human ensembl 74_37 -1 known missense c.2093 p.A698V 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors ACTN1 HGNC ENSG00000072110 121 0 0 104 36 25.7143 C14orf166B 0 genome.wustl.edu 37 14 77297656 77297656 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 14 77297656 77297656 G A SNP C14orf166B ENST00000393774 human ensembl 74_37 +1 known missense c.328 p.V110M 0.140 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors C14orf166B HGNC ENSG00000100565 149 0 0 95 33 25.7812 FLRT2 0 genome.wustl.edu 37 14 86089096 86089096 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 14 86089096 86089096 G A SNP FLRT2 ENST00000330753 human ensembl 74_37 +1 known missense c.1238 p.G413D 1.000 superfamily_Fibronectin_type3 pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT2 HGNC ENSG00000185070 124 0 0 85 31 26.7241 MKRN3 0 genome.wustl.edu 37 15 23811376 23811376 + Silent SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 15 23811376 23811376 C T SNP MKRN3 ENST00000314520 human ensembl 74_37 +1 known silent c.447 p.I149 0.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors MKRN3 HGNC ENSG00000179455 79 0 0 41 17 29.3103 GABRB3 0 genome.wustl.edu 37 15 27184420 27184420 + Missense_Mutation SNP A A T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 15 27184420 27184420 A T SNP GABRB3 ENST00000541819 human ensembl 74_37 -1 putative missense c.164 p.F55Y 0.998 NULL pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRB3 HGNC ENSG00000166206 131 0 0 96 28 22.5806 NEDD4 0 genome.wustl.edu 37 15 56208746 56208746 + Missense_Mutation SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 15 56208746 56208746 C T SNP NEDD4 ENST00000508342 human ensembl 74_37 -1 known missense c.284 p.R95K 1.000 NULL pfam_HECT,pfam_WW_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_WW_dom - no_errors NEDD4 HGNC ENSG00000069869 267 0 0 257 14 5.16605 MEGF11 0 genome.wustl.edu 37 15 66209284 66209284 + Silent SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 15 66209284 66209284 G A SNP MEGF11 ENST00000409699 human ensembl 74_37 -1 known silent c.2097 p.P699 0.000 pfam_EGF_laminin,smart_EGF_laminin pfam_EGF_laminin,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_EMI_domain - no_errors MEGF11 HGNC ENSG00000157890 10 0 0 2 2 50 ARNT2 0 genome.wustl.edu 37 15 80743252 80743252 + Silent SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 15 80743252 80743252 G A SNP ARNT2 ENST00000303329 human ensembl 74_37 +1 known silent c.63 p.T21 0.002 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom,prints_Nuc_translocat,tigrfam_PAS - no_errors ARNT2 HGNC ENSG00000172379 216 0 0 175 81 31.6406 MYH11 0 genome.wustl.edu 37 16 15797934 15797934 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 16 15797934 15797934 G A SNP MYH11 ENST00000396324 human ensembl 74_37 -1 known missense c.5854 p.R1952C 0.945 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH11 HGNC ENSG00000133392 262 1 0.380228 216 68 23.9437 SCNN1B 0 genome.wustl.edu 37 16 23360100 23360100 + Silent SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 16 23360100 23360100 C T SNP SCNN1B ENST00000307331 human ensembl 74_37 +1 known silent c.315 p.A105 0.002 pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1B HGNC ENSG00000168447 63 0 0 34 13 27.6596 ATP2A1 0 genome.wustl.edu 37 16 28890083 28890083 + Missense_Mutation SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 16 28890083 28890083 C T SNP ATP2A1 ENST00000357084 human ensembl 74_37 +1 known missense c.91 p.R31W 1.000 pfam_ATPase_P-typ_cation-transptr_N,smart_ATPase_P-typ_cation-transptr_N pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2A1 HGNC ENSG00000196296 54 0 0 34 12 26.087 CBLN1 0 genome.wustl.edu 37 16 49313471 49313471 + Silent SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 16 49313471 49313471 G A SNP CBLN1 ENST00000219197 human ensembl 74_37 -1 known silent c.426 p.F142 0.997 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors CBLN1 HGNC ENSG00000102924 81 0 0 56 15 21.1268 CDH8 0 genome.wustl.edu 37 16 61851476 61851476 + Missense_Mutation SNP G G T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 16 61851476 61851476 G T SNP CDH8 ENST00000577390 human ensembl 74_37 -1 known missense c.1184 p.T395N 0.780 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH8 HGNC ENSG00000150394 138 0 0 74 37 33.3333 CDH11 0 genome.wustl.edu 37 16 64981966 64981966 + Missense_Mutation SNP T T G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 16 64981966 64981966 T G SNP CDH11 ENST00000268603 human ensembl 74_37 -1 known missense c.1931 p.K644T 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC ENSG00000140937 181 0 0 112 60 34.8837 HYDIN 0 genome.wustl.edu 37 16 70986528 70986528 + Silent SNP T T G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 16 70986528 70986528 T G SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative silent c.6327 p.A2109 0.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 40 0 0 34 11 24.4444 NECAB2 0 genome.wustl.edu 37 16 84024157 84024157 + Missense_Mutation SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 16 84024157 84024157 C T SNP NECAB2 ENST00000305202 human ensembl 74_37 +1 known missense c.518 p.T173M 1.000 NULL pfam_Antibiotic_mOase,superfamily_Dimeric_a/b-barrel,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NECAB2 HGNC ENSG00000103154 109 0 0 66 31 31.9588 HSDL1 0 genome.wustl.edu 37 16 84163759 84163759 + Silent SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 16 84163759 84163759 G A SNP HSDL1 ENST00000219439 human ensembl 74_37 -1 known silent c.498 p.S166 0.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors HSDL1 HGNC ENSG00000103160 274 0 0 186 61 24.6964 NCOR1 0 genome.wustl.edu 37 17 16042436 16042436 + Missense_Mutation SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 17 16042436 16042436 C T SNP NCOR1 ENST00000268712 human ensembl 74_37 -1 known missense c.1238 p.R413K 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 103 1 0.961538 67 36 34.9515 TOP3A 0 genome.wustl.edu 37 17 18208465 18208465 + Missense_Mutation SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 17 18208465 18208465 C T SNP TOP3A ENST00000321105 human ensembl 74_37 -1 known missense c.460 p.E154K 1.000 pfam_Toprim_domain,superfamily_Topo_IA_core_domain,smart_Toprim_domain,prints_Topo_IA pfam_Topo_IA_cen,pfam_Znf_GRF,pfam_Toprim_domain,pfam_Topo_IA_Znf,superfamily_Topo_IA_core_domain,superfamily_Znf_CCHC,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_DNA-bd,prints_Topo_IA - no_errors TOP3A HGNC ENSG00000177302 95 0 0 70 15 17.6471 C17orf97 0 genome.wustl.edu 37 17 263226 263226 + Missense_Mutation SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 17 263226 263226 C T SNP C17orf97 ENST00000360127 human ensembl 74_37 +1 known missense c.592 p.R198W 0.080 NULL NULL - no_errors C17orf97 HGNC ENSG00000187624 56 0 0 31 33 51.5625 NUFIP2 0 genome.wustl.edu 37 17 27613685 27613685 + Missense_Mutation SNP G G C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 17 27613685 27613685 G C SNP NUFIP2 ENST00000225388 human ensembl 74_37 -1 known missense c.1327 p.L443V 0.769 NULL NULL - no_errors NUFIP2 HGNC ENSG00000108256 203 0 0 148 28 15.9091 OR3A2 0 genome.wustl.edu 37 17 3181605 3181605 + Missense_Mutation SNP A A T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 17 3181605 3181605 A T SNP OR3A2 ENST00000408891 human ensembl 74_37 -1 known missense c.625 p.F209I 0.663 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 OR3A2 HGNC ENSG00000221882 145 0 0 88 35 28.4553 G6PC 0 genome.wustl.edu 37 17 41063341 41063341 + Silent SNP C C A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 17 41063341 41063341 C A SNP G6PC ENST00000253801 human ensembl 74_37 +1 known silent c.972 p.V324 0.092 pirsf_Glucose-6-phosphatase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase,pirsf_Glucose-6-phosphatase - no_errors G6PC HGNC ENSG00000131482 234 0 0 169 75 30.7377 CACNG5 0 genome.wustl.edu 37 17 64880742 64880742 + Silent SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 17 64880742 64880742 G A SNP CACNG5 ENST00000169565 human ensembl 74_37 +1 known silent c.534 p.S178 0.138 pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g5su - no_errors CACNG5 HGNC ENSG00000075429 175 0 0 124 50 28.7356 CASKIN2 0 genome.wustl.edu 37 17 73500726 73500726 + Missense_Mutation SNP C C A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 17 73500726 73500726 C A SNP CASKIN2 ENST00000321617 human ensembl 74_37 -1 known missense c.1241 p.R414L 1.000 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt - no_errors CASKIN2 HGNC ENSG00000177303 23 0 0 17 5 22.7273 TRIM65 0 genome.wustl.edu 37 17 73886888 73886888 + Missense_Mutation SNP A A G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 17 73886888 73886888 A G SNP TRIM65 ENST00000269383 human ensembl 74_37 -1 known missense c.1526 p.L509P 0.000 superfamily_ConA-like_lec_gl_sf pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM65 HGNC ENSG00000141569 10 0 0 5 5 50 TP53 0 genome.wustl.edu 37 17 7577127 7577127 + Missense_Mutation SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 17 7577127 7577127 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.811 p.E271K 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 56 0 0 14 18 56.25 BAIAP2 0 genome.wustl.edu 37 17 79077493 79077493 + Silent SNP G G T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 17 79077493 79077493 G T SNP BAIAP2 ENST00000321300 human ensembl 74_37 +1 known silent c.834 p.P278 0.001 NULL pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors BAIAP2 HGNC ENSG00000175866 40 0 0 27 9 25 PCYT2 0 genome.wustl.edu 37 17 79864773 79864773 + Missense_Mutation SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 17 79864773 79864773 C T SNP PCYT2 ENST00000538721 human ensembl 74_37 -1 known missense c.593 p.C198Y 0.652 NULL pfam_Cyt_trans-like,tigrfam_Cyt_trans-like - no_errors PCYT2 HGNC ENSG00000185813 61 0 0 59 11 15.7143 RIT2 0 genome.wustl.edu 37 18 40323674 40323674 + Missense_Mutation SNP T T G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 18 40323674 40323674 T G SNP RIT2 ENST00000326695 human ensembl 74_37 -1 known missense c.438 p.E146D 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RIT2 HGNC ENSG00000152214 92 0 0 39 43 52.439 NOTCH3 0 genome.wustl.edu 37 19 15289981 15289981 + Silent SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 19 15289981 15289981 G A SNP NOTCH3 ENST00000263388 human ensembl 74_37 -1 known silent c.3573 p.C1191 1.000 pirsf_Notch,pfam_EG-like_dom,pfam_EGF_extracell,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 45 0 0 59 11 15.7143 SUGP1 0 genome.wustl.edu 37 19 19413155 19413155 + Missense_Mutation SNP T T C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 19 19413155 19413155 T C SNP SUGP1 ENST00000247001 human ensembl 74_37 -1 known missense c.806 p.K269R 1.000 pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp pfam_Surp,pfam_G_patch_dom,superfamily_Surp,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors SUGP1 HGNC ENSG00000105705 179 0 0 150 359 70.5305 ZNF493 0 genome.wustl.edu 37 19 21606405 21606405 + Missense_Mutation SNP A A G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 19 21606405 21606405 A G SNP ZNF493 ENST00000355504 human ensembl 74_37 +1 known missense c.560 p.H187R 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF493 HGNC ENSG00000196268 140 0 0 102 270 72.5806 ZNF43 0 genome.wustl.edu 37 19 21992435 21992435 + Missense_Mutation SNP T T C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 19 21992435 21992435 T C SNP ZNF43 ENST00000354959 human ensembl 74_37 -1 known missense c.404 p.N135S 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF43 HGNC ENSG00000198521 194 0 0 166 64 27.8261 ZNF681 0 genome.wustl.edu 37 19 23927705 23927705 + Missense_Mutation SNP T T G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 19 23927705 23927705 T G SNP ZNF681 ENST00000402377 human ensembl 74_37 -1 known missense c.647 p.H216P 0.941 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 ZNF681 HGNC ENSG00000196172 57 0 0 41 24 36.9231 ZNF536 0 genome.wustl.edu 37 19 31040340 31040340 + Missense_Mutation SNP A A G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 19 31040340 31040340 A G SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known missense c.3814 p.S1272G 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 92 0 0 71 25 26.0417 ZNF569 0 genome.wustl.edu 37 19 37904498 37904498 + Nonsense_Mutation SNP A A T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 19 37904498 37904498 A T SNP ZNF569 ENST00000316950 human ensembl 74_37 -1 known nonsense c.1062 p.Y354* 0.514 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 ZNF569 HGNC ENSG00000196437 233 0 0 201 86 29.9652 ZNF569 0 genome.wustl.edu 37 19 37904499 37904499 + Missense_Mutation SNP T T A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 19 37904499 37904499 T A SNP ZNF569 ENST00000316950 human ensembl 74_37 -1 known missense c.1061 p.Y354F 0.740 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 ZNF569 HGNC ENSG00000196437 233 1 0.42735 201 86 29.9652 RYR1 0 genome.wustl.edu 37 19 38945944 38945944 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 19 38945944 38945944 G A SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.1510 p.E504K 0.998 pfam_Ca-rel_channel pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 174 0 0 147 70 32.2581 PSG10P 0 genome.wustl.edu 37 19 43358304 43358304 + RNA SNP T T C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 19 43358304 43358304 T C SNP PSG10P ENST00000597171 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PSG10P HGNC ENSG00000248257 505 0 0 426 168 28.2828 ZNF329 0 genome.wustl.edu 37 19 58640356 58640356 + Missense_Mutation SNP T T G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 19 58640356 58640356 T G SNP ZNF329 ENST00000358067 human ensembl 74_37 -1 known missense c.515 p.K172T 0.911 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF329 HGNC ENSG00000181894 172 0 0 153 86 35.9833 OR2Z1 0 genome.wustl.edu 37 19 8841983 8841983 + Missense_Mutation SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 19 8841983 8841983 C T SNP OR2Z1 ENST00000324060 human ensembl 74_37 +1 known missense c.593 p.A198V 0.132 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2Z1 HGNC ENSG00000181733 205 0 0 80 59 42.446 FBXL12 0 genome.wustl.edu 37 19 9922149 9922149 + Missense_Mutation SNP T T C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 19 9922149 9922149 T C SNP FBXL12 ENST00000247977 human ensembl 74_37 -1 known missense c.404 p.E135G 1.000 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXL12 HGNC ENSG00000127452 132 0 0 108 37 25.5172 GTDC1 0 genome.wustl.edu 37 2 144728242 144728242 + Silent SNP T T A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 2 144728242 144728242 T A SNP GTDC1 ENST00000344850 human ensembl 74_37 -1 known silent c.963 p.G321 1.000 pfam_Glyco_trans_1 pfam_GlycosylTrfase_1_N,pfam_Glyco_trans_1 - no_errors GTDC1 HGNC ENSG00000121964 177 0 0 114 41 26.4516 ZEB2 0 genome.wustl.edu 37 2 145156551 145156551 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 2 145156551 145156551 G A SNP ZEB2 ENST00000303660 human ensembl 74_37 -1 known missense c.2203 p.P735S 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZEB2 HGNC ENSG00000169554 513 0 0 367 87 19.163 NEB 0 genome.wustl.edu 37 2 152397971 152397971 + Missense_Mutation SNP A A C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 2 152397971 152397971 A C SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.20672 p.L6891R 1.000 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 132 0 0 80 33 29.2035 XIRP2 0 genome.wustl.edu 37 2 167992437 167992437 + Missense_Mutation SNP A A C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 2 167992437 167992437 A C SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.427 p.S143R 1.000 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 129 0 0 104 24 18.75 NOSTRIN 0 genome.wustl.edu 37 2 169707670 169707670 + Missense_Mutation SNP T T C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 2 169707670 169707670 T C SNP NOSTRIN ENST00000444448 human ensembl 74_37 +1 known missense c.878 p.L293P 0.989 NULL pfam_SH3_domain,pfam_SH3_2,pfam_FCH_dom,superfamily_SH3_domain,superfamily_HR1_rho-bd,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors NOSTRIN HGNC ENSG00000163072 149 0 0 110 38 25.6757 FASTKD1 0 genome.wustl.edu 37 2 170386311 170386311 + RNA SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 2 170386311 170386311 G A SNP FASTKD1 ENST00000490590 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FASTKD1 HGNC ENSG00000138399 57 0 0 41 12 22.6415 ZNF804A 0 genome.wustl.edu 37 2 185803164 185803164 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 2 185803164 185803164 G A SNP ZNF804A ENST00000302277 human ensembl 74_37 +1 known missense c.3041 p.G1014D 0.525 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ENSG00000170396 230 0 0 140 52 27.0833 PLCL1 0 genome.wustl.edu 37 2 198949309 198949309 + Silent SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 2 198949309 198949309 C T SNP PLCL1 ENST00000428675 human ensembl 74_37 +1 known silent c.1068 p.I356 0.988 pfam_PLipase_C_EF-hand-like pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL1 HGNC ENSG00000115896 260 0 0 196 12 5.76923 PLCL1 0 genome.wustl.edu 37 2 198949329 198949329 + Missense_Mutation SNP C C G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 2 198949329 198949329 C G SNP PLCL1 ENST00000428675 human ensembl 74_37 +1 known missense c.1088 p.S363C 1.000 pfam_PLipase_C_EF-hand-like pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL1 HGNC ENSG00000115896 270 0 0 202 12 5.60748 MAP2 0 genome.wustl.edu 37 2 210557512 210557512 + Silent SNP T T G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 2 210557512 210557512 T G SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known silent c.618 p.T206 0.000 NULL pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 136 0 0 100 26 20.6349 ABCA12 0 genome.wustl.edu 37 2 215891609 215891609 + Missense_Mutation SNP C C A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 2 215891609 215891609 C A SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known missense c.1115 p.S372I 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 331 1 0.301205 224 79 26.0726 RHBDD1 0 genome.wustl.edu 37 2 227729651 227729651 + Missense_Mutation SNP T T C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 2 227729651 227729651 T C SNP RHBDD1 ENST00000341329 human ensembl 74_37 +1 known missense c.242 p.L81S 1.000 pfam_Peptidase_S54_rhomboid_dom pfam_Peptidase_S54_rhomboid_dom - no_errors RHBDD1 HGNC ENSG00000144468 287 0 0 205 62 23.221 SPHKAP 0 genome.wustl.edu 37 2 228882341 228882341 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 2 228882341 228882341 G A SNP SPHKAP ENST00000392056 human ensembl 74_37 -1 known missense c.3229 p.R1077W 1.000 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 113 0 0 84 17 16.8317 TRAPPC12 0 genome.wustl.edu 37 2 3391965 3391965 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 2 3391965 3391965 G A SNP TRAPPC12 ENST00000324266 human ensembl 74_37 +1 known missense c.571 p.A191T 0.001 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TRAPPC12 HGNC ENSG00000171853 24 0 0 10 6 37.5 HNRNPLL 0 genome.wustl.edu 37 2 38804623 38804623 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 2 38804623 38804623 G A SNP HNRNPLL ENST00000449105 human ensembl 74_37 -1 known missense c.854 p.S285L 1.000 tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors HNRNPLL HGNC ENSG00000143889 131 0 0 149 13 8.02469 FSHR 0 genome.wustl.edu 37 2 49217713 49217713 + Missense_Mutation SNP T T G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 2 49217713 49217713 T G SNP FSHR ENST00000406846 human ensembl 74_37 -1 known missense c.438 p.K146N 1.000 prints_FSH_rcpt,prints_TSH_rcpt pfam_GPCR_Rhodpsn,pfam_GnHR_TM,pfam_LRR-contain_N,pfam_Leu-rich_rpt,smart_LRR-contain_N,pfscan_GPCR_Rhodpsn_7TM,prints_FSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt - no_errors FSHR HGNC ENSG00000170820 162 0 0 114 56 32.9412 ALMS1P 0 genome.wustl.edu 37 2 73900074 73900074 + RNA SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 2 73900074 73900074 G A SNP ALMS1P ENST00000450720 human ensembl 74_37 +1 known rna NULL NULL 0.996 - - - no_errors ALMS1P HGNC ENSG00000163016 10 0 0 10 4 28.5714 C2orf78 0 genome.wustl.edu 37 2 74042217 74042217 + Silent SNP G G T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 2 74042217 74042217 G T SNP C2orf78 ENST00000409561 human ensembl 74_37 +1 novel silent c.867 p.G289 0.997 NULL NULL - no_errors C2orf78 HGNC ENSG00000187833 146 0 0 125 27 17.7632 NINL 0 genome.wustl.edu 37 20 25484648 25484648 + Silent SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 20 25484648 25484648 G A SNP NINL ENST00000278886 human ensembl 74_37 -1 known silent c.801 p.P267 0.000 pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NINL HGNC ENSG00000101004 286 0 0 267 106 28.4182 MYH7B 0 genome.wustl.edu 37 20 33578612 33578612 + Silent SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 20 33578612 33578612 C T SNP MYH7B ENST00000262873 human ensembl 74_37 +1 novel silent c.2175 p.N725 0.996 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7B HGNC ENSG00000078814 56 0 0 80 20 20 SDC4 0 genome.wustl.edu 37 20 43955966 43955966 + Missense_Mutation SNP T T C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 20 43955966 43955966 T C SNP SDC4 ENST00000372733 human ensembl 74_37 -1 known missense c.535 p.S179G 1.000 pfam_Syndecan/Neurexin_dom,smart_Neurexin-like pfam_Syndecan/Neurexin_dom,smart_Neurexin-like - no_errors SDC4 HGNC ENSG00000124145 122 1 0.813008 86 31 26.4957 ZNF831 0 genome.wustl.edu 37 20 57767362 57767362 + Missense_Mutation SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 20 57767362 57767362 C T SNP ZNF831 ENST00000371030 human ensembl 74_37 +1 novel missense c.1288 p.R430W 0.993 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 20 0 0 29 13 30.9524 MYT1 0 genome.wustl.edu 37 20 62837128 62837128 + Missense_Mutation SNP G G C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 20 62837128 62837128 G C SNP MYT1 ENST00000536311 human ensembl 74_37 +1 known missense c.372 p.E124D 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1 HGNC ENSG00000196132 65 0 0 78 27 25.7143 ADAMTS1 0 genome.wustl.edu 37 21 28211920 28211920 + Missense_Mutation SNP C C G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 21 28211920 28211920 C G SNP ADAMTS1 ENST00000284984 human ensembl 74_37 -1 known missense c.2014 p.V672L 1.000 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS1,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS1 HGNC ENSG00000154734 311 0 0 263 21 7.39437 KRTAP27-1 0 genome.wustl.edu 37 21 31709567 31709567 + Silent SNP A A G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 21 31709567 31709567 A G SNP KRTAP27-1 ENST00000382835 human ensembl 74_37 -1 known silent c.420 p.S140 0.000 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP27-1 HGNC ENSG00000206107 383 0 0 308 97 23.9506 ITGB2 0 genome.wustl.edu 37 21 46326905 46326905 + Missense_Mutation SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 21 46326905 46326905 C T SNP ITGB2 ENST00000302347 human ensembl 74_37 -1 known missense c.253 p.A85T 0.017 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt_dom,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB2 HGNC ENSG00000160255 104 0 0 95 30 24 ADARB1 0 genome.wustl.edu 37 21 46603400 46603400 + Silent SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 21 46603400 46603400 C T SNP ADARB1 ENST00000360697 human ensembl 74_37 +1 known silent c.1371 p.F457 1.000 pfam_A_deamin,superfamily_Cytokine_IL1-like,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,pfam_dsRNA-bd_dom,superfamily_Cytokine_IL1-like,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin - no_errors ADARB1 HGNC ENSG00000197381 59 0 0 47 27 36.4865 COL6A2 0 genome.wustl.edu 37 21 47532203 47532203 + Silent SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 21 47532203 47532203 G A SNP COL6A2 ENST00000300527 human ensembl 74_37 +1 known silent c.426 p.T142 0.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A2 HGNC ENSG00000142173 37 0 0 22 11 33.3333 LZTR1 0 genome.wustl.edu 37 22 21347143 21347143 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 22 21347143 21347143 G A SNP LZTR1 ENST00000215739 human ensembl 74_37 +1 known missense c.1210 p.G404R 1.000 NULL pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_Kelch_1,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors LZTR1 HGNC ENSG00000099949 19 0 0 7 7 50 MGAT3 0 genome.wustl.edu 37 22 39883517 39883517 + Silent SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 22 39883517 39883517 G A SNP MGAT3 ENST00000341184 human ensembl 74_37 +1 known silent c.165 p.P55 0.426 NULL pfam_Glyco_trans_17 - no_errors MGAT3 HGNC ENSG00000128268 214 0 0 88 69 43.949 CACNA1I 0 genome.wustl.edu 37 22 40036887 40036887 + Silent SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 22 40036887 40036887 C T SNP CACNA1I ENST00000336649 human ensembl 74_37 +1 known silent c.756 p.A252 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1I HGNC ENSG00000100346 22 0 0 14 10 41.6667 LSAMP 0 genome.wustl.edu 37 3 115571349 115571349 + Silent SNP T T C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 3 115571349 115571349 T C SNP LSAMP ENST00000490035 human ensembl 74_37 -1 known silent c.630 p.Q210 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LSAMP HGNC ENSG00000185565 118 0 0 107 35 24.6479 MYLK 0 genome.wustl.edu 37 3 123419605 123419605 + Missense_Mutation SNP T T G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 3 123419605 123419605 T G SNP MYLK ENST00000360304 human ensembl 74_37 -1 known missense c.2710 p.K904Q 1.000 NULL pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors MYLK HGNC ENSG00000065534 119 0 0 84 38 31.1475 ATR 0 genome.wustl.edu 37 3 142234270 142234270 + Missense_Mutation SNP C C A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 3 142234270 142234270 C A SNP ATR ENST00000350721 human ensembl 74_37 -1 known missense c.4470 p.W1490C 1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom - no_errors ATR HGNC ENSG00000175054 191 0 0 163 68 29.4372 PIK3CA 0 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 92 0 0 94 10 9.61538 HTR3D 0 genome.wustl.edu 37 3 183756164 183756164 + Missense_Mutation SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 3 183756164 183756164 C T SNP HTR3D ENST00000382489 human ensembl 74_37 +1 known missense c.887 p.P296L 0.001 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd - no_errors HTR3D HGNC ENSG00000186090 74 0 0 48 23 32.3944 LMLN 0 genome.wustl.edu 37 3 197710878 197710878 + Missense_Mutation SNP G G C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 3 197710878 197710878 G C SNP LMLN ENST00000330198 human ensembl 74_37 +1 known missense c.793 p.G265R 1.000 pfam_Peptidase_M8 pfam_Peptidase_M8 - no_errors LMLN HGNC ENSG00000185621 188 0 0 167 28 14.359 LRRN1 0 genome.wustl.edu 37 3 3887829 3887829 + Missense_Mutation SNP C C G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 3 3887829 3887829 C G SNP LRRN1 ENST00000319331 human ensembl 74_37 +1 known missense c.1504 p.Q502E 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRRN1 HGNC ENSG00000175928 243 0 0 179 32 15.1659 ENTPD3 0 genome.wustl.edu 37 3 40429568 40429568 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 3 40429568 40429568 G A SNP ENTPD3 ENST00000301825 human ensembl 74_37 +1 known missense c.20 p.R7H 1.000 NULL pfam_GDA1_CD39_NTPase - no_errors ENTPD3 HGNC ENSG00000168032 125 0 0 112 24 17.6471 MYL3 0 genome.wustl.edu 37 3 46899746 46899746 + Silent SNP G G T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 3 46899746 46899746 G T SNP MYL3 ENST00000292327 human ensembl 74_37 -1 known silent c.576 p.I192 1.000 NULL pfscan_EF_hand_dom - no_errors MYL3 HGNC ENSG00000160808 73 0 0 22 8 26.6667 GPR27 0 genome.wustl.edu 37 3 71803291 71803291 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 3 71803291 71803291 G A SNP GPR27 ENST00000304411 human ensembl 74_37 +1 known missense c.91 p.V31M 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR27 HGNC ENSG00000170837 21 0 0 15 3 16.6667 CNTN3 0 genome.wustl.edu 37 3 74349045 74349045 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 3 74349045 74349045 G A SNP CNTN3 ENST00000263665 human ensembl 74_37 -1 known missense c.2140 p.R714W 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN3 HGNC ENSG00000113805 88 0 0 64 11 14.6667 STX19 0 genome.wustl.edu 37 3 93733918 93733918 + Missense_Mutation SNP C C A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 3 93733918 93733918 C A SNP STX19 ENST00000315099 human ensembl 74_37 -1 known missense c.196 p.D66Y 0.020 pfam_Syntaxin_N,superfamily_t-SNARE pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX19 HGNC ENSG00000178750 301 0 0 259 59 18.5535 EPHA6 0 genome.wustl.edu 37 3 97124019 97124019 + Missense_Mutation SNP G G T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 3 97124019 97124019 G T SNP EPHA6 ENST00000389672 human ensembl 74_37 +1 known missense c.1632 p.R544S 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA6 HGNC ENSG00000080224 32 0 0 20 6 23.0769 ST3GAL6 0 genome.wustl.edu 37 3 98507289 98507289 + Missense_Mutation SNP A A C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 3 98507289 98507289 A C SNP ST3GAL6 ENST00000394162 human ensembl 74_37 +1 known missense c.738 p.K246N 0.059 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL6 HGNC ENSG00000064225 205 0 0 140 72 33.9623 SLC2A9 0 genome.wustl.edu 37 4 10023015 10023015 + Silent SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 4 10023015 10023015 G A SNP SLC2A9 ENST00000264784 human ensembl 74_37 -1 known silent c.39 p.G13 0.000 superfamily_MFS_dom_general_subst_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt - no_errors SLC2A9 HGNC ENSG00000109667 111 0 0 93 10 9.70874 TRAM1L1 0 genome.wustl.edu 37 4 118006001 118006001 + Silent SNP G G C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 4 118006001 118006001 G C SNP TRAM1L1 ENST00000310754 human ensembl 74_37 -1 known silent c.549 p.L183 1.000 pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom pfam_TRAM1,pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom - no_errors TRAM1L1 HGNC ENSG00000174599 190 0 0 183 33 15.2778 FAT4 0 genome.wustl.edu 37 4 126239277 126239277 + Missense_Mutation SNP A A C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 4 126239277 126239277 A C SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.1711 p.T571P 0.081 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 92 0 0 74 31 29.5238 FAT4 0 genome.wustl.edu 37 4 126372259 126372259 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 4 126372259 126372259 G A SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.10088 p.R3363Q 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 301 0 0 245 120 32.8767 FAT4 0 genome.wustl.edu 37 4 126372585 126372585 + Missense_Mutation SNP A A C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 4 126372585 126372585 A C SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.10414 p.T3472P 0.986 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 239 1 0.416667 225 79 25.9868 FAT4 0 genome.wustl.edu 37 4 126411255 126411255 + Silent SNP T T C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 4 126411255 126411255 T C SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known silent c.13278 p.P4426 0.730 pfscan_EG-like_dom pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 218 0 0 168 71 29.7071 RXFP1 0 genome.wustl.edu 37 4 159568065 159568065 + Missense_Mutation SNP T T G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 4 159568065 159568065 T G SNP RXFP1 ENST00000307765 human ensembl 74_37 +1 known missense c.1468 p.S490A 0.992 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Gphrmn_rcpt_fam pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam - no_errors RXFP1 HGNC ENSG00000171509 201 0 0 262 35 11.7845 ADAM29 0 genome.wustl.edu 37 4 175896943 175896943 + Silent SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 4 175896943 175896943 C T SNP ADAM29 ENST00000359240 human ensembl 74_37 +1 known silent c.267 p.I89 0.090 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM29 HGNC ENSG00000168594 119 0 0 53 32 37.6471 NCAPG 0 genome.wustl.edu 37 4 17844978 17844978 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 4 17844978 17844978 G A SNP NCAPG ENST00000251496 human ensembl 74_37 +1 known missense c.2978 p.R993Q 1.000 NULL superfamily_ARM-type_fold - no_errors NCAPG HGNC ENSG00000109805 174 0 0 136 63 31.6583 YIPF7 0 genome.wustl.edu 37 4 44624465 44624465 + Missense_Mutation SNP A A T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 4 44624465 44624465 A T SNP YIPF7 ENST00000332990 human ensembl 74_37 -1 known missense c.809 p.L270H 1.000 NULL pfam_Yip1 - no_errors YIPF7 HGNC ENSG00000177752 46 0 0 41 18 30.5085 JAKMIP1 0 genome.wustl.edu 37 4 6086631 6086631 + Nonsense_Mutation SNP G G T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 4 6086631 6086631 G T SNP JAKMIP1 ENST00000409021 human ensembl 74_37 -1 known nonsense c.896 p.S299* 0.883 NULL NULL - no_errors JAKMIP1 HGNC ENSG00000152969 467 0 0 381 121 24.1036 APC 0 genome.wustl.edu 37 5 112174378 112174378 + Silent SNP T T G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 5 112174378 112174378 T G SNP APC ENST00000257430 human ensembl 74_37 +1 known silent c.3087 p.L1029 0.998 pfam_APC_15aa_rpt pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 190 0 0 113 50 30.6748 SRP19 0 genome.wustl.edu 37 5 112197085 112197085 + Silent SNP T T A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 5 112197085 112197085 T A SNP SRP19 ENST00000505459 human ensembl 74_37 +1 known silent c.12 p.A4 0.004 NULL pfam_Signal_recog_particle_SRP19,superfamily_Signal_recog_particle_SRP19 - no_errors SRP19 HGNC ENSG00000153037 189 0 0 149 36 19.4595 CTNND2 0 genome.wustl.edu 37 5 11236905 11236905 + Silent SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 5 11236905 11236905 C T SNP CTNND2 ENST00000304623 human ensembl 74_37 -1 known silent c.1659 p.P553 0.104 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND2 HGNC ENSG00000169862 172 0 0 128 48 27.2727 PCDHA3 0 genome.wustl.edu 37 5 140182291 140182291 + Silent SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 5 140182291 140182291 G A SNP PCDHA3 ENST00000522353 human ensembl 74_37 +1 known silent c.1509 p.A503 0.011 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA3 HGNC ENSG00000255408 91 0 0 78 28 26.4151 PCDHA10 0 genome.wustl.edu 37 5 140236909 140236909 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 5 140236909 140236909 G A SNP PCDHA10 ENST00000307360 human ensembl 74_37 +1 known missense c.1276 p.A426T 0.995 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA10 HGNC ENSG00000250120 153 0 0 120 39 24.5283 PCDHA10 0 genome.wustl.edu 37 5 140237036 140237036 + Missense_Mutation SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 5 140237036 140237036 C T SNP PCDHA10 ENST00000307360 human ensembl 74_37 +1 known missense c.1403 p.P468L 0.015 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA10 HGNC ENSG00000250120 145 0 0 103 36 25.8993 ENSG00000249034 0 genome.wustl.edu 37 5 140242853 140242853 + Silent SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 5 140242853 140242853 G A SNP ENSG00000249034 ENST00000502505 human ensembl 74_37 -1 known silent c.123 p.S41 0.000 NULL NULL - no_errors AC005609.1 Clone_based_ensembl_gene ENSG00000249034 39 0 0 36 18 33.3333 PCDHB13 0 genome.wustl.edu 37 5 140594941 140594941 + Missense_Mutation SNP G G C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 5 140594941 140594941 G C SNP PCDHB13 ENST00000341948 human ensembl 74_37 +1 known missense c.1246 p.E416Q 0.028 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB13 HGNC ENSG00000187372 130 0 0 84 35 29.4118 PCDHGA4 0 genome.wustl.edu 37 5 140734966 140734966 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 5 140734966 140734966 G A SNP PCDHGA4 ENST00000571252 human ensembl 74_37 +1 known missense c.199 p.V67I 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA4 HGNC ENSG00000262576 105 0 0 82 35 29.9145 GALNT10 0 genome.wustl.edu 37 5 153795429 153795429 + Silent SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 5 153795429 153795429 C T SNP GALNT10 ENST00000297107 human ensembl 74_37 +1 known silent c.1590 p.T530 1.000 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT10 HGNC ENSG00000164574 167 0 0 110 29 20.8633 GHR 0 genome.wustl.edu 37 5 42719406 42719406 + Silent SNP T T C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 5 42719406 42719406 T C SNP GHR ENST00000230882 human ensembl 74_37 +1 known silent c.1797 p.H599 0.453 NULL pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors GHR HGNC ENSG00000112964 112 0 0 87 43 33.0769 FAM169A 0 genome.wustl.edu 37 5 74135907 74135907 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 5 74135907 74135907 G A SNP FAM169A ENST00000389156 human ensembl 74_37 -1 known missense c.224 p.S75L 1.000 NULL NULL - no_errors FAM169A HGNC ENSG00000198780 98 0 0 80 5 5.88235 ADCY2 0 genome.wustl.edu 37 5 7707861 7707861 + Silent SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 5 7707861 7707861 C T SNP ADCY2 ENST00000338316 human ensembl 74_37 +1 known silent c.1311 p.G437 0.265 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY2 HGNC ENSG00000078295 203 0 0 149 61 29.0476 BHMT 0 genome.wustl.edu 37 5 78417157 78417157 + Silent SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 5 78417157 78417157 C T SNP BHMT ENST00000274353 human ensembl 74_37 +1 known silent c.594 p.P198 0.108 pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase - no_errors BHMT HGNC ENSG00000145692 98 0 0 112 13 10.4 CMYA5 0 genome.wustl.edu 37 5 79026957 79026957 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 5 79026957 79026957 G A SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known missense c.2369 p.R790H 0.000 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 121 0 0 84 31 26.9565 CMYA5 0 genome.wustl.edu 37 5 79031339 79031339 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 5 79031339 79031339 G A SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known missense c.6751 p.G2251S 0.008 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 216 0 0 180 74 29.1339 FAM174A 0 genome.wustl.edu 37 5 99921994 99921994 + RNA SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 5 99921994 99921994 G A SNP FAM174A ENST00000505792 human ensembl 74_37 +1 putative rna NULL NULL 1.000 - - - no_errors FAM174A HGNC ENSG00000174132 85 0 0 54 19 26.0274 GRIK2 0 genome.wustl.edu 37 6 102069961 102069961 + Missense_Mutation SNP C C A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 6 102069961 102069961 C A SNP GRIK2 ENST00000421544 human ensembl 74_37 +1 known missense c.253 p.L85I 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK2 HGNC ENSG00000164418 171 0 0 142 35 19.774 TRDN 0 genome.wustl.edu 37 6 123786070 123786070 + Silent SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 6 123786070 123786070 C T SNP TRDN ENST00000398178 human ensembl 74_37 -1 known silent c.912 p.P304 0.000 NULL pfam_Asp-B-hydro/Triadin_dom - no_errors TRDN HGNC ENSG00000186439 12 0 0 13 4 23.5294 VNN2 0 genome.wustl.edu 37 6 133072431 133072431 + Silent SNP A A G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 6 133072431 133072431 A G SNP VNN2 ENST00000326499 human ensembl 74_37 -1 known silent c.1053 p.L351 0.013 pirsf_Biotinidase_euk pirsf_Biotinidase_euk,pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase - no_errors VNN2 HGNC ENSG00000112303 252 0 0 201 64 24.1509 JARID2 0 genome.wustl.edu 37 6 15497183 15497183 + Missense_Mutation SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 6 15497183 15497183 C T SNP JARID2 ENST00000341776 human ensembl 74_37 +1 known missense c.1727 p.S576L 1.000 pfam_TF_JmjN,smart_TF_JmjN,pfscan_TF_JmjN pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd - no_errors JARID2 HGNC ENSG00000008083 38 0 0 22 4 15.3846 MLLT4 0 genome.wustl.edu 37 6 168351867 168351867 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 6 168351867 168351867 G A SNP MLLT4 ENST00000366806 human ensembl 74_37 +1 known missense c.3812 p.R1271H 0.980 NULL pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors MLLT4 HGNC ENSG00000130396 99 0 0 67 23 25.5556 DCDC2 0 genome.wustl.edu 37 6 24205380 24205380 + Silent SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 6 24205380 24205380 G A SNP DCDC2 ENST00000378450 human ensembl 74_37 -1 known silent c.132 p.H44 0.998 NULL NULL - no_errors DCDC2 HGNC ENSG00000146038 180 0 0 130 24 15.5844 HIST1H1E 0 genome.wustl.edu 37 6 26156642 26156642 + Silent SNP G G T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 6 26156642 26156642 G T SNP HIST1H1E ENST00000304218 human ensembl 74_37 +1 known silent c.24 p.A8 0.897 NULL pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1E HGNC ENSG00000168298 93 0 0 68 14 17.0732 SLC22A23 0 genome.wustl.edu 37 6 3273341 3273341 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 6 3273341 3273341 G A SNP SLC22A23 ENST00000406686 human ensembl 74_37 -1 known missense c.2009 p.A670V 0.000 NULL pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A23 HGNC ENSG00000137266 109 0 0 47 20 29.8507 ABCC10 0 genome.wustl.edu 37 6 43400000 43400000 + Silent SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 6 43400000 43400000 C T SNP ABCC10 ENST00000372530 human ensembl 74_37 +1 known silent c.282 p.G94 0.989 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC10 HGNC ENSG00000124574 146 0 0 89 20 18.3486 BAI3 0 genome.wustl.edu 37 6 69653817 69653817 + Missense_Mutation SNP C C G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 6 69653817 69653817 C G SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known missense c.1126 p.Q376E 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 205 0 0 125 50 28.5714 BAI3 0 genome.wustl.edu 37 6 69666609 69666609 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 6 69666609 69666609 G A SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known missense c.1433 p.R478Q 0.970 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 141 1 0.704225 90 36 28.5714 MDN1 0 genome.wustl.edu 37 6 90371258 90371258 + Missense_Mutation SNP T T C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 6 90371258 90371258 T C SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known missense c.14605 p.N4869D 0.998 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 151 0 0 81 35 30.1724 MDN1 0 genome.wustl.edu 37 6 90457135 90457135 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 6 90457135 90457135 G A SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known missense c.3817 p.R1273C 0.999 superfamily_P-loop_NTPase,pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 96 0 0 69 21 23.3333 GPR146 0 genome.wustl.edu 37 7 1097720 1097720 + Missense_Mutation SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 7 1097720 1097720 C T SNP GPR146 ENST00000297468 human ensembl 74_37 +1 known missense c.569 p.T190M 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR146 HGNC ENSG00000164849 38 0 0 20 12 37.5 LRRN3 0 genome.wustl.edu 37 7 110763771 110763771 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 7 110763771 110763771 G A SNP LRRN3 ENST00000308478 human ensembl 74_37 +1 known missense c.943 p.E315K 1.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRRN3 HGNC ENSG00000173114 160 0 0 158 30 15.9574 C7orf60 0 genome.wustl.edu 37 7 112462090 112462090 + Missense_Mutation SNP T T G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 7 112462090 112462090 T G SNP C7orf60 ENST00000297145 human ensembl 74_37 -1 known missense c.927 p.K309N 1.000 pfam_DUF3321 pfam_DUF3321 - no_errors C7orf60 HGNC ENSG00000164603 135 0 0 132 46 25.8427 CHRM2 0 genome.wustl.edu 37 7 136700588 136700588 + Missense_Mutation SNP A A G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 7 136700588 136700588 A G SNP CHRM2 ENST00000320658 human ensembl 74_37 +1 known missense c.976 p.R326G 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM2 HGNC ENSG00000181072 165 0 0 140 46 24.7312 HDAC9 0 genome.wustl.edu 37 7 18630090 18630090 + Silent SNP C C A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 7 18630090 18630090 C A SNP HDAC9 ENST00000441542 human ensembl 74_37 +1 known silent c.396 p.G132 1.000 pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC9 HGNC ENSG00000048052 19 0 0 17 4 19.0476 DNAH11 0 genome.wustl.edu 37 7 21639427 21639427 + Missense_Mutation SNP C C A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 7 21639427 21639427 C A SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known missense c.2690 p.A897D 0.974 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 55 0 0 47 12 20.339 HEPACAM2 0 genome.wustl.edu 37 7 92826556 92826556 + Nonsense_Mutation SNP G G T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 7 92826556 92826556 G T SNP HEPACAM2 ENST00000394468 human ensembl 74_37 -1 known nonsense c.1199 p.S400* 1.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors HEPACAM2 HGNC ENSG00000188175 126 0 0 118 39 24.8408 COL1A2 0 genome.wustl.edu 37 7 94052411 94052411 + Missense_Mutation SNP C C G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 7 94052411 94052411 C G SNP COL1A2 ENST00000297268 human ensembl 74_37 +1 known missense c.2546 p.S849C 0.980 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fib_collagen_C - no_errors COL1A2 HGNC ENSG00000164692 178 0 0 136 61 30.9645 RGS22 0 genome.wustl.edu 37 8 101092395 101092395 + Silent SNP T T C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 8 101092395 101092395 T C SNP RGS22 ENST00000360863 human ensembl 74_37 -1 known silent c.306 p.E102 0.003 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam - no_errors RGS22 HGNC ENSG00000132554 250 0 0 321 96 23.0216 RIMS2 0 genome.wustl.edu 37 8 104898096 104898096 + Silent SNP T T G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 8 104898096 104898096 T G SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known silent c.1269 p.S423 0.998 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 117 0 0 122 38 23.75 RIMS2 0 genome.wustl.edu 37 8 104898323 104898323 + Missense_Mutation SNP A A T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 8 104898323 104898323 A T SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known missense c.1496 p.H499L 1.000 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 78 0 0 129 23 15.1316 RIMS2 0 genome.wustl.edu 37 8 105161047 105161047 + Missense_Mutation SNP G G T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 8 105161047 105161047 G T SNP RIMS2 ENST00000436393 human ensembl 74_37 +1 novel missense c.3359 p.S1120I 1.000 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors RIMS2 HGNC ENSG00000176406 160 0 0 188 31 14.1553 SNTB1 0 genome.wustl.edu 37 8 121587425 121587425 + Missense_Mutation SNP A A C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 8 121587425 121587425 A C SNP SNTB1 ENST00000395601 human ensembl 74_37 -1 known missense c.1037 p.V346G 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_PDZ,pfam_Pleckstrin_homology,superfamily_PDZ,smart_Pleckstrin_homology,smart_PDZ,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTB1 HGNC ENSG00000172164 227 0 0 467 53 10.1923 TMEM66 0 genome.wustl.edu 37 8 29927339 29927339 + Missense_Mutation SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 8 29927339 29927339 C T SNP TMEM66 ENST00000256255 human ensembl 74_37 -1 known missense c.519 p.M173I 0.000 pfam_DUF1183_TMEM66 pfam_DUF1183_TMEM66 - no_errors TMEM66 HGNC ENSG00000133872 221 1 0.45045 142 54 27.551 CSMD1 0 genome.wustl.edu 37 8 3432554 3432554 + Silent SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 8 3432554 3432554 G A SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known silent c.1260 p.S420 0.997 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 81 0 0 46 25 35.2113 PXDNL 0 genome.wustl.edu 37 8 52370214 52370214 + Missense_Mutation SNP A A C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 8 52370214 52370214 A C SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known missense c.826 p.L276V 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDNL HGNC ENSG00000147485 267 1 0.373134 417 71 14.5492 PXDNL 0 genome.wustl.edu 37 8 52384802 52384802 + Missense_Mutation SNP A A C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 8 52384802 52384802 A C SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known missense c.757 p.F253V 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDNL HGNC ENSG00000147485 149 0 0 262 53 16.8254 RRS1 0 genome.wustl.edu 37 8 67341800 67341800 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 8 67341800 67341800 G A SNP RRS1 ENST00000320270 human ensembl 74_37 +1 known missense c.434 p.G145D 1.000 pfam_Ribosom_reg pfam_Ribosom_reg - no_errors RRS1 HGNC ENSG00000179041 16 0 0 33 5 13.1579 SULF1 0 genome.wustl.edu 37 8 70517161 70517161 + Silent SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 8 70517161 70517161 G A SNP SULF1 ENST00000260128 human ensembl 74_37 +1 known silent c.1371 p.P457 0.130 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF1 HGNC ENSG00000137573 172 0 0 276 41 12.9338 SULF1 0 genome.wustl.edu 37 8 70533427 70533427 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 8 70533427 70533427 G A SNP SULF1 ENST00000260128 human ensembl 74_37 +1 known missense c.1535 p.R512H 0.741 superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF1 HGNC ENSG00000137573 61 0 0 54 38 41.3043 NCOA2 0 genome.wustl.edu 37 8 71078867 71078867 + Nonsense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 8 71078867 71078867 G A SNP NCOA2 ENST00000452400 human ensembl 74_37 -1 known nonsense c.664 p.Q222* 1.000 pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA2 HGNC ENSG00000140396 439 0 0 741 169 18.5714 SVEP1 0 genome.wustl.edu 37 9 113261413 113261413 + Missense_Mutation SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 9 113261413 113261413 C T SNP SVEP1 ENST00000401783 human ensembl 74_37 -1 known missense c.1589 p.R530H 0.971 superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 50 0 0 55 19 25.6757 TLR4 0 genome.wustl.edu 37 9 120476158 120476158 + Silent SNP T T G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 9 120476158 120476158 T G SNP TLR4 ENST00000355622 human ensembl 74_37 +1 known silent c.1752 p.T584 0.008 pirsf_Toll-like_receptor,smart_Cys-rich_flank_reg_C pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR4 HGNC ENSG00000136869 105 0 0 110 32 22.5352 SLC25A25 0 genome.wustl.edu 37 9 130869718 130869718 + Missense_Mutation SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 9 130869718 130869718 C T SNP SLC25A25 ENST00000373069 human ensembl 74_37 +1 known missense c.1543 p.R515W 0.994 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC - no_errors SLC25A25 HGNC ENSG00000148339 79 0 0 75 32 29.9065 DDX31 0 genome.wustl.edu 37 9 135522272 135522272 + Missense_Mutation SNP T T C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 9 135522272 135522272 T C SNP DDX31 ENST00000372159 human ensembl 74_37 -1 known missense c.1456 p.T486A 0.477 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX31 HGNC ENSG00000125485 205 0 0 156 48 23.5294 CACNA1B 0 genome.wustl.edu 37 9 140904511 140904511 + Silent SNP C C T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 9 140904511 140904511 C T SNP CACNA1B ENST00000371355 human ensembl 74_37 +1 known silent c.2145 p.N715 0.655 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC ENSG00000148408 67 0 0 53 23 30.2632 ANKRD20A1 0 genome.wustl.edu 37 9 67952005 67952005 + Missense_Mutation SNP G G C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 9 67952005 67952005 G C SNP ANKRD20A1 ENST00000377477 human ensembl 74_37 +1 known missense c.968 p.G323A 0.670 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD20A1 HGNC ENSG00000196774 256 0 0 248 44 15.0685 PTPRD 0 genome.wustl.edu 37 9 8518071 8518071 + Missense_Mutation SNP T T G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 9 8518071 8518071 T G SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known missense c.1320 p.E440D 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 356 0 0 148 97 39.5918 IL1RAPL2 0 genome.wustl.edu 37 X 104512136 104512136 + Missense_Mutation SNP A A C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca X 104512136 104512136 A C SNP IL1RAPL2 ENST00000344799 human ensembl 74_37 +1 known missense c.609 p.E203D 0.994 smart_Ig_sub,pfscan_Ig-like_dom pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom,prints_IL-1_rcpt_II-typ - no_errors IL1RAPL2 HGNC ENSG00000189108 78 0 0 48 49 50.5155 MUM1L1 0 genome.wustl.edu 37 X 105450084 105450084 + Missense_Mutation SNP T T C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca X 105450084 105450084 T C SNP MUM1L1 ENST00000337685 human ensembl 74_37 +1 known missense c.659 p.V220A 0.000 NULL superfamily_PyrdxlP-dep_Trfase - no_errors MUM1L1 HGNC ENSG00000157502 34 0 0 15 21 58.3333 MAGEC3 0 genome.wustl.edu 37 X 140985099 140985099 + Missense_Mutation SNP G G T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca X 140985099 140985099 G T SNP MAGEC3 ENST00000298296 human ensembl 74_37 +1 known missense c.1555 p.D519Y 0.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEC3 HGNC ENSG00000165509 178 0 0 68 112 62.2222 GABRQ 0 genome.wustl.edu 37 X 151820193 151820193 + Missense_Mutation SNP G G A TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca X 151820193 151820193 G A SNP GABRQ ENST00000370306 human ensembl 74_37 +1 known missense c.1106 p.R369Q 0.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAt_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABAAb_rcpt,prints_GABAAa_rcpt,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRQ HGNC ENSG00000147402 77 0 0 36 74 67.2727 PDHA1 0 genome.wustl.edu 37 X 19372671 19372671 + Silent SNP G G C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca X 19372671 19372671 G C SNP PDHA1 ENST00000379806 human ensembl 74_37 +1 known silent c.687 p.L229 1.000 pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y - no_errors PDHA1 HGNC ENSG00000131828 131 0 0 47 76 61.7886 AMER1 0 genome.wustl.edu 37 X 63409832 63409832 + Missense_Mutation SNP T T G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca X 63409832 63409832 T G SNP AMER1 ENST00000330258 human ensembl 74_37 -1 known missense c.3335 p.E1112A 0.918 NULL pfam_Uncharacterised_FAM123 - no_errors AMER1 HGNC ENSG00000184675 17 0 0 9 12 57.1429 AR 0 genome.wustl.edu 37 X 66941796 66941796 + Missense_Mutation SNP T T G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca X 66941796 66941796 T G SNP AR ENST00000374690 human ensembl 74_37 +1 known missense c.2440 p.F814V 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt - no_errors AR HGNC ENSG00000169083 49 0 0 34 8 19.0476 HDAC8 0 genome.wustl.edu 37 X 71549911 71549911 + Missense_Mutation SNP A A G TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca X 71549911 71549911 A G SNP HDAC8 ENST00000373573 human ensembl 74_37 -1 known missense c.1127 p.V376A 1.000 pirsf_His_deacetylse_1 pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1,prints_His_deacetylse - no_errors HDAC8 HGNC ENSG00000147099 75 0 0 79 5 5.95238 ATRX 0 genome.wustl.edu 37 X 76944359 76944359 + Silent SNP T T C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca X 76944359 76944359 T C SNP ATRX ENST00000373344 human ensembl 74_37 -1 known silent c.546 p.Q182 0.995 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 106 0 0 56 95 62.9139 CYLC1 0 genome.wustl.edu 37 X 83124879 83124879 + Missense_Mutation SNP A A C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca X 83124879 83124879 A C SNP CYLC1 ENST00000329312 human ensembl 74_37 +1 known missense c.24 p.K8N 0.037 NULL NULL - no_errors CYLC1 HGNC ENSG00000183035 10 0 0 3 5 62.5 CYLC1 0 genome.wustl.edu 37 X 83129288 83129288 + Silent SNP T T C TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca X 83129288 83129288 T C SNP CYLC1 ENST00000329312 human ensembl 74_37 +1 known silent c.1572 p.F524 0.006 NULL NULL - no_errors CYLC1 HGNC ENSG00000183035 36 0 0 23 36 61.0169 DACH2 0 genome.wustl.edu 37 X 85950165 85950165 + Missense_Mutation SNP A A T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca X 85950165 85950165 A T SNP DACH2 ENST00000373125 human ensembl 74_37 +1 known missense c.914 p.N305I 1.000 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH2 HGNC ENSG00000126733 23 0 0 17 3 15 FAM133A 0 genome.wustl.edu 37 X 92965165 92965165 + Nonstop_Mutation SNP A A T TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca X 92965165 92965165 A T SNP FAM133A ENST00000322139 human ensembl 74_37 +1 known nonstop c.747 p.*249Y 0.005 NULL NULL - no_errors FAM133A HGNC ENSG00000179083 50 0 0 34 45 56.962 DCAF6 0 genome.wustl.edu 37 1 167992232 167992234 + In_Frame_Del DEL CTT CTT - TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 1 167992232 167992234 CTT - DEL DCAF6 ENST00000367840 human ensembl 74_37 +1 known in_frame_del c.1556_1558 p.S521in_frame_del 1.000:1.000:1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_IQ_motif_EF-hand-BS,pfscan_WD40_repeat_dom - no_errors DCAF6 HGNC ENSG00000143164 94 0 0 73 8 9.87654 OR14C36 0 genome.wustl.edu 37 1 248512384 248512384 + Frame_Shift_Del DEL T T - TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 1 248512384 248512384 T - DEL OR14C36 ENST00000317861 human ensembl 74_37 +1 known frame_shift_del c.308 p.F105fs 0.004 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 OR14C36 HGNC ENSG00000177174 103 0 0 96 26 21.3115 OR56B1 0 genome.wustl.edu 37 11 5758135 5758136 + Frame_Shift_Del DEL AT AT - TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 11 5758135 5758136 AT - DEL OR56B1 ENST00000317121 human ensembl 74_37 +1 known frame_shift_del c.389_390 p.D130fs 1.000:0.999 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 OR56B1 HGNC ENSG00000181023 148 0 0 92 21 18.5841 TTC3 0 genome.wustl.edu 37 21 38494204 38494204 + Frame_Shift_Del DEL A A - TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 21 38494204 38494204 A - DEL TTC3 ENST00000354749 human ensembl 74_37 +1 known frame_shift_del c.988 p.N331fs 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like_dom,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC ENSG00000182670 149 0 0 112 41 26.7974 PKD2L2 0 genome.wustl.edu 37 5 137226241 137226245 + Frame_Shift_Del DEL TACTT TACTT - TCGA-D7-5578-01A-01D-1600-08 TCGA-D7-5578-10A-01D-1600-08 TACTT TACTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41bdfaa5-34ef-4073-86a5-257566dd7181 aef1712d-397b-4383-b9fa-d39322bd61ca 5 137226241 137226245 TACTT - DEL PKD2L2 ENST00000508883 human ensembl 74_37 +1 known frame_shift_del c.103_107 p.I37fs 1.000:1.000:1.000:0.995:0.996 NULL pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2 - no_errors PKD2L2 HGNC ENSG00000078795 150 0 0 149 54 26.601