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 ABCA8 10351 genome.wustl.edu 37 17 66887638 66887638 + Missense_Mutation SNP C C A TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 17 66887638 66887638 C A SNP ABCA8 ENST00000430352 human ensembl 70_37 -1 known missense c.3136 p.D1046Y 0.898 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA8 HGNC ATP1B4 23439 genome.wustl.edu 37 X 119509335 119509335 + Missense_Mutation SNP G G A TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 X 119509335 119509335 G A SNP ATP1B4 ENST00000218008 human ensembl 70_37 +1 known missense c.671 p.R224H 1.000 pfam_ATPase_P-typ_cation-exchng_bsu,tigrfam_ATPase_P-typ_cation-exchng_bsu pfam_ATPase_P-typ_cation-exchng_bsu,tigrfam_ATPase_P-typ_cation-exchng_bsu - no_errors ATP1B4 HGNC BCAN 63827 genome.wustl.edu 37 1 156617459 156617459 + Missense_Mutation SNP C C T TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 1 156617459 156617459 C T SNP BCAN ENST00000329117 human ensembl 70_37 +1 known missense c.626 p.S209L 0.963 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link,prints_AntifreezeII - no_errors BCAN HGNC CACNA1E 777 genome.wustl.edu 37 1 181745324 181745324 + Missense_Mutation SNP G G A TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 1 181745324 181745324 G A SNP CACNA1E ENST00000367573 human ensembl 70_37 +1 known missense c.5227 p.E1743K 1.000 pfscan_EF_HAND_2 pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC CACNG3 10368 genome.wustl.edu 37 16 24358139 24358139 + Splice_Site SNP G G A TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 16 24358139 24358139 G A SNP CACNG3 ENST00000005284 human ensembl 70_37 +1 known splice_site c.295+1 e2+1 1.000 - - - no_errors CACNG3 HGNC CADPS 8618 genome.wustl.edu 37 3 62556598 62556598 + Silent SNP G G A TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 3 62556598 62556598 G A SNP CADPS ENST00000383710 human ensembl 70_37 -1 known silent c.1593 p.I531 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Ca-dep_secretion_activator,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS HGNC CBS 875 genome.wustl.edu 37 21 44488638 44488638 + Silent SNP G G A TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 21 44488638 44488638 G A SNP CBS ENST00000398168 human ensembl 70_37 -1 known silent c.297 p.F99 0.047 pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,tigrfam_Cysta_beta_synth pfam_Trp_syn_b_sub_like_PLP_eny_SF,pfam_Cysta_beta_synth_core,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,smart_Cysta_beta_synth_core,tigrfam_Cysta_beta_synth - no_errors CBS HGNC DCHS1 8642 genome.wustl.edu 37 11 6651131 6651131 + Missense_Mutation SNP C C T TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 11 6651131 6651131 C T SNP DCHS1 ENST00000299441 human ensembl 70_37 -1 known missense c.4807 p.V1603M 0.658 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC DCLK1 9201 genome.wustl.edu 37 13 36396959 36396959 + Silent SNP G G A TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 13 36396959 36396959 G A SNP DCLK1 ENST00000360631 human ensembl 70_37 -1 known silent c.1461 p.D487 0.961 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_cat_dom - no_errors DCLK1 HGNC DENND6B 414918 genome.wustl.edu 37 22 50757410 50757410 + Missense_Mutation SNP C C T TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 22 50757410 50757410 C T SNP DENND6B ENST00000413817 human ensembl 70_37 -1 known missense c.200 p.R67Q 0.980 pfam_Afi1_N,pfam_Secretory_pathway_prot_Avl9 pfam_Afi1_N,pfam_DENN_dom,pfam_Secretory_pathway_prot_Avl9 - no_errors DENND6B HGNC DGKB 1607 genome.wustl.edu 37 7 14758207 14758207 + Silent SNP C C T TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 7 14758207 14758207 C T SNP DGKB ENST00000258767 human ensembl 70_37 -1 known silent c.426 p.L142 1.000 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKB HGNC DLL1 28514 genome.wustl.edu 37 6 170594675 170594675 + Missense_Mutation SNP C C G TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 6 170594675 170594675 C G SNP DLL1 ENST00000366756 human ensembl 70_37 -1 known missense c.844 p.G282R 1.000 smart_EG-like_dom pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_DSL,pfscan_EG-like_dom - no_errors DLL1 HGNC DNAH5 1767 genome.wustl.edu 37 5 13786454 13786454 + Missense_Mutation SNP G G A TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 5 13786454 13786454 G A SNP DNAH5 ENST00000265104 human ensembl 70_37 -1 known missense c.8654 p.T2885I 0.995 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH5 HGNC AGO1 26523 genome.wustl.edu 37 1 36372633 36372633 + Missense_Mutation SNP G G A TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 1 36372633 36372633 G A SNP EIF2C1 ENST00000373204 human ensembl 70_37 +1 known missense c.1495 p.V499M 1.000 superfamily_RNaseH-like_dom pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors EIF2C1 HGNC FAM186B 84070 genome.wustl.edu 37 12 49994424 49994424 + Silent SNP C C T TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 12 49994424 49994424 C T SNP FAM186B ENST00000257894 human ensembl 70_37 -1 known silent c.999 p.E333 0.027 NULL NULL - no_errors FAM186B HGNC FKBP7 51661 genome.wustl.edu 37 2 179343117 179343117 + Missense_Mutation SNP A A G TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 2 179343117 179343117 A G SNP FKBP7 ENST00000424785 human ensembl 70_37 -1 known missense c.110 p.I37T 1.000 NULL pfam_PPIase_FKBP_dom,pfscan_EF_HAND_2,pfscan_PPIase_FKBP_dom - no_errors FKBP7 HGNC FXR1 8087 genome.wustl.edu 37 3 180666162 180666162 + Missense_Mutation SNP G G C TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 3 180666162 180666162 G C SNP FXR1 ENST00000357559 human ensembl 70_37 +1 known missense c.298 p.D100H 1.000 pfam_Agenet-like_dom pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,superfamily_NA-bd_OB-fold-like,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FXR1 HGNC GRM6 2916 genome.wustl.edu 37 5 178418890 178418890 + Silent SNP G G A TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 5 178418890 178418890 G A SNP GRM6 ENST00000231188 human ensembl 70_37 -1 known silent c.699 p.F233 1.000 pfam_ANF_lig-bd_rcpt,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_6,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM6 HGNC GSX1 219409 genome.wustl.edu 37 13 28367727 28367727 + Missense_Mutation SNP G G A TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 13 28367727 28367727 G A SNP GSX1 ENST00000302945 human ensembl 70_37 +1 known missense c.437 p.S146N 1.000 superfamily_Homeodomain-like,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors GSX1 HGNC HMP19 51617 genome.wustl.edu 37 5 173491307 173491307 + Missense_Mutation SNP G G A TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 5 173491307 173491307 G A SNP HMP19 ENST00000303177 human ensembl 70_37 +1 known missense c.202 p.A68T 1.000 pfam_D1-dopamine_rcpt_interact,pirsf_D1-dopamine_rcpt_interact pfam_D1-dopamine_rcpt_interact,pirsf_D1-dopamine_rcpt_interact - no_errors NSG2 Uniprot_genename IL1A 3552 genome.wustl.edu 37 2 113539283 113539283 + Missense_Mutation SNP C C T TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 2 113539283 113539283 C T SNP IL1A ENST00000263339 human ensembl 70_37 -1 known missense c.217 p.V73I 0.000 pfam_IL1_propep,prints_InterleukinIL1AB pfam_IL1_propep,pfam_Interleukin_1,superfamily_Cytokine_IL1-like,smart_Interleukin_1,prints_InterleukinIL1A,prints_InterleukinIL1AB,prints_Interleukin_1 - no_errors IL1A HGNC ITPR1 3708 genome.wustl.edu 37 3 4712441 4712441 + Missense_Mutation SNP G G T TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 3 4712441 4712441 G T SNP ITPR1 ENST00000302640 human ensembl 70_37 +1 known missense c.1990 p.G664C 0.989 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC KIAA1958 158405 genome.wustl.edu 37 9 115336810 115336810 + Missense_Mutation SNP G G T TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 9 115336810 115336810 G T SNP KIAA1958 ENST00000536272 human ensembl 70_37 +1 known missense c.450 p.E150D 1.000 NULL pfam_DUF3504,superfamily_Integrase_Lambda-type_N - no_errors KIAA1958 HGNC KIAA2018 205717 genome.wustl.edu 37 3 113379802 113379802 + Missense_Mutation SNP C C T TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 3 113379802 113379802 C T SNP KIAA2018 ENST00000316407 human ensembl 70_37 -1 known missense c.727 p.E243K 0.998 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors KIAA2018 HGNC LEPRE1 64175 genome.wustl.edu 37 1 43223463 43223464 + Frame_Shift_Ins INS - - C TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 1 43223463 43223464 - C INS LEPRE1 ENST00000236040 human ensembl 70_37 -1 known frame_shift_ins c.1071_1070 p.R359fs 0.023:0.020 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors LEPRE1 HGNC LRRTM1 347730 genome.wustl.edu 37 2 80529638 80529638 + Missense_Mutation SNP A A G TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 2 80529638 80529638 A G SNP LRRTM1 ENST00000295057 human ensembl 70_37 -1 known missense c.1307 p.I436T 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM1 HGNC MARK2 2011 genome.wustl.edu 37 11 63670179 63670179 + Silent SNP C C T TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 11 63670179 63670179 C T SNP MARK2 ENST00000402010 human ensembl 70_37 +1 known silent c.1341 p.A447 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase-assoc_KA1,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MARK2 HGNC MUC16 94025 genome.wustl.edu 37 19 9076980 9076980 + Missense_Mutation SNP G G A TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 19 9076980 9076980 G A SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.10466 p.T3489I 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC MUC17 140453 genome.wustl.edu 37 7 100675495 100675495 + Silent SNP A A G TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 7 100675495 100675495 A G SNP MUC17 ENST00000306151 human ensembl 70_37 +1 known silent c.798 p.S266 0.003 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC MYO7B 4648 genome.wustl.edu 37 2 128324316 128324316 + Silent SNP C C T TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 2 128324316 128324316 C T SNP MYO7B ENST00000389524 human ensembl 70_37 +1 known silent c.384 p.G128 0.039 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7B HGNC NFS1 9054 genome.wustl.edu 37 20 34263075 34263075 + Silent SNP G G A TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 20 34263075 34263075 G A SNP NFS1 ENST00000374092 human ensembl 70_37 -1 known silent c.840 p.A280 1.000 pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Cysteine_dSase_NifS,tigrfam_Cys_deSase pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,pfam_DegT/StrS_aminotransferase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Cysteine_dSase_NifS,tigrfam_Cys_deSase - no_errors NFS1 HGNC NGF 4803 genome.wustl.edu 37 1 115829246 115829246 + Silent SNP C C T TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 1 115829246 115829246 C T SNP NGF ENST00000369512 human ensembl 70_37 -1 known silent c.171 p.A57 0.000 pirsf_Nerve_growth_factor-like pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pirsf_Nerve_growth_factor-like,prints_Nerve_growth_factor-rel,prints_Nerve_growth_factor_bsu_mml,prints_Nerve_growth_factor_bsu,pfscan_Nerve_growth_factor-rel - no_errors NGF HGNC OSBPL8 114882 genome.wustl.edu 37 12 76778126 76778126 + Missense_Mutation SNP G G A TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 12 76778126 76778126 G A SNP OSBPL8 ENST00000261183 human ensembl 70_37 -1 known missense c.1538 p.S513F 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL8 HGNC PCDHB12 56124 genome.wustl.edu 37 5 140590433 140590433 + Missense_Mutation SNP C C T TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 5 140590433 140590433 C T SNP PCDHB12 ENST00000239450 human ensembl 70_37 +1 known missense c.1954 p.R652C 0.879 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 PCDHB12 HGNC PLIN4 729359 genome.wustl.edu 37 19 4511413 4511413 + Silent SNP C C T TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 19 4511413 4511413 C T SNP PLIN4 ENST00000301286 human ensembl 70_37 -1 novel silent c.2517 p.T839 0.005 NULL pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom - no_errors PLIN4 HGNC PML 5371 genome.wustl.edu 37 15 74315539 74315539 + Missense_Mutation SNP C C T TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 15 74315539 74315539 C T SNP PML ENST00000268058 human ensembl 70_37 +1 known missense c.973 p.R325C 1.000 pfam_DUF3583 pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors PML HGNC POLR2J4 84820 genome.wustl.edu 37 7 44009379 44009379 + RNA SNP C C T TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 7 44009379 44009379 C T SNP POLR2J4 ENST00000427076 human ensembl 70_37 -1 known rna NULL NULL 0.299 - - - no_errors POLR2J4 HGNC RASGEF1A 221002 genome.wustl.edu 37 10 43692548 43692548 + Splice_Site SNP C C T TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 10 43692548 43692548 C T SNP RASGEF1A ENST00000395809 human ensembl 70_37 -1 known splice_site c.1225-1 e10-1 1.000 - - - no_errors RASGEF1A HGNC RNF123 63891 genome.wustl.edu 37 3 49758728 49758728 + Nonsense_Mutation SNP C C A TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 3 49758728 49758728 C A SNP RNF123 ENST00000327697 human ensembl 70_37 +1 known nonsense c.3935 p.S1312* 0.997 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING - no_errors RNF123 HGNC RRBP1 6238 genome.wustl.edu 37 20 17596583 17596583 + Silent SNP G G A TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 20 17596583 17596583 G A SNP RRBP1 ENST00000246043 human ensembl 70_37 -1 known silent c.3939 p.A1313 0.000 NULL pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom - no_errors RRBP1 HGNC RUSC2 9853 genome.wustl.edu 37 9 35560823 35560823 + Nonsense_Mutation SNP C C T TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 9 35560823 35560823 C T SNP RUSC2 ENST00000361226 human ensembl 70_37 +1 known nonsense c.4186 p.Q1396* 0.068 NULL pfam_Run,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC2 HGNC SEMA6A 57556 genome.wustl.edu 37 5 115783191 115783192 + Frame_Shift_Ins INS - - T TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 5 115783191 115783192 - T INS SEMA6A ENST00000257414 human ensembl 70_37 -1 known frame_shift_ins c.2262_2261 p.N754fs 0.997:0.990 NULL pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag - no_errors SEMA6A HGNC SLC10A7 84068 genome.wustl.edu 37 4 147247123 147247123 + Frame_Shift_Del DEL A A - TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 4 147247123 147247123 A - DEL SLC10A7 ENST00000394062 human ensembl 70_37 -1 known frame_shift_del c.461 p.L154fs 1.000 pfam_BilAc/Na_symport,pirsf_Put_Na-Bile_cotransptr pfam_BilAc/Na_symport,pirsf_Put_Na-Bile_cotransptr - no_errors SLC10A7 HGNC SMARCAD1 56916 genome.wustl.edu 37 4 95155109 95155109 + Missense_Mutation SNP G G A TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 4 95155109 95155109 G A SNP SMARCAD1 ENST00000359052 human ensembl 70_37 +1 known missense c.373 p.E125K 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_UBA-like,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_CUE,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCAD1 HGNC SMARCC2 6601 genome.wustl.edu 37 12 56575341 56575341 + Missense_Mutation SNP C C A TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 12 56575341 56575341 C A SNP SMARCC2 ENST00000267064 human ensembl 70_37 -1 known missense c.881 p.G294V 1.000 superfamily_Chromodomain-like pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC2 HGNC SRCAP 10847 genome.wustl.edu 37 16 30748554 30748554 + Missense_Mutation SNP G G A TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 16 30748554 30748554 G A SNP SRCAP ENST00000262518 human ensembl 70_37 +1 known missense c.7193 p.R2398H 1.000 NULL pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC STX6 10228 genome.wustl.edu 37 1 180974431 180974431 + Missense_Mutation SNP G G C TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 1 180974431 180974431 G C SNP STX6 ENST00000258301 human ensembl 70_37 -1 known missense c.204 p.I68M 1.000 pfam_Syntaxin-6_N,superfamily_t-SNARE pfam_Syntaxin-6_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX6 HGNC SULT4A1 25830 genome.wustl.edu 37 22 44234843 44234843 + Silent SNP G G A TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 22 44234843 44234843 G A SNP SULT4A1 ENST00000330884 human ensembl 70_37 -1 known silent c.412 p.L138 1.000 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors SULT4A1 HGNC SUSD4 55061 genome.wustl.edu 37 1 223396682 223396682 + Silent SNP C C T TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 1 223396682 223396682 C T SNP SUSD4 ENST00000343846 human ensembl 70_37 -1 known silent c.1353 p.E451 0.037 NULL pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors SUSD4 HGNC TENM2 57451 genome.wustl.edu 37 5 167645602 167645602 + Missense_Mutation SNP C C T TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 5 167645602 167645602 C T SNP TENM2 ENST00000518659 human ensembl 70_37 +1 known missense c.4706 p.A1569V 1.000 superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC TG 7038 genome.wustl.edu 37 8 134108511 134108511 + Missense_Mutation SNP G G A TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 8 134108511 134108511 G A SNP TG ENST00000220616 human ensembl 70_37 +1 known missense c.7466 p.R2489H 0.001 pfam_CarbesteraseB,pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC TGOLN2 10618 genome.wustl.edu 37 2 85554084 85554084 + Silent SNP A A C TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 2 85554084 85554084 A C SNP TGOLN2 ENST00000377386 human ensembl 70_37 -1 known silent c.771 p.P257 0.001 NULL NULL - no_errors TGOLN2 HGNC TICRR 90381 genome.wustl.edu 37 15 90162963 90162963 + Missense_Mutation SNP G G A TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 15 90162963 90162963 G A SNP TICRR ENST00000268138 human ensembl 70_37 +1 known missense c.3044 p.R1015Q 1.000 NULL NULL - no_errors TICRR HGNC TRPV6 55503 genome.wustl.edu 37 7 142569581 142569581 + Missense_Mutation SNP C C T TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 7 142569581 142569581 C T SNP TRPV6 ENST00000359396 human ensembl 70_37 -1 known missense c.2057 p.R686Q 0.995 tigrfam_TRP_channel pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6_channel,prints_TRPV6_channel,prints_Ankyrin_rpt,tigrfam_TRP_channel - no_errors TRPV6 HGNC TTN 7273 genome.wustl.edu 37 2 179483051 179483051 + Missense_Mutation SNP C C T TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 2 179483051 179483051 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.39430 p.E13144K 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTPA 7274 genome.wustl.edu 37 8 63976819 63976819 + Silent SNP G G A TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 8 63976819 63976819 G A SNP TTPA ENST00000260116 human ensembl 70_37 -1 known silent c.609 p.F203 1.000 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran - no_errors TTPA HGNC ZIC3 7547 genome.wustl.edu 37 X 136649872 136649872 + Missense_Mutation SNP G G A TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 X 136649872 136649872 G A SNP ZIC3 ENST00000287538 human ensembl 70_37 +1 known missense c.1022 p.R341H 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC3 HGNC ZSCAN5B 342933 genome.wustl.edu 37 19 56701805 56701805 + Silent SNP C C G TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 19 56701805 56701805 C G SNP ZSCAN5B ENST00000358992 human ensembl 70_37 -1 known silent c.879 p.L293 0.003 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN5B HGNC ZSCAN5B 342933 genome.wustl.edu 37 19 56703294 56703294 + Missense_Mutation SNP C C G TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90369746-5572-4f29-9852-1663cbc0179d d260e788-4165-4610-a331-06e6cd6e0374 19 56703294 56703294 C G SNP ZSCAN5B ENST00000358992 human ensembl 70_37 -1 known missense c.513 p.Q171H 0.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN5B HGNC