#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
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	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ENSG_ID	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ens_Gene	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GMAF	i_HGNC	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_Normal_Alt_Count	i_Normal_Ref_Count	i_Normal_VAF	i_ORegAnno_bin	i_PurityEst	i_RNA_Tum_Ref_count	i_RNA_Tum_VAF	i_RNA_Tum_Var_count	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Tier	i_Tumor_Alt_Count	i_Tumor_Ref_Count	i_Tumor_VAF	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_WGS_Norm_Ref_count	i_WGS_Norm_VAF	i_WGS_Norm_Var_count	i_WGS_Tum_Ref_count	i_WGS_Tum_VAF	i_WGS_Tum_Var_count	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_rs_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
PGS1	9489	genome.wustl.edu	37	17	76420060	76420060	+	Intron	SNP	G	G	A			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr17:76420060G>A	ENST00000262764.6	+	10	1707				DNAH17_ENST00000389840.5_Missense_Mutation_p.T4462I|PGS1_ENST00000329897.7_Intron|PGS1_ENST00000588281.1_Intron|DNAH17_ENST00000585328.1_Missense_Mutation_p.T4434I|DNAH17_ENST00000586052.1_5'UTR|AC061992.1_ENST00000600087.1_5'Flank	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1						cardiolipin biosynthetic process (GO:0032049)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity (GO:0008444)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			CAAGTTAAAGGTCCAGACATA	0.552																																					Esophageal Squamous(45;182 1126 10685 43198)												0								ENSG00000187775						142.0	137.0	138.0					17																	76420060		2203	4300	6503	DNAH17	SO:0001627	intron_variant	0			-	HGNC		CCDS42391.1	17q25.3	2006-02-09							30029	protein-coding gene	gene with protein product		614942				9880566	Standard	XR_243691		Approved	DKFZP762M186	uc002jvm.3	Q32NB8		ENST00000262764.6:c.1669-82G>A	17.37:g.76420060G>A		Somatic	0	35	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	31	18.42	B7ZA32|Q8IYK9|Q8TA85|Q96A75|Q9H7G9|Q9NPW7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd	p.T4462I	ENST00000262764.6	37	c.13385	CCDS42391.1	17	.	.	.	.	.	.	.	.	.	.	G	29.5	5.013048	0.93346	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.09723	2.95	5.23	5.23	0.72850	.	0.000000	0.64402	D	0.000016	T	0.43456	0.1248	M	0.92691	3.335	0.53005	D	0.999969	D	0.57257	0.979	D	0.64877	0.93	T	0.55528	-0.8127	10	0.87932	D	0	.	19.0107	0.92871	0.0:0.0:1.0:0.0	.	4434	E7EUM8	.	I	4434;4462	ENSP00000374490:T4462I	ENSP00000300671:T4434I	T	-	2	0	DNAH17	73931655	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.050000	0.93843	2.713000	0.92767	0.655000	0.94253	ACC	-	pfam_Dynein_heavy_dom		0.552	PGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH17	protein_coding	OTTHUMT00000437301.1	G	NM_024419	-		76420060	-1	no_errors	ENST00000389840	ensembl	human	known	74_37	missense	SNP	1.000	A
CALU	813	genome.wustl.edu	37	7	128394753	128394753	+	Intron	SNP	A	A	T			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr7:128394753A>T	ENST00000249364.4	+	3	517				CALU_ENST00000538546.1_Intron|CALU_ENST00000535011.2_Intron|CALU_ENST00000449187.2_Missense_Mutation_p.N131I|CALU_ENST00000542996.2_Missense_Mutation_p.N139I|CALU_ENST00000535623.1_3'UTR|CALU_ENST00000479257.1_Intron	NM_001219.4	NP_001210.1	O43852	CALU_HUMAN	calumenin						blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)			kidney(2)|large_intestine(3)|lung(5)	10						GAGTACAGAAACGTGACTTAT	0.448																																																	0								ENSG00000128595						72.0	65.0	67.0					7																	128394753		692	1591	2283	CALU	SO:0001627	intron_variant	0			-	HGNC	AF013759	CCDS5805.1, CCDS47703.1, CCDS56506.1, CCDS56507.1, CCDS56508.1	7q32	2013-01-10			ENSG00000128595	ENSG00000128595		"""EF-hand domain containing"""	1458	protein-coding gene	gene with protein product		603420				9598325	Standard	NM_001219		Approved		uc003vnq.3	O43852	OTTHUMG00000158274	ENST00000249364.4:c.415+244A>T	7.37:g.128394753A>T		Somatic	0	57	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	34	22.73	B3KPG9|D6QS48|D6QS49|D6QS50|D6QS51|D6QS52|D6QS53|D6QS54|D6QS55|D6QS56|D6QS57|D6QS58|D6QS59|F5H1Q9|F5H879|O60456|Q6FHB9|Q96RL3|Q9NR43	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	smart_EF_hand_dom,pfscan_EF_hand_dom	p.N139I	ENST00000249364.4	37	c.416	CCDS5805.1	7	.	.	.	.	.	.	.	.	.	.	A	15.87	2.961944	0.53400	.	.	ENSG00000128595	ENST00000542996;ENST00000537667;ENST00000537014;ENST00000449187	T;T	0.71698	-0.59;-0.59	6.03	4.86	0.63082	.	.	.	.	.	T	0.80839	0.4700	M	0.76727	2.345	0.80722	D	1	D	0.61697	0.99	D	0.65773	0.938	T	0.79376	-0.1829	9	0.36615	T	0.2	.	10.9579	0.47368	0.86:0.0:0.0:0.14	.	139	D6QS48	.	I	139;131;131;131	ENSP00000438248:N139I;ENSP00000408838:N131I	ENSP00000408838:N131I	N	+	2	0	CALU	128181989	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.380000	0.79704	1.082000	0.41137	-0.327000	0.08410	AAC	-	smart_EF_hand_dom,pfscan_EF_hand_dom		0.448	CALU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALU	protein_coding	OTTHUMT00000350533.1	A	NM_001219	-		128394753	+1	no_errors	ENST00000542996	ensembl	human	known	74_37	missense	SNP	1.000	T
SPEG	10290	genome.wustl.edu	37	2	220350080	220350080	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr2:220350080G>A	ENST00000312358.7	+	31	7754	c.7622G>A	c.(7621-7623)aGc>aAc	p.S2541N	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2541					cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCAGGGGAAAGCCGAAGCCGG	0.612																																																	0								ENSG00000072195						55.0	65.0	62.0					2																	220350080		1932	4124	6056	SPEG	SO:0001583	missense	0			-	HGNC	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.7622G>A	2.37:g.220350080G>A	ENSP00000311684:p.Ser2541Asn	Somatic	0	102	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	65	148	30.37	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.S2541N	ENST00000312358.7	37	c.7622	CCDS42824.1	2	.	.	.	.	.	.	.	.	.	.	G	18.03	3.532028	0.64972	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.63255	-0.03	5.79	5.79	0.91817	.	0.133025	0.34802	N	0.003673	T	0.38453	0.1041	N	0.08118	0	0.80722	D	1	P	0.35433	0.501	B	0.29785	0.107	T	0.37150	-0.9718	10	0.16896	T	0.51	.	14.2202	0.65820	0.0712:0.0:0.9288:0.0	.	2541	Q15772	SPEG_HUMAN	N	2541	ENSP00000311684:S2541N	ENSP00000265327:S2541N	S	+	2	0	SPEG	220058324	0.963000	0.33076	1.000000	0.80357	0.995000	0.86356	2.941000	0.49011	2.743000	0.94032	0.655000	0.94253	AGC	-	NULL		0.612	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEG	protein_coding	OTTHUMT00000130252.2	G	NM_005876	-		220350080	+1	no_errors	ENST00000312358	ensembl	human	novel	74_37	missense	SNP	1.000	A
CDC42EP1	11135	genome.wustl.edu	37	22	37964409	37964429	+	In_Frame_Del	DEL	CAGCGCCTGCTGCAAACCCCT	CAGCGCCTGCTGCAAACCCCT	-	rs13056859|rs13055845|rs77417880|rs62235033|rs62235034|rs187761157|rs66468174|rs200195385	byFrequency	TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	CAGCGCCTGCTGCAAACCCCT	CAGCGCCTGCTGCAAACCCCT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr22:37964409_37964429delCAGCGCCTGCTGCAAACCCCT	ENST00000249014.4	+	3	1178_1198	c.758_778delCAGCGCCTGCTGCAAACCCCT	c.(757-780)ccagcgcctgctgcaaacccctca>cca	p.APAANPS254del		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	254	8 X 7 AA tandem repeats of [PT]-[AT]-A- [ENT]-[PT]-[PTS]-[AG].				positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)		p.N258_A264delNPSAPAA(3)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					GCAAACCCCCCAGCGCCTGCTGCAAACCCCTCAGCACCTGC	0.665																																																	3	Deletion - In frame(3)	large_intestine(2)|haematopoietic_and_lymphoid_tissue(1)						ENSG00000128283			868,3338		98,672,1333						1.5	0.0		dbSNP_130	10	4310,3696		1298,1714,991	no	coding	CDC42EP1	NM_152243.2		1396,2386,2324	A1A1,A1R,RR		46.1654,20.6372,42.4009				5178,7034				CDC42EP1	SO:0001651	inframe_deletion	0				HGNC	M88338	CCDS13949.1	22q13.1	2008-06-11			ENSG00000128283	ENSG00000128283			17014	protein-coding gene	gene with protein product	"""55 kDa bone marrow stromal/endothelial cell protein"", ""serum constituent protein"""	606084				1629197, 10430899	Standard	NM_152243		Approved	MSE55, CEP1, Borg5	uc003asz.4	Q00587	OTTHUMG00000150591	ENST00000249014.4:c.758_778delCAGCGCCTGCTGCAAACCCCT	22.37:g.37964409_37964429delCAGCGCCTGCTGCAAACCCCT	ENSP00000249014:p.Ala254_Ser260del	Somatic	NA	NA	NA		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	A8K825|Q96GN1	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_CRIB_dom,smart_CRIB_dom,pfscan_CRIB_dom	p.ANPSAPA257in_frame_del	ENST00000249014.4	37	c.758_778	CCDS13949.1	22																																																																																			-	NULL		0.665	CDC42EP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42EP1	protein_coding	OTTHUMT00000318993.1	CAGCGCCTGCTGCAAACCCCT	NM_152243			37964429	+1	no_errors	ENST00000249014	ensembl	human	known	74_37	in_frame_del	DEL	0.003:0.000:0.000:0.000:0.000:0.019:0.024:0.016:0.013:0.013:0.000:0.000:0.000:0.001:0.000:0.001:0.004:0.011:0.056:0.092:0.133	-
HTR1A	3350	genome.wustl.edu	37	5	63257295	63257295	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr5:63257295C>A	ENST00000323865.3	-	1	485	c.252G>T	c.(250-252)atG>atT	p.M84I	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	84					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	ACACCGACACCATGAGGTCGG	0.607																																																	0								ENSG00000178394						44.0	48.0	47.0					5																	63257295		2203	4300	6503	HTR1A	SO:0001583	missense	0			-	HGNC	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.252G>T	5.37:g.63257295C>A	ENSP00000316244:p.Met84Ile	Somatic	0	20	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	7	46.15	Q6LAE7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,prints_NPY_rcpt	p.M84I	ENST00000323865.3	37	c.252	CCDS34168.1	5	.	.	.	.	.	.	.	.	.	.	C	20.9	4.064830	0.76187	.	.	ENSG00000178394	ENST00000323865	T	0.35605	1.3	4.71	4.71	0.59529	GPCR, rhodopsin-like superfamily (1);	0.044538	0.85682	U	0.000000	T	0.39064	0.1064	L	0.52364	1.645	0.80722	D	1	P	0.41498	0.752	B	0.41764	0.366	T	0.42275	-0.9461	10	0.72032	D	0.01	.	16.6418	0.85128	0.0:1.0:0.0:0.0	.	84	P08908	5HT1A_HUMAN	I	84	ENSP00000316244:M84I	ENSP00000316244:M84I	M	-	3	0	HTR1A	63293051	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.353000	0.52247	2.170000	0.68504	0.561000	0.74099	ATG	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.607	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1A	protein_coding	OTTHUMT00000368397.1	C	NM_000524	-		63257295	-1	no_errors	ENST00000323865	ensembl	human	known	74_37	missense	SNP	1.000	A
KIF18B	146909	genome.wustl.edu	37	17	43013433	43013433	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr17:43013433G>T	ENST00000593135.1	-	2	377	c.280C>A	c.(280-282)Ctg>Atg	p.L94M	KIF18B_ENST00000339151.4_Missense_Mutation_p.L94M|KIF18B_ENST00000590129.1_Missense_Mutation_p.L103M|KIF18B_ENST00000438933.2_Missense_Mutation_p.L94M|KIF18B_ENST00000587309.1_Missense_Mutation_p.L94M	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B	103	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|regulation of cell division (GO:0051302)	astral microtubule (GO:0000235)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule plus-end (GO:0035371)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				AAGCTGTCCAGGACGCTGTGC	0.607																																																	0								ENSG00000186185						51.0	58.0	56.0					17																	43013433		2177	4270	6447	KIF18B	SO:0001583	missense	0			-	HGNC		CCDS45709.1, CCDS58555.1, CCDS45709.2	17q21.31	2014-09-04			ENSG00000186185			"""Kinesins"""	27102	protein-coding gene	gene with protein product		614570				16084724	Standard	NM_001264573		Approved		uc010wjh.3	Q86Y91	OTTHUMG00000179867	ENST00000593135.1:c.280C>A	17.37:g.43013433G>T	ENSP00000465992:p.Leu94Met	Somatic	0	48	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	A6NJI2|B7ZM49|B9EGM8|D5L6I1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L94M	ENST00000593135.1	37	c.280	CCDS45709.2	17	.	.	.	.	.	.	.	.	.	.	G	13.52	2.260500	0.39995	.	.	ENSG00000186185	ENST00000438933;ENST00000339151;ENST00000376982	T;T	0.74842	-0.88;-0.88	5.25	5.25	0.73442	Kinesin, motor domain (4);	0.000000	0.29551	N	0.011838	D	0.88269	0.6391	M	0.91196	3.185	0.37259	D	0.906881	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.81914	0.995;0.995;0.991	D	0.91737	0.5401	10	0.72032	D	0.01	.	13.563	0.61802	0.0775:0.0:0.9225:0.0	.	103;103;103	Q86Y91;Q86Y91-3;Q86Y91-2	KI18B_HUMAN;.;.	M	94	ENSP00000412798:L94M;ENSP00000341466:L94M	ENSP00000341466:L94M	L	-	1	2	KIF18B	40368959	1.000000	0.71417	1.000000	0.80357	0.062000	0.15995	1.713000	0.37951	2.630000	0.89119	0.555000	0.69702	CTG	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.607	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	KIF18B	protein_coding	OTTHUMT00000448724.1	G	NM_001080443	-		43013433	-1	no_errors	ENST00000339151	ensembl	human	known	74_37	missense	SNP	1.000	T
SHPRH	257218	genome.wustl.edu	37	6	146264415	146264415	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr6:146264415A>G	ENST00000367505.2	-	9	2366	c.2102T>C	c.(2101-2103)tTt>tCt	p.F701S	SHPRH_ENST00000438092.2_Missense_Mutation_p.F701S|SHPRH_ENST00000367503.3_Missense_Mutation_p.F701S|SHPRH_ENST00000275233.7_Missense_Mutation_p.F701S			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	701					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		GGGGCAGTAAAAAGGCTTGAT	0.458																																																	0								ENSG00000146414						71.0	73.0	72.0					6																	146264415		1954	4150	6104	SHPRH	SO:0001583	missense	0			-	HGNC	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.2102T>C	6.37:g.146264415A>G	ENSP00000356475:p.Phe701Ser	Somatic	0	25	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	14	44.00	Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_SNF2_N,pfam_Histone_H1/H5_H15,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,superfamily_WW_dom,smart_Helicase_ATP-bd,smart_Histone_H1/H5_H15,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C	p.F701S	ENST00000367505.2	37	c.2102	CCDS43513.2	6	.	.	.	.	.	.	.	.	.	.	A	27.2	4.806833	0.90623	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233;ENST00000444767	T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39	5.36	5.36	0.76844	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);DEAD-like helicase (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.79981	0.4540	M	0.83483	2.645	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.999	D	0.83551	0.0101	10	0.72032	D	0.01	-26.1917	15.6522	0.77108	1.0:0.0:0.0:0.0	.	590;701;701;590	Q149N8-2;Q149N8;Q149N8-4;F8WEL0	.;SHPRH_HUMAN;.;.	S	701;701;701;701;590	ENSP00000356475:F701S;ENSP00000356473:F701S;ENSP00000412797:F701S;ENSP00000275233:F701S	ENSP00000275233:F701S	F	-	2	0	SHPRH	146306108	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.255000	0.95524	2.167000	0.68274	0.528000	0.53228	TTT	-	superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Znf_PHD		0.458	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SHPRH	protein_coding	OTTHUMT00000042571.2	A	NM_173082	-		146264415	-1	no_errors	ENST00000367503	ensembl	human	known	74_37	missense	SNP	1.000	G
ZNF141	7700	genome.wustl.edu	37	4	367650	367650	+	Silent	SNP	G	G	A			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr4:367650G>A	ENST00000240499.7	+	4	1573	c.1424G>A	c.(1423-1425)tGa>tAa	p.*475*	ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	0					anatomical structure morphogenesis (GO:0009653)|limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						ATTCATACTTGAGAGAAATCC	0.323																																																	0								ENSG00000131127						48.0	53.0	51.0					4																	367650		2185	4284	6469	ZNF141	SO:0001819	synonymous_variant	0			-	HGNC	L15309	CCDS33931.1	4p16.3	2013-01-08	2006-06-13			ENSG00000131127		"""Zinc fingers, C2H2-type"", ""-"""	12926	protein-coding gene	gene with protein product		194648	"""zinc finger protein 141 (clone pHZ-44)"""	D4S90		8268908	Standard	NM_003441		Approved	pHZ-44	uc003gaa.2	Q15928		ENST00000240499.7:c.1424G>A	4.37:g.367650G>A		Somatic	0	65	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	70	12.50	Q6DK07	Silent	SNP	NA	NA	NA	NA	NA	NA	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	p.*475	ENST00000240499.7	37	c.1424	CCDS33931.1	4																																																																																			-	NULL		0.323	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF141	protein_coding	OTTHUMT00000357710.1	G	NM_003441	-		367650	+1	no_errors	ENST00000240499	ensembl	human	known	74_37	silent	SNP	0.173	A
ICA1	3382	genome.wustl.edu	37	7	8196567	8196585	+	Intron	DEL	AAAAAAAAAAAAAAAAAAG	AAAAAAAAAAAAAAAAAAG	-	rs544087808|rs147272214|rs73674890|rs73674888|rs73674889|rs556173262|rs398003586|rs139248933|rs77253977|rs201360539|rs200840693|rs80159917|rs71014766|rs138383936	byFrequency	TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	AAAAAAAAAAAAAAAAAAG	AAAAAAAAAAAAAAAAAAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr7:8196567_8196585delAAAAAAAAAAAAAAAAAAG	ENST00000402384.3	-	8	1071				ICA1_ENST00000265577.7_Intron|ICA1_ENST00000407906.1_Frame_Shift_Del_p.SFFFFFF322fs|ICA1_ENST00000422063.2_Intron|ICA1_ENST00000401396.1_Intron|AC007009.2_ENST00000577980.1_RNA|ICA1_ENST00000406470.2_Intron|ICA1_ENST00000396675.3_Intron			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa						neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|secretory granule membrane (GO:0030667)|synaptic vesicle membrane (GO:0030672)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		AGTaaaaaaaaaaaaaaaaaaaaaaaaagaaagaaagaa	0.37																																																	0								ENSG00000003147																																			ICA1	SO:0001627	intron_variant	0				HGNC		CCDS34602.1, CCDS64595.1	7p22	2006-12-13	2002-08-29		ENSG00000003147	ENSG00000003147			5343	protein-coding gene	gene with protein product		147625	"""islet cell autoantigen 1 (69kD)"""			7918678, 8777998	Standard	NM_001276478		Approved	ICAp69	uc003srm.3	Q05084	OTTHUMG00000152008	ENST00000402384.3:c.804+160CTTTTTTTTTTTTTTTTTT>-	7.37:g.8196567_8196585delAAAAAAAAAAAAAAAAAAG		Somatic	NA	NA	NA		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	A8K7U1|B3FTQ2|P78506|Q13824|Q96HG3	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_AH_dom,pfscan_AH_dom	p.S322fs	ENST00000402384.3	37	c.983_965	CCDS34602.1	7																																																																																			-	NULL		0.370	ICA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ICA1	protein_coding	OTTHUMT00000324793.1	AAAAAAAAAAAAAAAAAAG	NM_004968			8196585	-1	no_errors	ENST00000407906	ensembl	human	putative	74_37	frame_shift_del	DEL	0.008:0.013:0.018:0.022:0.026:0.029:0.033:0.021:0.016:0.011:0.005:0.002:0.000:0.000:0.000:0.001:0.001:0.001:0.001	-
ADCY7	113	genome.wustl.edu	37	16	50332919	50332919	+	Silent	SNP	G	G	T			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr16:50332919G>T	ENST00000394697.2	+	8	1393	c.1053G>T	c.(1051-1053)ggG>ggT	p.G351G	ADCY7_ENST00000538642.1_Silent_p.G351G|ADCY7_ENST00000254235.3_Silent_p.G351G|ADCY7_ENST00000564044.1_3'UTR|ADCY7_ENST00000537579.1_Silent_p.G351G|ADCY7_ENST00000566433.2_Silent_p.G351G			P51828	ADCY7_HUMAN	adenylate cyclase 7	351	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to ethanol (GO:0071361)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		TGAAGATGGGGCTGGACATGT	0.637																																																	0								ENSG00000121281						71.0	55.0	60.0					16																	50332919		2198	4300	6498	ADCY7	SO:0001819	synonymous_variant	0			-	HGNC	D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"""Adenylate cyclases"""	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.1053G>T	16.37:g.50332919G>T		Somatic	0	25	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	A0AVA6	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.G351	ENST00000394697.2	37	c.1053	CCDS10741.1	16																																																																																			-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase		0.637	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY7	protein_coding	OTTHUMT00000256877.3	G		-		50332919	+1	no_errors	ENST00000254235	ensembl	human	known	74_37	silent	SNP	0.958	T
SGTB	54557	genome.wustl.edu	37	5	64981292	64981292	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr5:64981292C>T	ENST00000381007.4	-	6	617	c.382G>A	c.(382-384)Gct>Act	p.A128T		NM_019072.2	NP_061945.1	Q96EQ0	SGTB_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta	128										large_intestine(3)|lung(3)|skin(3)	9		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)		TTGCTCTGAGCAGCAGCCCTA	0.368																																																	0								ENSG00000197860						134.0	123.0	126.0					5																	64981292		2203	4300	6503	SGTB	SO:0001583	missense	0			-	HGNC	AK096321	CCDS3988.1	5q12.3	2013-01-10			ENSG00000197860	ENSG00000197860		"""Tetratricopeptide (TTC) repeat domain containing"""	23567	protein-coding gene	gene with protein product						12477932	Standard	XM_005248548		Approved	Sgt2, FLJ39002	uc003jud.3	Q96EQ0	OTTHUMG00000097801	ENST00000381007.4:c.382G>A	5.37:g.64981292C>T	ENSP00000370395:p.Ala128Thr	Somatic	0	41	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.A128T	ENST00000381007.4	37	c.382	CCDS3988.1	5	.	.	.	.	.	.	.	.	.	.	C	35	5.432255	0.96150	.	.	ENSG00000197860	ENST00000381007;ENST00000506816	T;T	0.64618	-0.11;-0.11	5.35	5.35	0.76521	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.77850	0.4192	M	0.62088	1.915	0.80722	D	1	D	0.76494	0.999	D	0.71870	0.975	T	0.79424	-0.1809	10	0.87932	D	0	-7.5053	19.4332	0.94779	0.0:1.0:0.0:0.0	.	128	Q96EQ0	SGTB_HUMAN	T	128	ENSP00000370395:A128T;ENSP00000421447:A128T	ENSP00000370395:A128T	A	-	1	0	SGTB	65017048	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.433000	0.80362	2.659000	0.90383	0.655000	0.94253	GCT	-	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR-contain_dom		0.368	SGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGTB	protein_coding	OTTHUMT00000215057.2	C	NM_019072	-		64981292	-1	no_errors	ENST00000381007	ensembl	human	known	74_37	missense	SNP	1.000	T
DOCK3	1795	genome.wustl.edu	37	3	51297624	51297624	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr3:51297624G>A	ENST00000266037.9	+	23	2245	c.2222G>A	c.(2221-2223)cGg>cAg	p.R741Q		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	741					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GTACAGTCACGGATCCTGTAC	0.458																																																	0								ENSG00000088538						88.0	88.0	88.0					3																	51297624		1933	4141	6074	DOCK3	SO:0001583	missense	0			-	HGNC	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.2222G>A	3.37:g.51297624G>A	ENSP00000266037:p.Arg741Gln	Somatic	0	49	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	14	39.13	O15017	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.R741Q	ENST00000266037.9	37	c.2222	CCDS46835.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.917465	0.97105	.	.	ENSG00000088538	ENST00000266037	T	0.67523	-0.27	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.85856	0.5794	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87276	0.2289	10	0.87932	D	0	.	20.3368	0.98748	0.0:0.0:1.0:0.0	.	741	Q8IZD9	DOCK3_HUMAN	Q	741	ENSP00000266037:R741Q	ENSP00000266037:R741Q	R	+	2	0	DOCK3	51272664	1.000000	0.71417	0.989000	0.46669	0.995000	0.86356	9.869000	0.99810	2.805000	0.96524	0.655000	0.94253	CGG	-	superfamily_ARM-type_fold		0.458	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	protein_coding	OTTHUMT00000346478.5	G	NM_004947	-		51297624	+1	no_errors	ENST00000266037	ensembl	human	known	74_37	missense	SNP	1.000	A
NLRP1	22861	genome.wustl.edu	37	17	5405116	5405116	+	3'UTR	SNP	G	G	A			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr17:5405116G>A	ENST00000262467.5	-	0	4719					NM_001033053.2	NP_001028225.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CATTGGTACTGCCGCAGGCTG	0.567																																																	0								ENSG00000091592						102.0	87.0	92.0					17																	5405116		2203	4300	6503	NLRP1	SO:0001624	3_prime_UTR_variant	0			-	HGNC	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000262467.5:c.*18C>T	17.37:g.5405116G>A		Somatic	0	30	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000262467.5	37	NULL	CCDS32537.1	17																																																																																			-	-		0.567	NLRP1-001	KNOWN	basic|CCDS	protein_coding	NLRP1	protein_coding	OTTHUMT00000439513.1	G	NM_033004	-		5405116	-1	no_errors	ENST00000574406	ensembl	human	known	74_37	rna	SNP	0.000	A
DCAF15	90379	genome.wustl.edu	37	19	14070706	14070707	+	Splice_Site	INS	-	-	GGTGGGCCCAGGGCGGGCAG	rs3217681|rs141180609|rs373011773	byFrequency	TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr19:14070706_14070707insGGTGGGCCCAGGGCGGGCAG	ENST00000254337.6	+	9	1460_1461	c.1439_1440insGGTGGGCCCAGGGCGGGCAG	c.(1438-1443)gaggtc>gaGGTGGGCCCAGGGCGGGCAGggtc	p.-481fs		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15						protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						GTCATTCTGGAGGTGGGCCCAG	0.589											OREG0025301	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		1524	0.304313	0.2731	0.2277	5008	,	,		14914	0.3294		0.2843	False		,,,				2504	0.3957																0								ENSG00000132017																																			DCAF15	SO:0001630	splice_region_variant	0				HGNC	BC002926	CCDS32926.1	19p13.12	2009-07-17	2009-07-17	2009-07-17	ENSG00000132017	ENSG00000132017		"""DDB1 and CUL4 associated factors"""	25095	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 72"""	C19orf72			Standard	NM_138353		Approved	MGC99481	uc002mxt.3	Q66K64		ENST00000254337.6:c.1440+1->GGTGGGCCCAGGGCGGGCAG	19.37:g.14070706_14070707insGGTGGGCCCAGGGCGGGCAG		Somatic	NA	NA	NA	692	0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	B3KS86|Q96DW0|Q9BU31	Frame_Shift_Ins	INS	NA	NA	NA	NA	NA	NA	NULL	p.C482fs	ENST00000254337.6	37	c.1439_1440	CCDS32926.1	19																																																																																			-	NULL		0.589	DCAF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF15	protein_coding	OTTHUMT00000458099.1	-	NM_138353		Frame_Shift_Ins	14070707	+1	no_errors	ENST00000254337	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	GGTGGGCCCAGGGCGGGCAG
ATP6V1C2	245973	genome.wustl.edu	37	2	10917819	10917820	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	AG	AG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr2:10917819_10917820delAG	ENST00000272238.4	+	11	1043_1044	c.934_935delAG	c.(934-936)agafs	p.R312fs	ATP6V1C2_ENST00000381661.3_Intron	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	312					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of Wnt signaling pathway (GO:0030177)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|protein dimerization activity (GO:0046983)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		GCAGACCGACAGAGAGAGAGAG	0.604																																					NSCLC(188;1042 2136 10807 16813 47705)												0								ENSG00000143882																																			ATP6V1C2	SO:0001589	frameshift_variant	0				HGNC	AY039759	CCDS1674.1, CCDS42653.1	2p25.1	2010-04-21	2006-01-13		ENSG00000143882	ENSG00000143882		"""ATPases / V-type"""	18264	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 42kD, V1 subunit C isoform 2"", ""ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C isoform 2"""			12384298	Standard	XR_426949		Approved	VMA5, ATP6C2	uc002ras.3	Q8NEY4	OTTHUMG00000090459	ENST00000272238.4:c.934_935delAG	2.37:g.10917829_10917830delAG	ENSP00000272238:p.Arg312fs	Somatic	0	13	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	8	20.00	Q96EL8	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_ATPase_V1-cplx_csu	p.E315fs	ENST00000272238.4	37	c.934_935	CCDS42653.1	2																																																																																			-	pfam_ATPase_V1-cplx_csu		0.604	ATP6V1C2-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	ATP6V1C2	protein_coding	OTTHUMT00000323555.1	AG	NM_144583			10917820	+1	no_errors	ENST00000272238	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000	-
ERICH3	127254	genome.wustl.edu	37	1	75097467	75097467	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr1:75097467G>C	ENST00000326665.5	-	7	967	c.749C>G	c.(748-750)tCt>tGt	p.S250C	C1orf173_ENST00000420661.2_Missense_Mutation_p.S53C	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		250								p.S250Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCATGTTTCAGATCTATTTTC	0.373																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000178965						189.0	171.0	177.0					1																	75097467		2203	4300	6503	C1orf173	SO:0001583	missense	0			-	HGNC																												ENST00000326665.5:c.749C>G	1.37:g.75097467G>C	ENSP00000322609:p.Ser250Cys	Somatic	0	35	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	30	43.40	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.S250C	ENST00000326665.5	37	c.749	CCDS30755.1	1	.	.	.	.	.	.	.	.	.	.	G	7.573	0.667156	0.14710	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.19394	2.61;2.15	5.39	1.88	0.25563	.	.	.	.	.	T	0.08758	0.0217	L	0.29908	0.895	0.09310	N	1	D;D	0.63046	0.984;0.992	P;P	0.53146	0.639;0.719	T	0.12192	-1.0557	9	0.56958	D	0.05	0.1152	1.6943	0.02859	0.3545:0.1324:0.3782:0.1349	.	53;250	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	C	250;53	ENSP00000322609:S250C;ENSP00000398581:S53C	ENSP00000322609:S250C	S	-	2	0	C1orf173	74870055	0.000000	0.05858	0.026000	0.17262	0.021000	0.10359	-0.021000	0.12504	0.592000	0.29728	0.650000	0.86243	TCT	-	NULL		0.373	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf173	protein_coding	OTTHUMT00000026516.1	G		-		75097467	-1	no_errors	ENST00000326665	ensembl	human	known	74_37	missense	SNP	0.000	C
GATA3-AS1	399717	genome.wustl.edu	37	10	8092608	8092619	+	lincRNA	DEL	CGCCCAGGCAGG	CGCCCAGGCAGG	-	rs115284275	byFrequency	TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	CGCCCAGGCAGG	CGCCCAGGCAGG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr10:8092608_8092619delCGCCCAGGCAGG	ENST00000418270.1	+	0	0				RP11-379F12.3_ENST00000458727.1_lincRNA|GATA3-AS1_ENST00000355358.1_lincRNA																							CGGCCGGGACCGCCCAGGCAGGCGCCGGGGCT	0.698																																																	0								ENSG00000197308																																			GATA3-AS1			0				HGNC																													10.37:g.8092608_8092619delCGCCCAGGCAGG		Somatic	NA	NA	NA		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA		RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000418270.1	37	NULL		10																																																																																			-	-		0.698	RP11-379F12.4-001	KNOWN	basic|exp_conf	lincRNA	GATA3-AS1	lincRNA	OTTHUMT00000046724.1	CGCCCAGGCAGG				8092619	-1	no_errors	ENST00000355358	ensembl	human	known	74_37	rna	DEL	1.000:1.000:1.000:1.000:0.999:0.994:0.994:0.999:0.999:0.999:1.000:1.000	-
MRPL12	6182	genome.wustl.edu	37	17	79674001	79674001	+	Silent	SNP	G	G	A	rs149365217		TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr17:79674001G>A	ENST00000333676.3	+	4	556	c.411G>A	c.(409-411)gcG>gcA	p.A137A	SLC25A10_ENST00000541223.1_Silent_p.A137A|SLC25A10_ENST00000571730.1_Silent_p.A137A	NM_002949.3	NP_002940.2	P52815	RM12_HUMAN	mitochondrial ribosomal protein L12	137					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from mitochondrial promoter (GO:0006390)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.A137A(1)		breast(1)|lung(2)|urinary_tract(1)	4	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			TGACCGAGGCGAAGCCCGTGG	0.567																																																	1	Substitution - coding silent(1)	breast(1)						ENSG00000183048	G		1,4405	2.1+/-5.4	0,1,2202	75.0	62.0	67.0		411	-9.6	0.0	17	dbSNP_134	67	0,8600		0,0,4300	no	coding-synonymous	MRPL12	NM_002949.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		137/199	79674001	1,13005	2203	4300	6503	SLC25A10	SO:0001819	synonymous_variant	0			-	HGNC	X79865	CCDS11785.1	17q25	2012-11-14			ENSG00000262814	ENSG00000262814		"""Mitochondrial ribosomal proteins / large subunits"""	10378	protein-coding gene	gene with protein product		602375		RPML12		8626705, 9169145	Standard	NM_002949		Approved	MRPL7/L12, MRPL7		P52815	OTTHUMG00000178171	ENST00000333676.3:c.411G>A	17.37:g.79674001G>A		Somatic	0	47	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	Q969U0|Q9HCA2|Q9UQJ3	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Mitochondrial_sb/sol_carrier,pfam_Ribosomal_L7/L12_C,superfamily_Mt_carrier_dom,superfamily_Ribosomal_L7/L12_oligo,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling	p.A137	ENST00000333676.3	37	c.411	CCDS11785.1	17																																																																																			-	pfam_Ribosomal_L7/L12_C,superfamily_Mt_carrier_dom		0.567	MRPL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A10	protein_coding	OTTHUMT00000440812.1	G	NM_002949	rs149365217		79674001	+1	no_errors	ENST00000541223	ensembl	human	known	74_37	silent	SNP	0.034	A
RYR3	6263	genome.wustl.edu	37	15	33858928	33858928	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr15:33858928G>T	ENST00000389232.4	+	12	1266	c.1196G>T	c.(1195-1197)aGa>aTa	p.R399I	RYR3_ENST00000415757.3_Missense_Mutation_p.R399I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	399	MIR 5. {ECO:0000255|PROSITE- ProRule:PRU00131}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACACTGCAGAGATGCCAGCGT	0.507																																																	0								ENSG00000198838						176.0	180.0	179.0					15																	33858928		2128	4235	6363	RYR3	SO:0001583	missense	0			-	HGNC		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.1196G>T	15.37:g.33858928G>T	ENSP00000373884:p.Arg399Ile	Somatic	0	45	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	15	65.91	O15175|Q15412	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,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_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.R399I	ENST00000389232.4	37	c.1196	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	G	21.8	4.205029	0.79127	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.91792	-2.91;-2.91	4.43	4.43	0.53597	MIR motif (1);MIR (1);	0.122081	0.52532	D	0.000066	D	0.93354	0.7881	M	0.80982	2.52	0.58432	D	0.999999	P;B	0.46220	0.874;0.049	P;B	0.45712	0.491;0.026	D	0.94542	0.7746	10	0.66056	D	0.02	.	17.1922	0.86882	0.0:0.0:1.0:0.0	.	399;399	Q15413-2;Q15413	.;RYR3_HUMAN	I	399	ENSP00000373884:R399I;ENSP00000399610:R399I	ENSP00000354735:R399I	R	+	2	0	RYR3	31646220	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.295000	0.78780	2.459000	0.83118	0.650000	0.86243	AGA	-	superfamily_MIR_motif		0.507	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	protein_coding	OTTHUMT00000417514.1	G		-		33858928	+1	no_errors	ENST00000389232	ensembl	human	known	74_37	missense	SNP	1.000	T
OR2T2	401992	genome.wustl.edu	37	1	248616711	248616711	+	Missense_Mutation	SNP	G	G	A	rs199823862		TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr1:248616711G>A	ENST00000342927.3	+	1	635	c.613G>A	c.(613-615)Gtg>Atg	p.V205M		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	205						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGCCTGCTGCGTGCTGATGCT	0.527																																																	0								ENSG00000196240						126.0	88.0	101.0					1																	248616711		2194	4265	6459	OR2T2	SO:0001583	missense	0			-	HGNC	BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"""GPCR / Class A : Olfactory receptors"""	14725	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 2 pseudogene"""	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.613G>A	1.37:g.248616711G>A	ENSP00000343062:p.Val205Met	Somatic	0	9	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	2	77.78	B2RNM1|B9EH01	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V205M	ENST00000342927.3	37	c.613	CCDS31116.1	1	.	.	.	.	.	.	.	.	.	.	g	8.304	0.820618	0.16678	.	.	ENSG00000196240	ENST00000342927	T	0.41065	1.01	3.72	0.777	0.18538	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43416	D	0.000579	T	0.40119	0.1104	M	0.71871	2.18	0.09310	N	1	D	0.58970	0.984	P	0.44477	0.451	T	0.37888	-0.9686	10	0.87932	D	0	.	6.9421	0.24498	0.4061:0.0:0.5939:0.0	.	205	Q6IF00	OR2T2_HUMAN	M	205	ENSP00000343062:V205M	ENSP00000343062:V205M	V	+	1	0	OR2T2	246683334	0.000000	0.05858	0.234000	0.24042	0.031000	0.12232	-0.402000	0.07223	-0.015000	0.14150	-0.403000	0.06358	GTG	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.527	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T2	protein_coding	OTTHUMT00000097421.1	G	NM_001004136	-		248616711	+1	no_errors	ENST00000342927	ensembl	human	known	74_37	missense	SNP	0.001	A
DPF3	8110	genome.wustl.edu	37	14	73137344	73137345	+	Intron	DEL	TC	TC	-	rs71788041		TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	TC	TC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr14:73137344_73137345delTC	ENST00000556509.1	-	8	871				DPF3_ENST00000541685.1_3'UTR|DPF3_ENST00000557704.1_5'UTR	NM_001280542.1	NP_001267471.1	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3						chromatin modification (GO:0016568)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TGATTTCCCTtctctctctctc	0.396																																																	0								ENSG00000205683																																			DPF3	SO:0001627	intron_variant	0				HGNC	U43919	CCDS45133.1, CCDS61495.1, CCDS61496.1, CCDS61497.1	14q24.2	2014-05-13			ENSG00000205683	ENSG00000205683		"""Zinc fingers, PHD-type"""	17427	protein-coding gene	gene with protein product		601672				11845289, 8812431	Standard	NM_012074		Approved	cer-d4, Cerd4, FLJ14079, BAF45c	uc010ari.1	Q92784		ENST00000556509.1:c.871+3602GA>-	14.37:g.73137354_73137355delTC		Somatic	0	37	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	25	19.35	A8MSI3|B7Z276|F5H575|Q32UJ0|Q6P9E6|Q6ZT41|Q9H7Y5	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000556509.1	37	NULL		14																																																																																			-	-		0.396	DPF3-004	NOVEL	basic|appris_principal|exp_conf	protein_coding	DPF3	protein_coding	OTTHUMT00000413152.2	TC				73137345	-1	no_errors	ENST00000557704	ensembl	human	known	74_37	rna	DEL	0.959:0.966	-
MCC	4163	genome.wustl.edu	37	5	112364566	112364566	+	Intron	SNP	G	G	T			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr5:112364566G>T	ENST00000302475.4	-	16	2873				MCC_ENST00000515367.2_Intron|MCC_ENST00000408903.3_Intron|MCC_ENST00000514701.3_5'UTR	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers						negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GTGTCTACATGCAGGGTGTCA	0.517																																																	0								ENSG00000171444																																			MCC	SO:0001627	intron_variant	0			-	HGNC		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.2309+64C>A	5.37:g.112364566G>T		Somatic	0	21	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	11	21.43	D3DT05|Q6ZR04	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000302475.4	37	NULL	CCDS4111.1	5																																																																																			-	-		0.517	MCC-001	KNOWN	basic|CCDS	protein_coding	MCC	protein_coding	OTTHUMT00000250736.3	G	NM_001085377	-		112364566	-1	no_errors	ENST00000514701	ensembl	human	known	74_37	rna	SNP	0.000	T
KRR1	11103	genome.wustl.edu	37	12	75897849	75897849	+	Missense_Mutation	SNP	T	T	G			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr12:75897849T>G	ENST00000229214.4	-	7	689	c.666A>C	c.(664-666)ttA>ttC	p.L222F	KRR1_ENST00000438169.2_Intron	NM_007043.6	NP_008974.5	Q13601	KRR1_HUMAN	KRR1, small subunit (SSU) processome component, homolog (yeast)	222					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						TCTTAATCATTAAGCTCTTTA	0.308																																																	0								ENSG00000111615						88.0	83.0	85.0					12																	75897849		2203	4300	6503	KRR1	SO:0001583	missense	0			-	HGNC	U55766	CCDS9012.1	12q	2011-03-15	2006-05-18	2006-05-18	ENSG00000111615	ENSG00000111615			5176	protein-coding gene	gene with protein product		612817	"""HIV-1 rev binding protein 2"", ""HIV-1 Rev binding protein 2"""	HRB2		7505766, 11027267, 11359931, 8675026	Standard	NM_007043		Approved	RIP-1	uc001sxt.3	Q13601	OTTHUMG00000169759	ENST00000229214.4:c.666A>C	12.37:g.75897849T>G	ENSP00000229214:p.Leu222Phe	Somatic	0	33	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	58	378	13.30	A0FIK6|A0JLP0|B2R989|E7EUQ0|Q8NEA8|Q8TC37|Q96AT5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_KH_dom_type_1,smart_KH_dom	p.L222F	ENST00000229214.4	37	c.666	CCDS9012.1	12	.	.	.	.	.	.	.	.	.	.	T	19.71	3.878862	0.72294	.	.	ENSG00000111615	ENST00000229214	T	0.33654	1.4	5.86	3.55	0.40652	.	0.000000	0.64402	D	0.000001	T	0.63153	0.2487	M	0.93898	3.47	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.65763	-0.6089	10	0.87932	D	0	-2.2027	5.4745	0.16688	0.0:0.3429:0.0:0.6571	.	222	Q13601	KRR1_HUMAN	F	222	ENSP00000229214:L222F	ENSP00000229214:L222F	L	-	3	2	KRR1	74184116	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.385000	0.34408	1.069000	0.40788	0.477000	0.44152	TTA	-	NULL		0.308	KRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRR1	protein_coding	OTTHUMT00000405727.1	T	NM_007043	-		75897849	-1	no_errors	ENST00000229214	ensembl	human	known	74_37	missense	SNP	1.000	G
SPATA31D1	389763	genome.wustl.edu	37	9	84608921	84608921	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr9:84608921C>T	ENST00000344803.2	+	4	3583	c.3536C>T	c.(3535-3537)tCc>tTc	p.S1179F		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1179					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GCAAGCACTTCCAATGAAACT	0.403																																																	0								ENSG00000214929						59.0	56.0	57.0					9																	84608921		1863	4117	5980	SPATA31D1	SO:0001583	missense	0			-	HGNC		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.3536C>T	9.37:g.84608921C>T	ENSP00000341988:p.Ser1179Phe	Somatic	0	59	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	48	36.00		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.S1179F	ENST00000344803.2	37	c.3536	CCDS47986.1	9	.	.	.	.	.	.	.	.	.	.	C	12.18	1.859444	0.32884	.	.	ENSG00000214929	ENST00000344803	T	0.05139	3.49	2.66	-3.1	0.05315	.	.	.	.	.	T	0.03263	0.0095	N	0.08118	0	0.09310	N	1	P	0.36683	0.565	B	0.40134	0.32	T	0.38351	-0.9665	9	0.72032	D	0.01	0.0034	2.819	0.05467	0.2565:0.4056:0.0:0.3379	.	1179	Q6ZQQ2	F75D1_HUMAN	F	1179	ENSP00000341988:S1179F	ENSP00000341988:S1179F	S	+	2	0	FAM75D1	83798741	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.028000	0.12350	-0.592000	0.05851	0.603000	0.83216	TCC	-	NULL		0.403	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31D1	protein_coding	OTTHUMT00000402325.1	C	NM_001001670	-		84608921	+1	no_errors	ENST00000344803	ensembl	human	known	74_37	missense	SNP	0.000	T
SPOCK1	6695	genome.wustl.edu	37	5	136314505	136314505	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr5:136314505delA	ENST00000394945.1	-	11	1327	c.1158delT	c.(1156-1158)tttfs	p.F386fs	SPOCK1_ENST00000509978.1_5'UTR|SPOCK1_ENST00000282223.7_Frame_Shift_Del_p.F386fs	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	386					cell adhesion (GO:0007155)|central nervous system neuron differentiation (GO:0021953)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron projection development (GO:0010977)|nervous system development (GO:0007399)|neurogenesis (GO:0022008)|neuron migration (GO:0001764)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|postsynaptic density (GO:0014069)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasm (GO:0016528)	calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CACCACTGCCAAAATCCCCTG	0.522																																																	0								ENSG00000152377						76.0	74.0	74.0					5																	136314505		2203	4300	6503	SPOCK1	SO:0001589	frameshift_variant	0				HGNC	AF231124	CCDS4191.1	5q31.2	2008-02-05	2005-11-04	2005-11-04	ENSG00000152377	ENSG00000152377			11251	protein-coding gene	gene with protein product		602264	"""sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican)"""	TIC1, SPOCK		9545645	Standard	NM_004598		Approved	testican-1	uc003lbp.3	Q08629	OTTHUMG00000129157	ENST00000394945.1:c.1158delT	5.37:g.136314505delA	ENSP00000378401:p.Phe386fs	Somatic	0	35	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	B3KSW3|Q59EW0|Q8N630|Q9UCL8	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	p.F386fs	ENST00000394945.1	37	c.1158	CCDS4191.1	5																																																																																			-	NULL		0.522	SPOCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPOCK1	protein_coding	OTTHUMT00000251222.1	A	NM_004598			136314505	-1	no_errors	ENST00000282223	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-
SMAD1	4086	genome.wustl.edu	37	4	146435710	146435710	+	5'UTR	SNP	C	C	T			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr4:146435710C>T	ENST00000515385.1	+	0	487				RP11-301H24.4_ENST00000513542.1_RNA|SMAD1_ENST00000515527.1_3'UTR|SMAD1_ENST00000394092.2_5'UTR|SMAD1_ENST00000302085.4_5'UTR			Q15797	SMAD1_HUMAN	SMAD family member 1						BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cardiac muscle cell proliferation (GO:0060038)|cartilage development (GO:0051216)|cellular response to BMP stimulus (GO:0071773)|embryonic pattern specification (GO:0009880)|gamete generation (GO:0007276)|hindbrain development (GO:0030902)|homeostatic process (GO:0042592)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|mesodermal cell fate commitment (GO:0001710)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|osteoblast fate commitment (GO:0002051)|positive regulation of cartilage development (GO:0061036)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of gene expression (GO:0010628)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|primary miRNA processing (GO:0031053)|protein phosphorylation (GO:0006468)|response to drug (GO:0042493)|response to organonitrogen compound (GO:0010243)|signal transduction (GO:0007165)|SMAD protein complex assembly (GO:0007183)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|mitochondrion (GO:0005739)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	co-SMAD binding (GO:0070410)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)			endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					TGTCCTTTTGCATTTGGAGAC	0.348																																					Pancreas(182;1287 2092 10326 35158 50562)												0								ENSG00000170365																																			SMAD1	SO:0001623	5_prime_UTR_variant	0			-	HGNC	U59423	CCDS3765.1	4q31.21	2013-10-22	2006-11-06	2004-05-26	ENSG00000170365	ENSG00000170365		"""SMADs"""	6767	protein-coding gene	gene with protein product		601595	"""MAD, mothers against decapentaplegic homolog 1 (Drosophila)"", ""SMAD, mothers against DPP homolog 1 (Drosophila)"""	MADH1		8653785, 8673135	Standard	NM_005900		Approved	MADR1, JV4-1	uc003ikc.3	Q15797	OTTHUMG00000161592	ENST00000515385.1:c.-56C>T	4.37:g.146435710C>T		Somatic	0	28	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	15	16.67	A8KAJ0|D3DNZ9|Q16636|Q9UFT8	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000515385.1	37	NULL	CCDS3765.1	4																																																																																			-	-		0.348	SMAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD1	protein_coding	OTTHUMT00000365467.1	C	NM_005900	-		146435710	+1	no_errors	ENST00000506626	ensembl	human	known	74_37	rna	SNP	0.000	T
COL4A2	1284	genome.wustl.edu	37	13	111109209	111109209	+	Intron	SNP	G	G	A	rs561182370	byFrequency	TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr13:111109209G>A	ENST00000360467.5	+	21	1645				COL4A2-AS2_ENST00000458403.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2						angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GATGCCCTGCGTCTGCGTGGG	0.711													-|||	35	0.00698882	0.0038	0.0086	5008	,	,		13528	0.001		0.0099	False		,,,				2504	0.0133																0								ENSG00000224821																																			COL4A2-AS2	SO:0001627	intron_variant	0			-	HGNC	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.1340-481G>A	13.37:g.111109209G>A		Somatic	0	33	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	21	12.50	Q14052|Q548C3|Q5VZA9|Q66K23	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000360467.5	37	NULL	CCDS41907.1	13	.	.	.	.	.	.	.	.	.	.	-	5.897	0.349665	0.11182	.	.	ENSG00000224821	ENST00000458403	.	.	.	1.24	0.2	0.15181	.	.	.	.	.	T	0.56746	0.2006	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49476	-0.8936	5	0.46703	T	0.11	.	6.1362	0.20235	0.2129:0.0:0.7871:0.0	.	.	.	.	M	325	.	ENSP00000390212:T325M	T	-	2	0	COL4A2-AS2	109907210	0.160000	0.22878	0.021000	0.16686	0.014000	0.08584	-0.441000	0.06879	-0.503000	0.06586	-1.054000	0.02325	ACG	-	-		0.711	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A2-AS2	protein_coding	OTTHUMT00000045761.2	G	NM_001846	-		111109209	-1	no_errors	ENST00000458403	ensembl	human	known	74_37	rna	SNP	0.997	A
FGFR1OP	11116	genome.wustl.edu	37	6	167413584	167413584	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr6:167413584G>C	ENST00000366847.4	+	2	370	c.139G>C	c.(139-141)Gag>Cag	p.E47Q	FGFR1OP_ENST00000476078.1_3'UTR|RP1-167A14.2_ENST00000444102.1_RNA|RP11-517H2.6_ENST00000609590.1_RNA|FGFR1OP_ENST00000349556.4_Missense_Mutation_p.E47Q|MIR3939_ENST00000582614.1_RNA	NM_007045.2	NP_008976.1	O95684	FR1OP_HUMAN	FGFR1 oncogene partner	47					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|mitotic cell cycle (GO:0000278)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein tyrosine kinase activity (GO:0061099)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|protein tyrosine kinase inhibitor activity (GO:0030292)			large_intestine(2)|ovary(1)|stomach(1)	4		Breast(66;1.48e-05)|Ovarian(120;0.0607)		OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231)		AGCACTAGAGGAGCAAGAAAA	0.308			T	FGFR1	"""MPD, NHL"""																																			Dom	yes		6	6q27	11116	FGFR1 oncogene partner (FOP)		L	0								ENSG00000213066						96.0	102.0	100.0					6																	167413584		2203	4300	6503	FGFR1OP	SO:0001583	missense	0			-	HGNC	Y18046	CCDS5296.1, CCDS5297.1, CCDS75550.1	6q27	2008-02-05			ENSG00000213066	ENSG00000213066			17012	protein-coding gene	gene with protein product		605392				9949182, 10373756	Standard	NM_007045		Approved	FOP	uc003qvj.3	O95684	OTTHUMG00000016011	ENST00000366847.4:c.139G>C	6.37:g.167413584G>C	ENSP00000355812:p.Glu47Gln	Somatic	0	112	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	90	15.09	A8K1D1|B2R705|Q49AI0|Q5R3F6|Q96EW1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_FOP_dimerisation-dom_N,pfscan_LisH_dimerisation	p.E47Q	ENST00000366847.4	37	c.139	CCDS5296.1	6	.	.	.	.	.	.	.	.	.	.	G	18.85	3.712328	0.68730	.	.	ENSG00000213066	ENST00000366847;ENST00000420493;ENST00000349556	T;T	0.39406	1.08;1.08	4.19	4.19	0.49359	.	0.200999	0.41294	D	0.000920	T	0.45478	0.1344	L	0.48642	1.525	0.51233	D	0.999914	D;D;P	0.89917	1.0;1.0;0.715	D;D;B	0.71414	0.973;0.947;0.401	T	0.41484	-0.9506	10	0.44086	T	0.13	-24.1284	13.6923	0.62553	0.0:0.0:1.0:0.0	.	47;47;47	E7ET71;O95684-2;O95684	.;.;FR1OP_HUMAN	Q	47	ENSP00000355812:E47Q;ENSP00000230248:E47Q	ENSP00000230248:E47Q	E	+	1	0	FGFR1OP	167333574	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.674000	0.61612	1.864000	0.54056	0.555000	0.69702	GAG	-	NULL		0.308	FGFR1OP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FGFR1OP	protein_coding	OTTHUMT00000043099.2	G	NM_007045	-		167413584	+1	no_errors	ENST00000366847	ensembl	human	known	74_37	missense	SNP	1.000	C
KIAA2022	340533	genome.wustl.edu	37	X	73961202	73961202	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chrX:73961202G>A	ENST00000055682.6	-	3	3801	c.3190C>T	c.(3190-3192)Cgc>Tgc	p.R1064C		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1064					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GAAGAGTGGCGGAATTTGTCA	0.493																																																	0								ENSG00000050030						85.0	80.0	82.0					X																	73961202		2203	4300	6503	KIAA2022	SO:0001583	missense	0			-	HGNC		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.3190C>T	X.37:g.73961202G>A	ENSP00000055682:p.Arg1064Cys	Somatic	0	16	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	12	45.45	A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.R1064C	ENST00000055682.6	37	c.3190	CCDS35337.1	X	.	.	.	.	.	.	.	.	.	.	G	17.43	3.388088	0.61956	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.56103	0.48;0.48	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.61850	0.2380	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65356	-0.6188	10	0.87932	D	0	-6.4016	13.0532	0.58966	0.0:0.0:0.8394:0.1606	.	1064	Q5QGS0	K2022_HUMAN	C	1064	ENSP00000362567:R1064C;ENSP00000055682:R1064C	ENSP00000055682:R1064C	R	-	1	0	KIAA2022	73877927	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.659000	0.68010	2.192000	0.70111	0.600000	0.82982	CGC	-	NULL		0.493	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA2022	protein_coding	OTTHUMT00000057270.2	G	NM_001008537	-		73961202	-1	no_errors	ENST00000055682	ensembl	human	known	74_37	missense	SNP	1.000	A
RP11-509A17.3	0	genome.wustl.edu	37	15	20563408	20563417	+	lincRNA	DEL	CCTCTCCCTT	CCTCTCCCTT	-	rs537093760|rs537797892	byFrequency	TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	CCTCTCCCTT	CCTCTCCCTT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr15:20563408_20563417delCCTCTCCCTT	ENST00000557528.1	+	0	1812				AC026495.1_ENST00000581090.1_RNA																							CCTCCCAGAGcctctcccttcctctccctt	0.671														795	0.158746	0.1793	0.1427	5008	,	,		62278	0.1319		0.1322	False		,,,				2504	0.1973																0								ENSG00000265002																																			AC026495.1			0				Clone_based_ensembl_gene																													15.37:g.20563418_20563427delCCTCTCCCTT		Somatic	NA	NA	NA		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA		RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000557528.1	37	NULL		15																																																																																			-	-		0.671	RP11-509A17.3-001	KNOWN	basic	lincRNA	ENSG00000265002	lincRNA	OTTHUMT00000414658.1	CCTCTCCCTT				20563417	+1	no_errors	ENST00000581090	ensembl	human	novel	74_37	rna	DEL	0.055:0.047:0.032:0.034:0.033:0.036:0.075:0.098:0.111:0.132	-
NUP98	4928	genome.wustl.edu	37	11	3774581	3774581	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr11:3774581G>T	ENST00000324932.7	-	11	1652	c.1232C>A	c.(1231-1233)aCt>aAt	p.T411N	NUP98_ENST00000397004.4_Missense_Mutation_p.T411N|NUP98_ENST00000355260.3_Missense_Mutation_p.T411N|NUP98_ENST00000359171.4_Missense_Mutation_p.T411N|NUP98_ENST00000397007.4_Missense_Mutation_p.T428N	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	428	FG repeats 2.|Gly/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		AGTTCCAAGAGTCCCAGGTGC	0.413			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																			Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	0								ENSG00000110713						89.0	85.0	86.0					11																	3774581		2201	4298	6499	NUP98	SO:0001583	missense	0			-	HGNC	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.1232C>A	11.37:g.3774581G>T	ENSP00000316032:p.Thr411Asn	Somatic	0	76	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Nup96,pfam_Peptidase_S59,superfamily_Peptidase_S59	p.T411N	ENST00000324932.7	37	c.1232	CCDS7746.1	11	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	13.10|13.10|13.10	2.135695|2.135695|2.135695	0.37728|0.37728|0.37728	.|.|.	.|.|.	ENSG00000110713|ENSG00000110713|ENSG00000110713	ENST00000527104|ENST00000529379|ENST00000324932;ENST00000359171;ENST00000355260;ENST00000397004;ENST00000397007	.|.|.	.|.|.	.|.|.	5.34|5.34|5.34	5.34|5.34|5.34	0.76211|0.76211|0.76211	.|.|.	.|.|0.164141	.|.|0.56097	.|.|D	.|.|0.000038	T|T|T	0.61527|0.61527|0.61527	0.2354|0.2354|0.2354	M|M|M	0.64080|0.64080|0.64080	1.96|1.96|1.96	0.42803|0.42803|0.42803	D|D|D	0.99393|0.99393|0.99393	.|.|B;B;P;P	.|.|0.44946	.|.|0.435;0.435;0.715;0.846	.|.|B;B;B;P	.|.|0.46362	.|.|0.283;0.283;0.428;0.514	T|T|T	0.58463|0.58463|0.58463	-0.7632|-0.7632|-0.7632	5|5|9	.|.|0.19590	.|.|T	.|.|0.45	.|.|.	18.0268|18.0268|18.0268	0.89271|0.89271|0.89271	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|428;411;411;411	.|.|P52948-3;P52948-4;P52948-2;P52948-5	.|.|.;.;.;.	E|I|N	30|60|411;411;411;411;428	.|.|.	.|.|ENSP00000316032:T411N	D|L|T	-|-|-	3|1|2	2|0|0	NUP98|NUP98|NUP98	3731157|3731157|3731157	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.998000|0.998000|0.998000	0.56505|0.56505|0.56505	0.992000|0.992000|0.992000	0.81027|0.81027|0.81027	3.674000|3.674000|3.674000	0.54598|0.54598|0.54598	2.500000|2.500000|2.500000	0.84329|0.84329|0.84329	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAC|CTC|ACT	-	NULL		0.413	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP98	protein_coding	OTTHUMT00000032766.3	G	NM_016320	-		3774581	-1	no_errors	ENST00000324932	ensembl	human	known	74_37	missense	SNP	1.000	T
NOD1	10392	genome.wustl.edu	37	7	30486646	30486646	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr7:30486646G>T	ENST00000222823.4	-	8	2831	c.2306C>A	c.(2305-2307)aCc>aAc	p.T769N		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	769					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						TCCGACATCGGTGATCTGGTT	0.448																																																	0								ENSG00000106100						171.0	154.0	160.0					7																	30486646		2203	4300	6503	NOD1	SO:0001583	missense	0			-	HGNC	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"""Nucleotide-binding domain and leucine rich repeat containing"""	16390	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1"", ""NLR family, CARD domain containing 1"""	605980	"""caspase recruitment domain family, member 4"""	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.2306C>A	7.37:g.30486646G>T	ENSP00000222823:p.Thr769Asn	Somatic	0	50	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	B4DTU3|Q549U4|Q8IWF5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD	p.T769N	ENST00000222823.4	37	c.2306	CCDS5427.1	7	.	.	.	.	.	.	.	.	.	.	G	29.7	5.030204	0.93575	.	.	ENSG00000106100	ENST00000222823	T	0.54479	0.57	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.71693	0.3370	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.68992	-0.5263	10	0.46703	T	0.11	.	19.3813	0.94536	0.0:0.0:1.0:0.0	.	769	Q9Y239	NOD1_HUMAN	N	769	ENSP00000222823:T769N	ENSP00000222823:T769N	T	-	2	0	NOD1	30453171	1.000000	0.71417	0.984000	0.44739	0.996000	0.88848	7.241000	0.78201	2.824000	0.97209	0.655000	0.94253	ACC	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.448	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOD1	protein_coding	OTTHUMT00000250443.2	G		-		30486646	-1	no_errors	ENST00000222823	ensembl	human	known	74_37	missense	SNP	1.000	T
ZNF141	7700	genome.wustl.edu	37	4	367589	367589	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr4:367589G>A	ENST00000240499.7	+	4	1512	c.1363G>A	c.(1363-1365)Gat>Aat	p.D455N	ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	455					anatomical structure morphogenesis (GO:0009653)|limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D455H(1)		breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						CAAATGTAAAGATTGTGACAA	0.328																																																	1	Substitution - Missense(1)	breast(1)						ENSG00000131127						69.0	76.0	74.0					4																	367589		2203	4299	6502	ZNF141	SO:0001583	missense	0			-	HGNC	L15309	CCDS33931.1	4p16.3	2013-01-08	2006-06-13			ENSG00000131127		"""Zinc fingers, C2H2-type"", ""-"""	12926	protein-coding gene	gene with protein product		194648	"""zinc finger protein 141 (clone pHZ-44)"""	D4S90		8268908	Standard	NM_003441		Approved	pHZ-44	uc003gaa.2	Q15928		ENST00000240499.7:c.1363G>A	4.37:g.367589G>A	ENSP00000240499:p.Asp455Asn	Somatic	0	99	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	95	8.65	Q6DK07	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	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	p.D455N	ENST00000240499.7	37	c.1363	CCDS33931.1	4	.	.	.	.	.	.	.	.	.	.	G	12.93	2.085623	0.36758	.	.	ENSG00000131127	ENST00000240499	T	0.35973	1.28	1.24	1.24	0.21308	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27832	0.0685	L	0.39467	1.215	0.09310	N	1	B	0.22003	0.063	B	0.27170	0.077	T	0.27706	-1.0066	8	.	.	.	.	7.8922	0.29684	0.0:0.0:1.0:0.0	.	455	Q15928	ZN141_HUMAN	N	455	ENSP00000240499:D455N	.	D	+	1	0	ZNF141	357589	0.000000	0.05858	0.871000	0.34182	0.719000	0.41307	-0.343000	0.07791	0.591000	0.29711	0.313000	0.20887	GAT	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.328	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF141	protein_coding	OTTHUMT00000357710.1	G	NM_003441	-		367589	+1	no_errors	ENST00000240499	ensembl	human	known	74_37	missense	SNP	0.011	A
HSD17B6	8630	genome.wustl.edu	37	12	57167862	57167862	+	Silent	SNP	A	A	C			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr12:57167862A>C	ENST00000554643.1	+	3	575	c.226A>C	c.(226-228)Agg>Cgg	p.R76R	HSD17B6_ENST00000555805.1_Silent_p.R76R|HSD17B6_ENST00000555159.1_Silent_p.R76R|HSD17B6_ENST00000554150.1_Silent_p.R76R|HSD17B6_ENST00000322165.1_Silent_p.R76R			O14756	H17B6_HUMAN	hydroxysteroid (17-beta) dehydrogenase 6	76					androgen biosynthetic process (GO:0006702)|androgen catabolic process (GO:0006710)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|intracellular (GO:0005622)|membrane (GO:0016020)	catalytic activity (GO:0003824)|electron carrier activity (GO:0009055)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|oxidoreductase activity (GO:0016491)|retinol dehydrogenase activity (GO:0004745)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10					Succinic acid(DB00139)	GACGTCTGACAGGCTGGAGAC	0.587																																																	0								ENSG00000025423						65.0	66.0	66.0					12																	57167862		2203	4300	6503	HSD17B6	SO:0001819	synonymous_variant	0			-	HGNC	AF016509	CCDS8925.1	12q13.3	2012-12-07	2012-12-07		ENSG00000025423	ENSG00000025423	1.1.1.62, 1.1.1.63, 1.1.1.105	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	23316	protein-coding gene	gene with protein product	"""oxidative 3-alpha-hydroxysteroid-dehydrogenase"", ""3(alpha->beta)-hydroxysteroid epimerasel"", ""retinol dehydrogenase"", ""oxidoreductase"", ""NAD+ -dependent 3 alpha-hydroxysteroid dehydrogenase"", ""3-hydroxysteroid epimerase"", ""short chain dehydrogenase/reductase family 9C, member 6"""	606623	"""hydroxysteroid (17-beta) dehydrogenase 6"", ""hydroxysteroid (17-beta) dehydrogenase 6 homolog (mouse)"""			11165032, 19027726	Standard	XM_005269207		Approved	HSE, RODH, SDR9C6	uc001smg.1	O14756	OTTHUMG00000170854	ENST00000554643.1:c.226A>C	12.37:g.57167862A>C		Somatic	0	38	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	168	24	87.50	O43275	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.R76	ENST00000554643.1	37	c.226	CCDS8925.1	12																																																																																			-	pfam_DH_sc/Rdtase_SDR		0.587	HSD17B6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HSD17B6	protein_coding	OTTHUMT00000410714.1	A	NM_003725	-		57167862	+1	no_errors	ENST00000322165	ensembl	human	known	74_37	silent	SNP	0.155	C
LOC100996455	100996455	genome.wustl.edu	37	11	64217403	64217403	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr11:64217403A>G	ENST00000316124.2	+	2	614	c.143A>G	c.(142-144)cAg>cGg	p.Q48R																								GAGGGGCCCCAGGAAGCTGGC	0.657																																																	0								ENSG00000181908																																			AP003774.4	SO:0001583	missense	0			-	Clone_based_vega_gene																												ENST00000316124.2:c.143A>G	11.37:g.64217403A>G	ENSP00000325219:p.Gln48Arg	Somatic	0	44	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	14	22.22		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.Q48R	ENST00000316124.2	37	c.143		11	.	.	.	.	.	.	.	.	.	.	A	4.139	0.024058	0.08006	.	.	ENSG00000181908	ENST00000316124	.	.	.	1.92	-0.61	0.11604	.	.	.	.	.	T	0.36054	0.0953	.	.	.	.	.	.	.	.	.	.	.	.	T	0.45585	-0.9251	4	0.87932	D	0	.	2.5073	0.04648	0.5277:0.2912:0.1811:0.0	.	.	.	.	R	48	.	ENSP00000325219:Q48R	Q	+	2	0	AP003774.4	63973979	0.004000	0.15560	0.000000	0.03702	0.025000	0.11179	0.460000	0.21924	-0.163000	0.10946	-0.376000	0.06991	CAG	-	NULL		0.657	AP003774.4-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	ENSG00000181908	protein_coding	OTTHUMT00000106328.2	A		-		64217403	+1	no_errors	ENST00000316124	ensembl	human	putative	74_37	missense	SNP	0.000	G
POFUT2	23275	genome.wustl.edu	37	21	46705651	46705651	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr21:46705651delA	ENST00000349485.5	-	2	350	c.324delT	c.(322-324)tttfs	p.F108fs	BX322557.10_ENST00000454115.2_RNA|POFUT2_ENST00000471540.1_5'Flank|POFUT2_ENST00000331343.7_Frame_Shift_Del_p.F108fs	NM_133635.4	NP_598368.2	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	108					fucose metabolic process (GO:0006004)|mesoderm formation (GO:0001707)|protein O-linked fucosylation (GO:0036066)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of gene expression (GO:0010468)|regulation of secretion (GO:0051046)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	peptide-O-fucosyltransferase activity (GO:0046922)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		TTGGAAGATCAAAAAACTCAG	0.562																																																	0								ENSG00000186866						91.0	102.0	99.0					21																	46705651		2203	4300	6503	POFUT2	SO:0001589	frameshift_variant	0				HGNC	AJ203079	CCDS13719.1, CCDS13721.1	21q22.3	2013-03-06	2004-06-07	2004-06-09	ENSG00000186866	ENSG00000186866	2.4.1.221	"""Fucosyltransferases"""	14683	protein-coding gene	gene with protein product	"""peptide-O-fucosyltransferase"", ""GDP-fucose protein O-fucosyltransferase 2"""	610249	"""chromosome 21 open reading frame 80"""	C21orf80			Standard	NM_133635		Approved	KIAA0958, FUT13	uc002zhc.3	Q9Y2G5	OTTHUMG00000084874	ENST00000349485.5:c.324delT	21.37:g.46705651delA	ENSP00000339613:p.Phe108fs	Somatic	0	19	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	14	12.50	Q6PJV1|Q7Z4N0|Q8WWU6|Q9BQS4|Q9BQS5|Q9UFY3	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_GDP-Fuc_O-FucTrfase,superfamily_DUF749	p.F108fs	ENST00000349485.5	37	c.324	CCDS13719.1	21																																																																																			-	pfam_GDP-Fuc_O-FucTrfase		0.562	POFUT2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	POFUT2	protein_coding	OTTHUMT00000192573.2	A	NM_015227			46705651	-1	no_errors	ENST00000349485	ensembl	human	known	74_37	frame_shift_del	DEL	0.981	-
C12orf54	121273	genome.wustl.edu	37	12	48882278	48882279	+	Intron	INS	-	-	AC	rs67325885|rs200977170|rs77875864	byFrequency	TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr12:48882278_48882279insAC	ENST00000548364.1	+	4	192				RP11-722P11.4_ENST00000551847.1_RNA|C12orf54_ENST00000314014.2_Intron|C12orf54_ENST00000548913.1_3'UTR			Q6X4T0	CL054_HUMAN	chromosome 12 open reading frame 54											endometrium(1)|large_intestine(4)	5						AAAAAAAAAAAGAAAGAAAGAA	0.332																																																	0								ENSG00000177627																																			C12orf54	SO:0001627	intron_variant	0				HGNC	BC031670	CCDS8764.1	12q13.11	2011-01-31			ENSG00000177627	ENSG00000177627			28553	protein-coding gene	gene with protein product						12477932	Standard	NM_152319		Approved	MGC35033	uc001rrr.3	Q6X4T0	OTTHUMG00000170019	ENST00000548364.1:c.136-428->AC	12.37:g.48882278_48882279insAC		Somatic	0	13	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	5	44.44	Q6X4S9|Q8N5S2	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000548364.1	37	NULL	CCDS8764.1	12																																																																																			-	-		0.332	C12orf54-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	C12orf54	protein_coding	OTTHUMT00000406875.1	-	NM_152319			48882279	+1	no_errors	ENST00000548913	ensembl	human	known	74_37	rna	INS	0.033:0.007	AC
KCNJ3	3760	genome.wustl.edu	37	2	155555781	155555781	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr2:155555781A>T	ENST00000295101.2	+	1	971	c.494A>T	c.(493-495)cAg>cTg	p.Q165L	AC061961.2_ENST00000443901.1_RNA|KCNJ3_ENST00000544049.1_Missense_Mutation_p.Q165L	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	KCNJ3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	165					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to electrical stimulus (GO:0051602)|synaptic transmission (GO:0007268)	external side of plasma membrane (GO:0009897)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	TTCCTCTTCCAGTCCATCCTG	0.577																																																	0								ENSG00000162989						103.0	83.0	90.0					2																	155555781		2203	4300	6503	KCNJ3	SO:0001583	missense	0			-	HGNC	U50964	CCDS2200.1, CCDS58733.1	2q24.1	2011-07-05			ENSG00000162989	ENSG00000162989		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6264	protein-coding gene	gene with protein product		601534				8088798, 16382105	Standard	NM_002239		Approved	Kir3.1, GIRK1, KGA	uc002tyv.2	P48549	OTTHUMG00000131937	ENST00000295101.2:c.494A>T	2.37:g.155555781A>T	ENSP00000295101:p.Gln165Leu	Somatic	0	19	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	2	75.00	B4DEW7|Q8TBI0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.1,prints_K_chnl_inward-rec_Kir	p.Q165L	ENST00000295101.2	37	c.494	CCDS2200.1	2	.	.	.	.	.	.	.	.	.	.	A	21.4	4.141353	0.77775	.	.	ENSG00000162989	ENST00000295101;ENST00000544049	D;D	0.96232	-3.95;-3.95	5.4	5.4	0.78164	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.000000	0.85682	D	0.000000	D	0.98855	0.9613	H	0.97806	4.08	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.999;0.993	D	0.99457	1.0942	10	0.87932	D	0	.	14.2459	0.65988	1.0:0.0:0.0:0.0	.	165;165	B4DEW7;P48549	.;IRK3_HUMAN	L	165	ENSP00000295101:Q165L;ENSP00000438410:Q165L	ENSP00000295101:Q165L	Q	+	2	0	KCNJ3	155264027	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.269000	0.95684	2.048000	0.60808	0.454000	0.30748	CAG	-	pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir		0.577	KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ3	protein_coding	OTTHUMT00000254890.2	A	NM_002239	-		155555781	+1	no_errors	ENST00000295101	ensembl	human	known	74_37	missense	SNP	1.000	T
CA14	23632	genome.wustl.edu	37	1	150232724	150232724	+	Intron	SNP	C	C	A			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr1:150232724C>A	ENST00000369111.4	+	2	1046				snoU13_ENST00000458929.1_RNA	NM_012113.1	NP_036245.1	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV						bicarbonate transport (GO:0015701)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)		Acetazolamide(DB00819)|Zonisamide(DB00909)	ACATATATGGCTCCTAGATCC	0.498																																																	0								ENSG00000118298																																			CA14	SO:0001627	intron_variant	0			-	HGNC	AB025904	CCDS947.1	1q21	2008-02-05			ENSG00000118298	ENSG00000118298		"""Carbonic anhydrases"""	1372	protein-coding gene	gene with protein product		604832				10512682	Standard	XM_005245059		Approved		uc001etx.3	Q9ULX7	OTTHUMG00000012549	ENST00000369111.4:c.76+158C>A	1.37:g.150232724C>A		Somatic	0	42	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	23	11.54	Q5TB24|Q8NCF4	Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.G41	ENST00000369111.4	37	c.123	CCDS947.1	1																																																																																			-	NULL		0.498	CA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA14	protein_coding	OTTHUMT00000035064.2	C	NM_012113	-		150232724	+1	no_errors	ENST00000483993	ensembl	human	known	74_37	silent	SNP	0.000	A
HYDIN	54768	genome.wustl.edu	37	16	70942292	70942292	+	Silent	SNP	C	C	T			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr16:70942292C>T	ENST00000393567.2	-	49	8409	c.8259G>A	c.(8257-8259)acG>acA	p.T2753T		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2753					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GCACCTGCAACGTTACCTCGC	0.502																																																	0								ENSG00000157423						7.0	7.0	7.0					16																	70942292		1756	3990	5746	HYDIN	SO:0001819	synonymous_variant	0			-	HGNC	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.8259G>A	16.37:g.70942292C>T		Somatic	0	40	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	21	34.38	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	NA	NA	NA	NA	NA	NA	superfamily_P-loop_NTPase,superfamily_PapD-like	p.T2753	ENST00000393567.2	37	c.8259	CCDS59269.1	16																																																																																			-	NULL		0.502	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	protein_coding	OTTHUMT00000398624.3	C		-		70942292	-1	no_errors	ENST00000393567	ensembl	human	putative	74_37	silent	SNP	0.000	T
HLA-DQA2	3118	genome.wustl.edu	37	6	32712953	32712953	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr6:32712953T>A	ENST00000374940.3	+	2	202	c.100T>A	c.(100-102)Tat>Aat	p.Y34N		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	34	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					"""""""Insulin(DB00071)"""	TGTTGCCTCCTATGGTGTGAA	0.488																																																	0								ENSG00000237541						207.0	206.0	206.0					6																	32712953		1511	2708	4219	HLA-DQA2	SO:0001583	missense	0			-	HGNC		CCDS4753.1	6p21.3	2013-01-11			ENSG00000237541	ENSG00000237541		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4943	protein-coding gene	gene with protein product		613503		HLA-DXA			Standard	NM_020056		Approved		uc003obx.3	P01906	OTTHUMG00000031108	ENST00000374940.3:c.100T>A	6.37:g.32712953T>A	ENSP00000364076:p.Tyr34Asn	Somatic	0	36	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	18	28.00	A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_MHC_II_a_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like_dom	p.Y34N	ENST00000374940.3	37	c.100	CCDS4753.1	6	.	.	.	.	.	.	.	.	.	.	.	13.63	2.293409	0.40594	.	.	ENSG00000237541	ENST00000374940	T	0.00873	5.59	3.16	3.16	0.36331	MHC class II, alpha/beta chain, N-terminal (1);MHC classes I/II-like antigen recognition protein (1);MHC class II, alpha chain, N-terminal (2);	1.134340	0.06545	U	0.744018	T	0.03434	0.0099	H	0.96333	3.805	0.09310	N	1	D	0.54047	0.964	P	0.59171	0.853	T	0.36089	-0.9762	10	0.87932	D	0	.	7.9968	0.30273	0.0:0.0:0.0:1.0	.	34	P01906	DQA2_HUMAN	N	34	ENSP00000364076:Y34N	ENSP00000364076:Y34N	Y	+	1	0	HLA-DQA2	32820931	0.006000	0.16342	0.027000	0.17364	0.004000	0.04260	0.756000	0.26419	1.442000	0.47568	0.315000	0.21342	TAT	-	pfam_MHC_II_a_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N		0.488	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	HLA-DQA2	protein_coding	OTTHUMT00000076179.2	T	NM_020056	-		32712953	+1	no_errors	ENST00000374940	ensembl	human	known	74_37	missense	SNP	0.054	A
BRCA2	675	genome.wustl.edu	37	13	32913559	32913559	+	Frame_Shift_Del	DEL	A	A	-	rs80359479|rs80359481		TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr13:32913559delA	ENST00000380152.3	+	11	5300	c.5067delA	c.(5065-5067)gcafs	p.A1689fs	BRCA2_ENST00000544455.1_Frame_Shift_Del_p.A1689fs			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1689	Interaction with POLH.				brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TACTTGAAGCAAAAAAATGGC	0.313			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)		yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"""L, E"""	0								ENSG00000139618			17,4187		1,15,2086	36.0	39.0	38.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene		3.9	1.0	13	dbSNP_132	38	14,8208		1,12,4098	no	frameshift	BRCA2	NM_000059.3		2,27,6184	A1A1,A1R,RR		0.1703,0.4044,0.2495			32913559	31,12395	2181	4286	6467	BRCA2	SO:0001589	frameshift_variant	0	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)		HGNC	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.5067delA	13.37:g.32913559delA	ENSP00000369497:p.Ala1689fs	Somatic	0	45	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	23	11.54	O00183|O15008|Q13879|Q5TBJ7	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat	p.K1691fs	ENST00000380152.3	37	c.5067	CCDS9344.1	13																																																																																			-	pfam_BRCA2_repeat,pirsf_BRCA2,pfscan_BRCA2_repeat		0.313	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA2	protein_coding	OTTHUMT00000046000.2	A	NM_000059			32913559	+1	no_errors	ENST00000380152	ensembl	human	known	74_37	frame_shift_del	DEL	0.963	-
WDSUB1	151525	genome.wustl.edu	37	2	160112887	160112887	+	Splice_Site	SNP	C	C	T			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr2:160112887C>T	ENST00000409990.3	-	9	1209		c.e9-1		WDSUB1_ENST00000409124.1_Splice_Site|WDSUB1_ENST00000392796.3_Splice_Site|WDSUB1_ENST00000359774.4_Splice_Site|WDSUB1_ENST00000358147.4_Splice_Site	NM_001128213.1	NP_001121685	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain containing 1								ubiquitin-protein transferase activity (GO:0004842)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						GTGCGCCTTGCTTAAAATAAA	0.333																																																	0								ENSG00000196151						74.0	71.0	72.0					2																	160112887		2203	4300	6503	WDSUB1	SO:0001630	splice_region_variant	0			-	HGNC	AK093494	CCDS2208.1	2q24.2	2013-01-28	2006-02-17	2005-03-25	ENSG00000196151	ENSG00000196151		"""WD repeat domain containing"", ""Sterile alpha motif (SAM) domain containing"", ""U-box domain containing"""	26697	protein-coding gene	gene with protein product			"""WD repeat and SAM domain containing 1"", ""WD repeat, SAM and U-box domain containing 1"""	WDSAM1		12477932	Standard	NM_152528		Approved	UBOX6, FLJ36175	uc002ual.4	Q8N9V3	OTTHUMG00000132028	ENST00000409990.3:c.953-1G>A	2.37:g.160112887C>T		Somatic	0	46	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	20	35.48	Q53TI9|Q8N6N8	Splice_Site	SNP	NA	NA	NA	NA	NA	NA	-	e8-1	ENST00000409990.3	37	c.953-1	CCDS2208.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.756395	0.96898	.	.	ENSG00000196151	ENST00000359774;ENST00000358147;ENST00000392796;ENST00000409990;ENST00000409124	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6558	0.88177	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	WDSUB1	159821133	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	6.268000	0.72552	2.596000	0.87737	0.655000	0.94253	.	-	-		0.333	WDSUB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	WDSUB1	protein_coding	OTTHUMT00000333339.1	C	NM_152528	-	Intron	160112887	-1	no_errors	ENST00000359774	ensembl	human	known	74_37	splice_site	SNP	1.000	T
ZNF141	7700	genome.wustl.edu	37	4	367636	367636	+	Silent	SNP	G	G	A			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr4:367636G>A	ENST00000240499.7	+	4	1559	c.1410G>A	c.(1408-1410)aaG>aaA	p.K470K	ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	470					anatomical structure morphogenesis (GO:0009653)|limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						ATAAACATAAGAAAATTCATA	0.323																																																	0								ENSG00000131127						51.0	57.0	55.0					4																	367636		2194	4290	6484	ZNF141	SO:0001819	synonymous_variant	0			-	HGNC	L15309	CCDS33931.1	4p16.3	2013-01-08	2006-06-13			ENSG00000131127		"""Zinc fingers, C2H2-type"", ""-"""	12926	protein-coding gene	gene with protein product		194648	"""zinc finger protein 141 (clone pHZ-44)"""	D4S90		8268908	Standard	NM_003441		Approved	pHZ-44	uc003gaa.2	Q15928		ENST00000240499.7:c.1410G>A	4.37:g.367636G>A		Somatic	0	71	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	73	10.98	Q6DK07	Silent	SNP	NA	NA	NA	NA	NA	NA	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	p.K470	ENST00000240499.7	37	c.1410	CCDS33931.1	4																																																																																			-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.323	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF141	protein_coding	OTTHUMT00000357710.1	G	NM_003441	-		367636	+1	no_errors	ENST00000240499	ensembl	human	known	74_37	silent	SNP	0.423	A
INTS1	26173	genome.wustl.edu	37	7	1528982	1528982	+	Silent	SNP	G	G	C	rs149703686		TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr7:1528982G>C	ENST00000404767.3	-	18	2401	c.2316C>G	c.(2314-2316)acC>acG	p.T772T	INTS1_ENST00000389470.4_Silent_p.T900T	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	772					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GCACTCACTTGGTCATCACCA	0.682																																																	0								ENSG00000164880						31.0	40.0	37.0					7																	1528982		2091	4193	6284	INTS1	SO:0001819	synonymous_variant	0			-	HGNC	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.2316C>G	7.37:g.1528982G>C		Somatic	0	16	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	19	20.83	A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_DUF3677,superfamily_ARM-type_fold	p.T900	ENST00000404767.3	37	c.2700	CCDS47526.1	7																																																																																			-	NULL		0.682	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS1	protein_coding	OTTHUMT00000323683.1	G		-		1528982	-1	no_errors	ENST00000389470	ensembl	human	known	74_37	silent	SNP	0.998	C
LPAR6	10161	genome.wustl.edu	37	13	48986060	48986060	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr13:48986060G>T	ENST00000378434.4	-	7	2124	c.500C>A	c.(499-501)gCc>gAc	p.A167D	LPAR6_ENST00000345941.2_Missense_Mutation_p.A167D|RB1_ENST00000267163.4_Intron	NM_005767.5	NP_005758.2	P43657	LPAR6_HUMAN	lysophosphatidic acid receptor 6	167						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.0?(15)|p.?(4)		NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						ttcaaagcaggCTTCTGAGGC	0.403																																																	19	Whole gene deletion(15)|Unknown(4)	bone(10)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)						ENSG00000139679						30.0	31.0	31.0					13																	48986060		2202	4300	6502	LPAR6	SO:0001583	missense	0			-	HGNC	AF000546	CCDS9410.1	13q14	2012-08-08	2009-06-23	2009-06-23	ENSG00000139679	ENSG00000139679		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	15520	protein-coding gene	gene with protein product		609239	"""purinergic receptor P2Y, G-protein coupled, 5"""	P2RY5		11004484, 9755289, 19386608	Standard	NM_005767		Approved	P2Y5	uc010acu.3	P43657	OTTHUMG00000016895	ENST00000378434.4:c.500C>A	13.37:g.48986060G>T	ENSP00000367691:p.Ala167Asp	Somatic	0	84	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	A4FTW9|B3KVF2|F2YGU4|O15133|Q3KPF5|Q53FA0|Q5VW44|Q7Z3S0|Q7Z3S6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.A167D	ENST00000378434.4	37	c.500	CCDS9410.1	13	.	.	.	.	.	.	.	.	.	.	G	14.35	2.509987	0.44660	.	.	ENSG00000139679	ENST00000378434;ENST00000345941	T;T	0.37752	1.18;1.18	5.94	5.94	0.96194	GPCR, rhodopsin-like superfamily (1);	0.266269	0.36778	N	0.002404	T	0.35856	0.0946	L	0.28192	0.835	0.44477	D	0.997418	B	0.24043	0.096	B	0.33042	0.157	T	0.13019	-1.0525	10	0.56958	D	0.05	.	20.3593	0.98849	0.0:0.0:1.0:0.0	.	167	P43657	LPAR6_HUMAN	D	167	ENSP00000367691:A167D;ENSP00000344353:A167D	ENSP00000344353:A167D	A	-	2	0	LPAR6	47884061	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.128000	0.57951	2.807000	0.96579	0.591000	0.81541	GCC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.403	LPAR6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LPAR6	protein_coding	OTTHUMT00000276280.2	G	NM_005767	-		48986060	-1	no_errors	ENST00000345941	ensembl	human	known	74_37	missense	SNP	1.000	T
FEM1A	55527	genome.wustl.edu	37	19	4794948	4794949	+	3'UTR	INS	-	-	AACCTCAC	rs3214271|rs140617521	byFrequency	TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr19:4794948_4794949insAACCTCAC	ENST00000269856.3	+	0	3221_3222				AC005523.2_ENST00000596170.1_RNA|AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)						negative regulation of inflammatory response (GO:0050728)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)	EP4 subtype prostaglandin E2 receptor binding (GO:0031867)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		TCTGCCTTGCAGTGGCCTCTGA	0.52														3201	0.639177	0.7163	0.5778	5008	,	,		18444	0.6171		0.6471	False		,,,				2504	0.593																0								ENSG00000269604																																			AC005523.2	SO:0001624	3_prime_UTR_variant	0				Clone_based_vega_gene	BC004988	CCDS12135.1	19p13.3	2013-01-10	2006-11-08		ENSG00000141965	ENSG00000141965		"""Ankyrin repeat domain containing"""	16934	protein-coding gene	gene with protein product		613538				11441184	Standard	NM_018708		Approved		uc002mbf.3	Q9BSK4		ENST00000269856.3:c.*1073->AACCTCAC	19.37:g.4794948_4794949insAACCTCAC		Somatic	NA	NA	NA		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	B2RDI3|Q711P8|Q9NPN7|Q9NPW8	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000269856.3	37	NULL	CCDS12135.1	19																																																																																			-	-		0.520	FEM1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000269604	protein_coding	OTTHUMT00000459000.1	-				4794949	-1	no_errors	ENST00000601192	ensembl	human	known	74_37	rna	INS	0.000:0.000	AACCTCAC
CDH1	999	genome.wustl.edu	37	16	68835608	68835608	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr16:68835608G>T	ENST00000261769.5	+	3	390	c.199G>T	c.(199-201)Gcc>Tcc	p.A67S	CDH1_ENST00000422392.2_Missense_Mutation_p.A67S|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	67					adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.?(2)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		ACAAAGGACAGCCTATTTTTC	0.448			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																														yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	2	Unknown(2)	breast(2)						ENSG00000039068						181.0	167.0	171.0					16																	68835608		2198	4300	6498	CDH1	SO:0001583	missense	0	Familial Cancer Database	HDGC	-	HGNC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.199G>T	16.37:g.68835608G>T	ENSP00000261769:p.Ala67Ser	Somatic	0	46	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A67S	ENST00000261769.5	37	c.199	CCDS10869.1	16	.	.	.	.	.	.	.	.	.	.	G	9.183	1.024062	0.19433	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794;ENST00000422392	T;T	0.41400	1.0;1.0	5.43	5.43	0.79202	Cadherin prodomain-like (1);Cadherin-like (1);	0.604547	0.14511	N	0.315111	T	0.43545	0.1252	L	0.34521	1.04	0.09310	N	1	B;P	0.42161	0.029;0.772	B;P	0.49387	0.044;0.609	T	0.26189	-1.0110	10	0.21540	T	0.41	.	14.6467	0.68767	0.0:0.1464:0.8536:0.0	.	67;67	Q9UII8;P12830	.;CADH1_HUMAN	S	67	ENSP00000261769:A67S;ENSP00000414946:A67S	ENSP00000261769:A67S	A	+	1	0	CDH1	67393109	0.021000	0.18746	0.706000	0.30403	0.412000	0.31113	1.971000	0.40530	2.707000	0.92482	0.561000	0.74099	GCC	-	pfam_Cadherin_pro_dom,superfamily_Cadherin-like		0.448	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	protein_coding	OTTHUMT00000268897.2	G	NM_004360	-		68835608	+1	no_errors	ENST00000261769	ensembl	human	known	74_37	missense	SNP	0.026	T
FAM230C	26080	genome.wustl.edu	37	22	21663770	21663770	+	lincRNA	SNP	G	G	A			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr22:21663770G>A	ENST00000436681.1	-	0	400																											TGTCGTGTGTGGCGTCCTCGT	0.577																																																	0								ENSG00000206142																																			KB-1183D5.13			0			-	Clone_based_vega_gene																													22.37:g.21663770G>A		Somatic	0	43	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	47	9.62		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000436681.1	37	NULL		22																																																																																			-	-		0.577	KB-1183D5.13-003	KNOWN	basic	lincRNA	FAM230C	lincRNA	OTTHUMT00000320109.1	G		-		21663770	-1	no_errors	ENST00000436681	ensembl	human	known	74_37	rna	SNP	0.996	A
DDHD1	80821	genome.wustl.edu	37	14	53619480	53619481	+	In_Frame_Ins	INS	-	-	GCCGCC	rs140904345|rs55671452|rs200797826	byFrequency	TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr14:53619480_53619481insGCCGCC	ENST00000323669.5	-	1	335_336	c.336_337insGGCGGC	c.(334-339)ggcagc>ggcGGCGGCagc	p.111_112insGG	DDHD1_ENST00000395606.1_In_Frame_Ins_p.111_112insGG|DDHD1_ENST00000357758.3_In_Frame_Ins_p.111_112insGG|AL356020.1_ENST00000584587.1_RNA|RP11-547D23.1_ENST00000554235.1_RNA	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	111					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					GACAAGGAGCTGCCGCCGCCGC	0.703														3933	0.785343	0.4962	0.8718	5008	,	,		9770	0.9673		0.833	False		,,,				2504	0.8783																0								ENSG00000100523																																			DDHD1	SO:0001652	inframe_insertion	0				HGNC	AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"""phosphatidic acid-preferring phospholipase A1"""	614603	"""spastic paraplegia 28 (autosomal recessive)"""	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.331_336dupGGCGGC	14.37:g.53619481_53619486dupGCCGCC	ENSP00000327104:p.Gly110_Gly111dup	Somatic	NA	NA	NA		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	In_Frame_Ins	INS	NA	NA	NA	NA	NA	NA	pfam_DDHD,pfscan_DDHD	p.112in_frame_insGG	ENST00000323669.5	37	c.337_336	CCDS53895.1	14																																																																																			-	NULL		0.703	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	DDHD1	protein_coding	OTTHUMT00000276901.1	-				53619481	-1	no_errors	ENST00000323669	ensembl	human	known	74_37	in_frame_ins	INS	0.234:0.997	GCCGCC
CYP27B1	1594	genome.wustl.edu	37	12	58159275	58159275	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr12:58159275C>T	ENST00000228606.4	-	3	603	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K	CYP27B1_ENST00000546496.1_5'UTR	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	132					bone mineralization (GO:0030282)|calcitriol biosynthetic process from calciol (GO:0036378)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|decidualization (GO:0046697)|G1 to G0 transition (GO:0070314)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of bone mineralization (GO:0030500)|response to estrogen (GO:0043627)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	calcidiol 1-monooxygenase activity (GO:0004498)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Alfacalcidol(DB01436)|Calcidiol(DB00146)|Corticotropin(DB01285)|Ergocalciferol(DB00153)	TGCCATTCTTCGCCTTCCCTG	0.672											OREG0021953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000111012						30.0	32.0	31.0					12																	58159275		2198	4290	6488	CYP27B1	SO:0001583	missense	0			-	HGNC	AB006987	CCDS8954.1	12q14.1	2013-11-13	2003-01-14		ENSG00000111012	ENSG00000111012		"""Cytochrome P450s"""	2606	protein-coding gene	gene with protein product	"""VDDR I"", ""1alpha(OH)ase"", ""25-Hydroxyvitamin D3 1alpha-hydroxylase"""	609506	"""cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1"""	VDD1, PDDR		9295274, 9344864	Standard	NM_000785		Approved	CYP1, P450c1	uc001spz.1	O15528	OTTHUMG00000170457	ENST00000228606.4:c.394G>A	12.37:g.58159275C>T	ENSP00000228606:p.Glu132Lys	Somatic	0	14	0.00	1028	0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	96	298	24.37	B2RC61|Q548T3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.E132K	ENST00000228606.4	37	c.394	CCDS8954.1	12	.	.	.	.	.	.	.	.	.	.	C	32	5.185180	0.94885	.	.	ENSG00000111012	ENST00000228606	T	0.70631	-0.5	5.06	4.17	0.49024	.	0.104838	0.64402	D	0.000005	T	0.64583	0.2611	L	0.37750	1.13	0.80722	D	1	P	0.42039	0.769	P	0.45449	0.481	T	0.61222	-0.7106	10	0.27785	T	0.31	.	12.3814	0.55309	0.0:0.9172:0.0:0.0828	.	132	O15528	CP27B_HUMAN	K	132	ENSP00000228606:E132K	ENSP00000228606:E132K	E	-	1	0	CYP27B1	56445542	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	7.502000	0.81614	1.354000	0.45846	0.561000	0.74099	GAA	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.672	CYP27B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP27B1	protein_coding	OTTHUMT00000409248.1	C	NM_000785	-		58159275	-1	no_errors	ENST00000228606	ensembl	human	known	74_37	missense	SNP	1.000	T
FAM230A	653203	genome.wustl.edu	37	22	20709111	20709111	+	Silent	SNP	C	C	T			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr22:20709111C>T	ENST00000434783.3	+	8	1027	c.843C>T	c.(841-843)caC>caT	p.H281H	USP41_ENST00000454608.2_Intron|USP41_ENST00000486536.2_Intron					family with sequence similarity 230, member A																		ACGCCGCCCACGGCATCGCAA	0.667																																																	0								ENSG00000188280																																			FAM230A	SO:0001819	synonymous_variant	0			-	HGNC	JX456222		22q11.21	2014-08-13			ENSG00000188280	ENSG00000188280			45045	other	unknown							Standard	XM_006724099		Approved	DGCR15			OTTHUMG00000150686	ENST00000434783.3:c.843C>T	22.37:g.20709111C>T		Somatic	0	40	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	21	36.11		Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Ret-finger_pr-like_3_antisense,superfamily_Kinase-like_dom	p.H281	ENST00000434783.3	37	c.843		22																																																																																			-	superfamily_Kinase-like_dom		0.667	FAM230A-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	FAM230A	protein_coding	OTTHUMT00000319609.4	C		-		20709111	+1	no_errors	ENST00000434783	ensembl	human	known	74_37	silent	SNP	0.001	T
OBSCN	84033	genome.wustl.edu	37	1	228509624	228509624	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr1:228509624G>T	ENST00000422127.1	+	55	15126	c.15082G>T	c.(15082-15084)Gat>Tat	p.D5028Y	OBSCN_ENST00000570156.2_Missense_Mutation_p.D5985Y|OBSCN_ENST00000366709.4_Missense_Mutation_p.D2147Y|OBSCN_ENST00000366707.4_Missense_Mutation_p.D2662Y|OBSCN_ENST00000284548.11_Missense_Mutation_p.D5028Y	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5028					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGAAGTTTCAGATGAGGAGCT	0.632																																																	0								ENSG00000154358						21.0	23.0	22.0					1																	228509624		1921	4114	6035	OBSCN	SO:0001583	missense	0			-	HGNC	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.15082G>T	1.37:g.228509624G>T	ENSP00000409493:p.Asp5028Tyr	Somatic	0	32	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	21	16.00	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.D5028Y	ENST00000422127.1	37	c.15082	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.779947	0.70222	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.66280	0.2;-0.2;-0.11;0.36	5.07	5.07	0.68467	.	0.229124	0.30219	N	0.010121	T	0.69251	0.3090	L	0.27053	0.805	0.51767	D	0.999936	D;D	0.76494	0.999;0.999	D;D	0.68483	0.909;0.958	T	0.72104	-0.4391	10	0.52906	T	0.07	.	18.4625	0.90745	0.0:0.0:1.0:0.0	.	5028;5028	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	Y	5028;5028;2662;2147	ENSP00000284548:D5028Y;ENSP00000409493:D5028Y;ENSP00000355668:D2662Y;ENSP00000355670:D2147Y	ENSP00000284548:D5028Y	D	+	1	0	OBSCN	226576247	1.000000	0.71417	0.035000	0.18076	0.075000	0.17131	6.624000	0.74243	2.359000	0.80004	0.655000	0.94253	GAT	-	NULL		0.632	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	protein_coding		G	NM_052843	-		228509624	+1	no_errors	ENST00000422127	ensembl	human	known	74_37	missense	SNP	0.992	T
GOLGA6L2	283685	genome.wustl.edu	37	15	23686031	23686031	+	Missense_Mutation	SNP	T	T	C	rs75983100		TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr15:23686031T>C	ENST00000567107.1	-	8	1643	c.1591A>G	c.(1591-1593)Aag>Gag	p.K531E	GOLGA6L2_ENST00000312015.5_Missense_Mutation_p.K531E|GOLGA6L2_ENST00000345070.5_Missense_Mutation_p.K258E			Q8N9W4	GG6L2_HUMAN	golgin A6 family-like 2	531	Glu-rich.							p.K531E(3)		breast(1)|endometrium(7)	8						cacatcttcttctcctgcccc	0.582																																																	3	Substitution - Missense(3)	endometrium(3)						ENSG00000174450																																			GOLGA6L2	SO:0001583	missense	0			-	HGNC	AK093463		15q11.2	2012-10-05	2010-02-12		ENSG00000174450	ENSG00000174450			26695	protein-coding gene	gene with protein product	"""cancer/testis antigen 105"""		"""golgi autoantigen, golgin subfamily a, 6-like 2"""				Standard	XM_002343322		Approved	CT105, FLJ36144	uc021sfy.1	Q8N9W4	OTTHUMG00000176417	ENST00000567107.1:c.1591A>G	15.37:g.23686031T>C	ENSP00000454407:p.Lys531Glu	Somatic	0	31	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	23	28.12	A1L301	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	prints_Tropomyosin	p.K531E	ENST00000567107.1	37	c.1591		15	.	.	.	.	.	.	.	.	.	.	N	0.016	-1.521059	0.00967	.	.	ENSG00000174450	ENST00000345070;ENST00000312015	T;T	0.46451	0.87;2.84	.	.	.	.	.	.	.	.	T	0.14787	0.0357	.	.	.	0.09310	N	1	B	0.17038	0.02	B	0.12156	0.007	T	0.29027	-1.0025	6	0.02654	T	1	.	.	.	.	.	531	Q8N9W4	GG6L2_HUMAN	E	258;531	ENSP00000344626:K258E;ENSP00000307928:K531E	ENSP00000307928:K531E	K	-	1	0	GOLGA6L2	21237124	0.001000	0.12720	0.001000	0.08648	0.000000	0.00434	-1.378000	0.02556	-0.437000	0.07243	0.000000	0.15137	AAG	-	NULL		0.582	GOLGA6L2-002	PUTATIVE	basic|appris_candidate_longest	protein_coding	GOLGA6L2	protein_coding	OTTHUMT00000431937.1	T	NM_182561	rs75983100		23686031	-1	no_errors	ENST00000312015	ensembl	human	known	74_37	missense	SNP	0.001	C
MUT	4594	genome.wustl.edu	37	6	49427080	49427080	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr6:49427080G>A	ENST00000274813.3	-	2	227	c.100C>T	c.(100-102)Cac>Tac	p.H34Y		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	34					cellular lipid metabolic process (GO:0044255)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|homocysteine metabolic process (GO:0050667)|post-embryonic development (GO:0009791)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)|methylmalonyl-CoA mutase activity (GO:0004494)|modified amino acid binding (GO:0072341)			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGTTGCTGGTGTAGAAGTCGT	0.478																																																	0								ENSG00000146085						118.0	116.0	117.0					6																	49427080		2203	4300	6503	MUT	SO:0001583	missense	0			-	HGNC		CCDS4924.1	6p21	2012-10-02	2010-04-30		ENSG00000146085	ENSG00000146085	5.4.99.2		7526	protein-coding gene	gene with protein product		609058	"""methylmalonyl Coenzyme A mutase"""			2907507, 9503014	Standard	NM_000255		Approved		uc003ozg.4	P22033	OTTHUMG00000014814	ENST00000274813.3:c.100C>T	6.37:g.49427080G>A	ENSP00000274813:p.His34Tyr	Somatic	0	26	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	25	24.24	A8K953|Q5SYZ3|Q96B11|Q9UD64	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_MeMalonylCoA_mutase_a/b_cat,pfam_Cobalamin-bd,superfamily_Cbl-dep_enz_cat,superfamily_Cobalamin-bd,tigrfam_MMCoA_mutase_a_cat,tigrfam_Acid_CoA_mut_C	p.H34Y	ENST00000274813.3	37	c.100	CCDS4924.1	6	.	.	.	.	.	.	.	.	.	.	G	10.88	1.474417	0.26423	.	.	ENSG00000146085	ENST00000274813	D	0.97850	-4.57	5.38	4.51	0.55191	Cobalamin (vitamin B12)-dependent enzyme, catalytic (1);	0.295869	0.37483	N	0.002075	D	0.86965	0.6060	N	0.08118	0	0.38104	D	0.937358	B	0.02656	0.0	B	0.01281	0.0	T	0.82018	-0.0665	10	0.15499	T	0.54	-18.3439	11.5829	0.50902	0.0823:0.0:0.9177:0.0	.	34	P22033	MUTA_HUMAN	Y	34	ENSP00000274813:H34Y	ENSP00000274813:H34Y	H	-	1	0	MUT	49535039	1.000000	0.71417	0.962000	0.40283	0.869000	0.49853	3.873000	0.56093	1.408000	0.46895	0.655000	0.94253	CAC	-	superfamily_Cbl-dep_enz_cat		0.478	MUT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUT	protein_coding	OTTHUMT00000040854.1	G		-		49427080	-1	no_errors	ENST00000274813	ensembl	human	known	74_37	missense	SNP	0.994	A
COL4A1	1282	genome.wustl.edu	37	13	110815884	110815884	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr13:110815884delG	ENST00000375820.4	-	47	4296	c.4175delC	c.(4174-4176)cctfs	p.P1392fs	COL4A1_ENST00000467182.1_5'Flank	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1392	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TGGAGGTCCAGGTATACCCAC	0.488																																																	0								ENSG00000187498						50.0	44.0	46.0					13																	110815884		2203	4300	6503	COL4A1	SO:0001589	frameshift_variant	0				HGNC	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.4175delC	13.37:g.110815884delG	ENSP00000364979:p.Pro1392fs	Somatic	0	38	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	10	16.67	A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.P1392fs	ENST00000375820.4	37	c.4175	CCDS9511.1	13																																																																																			-	pfam_Collagen		0.488	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A1	protein_coding	OTTHUMT00000045759.3	G				110815884	-1	no_errors	ENST00000375820	ensembl	human	known	74_37	frame_shift_del	DEL	0.997	-
TRAF7	84231	genome.wustl.edu	37	16	2220714	2220716	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	GAG	GAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr16:2220714_2220716delGAG	ENST00000326181.6	+	5	463_465	c.331_333delGAG	c.(331-333)gagdel	p.E115del		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	115					activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of MAPK cascade (GO:0043410)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic vesicle (GO:0031410)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						CTCACTGCCCGAGGAGGAGGAGG	0.69																																																	0								ENSG00000131653																																			TRAF7	SO:0001651	inframe_deletion	0				HGNC	AL136921	CCDS10461.1	16p13.3	2013-01-10	2012-02-23	2004-06-04	ENSG00000131653	ENSG00000131653		"""RING-type (C3HC4) zinc fingers"", ""WD repeat domain containing"""	20456	protein-coding gene	gene with protein product		606692	"""ring finger and WD repeat domain 1"", ""TNF receptor-associated factor 7"""	RFWD1		11230166, 15001576	Standard	NM_032271		Approved	RNF119, DKFZp586I021, MGC7807	uc002cow.3	Q6Q0C0	OTTHUMG00000128826	ENST00000326181.6:c.331_333delGAG	16.37:g.2220723_2220725delGAG	ENSP00000318944:p.Glu115del	Somatic	0	32	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	15	16.67	Q9H073	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_TRAF-like,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING,pfscan_Znf_TRAF,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.E114in_frame_del	ENST00000326181.6	37	c.331_333	CCDS10461.1	16																																																																																			-	NULL		0.690	TRAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF7	protein_coding	OTTHUMT00000250762.1	GAG	NM_032271			2220716	+1	no_errors	ENST00000326181	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000	-
HSD17B6	8630	genome.wustl.edu	37	12	57167840	57167840	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr12:57167840G>T	ENST00000554643.1	+	3	553	c.204G>T	c.(202-204)caG>caT	p.Q68H	HSD17B6_ENST00000555805.1_Missense_Mutation_p.Q68H|HSD17B6_ENST00000555159.1_Missense_Mutation_p.Q68H|HSD17B6_ENST00000554150.1_Missense_Mutation_p.Q68H|HSD17B6_ENST00000322165.1_Missense_Mutation_p.Q68H			O14756	H17B6_HUMAN	hydroxysteroid (17-beta) dehydrogenase 6	68					androgen biosynthetic process (GO:0006702)|androgen catabolic process (GO:0006710)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|intracellular (GO:0005622)|membrane (GO:0016020)	catalytic activity (GO:0003824)|electron carrier activity (GO:0009055)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|oxidoreductase activity (GO:0016491)|retinol dehydrogenase activity (GO:0004745)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10					Succinic acid(DB00139)	GGGCCGAGCAGCTGAGGGGCC	0.622																																																	0								ENSG00000025423						59.0	60.0	60.0					12																	57167840		2203	4300	6503	HSD17B6	SO:0001583	missense	0			-	HGNC	AF016509	CCDS8925.1	12q13.3	2012-12-07	2012-12-07		ENSG00000025423	ENSG00000025423	1.1.1.62, 1.1.1.63, 1.1.1.105	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	23316	protein-coding gene	gene with protein product	"""oxidative 3-alpha-hydroxysteroid-dehydrogenase"", ""3(alpha->beta)-hydroxysteroid epimerasel"", ""retinol dehydrogenase"", ""oxidoreductase"", ""NAD+ -dependent 3 alpha-hydroxysteroid dehydrogenase"", ""3-hydroxysteroid epimerase"", ""short chain dehydrogenase/reductase family 9C, member 6"""	606623	"""hydroxysteroid (17-beta) dehydrogenase 6"", ""hydroxysteroid (17-beta) dehydrogenase 6 homolog (mouse)"""			11165032, 19027726	Standard	XM_005269207		Approved	HSE, RODH, SDR9C6	uc001smg.1	O14756	OTTHUMG00000170854	ENST00000554643.1:c.204G>T	12.37:g.57167840G>T	ENSP00000451406:p.Gln68His	Somatic	0	37	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	143	25	85.12	O43275	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.Q68H	ENST00000554643.1	37	c.204	CCDS8925.1	12	.	.	.	.	.	.	.	.	.	.	G	11.81	1.751137	0.31046	.	.	ENSG00000025423	ENST00000555159;ENST00000555805;ENST00000554643;ENST00000556650;ENST00000554150;ENST00000554155;ENST00000322165	D;D;D;T;D;D;D	0.88124	-2.34;-2.34;-2.34;-0.57;-2.34;-2.34;-2.34	5.08	3.25	0.37280	NAD(P)-binding domain (1);	1.000740	0.08065	N	0.998820	D	0.82393	0.5027	N	0.11892	0.195	0.20764	N	0.99985	B	0.30361	0.277	B	0.43123	0.409	T	0.74362	-0.3690	10	0.66056	D	0.02	.	8.562	0.33516	0.2508:0.0:0.7492:0.0	.	68	O14756	H17B6_HUMAN	H	68	ENSP00000450698:Q68H;ENSP00000451753:Q68H;ENSP00000451406:Q68H;ENSP00000452103:Q68H;ENSP00000452273:Q68H;ENSP00000451497:Q68H;ENSP00000318631:Q68H	ENSP00000318631:Q68H	Q	+	3	2	HSD17B6	55454107	0.998000	0.40836	0.883000	0.34634	0.075000	0.17131	0.939000	0.28978	0.846000	0.35142	0.655000	0.94253	CAG	-	pfam_DH_sc/Rdtase_SDR		0.622	HSD17B6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HSD17B6	protein_coding	OTTHUMT00000410714.1	G	NM_003725	-		57167840	+1	no_errors	ENST00000322165	ensembl	human	known	74_37	missense	SNP	0.873	T
PAPD7	11044	genome.wustl.edu	37	5	6755013	6755014	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	AC	AC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr5:6755013_6755014delAC	ENST00000230859.6	+	13	1713_1714	c.1584_1585delAC	c.(1582-1587)aaacacfs	p.H529fs		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	759					double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GGAGGAAAAAACACACACACAC	0.653																																					NSCLC(7;212 333 5667 23379 46547)												0								ENSG00000112941																																			PAPD7	SO:0001589	frameshift_variant	0				HGNC	AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"""topoisomerase-related function protein 4-1"", ""polymerase (DNA-directed) sigma"", ""DNA polymerase kappa"", ""TUTase5"""	605198	"""polymerase (DNA directed) sigma"""	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.1584_1585delAC	5.37:g.6755023_6755024delAC	ENSP00000230859:p.His529fs	Somatic	0	18	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	22	15.38	A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_PAP_assoc,pfam_Nucleotidyltransferase	p.T532fs	ENST00000230859.6	37	c.1584_1585	CCDS3871.1	5																																																																																			-	NULL		0.653	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPD7	protein_coding	OTTHUMT00000206904.1	AC	NM_006999			6755014	+1	no_errors	ENST00000230859	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000	-
SLC14A2	8170	genome.wustl.edu	37	18	43246109	43246109	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr18:43246109delA	ENST00000255226.6	+	12	2298	c.1482delA	c.(1480-1482)ggafs	p.G494fs	SLC14A2_ENST00000586448.1_Frame_Shift_Del_p.G494fs|SLC14A2_ENST00000589658.1_5'UTR	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	494					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CAGTGTTTGGAAAAGGCGAAC	0.483											OREG0024946	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000132874						141.0	113.0	123.0					18																	43246109		2203	4300	6503	SLC14A2	SO:0001589	frameshift_variant	0				HGNC	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.1482delA	18.37:g.43246109delA	ENSP00000255226:p.Gly494fs	Somatic	0	31	0.00	914	0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	18	10.00	A8K8Q7|Q2TBD6|Q96PH5	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Urea_transporter	p.G496fs	ENST00000255226.6	37	c.1482	CCDS11924.1	18																																																																																			-	NULL		0.483	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC14A2	protein_coding	OTTHUMT00000255858.1	A				43246109	+1	no_errors	ENST00000255226	ensembl	human	known	74_37	frame_shift_del	DEL	0.507	-
DNM1P47	100216544	genome.wustl.edu	37	15	102294715	102294715	+	RNA	SNP	C	C	T	rs377395363		TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr15:102294715C>T	ENST00000561463.1	+	0	2761									DNM1 pseudogene 47																		AGCAGGCAGACCAAGGAGTTC	0.587																																																	0								ENSG00000259660																																			DNM1P47			0			-	HGNC	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102294715C>T		Somatic	0	14	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	16	33.33		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000561463.1	37	NULL		15																																																																																			-	-		0.587	DNM1P47-001	KNOWN	basic	processed_transcript	DNM1P47	pseudogene	OTTHUMT00000417589.1	C	NG_009149	-		102294715	+1	no_errors	ENST00000561463	ensembl	human	known	74_37	rna	SNP	1.000	T
RUVBL1	8607	genome.wustl.edu	37	3	127820493	127820494	+	Splice_Site	INS	-	-	A	rs111737766		TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr3:127820493_127820494insA	ENST00000322623.5	-	5	613		c.e5-2		RUVBL1_ENST00000464873.1_Splice_Site|RUVBL1_ENST00000417360.1_Splice_Site	NM_003707.2	NP_003698.1	Q9Y265	RUVB1_HUMAN	RuvB-like AAA ATPase 1						CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Ino80 complex (GO:0031011)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)	p.?(2)		endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		GGGGTCCAGCTAAAAAAAAAAA	0.426																																																	2	Unknown(2)	ovary(1)|prostate(1)						ENSG00000175792																																			RUVBL1	SO:0001630	splice_region_variant	0				HGNC	AF070735	CCDS3047.1	3q21	2013-09-12	2013-09-12		ENSG00000175792	ENSG00000175792		"""INO80 complex subunits"", ""ATPases / AAA-type"""	10474	protein-coding gene	gene with protein product	"""pontin"", ""INO80 complex subunit H"""	603449	"""RuvB (E coli homolog)-like 1"", ""RuvB-like 1 (E. coli)"", ""RuvB-like AAA ATPase"""			9774387, 9588198	Standard	NM_003707		Approved	TIP49, NMP238, RVB1, TIP49a, Pontin52, ECP54, TIH1, Rvb1, INO80H	uc003ekh.3	Q9Y265	OTTHUMG00000159658	ENST00000322623.5:c.514-2->T	3.37:g.127820504_127820504dupA		Somatic	0	23	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	27	12.90	B2R5S0|P82276|Q1KMR0|Q53HK5|Q53HL7|Q53Y27|Q9BSX9	Splice_Site	INS	NA	NA	NA	NA	NA	NA	-	e5-2	ENST00000322623.5	37	c.514-3_514-2	CCDS3047.1	3																																																																																			-	-		0.426	RUVBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RUVBL1	protein_coding	OTTHUMT00000356728.2	-			Intron	127820494	-1	no_errors	ENST00000322623	ensembl	human	known	74_37	splice_site_ins	INS	1.000:0.000	A
TVP23C	201158	genome.wustl.edu	37	17	15441452	15441452	+	Intron	SNP	G	G	C			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr17:15441452G>C	ENST00000225576.3	-	5	558				TVP23C_ENST00000438826.3_Missense_Mutation_p.Q203E|TVP23C_ENST00000584811.1_Missense_Mutation_p.Q139E|TVP23C_ENST00000519970.1_Intron|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000428082.2_Missense_Mutation_p.Q203E|TVP23C_ENST00000583206.1_5'Flank	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)							integral component of membrane (GO:0016021)											CAGGAAGTCTGATCATCTCCA	0.413																																																	0								ENSG00000175106																																			TVP23C	SO:0001627	intron_variant	0			-	HGNC	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B2"""	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.462+7646C>G	17.37:g.15441452G>C		Somatic	0	118	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	103	10.43	Q3LIC7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DUF846_euk	p.Q203E	ENST00000225576.3	37	c.607	CCDS11170.1	17	.	.	.	.	.	.	.	.	.	.	.	10.15	1.271535	0.23221	.	.	ENSG00000175106	ENST00000438826	T	0.28895	1.59	4.5	4.5	0.54988	.	.	.	.	.	T	0.18299	0.0439	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.03068	-1.1076	6	0.02654	T	1	.	12.8715	0.57968	0.0:0.0:1.0:0.0	.	.	.	.	E	203	ENSP00000413355:Q203E	ENSP00000413355:Q203E	Q	-	1	0	FAM18B2	15382177	0.995000	0.38212	0.984000	0.44739	0.666000	0.39218	4.022000	0.57203	2.474000	0.83562	0.585000	0.79938	CAG	-	NULL		0.413	TVP23C-001	KNOWN	basic|CCDS	protein_coding	TVP23C	protein_coding	OTTHUMT00000130705.2	G	NM_145301	-		15441452	-1	no_errors	ENST00000428082	ensembl	human	novel	74_37	missense	SNP	0.997	C
C19orf68	374920	genome.wustl.edu	37	19	48685631	48685631	+	Intron	DEL	A	A	-			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr19:48685631delA	ENST00000328759.7	+	3	307				ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000600800.1_5'UTR			Q86XI8	CS068_HUMAN	chromosome 19 open reading frame 68						hematopoietic progenitor cell differentiation (GO:0002244)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)											TTCTTAGTTTAAAAAAAAAAA	0.512																																																	0								ENSG00000105483																																			CARD8	SO:0001627	intron_variant	0				HGNC	BC043386	CCDS74411.1	19q13.32	2008-08-06			ENSG00000185453	ENSG00000185453			34495	protein-coding gene	gene with protein product						12477932	Standard	NM_199341		Approved	LOC374920	uc002pic.3	Q86XI8		ENST00000328759.7:c.276-81A>-	19.37:g.48685631delA		Somatic	0	19	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	12	25.00		RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000328759.7	37	NULL		19																																																																																			-	-		0.512	C19orf68-001	KNOWN	non_canonical_other|basic|appris_principal	protein_coding	CARD8	protein_coding	OTTHUMT00000465598.1	A	XM_001713770			48685631	-1	no_errors	ENST00000600800	ensembl	human	known	74_37	rna	DEL	0.000	-
OR1F1	4992	genome.wustl.edu	37	16	3254696	3254696	+	Silent	SNP	G	G	T			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr16:3254696G>T	ENST00000304646.2	+	1	450	c.450G>T	c.(448-450)gtG>gtT	p.V150V	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	150					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						GATTATGGGTGGTTGCCAACC	0.532																																																	0								ENSG00000168124						169.0	131.0	144.0					16																	3254696		2197	4300	6497	OR1F1	SO:0001819	synonymous_variant	0			-	HGNC	Y14442	CCDS10496.1	16p13.3	2012-08-09			ENSG00000168124	ENSG00000168124		"""GPCR / Class A : Olfactory receptors"""	8194	protein-coding gene	gene with protein product		603232		OR1F4, OR1F6, OR1F7, OR1F8, OR1F9, OR1F5, OR1F10, OR1F13P		9288094, 9500546	Standard	NM_012360		Approved	Olfmf, OR16-36, OR16-37, OR16-88, OR16-89, OR16-90, OLFMF, OR3-145	uc010uwu.2	O43749	OTTHUMG00000133153	ENST00000304646.2:c.450G>T	16.37:g.3254696G>T		Somatic	0	25	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	15	42.31	O15246|Q6IFL5	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V150	ENST00000304646.2	37	c.450	CCDS10496.1	16																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.532	OR1F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1F1	protein_coding	OTTHUMT00000206985.1	G		-		3254696	+1	no_errors	ENST00000304646	ensembl	human	known	74_37	silent	SNP	0.000	T
RELB	5971	genome.wustl.edu	37	19	45525438	45525438	+	Missense_Mutation	SNP	G	G	A	rs55723886		TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr19:45525438G>A	ENST00000221452.8	+	5	782	c.632G>A	c.(631-633)cGg>cAg	p.R211Q	RELB_ENST00000540120.1_Missense_Mutation_p.R211Q|RELB_ENST00000505236.1_Missense_Mutation_p.R208Q	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	211	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				antigen processing and presentation (GO:0019882)|circadian regulation of gene expression (GO:0032922)|myeloid dendritic cell differentiation (GO:0043011)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of gene expression (GO:0010628)|T-helper 1 cell differentiation (GO:0045063)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		TGCAGGGTGCGGCTCCGGCCT	0.647																																																	0								ENSG00000104856	G	GLN/ARG	0,4150		0,0,2075	43.0	50.0	48.0		632	4.7	1.0	19	dbSNP_129	48	1,8415		0,1,4207	no	missense	RELB	NM_006509.3	43	0,1,6282	AA,AG,GG		0.0119,0.0,0.0080	probably-damaging	211/580	45525438	1,12565	2075	4208	6283	RELB	SO:0001583	missense	0			-	HGNC	M83221	CCDS46110.1	19q13.32	2013-07-09	2013-07-09		ENSG00000104856	ENSG00000104856			9956	protein-coding gene	gene with protein product		604758	"""v-rel avian reticuloendotheliosis viral oncogene homolog B (nuclear factor of kappa light polypeptide gene enhancer in B-cells 3)"""			1531086	Standard	NM_006509		Approved	REL-B	uc021uvp.1	Q01201	OTTHUMG00000162116	ENST00000221452.8:c.632G>A	19.37:g.45525438G>A	ENSP00000221452:p.Arg211Gln	Somatic	0	31	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	30	18.92	Q6GTX7|Q9UEI7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NF_Rel_Dor	p.R211Q	ENST00000221452.8	37	c.632	CCDS46110.1	19	.	.	.	.	.	.	.	.	.	.	G	21.1	4.098603	0.76870	0.0	1.19E-4	ENSG00000104856	ENST00000221452;ENST00000540120;ENST00000505236	T;T;T	0.41065	1.01;1.01;1.01	4.74	4.74	0.60224	.	0.363608	0.25386	N	0.031049	T	0.35335	0.0928	L	0.28014	0.82	0.26734	N	0.970539	D	0.67145	0.996	P	0.47744	0.556	T	0.21621	-1.0240	10	0.51188	T	0.08	-10.885	11.0129	0.47673	0.0:0.1884:0.8116:0.0	rs55723886	208	D6R992	.	Q	211;211;208	ENSP00000221452:R211Q;ENSP00000445542:R211Q;ENSP00000423287:R208Q	ENSP00000221452:R211Q	R	+	2	0	RELB	50217278	0.057000	0.20700	0.999000	0.59377	0.946000	0.59487	0.890000	0.28295	2.449000	0.82847	0.462000	0.41574	CGG	-	pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD		0.647	RELB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELB	protein_coding	OTTHUMT00000367361.2	G		rs55723886		45525438	+1	no_errors	ENST00000221452	ensembl	human	known	74_37	missense	SNP	0.995	A
GOLGA6L2	283685	genome.wustl.edu	37	15	23686010	23686011	+	In_Frame_Ins	INS	-	-	CTC			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr15:23686010_23686011insCTC	ENST00000567107.1	-	8	1663_1664	c.1611_1612insGAG	c.(1609-1614)gagaag>gagGAGaag	p.537_538insE	GOLGA6L2_ENST00000312015.5_In_Frame_Ins_p.537_538insE|GOLGA6L2_ENST00000345070.5_In_Frame_Ins_p.264_265insE			Q8N9W4	GG6L2_HUMAN	golgin A6 family-like 2	537	Glu-rich.									breast(1)|endometrium(7)	8						tcccgcatcttctcctgccgcc	0.579																																																	0								ENSG00000174450																																			GOLGA6L2	SO:0001652	inframe_insertion	0				HGNC	AK093463		15q11.2	2012-10-05	2010-02-12		ENSG00000174450	ENSG00000174450			26695	protein-coding gene	gene with protein product	"""cancer/testis antigen 105"""		"""golgi autoantigen, golgin subfamily a, 6-like 2"""				Standard	XM_002343322		Approved	CT105, FLJ36144	uc021sfy.1	Q8N9W4	OTTHUMG00000176417	ENST00000567107.1:c.1609_1611dupGAG	15.37:g.23686011_23686013dupCTC	ENSP00000454407:p.Glu537_Glu537dup	Somatic	0	25	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	29	14.71	A1L301	In_Frame_Ins	INS	NA	NA	NA	NA	NA	NA	prints_Tropomyosin	p.537in_frame_insE	ENST00000567107.1	37	c.1612_1611		15																																																																																			-	NULL		0.579	GOLGA6L2-002	PUTATIVE	basic|appris_candidate_longest	protein_coding	GOLGA6L2	protein_coding	OTTHUMT00000431937.1	-	NM_182561			23686011	-1	no_errors	ENST00000312015	ensembl	human	known	74_37	in_frame_ins	INS	0.002:0.005	CTC
TMPRSS5	80975	genome.wustl.edu	37	11	113565326	113565326	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr11:113565326C>T	ENST00000299882.5	-	8	807	c.659G>A	c.(658-660)gGt>gAt	p.G220D	TMPRSS5_ENST00000545579.1_Missense_Mutation_p.G211D|TMPRSS5_ENST00000540540.1_De_novo_Start_OutOfFrame|TMPRSS5_ENST00000536856.1_De_novo_Start_OutOfFrame|TMPRSS5_ENST00000538955.1_Missense_Mutation_p.G176D|TMPRSS5_ENST00000545265.1_5'Flank|TMPRSS5_ENST00000544634.1_Intron|TMPRSS5_ENST00000544476.1_Intron	NM_030770.2	NP_110397.2	Q9H3S3	TMPS5_HUMAN	transmembrane protease, serine 5	220	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	peptidase activity (GO:0008233)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10		all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502)		AGACTGCCCACCAACTATCCG	0.642																																																	0								ENSG00000166682						11.0	16.0	14.0					11																	113565326		1935	4044	5979	TMPRSS5	SO:0001583	missense	0			-	HGNC	AB028140	CCDS44735.1, CCDS73390.1, CCDS73391.1, CCDS73392.1, CCDS73393.1	11q	2010-04-13	2008-07-31		ENSG00000166682	ENSG00000166682		"""Serine peptidases / Transmembrane"""	14908	protein-coding gene	gene with protein product	"""spinesin"""	606751					Standard	NM_030770		Approved	MGC141886, MGC148044	uc001poc.4	Q9H3S3	OTTHUMG00000168186	ENST00000299882.5:c.659G>A	11.37:g.113565326C>T	ENSP00000299882:p.Gly220Asp	Somatic	0	60	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	17	15.00		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.G220D	ENST00000299882.5	37	c.659	CCDS44735.1	11	.	.	.	.	.	.	.	.	.	.	C	18.03	3.531561	0.64972	.	.	ENSG00000166682	ENST00000299882;ENST00000545579;ENST00000538955	T;T;T	0.68624	-0.34;-0.34;-0.34	4.53	4.53	0.55603	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.64402	D	0.000001	D	0.84270	0.5435	M	0.88310	2.945	0.80722	D	1	D;P	0.89917	1.0;0.954	D;P	0.91635	0.999;0.833	D	0.88063	0.2795	10	0.87932	D	0	.	16.0656	0.80867	0.0:1.0:0.0:0.0	.	211;220	F5GX83;Q9H3S3	.;TMPS5_HUMAN	D	220;211;176	ENSP00000299882:G220D;ENSP00000441104:G211D;ENSP00000445528:G176D	ENSP00000299882:G220D	G	-	2	0	TMPRSS5	113070536	1.000000	0.71417	0.446000	0.26920	0.345000	0.29048	6.659000	0.74412	2.065000	0.61736	0.205000	0.17691	GGT	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.642	TMPRSS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS5	protein_coding	OTTHUMT00000398652.1	C	NM_030770	-		113565326	-1	no_errors	ENST00000299882	ensembl	human	known	74_37	missense	SNP	0.982	T
GOLGA6L2	283685	genome.wustl.edu	37	15	23686019	23686019	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr15:23686019G>C	ENST00000567107.1	-	8	1655	c.1603C>G	c.(1603-1605)Cgg>Ggg	p.R535G	GOLGA6L2_ENST00000312015.5_Missense_Mutation_p.R535G|GOLGA6L2_ENST00000345070.5_Missense_Mutation_p.R262G			Q8N9W4	GG6L2_HUMAN	golgin A6 family-like 2	535	Glu-rich.			RQ -> QE (in Ref. 1; BAC04173). {ECO:0000305}.				p.R535G(3)		breast(1)|endometrium(7)	8						ttctcctgccgccacatcttc	0.582																																																	3	Substitution - Missense(3)	endometrium(3)						ENSG00000174450																																			GOLGA6L2	SO:0001583	missense	0			-	HGNC	AK093463		15q11.2	2012-10-05	2010-02-12		ENSG00000174450	ENSG00000174450			26695	protein-coding gene	gene with protein product	"""cancer/testis antigen 105"""		"""golgi autoantigen, golgin subfamily a, 6-like 2"""				Standard	XM_002343322		Approved	CT105, FLJ36144	uc021sfy.1	Q8N9W4	OTTHUMG00000176417	ENST00000567107.1:c.1603C>G	15.37:g.23686019G>C	ENSP00000454407:p.Arg535Gly	Somatic	0	26	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	27	18.18	A1L301	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	prints_Tropomyosin	p.R535G	ENST00000567107.1	37	c.1603		15	.	.	.	.	.	.	.	.	.	.	N	0.063	-1.219634	0.01542	.	.	ENSG00000174450	ENST00000345070;ENST00000312015	T;T	0.47869	0.83;2.81	.	.	.	.	.	.	.	.	T	0.32376	0.0827	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25012	-1.0144	4	0.22109	T	0.4	.	.	.	.	.	.	.	.	G	262;535	ENSP00000344626:R262G;ENSP00000307928:R535G	ENSP00000307928:R535G	R	-	1	2	GOLGA6L2	21237112	0.000000	0.05858	0.013000	0.15412	0.000000	0.00434	-2.177000	0.01261	0.482000	0.27582	0.000000	0.15137	CGG	-	NULL		0.582	GOLGA6L2-002	PUTATIVE	basic|appris_candidate_longest	protein_coding	GOLGA6L2	protein_coding	OTTHUMT00000431937.1	G	NM_182561	-		23686019	-1	no_errors	ENST00000312015	ensembl	human	known	74_37	missense	SNP	0.014	C
EVPLL	645027	genome.wustl.edu	37	17	18291433	18291438	+	Intron	DEL	CACAGC	CACAGC	-	rs140944304	byFrequency	TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	CACAGC	CACAGC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr17:18291433_18291438delCACAGC	ENST00000399134.4	+	10	1234				EVPLL_ENST00000583003.1_Intron|RP1-37N7.1_ENST00000579352.1_RNA	NM_001145127.1	NP_001138599.1	A8MZ36	EVPLL_HUMAN	envoplakin-like											NS(1)|endometrium(1)|large_intestine(1)|lung(2)	5						tttaattaatcacagccaaccctcaa	0.335														2505	0.5002	0.7262	0.5375	5008	,	,		11867	0.1925		0.5517	False		,,,				2504	0.4325																0								ENSG00000264177																																			RP1-37N7.1	SO:0001627	intron_variant	0				Clone_based_vega_gene		CCDS45626.1	17p11.2	2009-08-25			ENSG00000214860	ENSG00000214860			35236	protein-coding gene	gene with protein product							Standard	NM_001145127		Approved		uc002gte.3	A8MZ36	OTTHUMG00000059095	ENST00000399134.4:c.877-95CACAGC>-	17.37:g.18291433_18291438delCACAGC		Somatic	NA	NA	NA		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	B4DPD4	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000399134.4	37	NULL	CCDS45626.1	17																																																																																			-	-		0.335	EVPLL-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	LOC101928729	protein_coding	OTTHUMT00000130836.2	CACAGC	NM_001145127			18291438	-1	no_errors	ENST00000579352	ensembl	human	known	74_37	rna	DEL	0.100:0.098:0.095:0.091:0.087:0.081	-
HEBP1	50865	genome.wustl.edu	37	12	13153388	13153389	+	5'Flank	INS	-	-	GCAGCAGTCCAGCAGTGCAGCAGT	rs147879664|rs77117939	byFrequency	TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr12:13153388_13153389insGCAGCAGTCCAGCAGTGCAGCAGT	ENST00000014930.4	-	0	0				RP11-377D9.3_ENST00000543321.1_lincRNA|HEBP1_ENST00000536942.1_5'Flank	NM_015987.4	NP_057071.2	Q9NRV9	HEBP1_HUMAN	heme binding protein 1						circadian rhythm (GO:0007623)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	heme binding (GO:0020037)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		CGGgcagcagggcagcagtgca	0.748														1685	0.336462	0.0787	0.4366	5008	,	,		10542	0.2222		0.5487	False		,,,				2504	0.5133																0								ENSG00000255621																																			RP11-377D9.3	SO:0001631	upstream_gene_variant	0				Clone_based_vega_gene	AF117615	CCDS31749.1	12p13.2	2014-01-30			ENSG00000013583	ENSG00000013583		"""Endogenous ligands"""	17176	protein-coding gene	gene with protein product		605826				10640688	Standard	NM_015987		Approved	HEBP, HBP	uc001rbd.3	Q9NRV9	OTTHUMG00000168771		12.37:g.13153388_13153389insGCAGCAGTCCAGCAGTGCAGCAGT	Exception_encountered	Somatic	NA	NA	NA		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	A8K1G2|Q9Y5Z5	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000014930.4	37	NULL	CCDS31749.1	12																																																																																			-	-		0.748	HEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000255621	protein_coding	OTTHUMT00000401001.1	-				13153389	+1	no_errors	ENST00000543321	ensembl	human	known	74_37	rna	INS	0.055:0.003	GCAGCAGTCCAGCAGTGCAGCAGT
GPC1	2817	genome.wustl.edu	37	2	241402832	241402832	+	Frame_Shift_Del	DEL	C	C	-	rs140137064		TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr2:241402832delC	ENST00000264039.2	+	4	1034	c.786delC	c.(784-786)gtcfs	p.V262fs		NM_002081.2	NP_002072.2	P35052	GPC1_HUMAN	glypican 1	262					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan catabolic process (GO:0030200)|myelin assembly (GO:0032288)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|phototransduction, visible light (GO:0007603)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|retinoid metabolic process (GO:0001523)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|fibroblast growth factor binding (GO:0017134)|laminin binding (GO:0043236)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		GCCTGGGAGTCCCCGGCGCCA	0.667																																																	0								ENSG00000063660						80.0	84.0	82.0					2																	241402832		2203	4300	6503	GPC1	SO:0001589	frameshift_variant	0				HGNC	AK095397	CCDS2534.1	2q35-q37	2008-02-05			ENSG00000063660	ENSG00000063660		"""Proteoglycans / Cell Surface : Glypicans"""	4449	protein-coding gene	gene with protein product	"""glypican proteoglycan 1"""	600395				7774946	Standard	NM_002081		Approved	glypican	uc002vyw.4	P35052	OTTHUMG00000133349	ENST00000264039.2:c.786delC	2.37:g.241402832delC	ENSP00000264039:p.Val262fs	Somatic	0	69	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	23	8.00	B3KTD1|Q53QM4	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Glypican	p.G264fs	ENST00000264039.2	37	c.786	CCDS2534.1	2																																																																																			-	pfam_Glypican		0.667	GPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC1	protein_coding	OTTHUMT00000257179.3	C	NM_002081			241402832	+1	no_errors	ENST00000264039	ensembl	human	known	74_37	frame_shift_del	DEL	0.019	-
SMG6	23293	genome.wustl.edu	37	17	1964759	1964760	+	3'UTR	INS	-	-	G	rs36097261|rs397730291|rs145926620	byFrequency	TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr17:1964759_1964760insG	ENST00000263073.6	-	0	4336_4337				SMG6_ENST00000544865.1_3'UTR|SMG6_ENST00000354901.4_3'UTR|SMG6_ENST00000536871.2_3'UTR|SMG6_ENST00000573166.1_5'UTR	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor						gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AACGGTTCCACGGGGGGGGGGC	0.629													|||unknown(HR)	2696	0.538339	0.5234	0.5821	5008	,	,		16576	0.5923		0.5258	False		,,,				2504	0.4847				Melanoma(59;28 1088 11621 25887 46638 50814)												0								ENSG00000070366																																			SMG6	SO:0001624	3_prime_UTR_variant	0				HGNC	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.*27->C	17.37:g.1964769_1964769dupG		Somatic	0	12	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	15	31.82	B7Z874|O94837|Q86VH6|Q9UF60	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000263073.6	37	NULL	CCDS11016.1	17																																																																																			-	-		0.629	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG6	protein_coding	OTTHUMT00000437826.3	-				1964760	-1	no_errors	ENST00000570756	ensembl	human	known	74_37	rna	INS	0.024:0.027	G
HSD17B6	8630	genome.wustl.edu	37	12	57167823	57167823	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr12:57167823G>T	ENST00000554643.1	+	3	536	c.187G>T	c.(187-189)Gag>Tag	p.E63*	HSD17B6_ENST00000555805.1_Nonsense_Mutation_p.E63*|HSD17B6_ENST00000555159.1_Nonsense_Mutation_p.E63*|HSD17B6_ENST00000554150.1_Nonsense_Mutation_p.E63*|HSD17B6_ENST00000322165.1_Nonsense_Mutation_p.E63*			O14756	H17B6_HUMAN	hydroxysteroid (17-beta) dehydrogenase 6	63				E -> D (in Ref. 1; AAB88252). {ECO:0000305}.	androgen biosynthetic process (GO:0006702)|androgen catabolic process (GO:0006710)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|intracellular (GO:0005622)|membrane (GO:0016020)	catalytic activity (GO:0003824)|electron carrier activity (GO:0009055)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|oxidoreductase activity (GO:0016491)|retinol dehydrogenase activity (GO:0004745)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10					Succinic acid(DB00139)	GTGTCTGACGGAGAAGGGGGC	0.597																																																	0								ENSG00000025423						56.0	57.0	56.0					12																	57167823		2203	4300	6503	HSD17B6	SO:0001587	stop_gained	0			-	HGNC	AF016509	CCDS8925.1	12q13.3	2012-12-07	2012-12-07		ENSG00000025423	ENSG00000025423	1.1.1.62, 1.1.1.63, 1.1.1.105	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	23316	protein-coding gene	gene with protein product	"""oxidative 3-alpha-hydroxysteroid-dehydrogenase"", ""3(alpha->beta)-hydroxysteroid epimerasel"", ""retinol dehydrogenase"", ""oxidoreductase"", ""NAD+ -dependent 3 alpha-hydroxysteroid dehydrogenase"", ""3-hydroxysteroid epimerase"", ""short chain dehydrogenase/reductase family 9C, member 6"""	606623	"""hydroxysteroid (17-beta) dehydrogenase 6"", ""hydroxysteroid (17-beta) dehydrogenase 6 homolog (mouse)"""			11165032, 19027726	Standard	XM_005269207		Approved	HSE, RODH, SDR9C6	uc001smg.1	O14756	OTTHUMG00000170854	ENST00000554643.1:c.187G>T	12.37:g.57167823G>T	ENSP00000451406:p.Glu63*	Somatic	0	37	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	146	27	84.39	O43275	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.E63*	ENST00000554643.1	37	c.187	CCDS8925.1	12	.	.	.	.	.	.	.	.	.	.	G	18.08	3.543119	0.65198	.	.	ENSG00000025423	ENST00000555159;ENST00000555805;ENST00000554643;ENST00000556650;ENST00000554150;ENST00000554155;ENST00000322165	.	.	.	5.08	5.08	0.68730	.	0.106321	0.40385	N	0.001117	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	12.443	0.55635	0.0:0.2736:0.7264:0.0	.	.	.	.	X	63	.	ENSP00000318631:E63X	E	+	1	0	HSD17B6	55454090	0.993000	0.37304	0.931000	0.37212	0.140000	0.21249	2.177000	0.42509	2.810000	0.96702	0.655000	0.94253	GAG	-	pfam_DH_sc/Rdtase_SDR		0.597	HSD17B6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HSD17B6	protein_coding	OTTHUMT00000410714.1	G	NM_003725	-		57167823	+1	no_errors	ENST00000322165	ensembl	human	known	74_37	nonsense	SNP	0.991	T
DSPP	1834	genome.wustl.edu	37	4	88536069	88536167	+	In_Frame_Del	DEL	GCAGTGACAGTAGCGATAGCAGTGACAGCAGCAACAGCAGTGACAGCAGTGATAGCAGTGACAGCAGTGATAGTAGTGACAGCAGCAACAGCAGTGATA	GCAGTGACAGTAGCGATAGCAGTGACAGCAGCAACAGCAGTGACAGCAGTGATAGCAGTGACAGCAGTGATAGTAGTGACAGCAGCAACAGCAGTGATA	-	rs370931212|rs577230106|rs377065929|rs374164104|rs559594297|rs374635846	byFrequency	TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	GCAGTGACAGTAGCGATAGCAGTGACAGCAGCAACAGCAGTGACAGCAGTGATAGCAGTGACAGCAGTGATAGTAGTGACAGCAGCAACAGCAGTGATA	GCAGTGACAGTAGCGATAGCAGTGACAGCAGCAACAGCAGTGACAGCAGTGATAGCAGTGACAGCAGTGATAGTAGTGACAGCAGCAACAGCAGTGATA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr4:88536069_88536167delGCAGTGACAGTAGCGATAGCAGTGACAGCAGCAACAGCAGTGACAGCAGTGATAGCAGTGACAGCAGTGATAGTAGTGACAGCAGCAACAGCAGTGATA	ENST00000282478.7	+	4	2288_2386	c.2255_2353delGCAGTGACAGTAGCGATAGCAGTGACAGCAGCAACAGCAGTGACAGCAGTGATAGCAGTGACAGCAGTGATAGTAGTGACAGCAGCAACAGCAGTGATA	c.(2254-2355)agcagtgacagtagcgatagcagtgacagcagcaacagcagtgacagcagtgatagcagtgacagcagtgatagtagtgacagcagcaacagcagtgatagc>agc	p.752_785SSDSSDSSDSSNSSDSSDSSDSSDSSDSSNSSDS>S	DSPP_ENST00000399271.1_In_Frame_Del_p.752_785SSDSSDSSDSSNSSDSSDSSDSSDSSDSSNSSDS>S|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	752	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)	p.S756S(1)		breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		agcagcaacagcagtgacagtagcgatagcagtgacagcagcaacagcagtgacagcagtgatagcagtgacagcagtgatagtagtgacagcagcaacagcagtgatagcaacgacag	0.502																																																	1	Substitution - coding silent(1)	breast(1)	GRCh37	CD086112	DSPP	D		ENSG00000152591																																			DSPP	SO:0001651	inframe_deletion	0				HGNC	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.2255_2353delGCAGTGACAGTAGCGATAGCAGTGACAGCAGCAACAGCAGTGACAGCAGTGATAGCAGTGACAGCAGTGATAGTAGTGACAGCAGCAACAGCAGTGATA	4.37:g.88536069_88536167delGCAGTGACAGTAGCGATAGCAGTGACAGCAGCAACAGCAGTGACAGCAGTGATAGCAGTGACAGCAGTGATAGTAGTGACAGCAGCAACAGCAGTGATA	ENSP00000282478:p.Ser752_Asp784del	Somatic	NA	NA	NA		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	A8MUI0|O95815	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	NULL	p.SDSSDSSDSSNSSDSSDSSDSSDSSDSSNSSDS753in_frame_del	ENST00000282478.7	37	c.2255_2353	CCDS43248.1	4																																																																																			-	NULL		0.502	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DSPP	protein_coding	OTTHUMT00000363616.3	GCAGTGACAGTAGCGATAGCAGTGACAGCAGCAACAGCAGTGACAGCAGTGATAGCAGTGACAGCAGTGATAGTAGTGACAGCAGCAACAGCAGTGATA	NM_014208			88536167	+1	no_errors	ENST00000282478	ensembl	human	known	74_37	in_frame_del	DEL	0.994:0.994:0.993:0.989:0.998:1.000:1.000:1.000:0.997:0.991:0.910:0.896:0.787:0.583:0.592:0.606:0.587:0.619:0.627:0.625:0.511:0.428:0.221:0.244:0.275:0.289:0.356:0.525:0.744:0.759:0.763:0.703:0.707:0.749:0.781:0.813:0.824:0.843:0.865:0.876:0.869:0.860:0.867:0.851:0.833:0.792:0.673:0.693:0.700:0.793:0.803:0.769:0.524:0.515:0.512:0.488:0.472:0.434:0.321:0.237:0.173:0.138:0.070:0.057:0.069:0.147:0.241:0.273:0.287:0.274:0.249:0.252:0.234:0.073:0.058:0.040:0.010:0.012:0.006:0.005:0.007:0.008:0.009:0.014:0.013:0.002:0.000:0.000:0.001:0.013:0.007:0.005:0.006:0.005:0.006:0.007:0.008:0.009:0.013	-
CAV3	859	genome.wustl.edu	37	3	8775593	8775593	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr3:8775593G>T	ENST00000343849.2	+	1	108	c.31G>T	c.(31-33)Gcc>Tcc	p.A11S	CAV3_ENST00000472766.1_3'UTR|CAV3_ENST00000397368.2_Missense_Mutation_p.A11S|SSUH2_ENST00000478513.1_Intron	NM_001234.4|NM_033337.2	NP_001225.1|NP_203123.1	P56539	CAV3_HUMAN	caveolin 3	11					actin filament organization (GO:0007015)|cardiac muscle cell development (GO:0055013)|caveola assembly (GO:0070836)|cell differentiation (GO:0030154)|cell growth (GO:0016049)|cholesterol homeostasis (GO:0042632)|cytoplasmic microtubule organization (GO:0031122)|endocytosis (GO:0006897)|establishment of protein localization to plasma membrane (GO:0090002)|glucose homeostasis (GO:0042593)|heart trabecula formation (GO:0060347)|membrane raft organization (GO:0031579)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)|negative regulation of cell size (GO:0045792)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sarcomere organization (GO:0060299)|nucleus localization (GO:0051647)|plasma membrane organization (GO:0007009)|plasma membrane repair (GO:0001778)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein localization (GO:0008104)|protein localization to plasma membrane (GO:0072659)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of calcium ion import (GO:0090279)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart contraction (GO:0008016)|regulation of heart rate (GO:0002027)|regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900825)|regulation of membrane potential (GO:0042391)|regulation of nerve growth factor receptor activity (GO:0051394)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase B signaling (GO:0051896)|regulation of signal transduction by receptor internalization (GO:0038009)|regulation of skeletal muscle contraction (GO:0014819)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|T-tubule organization (GO:0033292)|triglyceride metabolic process (GO:0006641)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|dystrophin-associated glycoprotein complex (GO:0016010)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	calcium channel regulator activity (GO:0005246)|connexin binding (GO:0071253)|ion channel binding (GO:0044325)|potassium channel inhibitor activity (GO:0019870)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein complex scaffold (GO:0032947)|sodium channel regulator activity (GO:0017080)			breast(1)|kidney(2)|large_intestine(4)|lung(3)|prostate(1)	11						AGATCTCGAGGCCCAGATCGT	0.562																																																	0								ENSG00000182533						123.0	105.0	111.0					3																	8775593		2203	4300	6503	CAV3	SO:0001583	missense	0			-	HGNC	AF043101	CCDS2569.1	3p25	2014-09-17			ENSG00000182533	ENSG00000182533			1529	protein-coding gene	gene with protein product	"""M-caveolin"""	601253				9536092, 9537420	Standard	NM_033337		Approved	VIP-21, LGMD1C, VIP21, LQT9	uc003brb.3	P56539	OTTHUMG00000090519	ENST00000343849.2:c.31G>T	3.37:g.8775593G>T	ENSP00000341940:p.Ala11Ser	Somatic	0	40	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	20	16.67	A8K777|Q3T1A4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Caveolin	p.A11S	ENST00000343849.2	37	c.31	CCDS2569.1	3	.	.	.	.	.	.	.	.	.	.	G	14.15	2.449320	0.43531	.	.	ENSG00000182533	ENST00000343849;ENST00000397368	D;D	0.92348	-3.02;-3.02	5.15	4.26	0.50523	.	0.239588	0.34828	N	0.003659	T	0.80994	0.4731	N	0.08118	0	0.29156	N	0.878068	B	0.13594	0.008	B	0.17979	0.02	T	0.67814	-0.5573	10	0.13470	T	0.59	-21.02	11.1472	0.48436	0.0888:0.0:0.9112:0.0	.	11	P56539	CAV3_HUMAN	S	11	ENSP00000341940:A11S;ENSP00000380525:A11S	ENSP00000341940:A11S	A	+	1	0	CAV3	8750593	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	3.478000	0.53158	2.397000	0.81536	0.561000	0.74099	GCC	-	pfam_Caveolin		0.562	CAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAV3	protein_coding	OTTHUMT00000207008.2	G	NM_033337	-		8775593	+1	no_errors	ENST00000343849	ensembl	human	known	74_37	missense	SNP	1.000	T
CAPN2	824	genome.wustl.edu	37	1	223945120	223945120	+	Intron	DEL	A	A	-			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr1:223945120delA	ENST00000295006.5	+	11	1626				CAPN2_ENST00000433674.2_Intron	NM_001748.4	NP_001739	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit						blastocyst development (GO:0001824)|cellular response to amino acid stimulus (GO:0071230)|myoblast fusion (GO:0007520)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of cytoskeleton organization (GO:0051493)|response to hypoxia (GO:0001666)	chromatin (GO:0000785)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|cytoskeletal protein binding (GO:0008092)			breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		TCAGGTCACCAAAAAAGCGAG	0.577																																																	0								ENSG00000162909						84.0	88.0	87.0					1																	223945120		2203	4300	6503	CAPN2	SO:0001627	intron_variant	0				HGNC	J04700	CCDS31035.1, CCDS53478.1	1q41-q42	2013-01-10			ENSG00000162909	ENSG00000162909	3.4.22.52	"""EF-hand domain containing"""	1479	protein-coding gene	gene with protein product		114230				2852952, 2539381	Standard	NM_001748		Approved	mCANP, CANPml, CANPL2	uc001hob.4	P17655	OTTHUMG00000037376	ENST00000295006.5:c.1317+38A>-	1.37:g.223945120delA		Somatic	0	18	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	10	16.67	A6NDG7|B7ZA96|E7ES58|Q16738|Q6PJT3|Q8WU26|Q9HBB1	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000295006.5	37	NULL	CCDS31035.1	1																																																																																			-	-		0.577	CAPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN2	protein_coding	OTTHUMT00000090973.1	A	NM_001748			223945120	+1	no_errors	ENST00000480581	ensembl	human	known	74_37	rna	DEL	0.001	-
RAB18	22931	genome.wustl.edu	37	10	27827289	27827289	+	3'UTR	SNP	A	A	G			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr10:27827289A>G	ENST00000356940.6	+	0	1032				RAB18_ENST00000535776.1_3'UTR|RAB18_ENST00000465772.1_3'UTR	NM_001256410.1|NM_001256415.1|NM_021252.4	NP_001243339.1|NP_001243344.1|NP_067075.1	Q9NP72	RAB18_HUMAN	RAB18, member RAS oncogene family						brain development (GO:0007420)|endoplasmic reticulum tubular network organization (GO:0071786)|eye development (GO:0001654)|GTP catabolic process (GO:0006184)|lipid particle organization (GO:0034389)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			kidney(1)|large_intestine(1)|lung(1)	3						ATATGTTGATACAAAGTCTGC	0.299																																																	0								ENSG00000099246																																			RAB18	SO:0001624	3_prime_UTR_variant	0			-	HGNC	AJ277145	CCDS7155.1, CCDS58073.1, CCDS73080.1, CCDS73081.1	10p12	2011-03-07			ENSG00000099246	ENSG00000099246		"""RAB, member RAS oncogene"""	14244	protein-coding gene	gene with protein product		602207				10648831	Standard	NM_021252		Approved		uc001itw.4	Q9NP72	OTTHUMG00000017861	ENST00000356940.6:c.*309A>G	10.37:g.27827289A>G		Somatic	0	20	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	7	53.33	B3KMC7|B7Z333|D3DRW1|Q53FX8|Q56UN9|Q6FIH1	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000356940.6	37	NULL	CCDS7155.1	10																																																																																			-	-		0.299	RAB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB18	protein_coding	OTTHUMT00000047326.2	A	NM_021252	-		27827289	+1	no_errors	ENST00000465772	ensembl	human	known	74_37	rna	SNP	0.001	G
PRSS41	360226	genome.wustl.edu	37	16	2848500	2848511	+	RNA	DEL	GGCGCTGCTGCT	GGCGCTGCTGCT	-	rs182642527|rs537639635|rs568540119	byFrequency	TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	GGCGCTGCTGCT	GGCGCTGCTGCT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr16:2848500_2848511delGGCGCTGCTGCT	ENST00000399677.1	+	0	15_26				SNORA3_ENST00000408792.1_RNA			Q7RTY9	PRS41_HUMAN	protease, serine, 41							anchored component of membrane (GO:0031225)|intracellular organelle (GO:0043229)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)										GCGCGCGCGGggcgctgctgctggcgctgctg	0.797														102	0.0203674	0.0015	0.0288	5008	,	,		11815	0.0		0.0666	False		,,,				2504	0.0133																0								ENSG00000215148			70,2006		31,8,999						0.4	0.0			6	223,4141		68,87,2027	no	coding	PRSS41	NM_001135086.1		99,95,3026	A1A1,A1R,RR		5.11,3.3719,4.5497				293,6147				PRSS41			0				HGNC			16p13.3	2014-04-01			ENSG00000215148	ENSG00000215148		"""Serine peptidases / Serine peptidases"""	30715	other	unknown	"""testis serine protease 1"""					12838346	Standard	NM_001135086		Approved	TESSP1	uc010uwi.2	Q7RTY9	OTTHUMG00000128932		16.37:g.2848500_2848511delGGCGCTGCTGCT		Somatic	NA	NA	NA		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA		RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000399677.1	37	NULL		16																																																																																			-	-		0.797	PRSS41-002	KNOWN	basic	processed_transcript	PRSS41	pseudogene	OTTHUMT00000436450.1	GGCGCTGCTGCT	NM_183379			2848511	+1	no_errors	ENST00000399677	ensembl	human	known	74_37	rna	DEL	0.001:0.000:0.000:0.000:0.000:0.001:0.004:0.000:0.001:0.001:0.000:0.000	-
PHF6	84295	genome.wustl.edu	37	X	133511710	133511710	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chrX:133511710G>T	ENST00000332070.3	+	2	265	c.63G>T	c.(61-63)aaG>aaT	p.K21N	PHF6_ENST00000370803.3_Missense_Mutation_p.K21N|PHF6_ENST00000370800.4_Missense_Mutation_p.K21N|PHF6_ENST00000394292.1_Missense_Mutation_p.K21N|PHF6_ENST00000416404.2_Missense_Mutation_p.K21N|PHF6_ENST00000370799.1_Missense_Mutation_p.K21N	NM_032458.2	NP_115834.1	Q8IWS0	PHF6_HUMAN	PHD finger protein 6	21	Extended PHD1 domain (ePHD1).				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|scaffold protein binding (GO:0097110)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103	Acute lymphoblastic leukemia(192;0.000127)					GCTTTTGTAAGTCAAATAGAG	0.413			"""F, N, Splice, Mis"""		ETP ALL																																Colon(100;666 1493 6344 21231 35807)			Rec	yes		X	Xq26.3	84295	PHD finger protein 6		L	0								ENSG00000156531						99.0	89.0	92.0					X																	133511710		2203	4300	6503	PHF6	SO:0001583	missense	0			-	HGNC	AB058726	CCDS14639.1, CCDS14640.1	Xq26	2014-09-17			ENSG00000156531	ENSG00000156531		"""Zinc fingers, PHD-type"""	18145	protein-coding gene	gene with protein product	"""centromere protein 31"""	300414	"""Borjeson-Forssman-Lehmann syndrome"""	BFLS, BORJ		12415272, 15466013	Standard	NM_032335		Approved	KIAA1823, MGC14797, CENP-31	uc004exk.3	Q8IWS0	OTTHUMG00000022453	ENST00000332070.3:c.63G>T	X.37:g.133511710G>T	ENSP00000329097:p.Lys21Asn	Somatic	0	38	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	20	13.04	A8K230|B4E0G4|D3DTG3|E9PC97|Q5JRC7|Q5JRC8|Q96JK3|Q9BRU0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	superfamily_Znf_FYVE_PHD,smart_Znf_PHD	p.K21N	ENST00000332070.3	37	c.63	CCDS14639.1	X	.	.	.	.	.	.	.	.	.	.	g	10.56	1.383277	0.25031	.	.	ENSG00000156531	ENST00000370803;ENST00000332070;ENST00000394292;ENST00000370799;ENST00000416404;ENST00000370800	D;D;D;D;D;D	0.90563	-2.69;-2.69;-2.1;-2.67;-1.95;-2.12	5.77	3.96	0.45880	.	0.039840	0.85682	D	0.000000	T	0.78489	0.4291	N	0.08118	0	0.36460	D	0.866633	B;B;B;B;B	0.19200	0.003;0.007;0.001;0.001;0.034	B;B;B;B;B	0.20767	0.015;0.011;0.002;0.002;0.031	T	0.73636	-0.3920	10	0.21540	T	0.41	-14.9557	9.2763	0.37700	0.3011:0.0:0.6989:0.0	.	21;21;21;21;21	B4E0G4;A8K230;Q8IWS0;E9PC97;Q8IWS0-2	.;.;PHF6_HUMAN;.;.	N	21	ENSP00000359839:K21N;ENSP00000329097:K21N;ENSP00000377831:K21N;ENSP00000359835:K21N;ENSP00000394480:K21N;ENSP00000359836:K21N	ENSP00000329097:K21N	K	+	3	2	PHF6	133339376	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.489000	0.35562	1.296000	0.44742	0.540000	0.68198	AAG	-	NULL		0.413	PHF6-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHF6	protein_coding	OTTHUMT00000058367.1	G	NM_032458	-		133511710	+1	no_errors	ENST00000394292	ensembl	human	known	74_37	missense	SNP	1.000	T
HSP90AB1	3326	genome.wustl.edu	37	6	44219325	44219325	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr6:44219325G>A	ENST00000371554.1	+	8	1508	c.1294G>A	c.(1294-1296)Gca>Aca	p.A432T	SLC35B2_ENST00000495706.1_5'Flank|HSP90AB1_ENST00000353801.3_Missense_Mutation_p.A432T|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.A432T|MIR4647_ENST00000583964.1_RNA			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	432					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ATTCTATGAGGCATTCTCTAA	0.333																																																	0								ENSG00000096384						27.0	28.0	28.0					6																	44219325		2183	4292	6475	HSP90AB1	SO:0001583	missense	0			-	HGNC	AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"""Heat shock proteins / HSPC"""	5258	protein-coding gene	gene with protein product		140572	"""heat shock 90kD protein 1, beta"", ""heat shock 90kDa protein 1, beta"""	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.1294G>A	6.37:g.44219325G>A	ENSP00000360609:p.Ala432Thr	Somatic	0	45	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pirsf_Hsp90_fam,prints_Hsp90_N	p.A432T	ENST00000371554.1	37	c.1294	CCDS4909.1	6	.	.	.	.	.	.	.	.	.	.	G	24.6	4.554235	0.86231	.	.	ENSG00000096384	ENST00000371646;ENST00000353801;ENST00000371565;ENST00000371562;ENST00000371556;ENST00000371554	T;T;T	0.10192	2.9;2.9;2.9	4.84	4.84	0.62591	Ribosomal protein S5 domain 2-type fold (1);	0.167713	0.36893	U	0.002347	T	0.06962	0.0177	L	0.55743	1.74	0.58432	D	0.999999	P;B;B	0.42039	0.769;0.381;0.225	B;B;B	0.35039	0.194;0.137;0.089	T	0.11916	-1.0568	10	0.62326	D	0.03	-11.3589	17.9239	0.88976	0.0:0.0:1.0:0.0	.	394;422;432	B4DMA2;B4DGL0;P08238	.;.;HS90B_HUMAN	T	432;432;70;70;70;432	ENSP00000360709:A432T;ENSP00000325875:A432T;ENSP00000360609:A432T	ENSP00000325875:A432T	A	+	1	0	HSP90AB1	44327303	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.612000	0.74187	2.251000	0.74343	0.650000	0.86243	GCA	-	pfam_Hsp90_fam,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Hsp90_fam		0.333	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HSP90AB1	protein_coding	OTTHUMT00000040730.1	G	NM_007355	-		44219325	+1	no_errors	ENST00000353801	ensembl	human	known	74_37	missense	SNP	1.000	A
ZZZ3	26009	genome.wustl.edu	37	1	78044547	78044547	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr1:78044547C>T	ENST00000370801.3	-	11	2565	c.2090G>A	c.(2089-2091)aGc>aAc	p.S697N	ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Missense_Mutation_p.S203N	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	697	HTH myb-type. {ECO:0000255|PROSITE- ProRule:PRU00625}.				chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						CTGTACTCGGCTGGCAACCTA	0.343																																																	0								ENSG00000036549						66.0	67.0	66.0					1																	78044547		2203	4300	6503	ZZZ3	SO:0001583	missense	0			-	HGNC	AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"""Zinc fingers, ZZ-type"""	24523	protein-coding gene	gene with protein product	"""ATAC component 1 homolog (Drosophila)"""					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.2090G>A	1.37:g.78044547C>T	ENSP00000359837:p.Ser697Asn	Somatic	0	33	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	11	38.89	B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Znf_ZZ,pfscan_Myb-like_dom	p.S697N	ENST00000370801.3	37	c.2090	CCDS677.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.125906	0.94429	.	.	ENSG00000036549	ENST00000370801;ENST00000370798	T;T	0.49139	0.79;0.79	5.84	5.84	0.93424	Transcription regulator HTH, Myb-type, DNA-binding (1);Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.040117	0.85682	D	0.000000	T	0.67804	0.2932	M	0.77616	2.38	0.80722	D	1	P;D;P	0.89917	0.557;1.0;0.787	B;D;P	0.91635	0.295;0.999;0.526	T	0.67304	-0.5704	10	0.59425	D	0.04	.	20.5276	0.99231	0.0:1.0:0.0:0.0	.	203;697;696	Q8IYH5-3;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	N	697;203	ENSP00000359837:S697N;ENSP00000359834:S203N	ENSP00000359834:S203N	S	-	2	0	ZZZ3	77817135	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.378000	0.79679	2.937000	0.99478	0.650000	0.86243	AGC	-	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom		0.343	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZZZ3	protein_coding	OTTHUMT00000026615.1	C	NM_015534	-		78044547	-1	no_errors	ENST00000370801	ensembl	human	known	74_37	missense	SNP	1.000	T
CALCOCO1	57658	genome.wustl.edu	37	12	54117527	54117527	+	Silent	SNP	G	G	A			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr12:54117527G>A	ENST00000550804.1	-	4	360	c.300C>T	c.(298-300)ttC>ttT	p.F100F	CALCOCO1_ENST00000548263.1_Silent_p.F100F|CALCOCO1_ENST00000262059.4_Silent_p.F100F|CALCOCO1_ENST00000547885.1_5'Flank|CALCOCO1_ENST00000430117.2_Intron			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	100	N-terminal AD (CTNNB1 binding site). {ECO:0000250}.				intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						TCACATATCGGAACTGGTAGA	0.607																																																	0								ENSG00000012822						49.0	53.0	52.0					12																	54117527		2203	4300	6503	CALCOCO1	SO:0001819	synonymous_variant	0			-	HGNC	AL136895	CCDS8864.1, CCDS44908.1	12q13.13	2014-01-02			ENSG00000012822	ENSG00000012822			29306	protein-coding gene	gene with protein product	"""coiled-coil leucine zipper coactivator 1"", ""inorganic pyrophosphatase activator"""					10819331, 11230166	Standard	NM_020898		Approved	KIAA1536, calphoglin, Cocoa	uc001sef.3	Q9P1Z2	OTTHUMG00000170095	ENST00000550804.1:c.300C>T	12.37:g.54117527G>A		Somatic	0	23	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	16	27.27	B3KVA8|Q6FI59|Q71RC3|Q86WF8|Q96JU3|Q9H090	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_CoCoA	p.F100	ENST00000550804.1	37	c.300	CCDS8864.1	12																																																																																			-	pfam_CoCoA		0.607	CALCOCO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CALCOCO1	protein_coding	OTTHUMT00000407233.2	G	NM_020898	-		54117527	-1	no_errors	ENST00000550804	ensembl	human	known	74_37	silent	SNP	1.000	A
HSD17B6	8630	genome.wustl.edu	37	12	57167910	57167910	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr12:57167910G>A	ENST00000554643.1	+	3	623	c.274G>A	c.(274-276)Gca>Aca	p.A92T	HSD17B6_ENST00000555805.1_Missense_Mutation_p.A92T|HSD17B6_ENST00000555159.1_Missense_Mutation_p.A92T|HSD17B6_ENST00000554150.1_Missense_Mutation_p.A92T|HSD17B6_ENST00000322165.1_Missense_Mutation_p.A92T			O14756	H17B6_HUMAN	hydroxysteroid (17-beta) dehydrogenase 6	92					androgen biosynthetic process (GO:0006702)|androgen catabolic process (GO:0006710)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|intracellular (GO:0005622)|membrane (GO:0016020)	catalytic activity (GO:0003824)|electron carrier activity (GO:0009055)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|oxidoreductase activity (GO:0016491)|retinol dehydrogenase activity (GO:0004745)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10					Succinic acid(DB00139)	GAGCATCGCTGCAGCTACTCA	0.507																																																	0								ENSG00000025423						72.0	75.0	74.0					12																	57167910		2203	4300	6503	HSD17B6	SO:0001583	missense	0			-	HGNC	AF016509	CCDS8925.1	12q13.3	2012-12-07	2012-12-07		ENSG00000025423	ENSG00000025423	1.1.1.62, 1.1.1.63, 1.1.1.105	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	23316	protein-coding gene	gene with protein product	"""oxidative 3-alpha-hydroxysteroid-dehydrogenase"", ""3(alpha->beta)-hydroxysteroid epimerasel"", ""retinol dehydrogenase"", ""oxidoreductase"", ""NAD+ -dependent 3 alpha-hydroxysteroid dehydrogenase"", ""3-hydroxysteroid epimerase"", ""short chain dehydrogenase/reductase family 9C, member 6"""	606623	"""hydroxysteroid (17-beta) dehydrogenase 6"", ""hydroxysteroid (17-beta) dehydrogenase 6 homolog (mouse)"""			11165032, 19027726	Standard	XM_005269207		Approved	HSE, RODH, SDR9C6	uc001smg.1	O14756	OTTHUMG00000170854	ENST00000554643.1:c.274G>A	12.37:g.57167910G>A	ENSP00000451406:p.Ala92Thr	Somatic	0	36	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	182	20	90.10	O43275	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.A92T	ENST00000554643.1	37	c.274	CCDS8925.1	12	.	.	.	.	.	.	.	.	.	.	G	11.10	1.539745	0.27563	.	.	ENSG00000025423	ENST00000555159;ENST00000555805;ENST00000554643;ENST00000554150;ENST00000322165	D;D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51;-2.51	5.08	5.08	0.68730	NAD(P)-binding domain (1);	0.110360	0.37577	N	0.002036	D	0.84460	0.5477	L	0.43757	1.38	0.09310	N	1	B	0.28055	0.199	B	0.34722	0.188	T	0.70124	-0.4958	10	0.17369	T	0.5	.	11.2404	0.48966	0.0851:0.0:0.9149:0.0	.	92	O14756	H17B6_HUMAN	T	92	ENSP00000450698:A92T;ENSP00000451753:A92T;ENSP00000451406:A92T;ENSP00000452273:A92T;ENSP00000318631:A92T	ENSP00000318631:A92T	A	+	1	0	HSD17B6	55454177	0.001000	0.12720	0.413000	0.26509	0.086000	0.17979	1.365000	0.34182	2.810000	0.96702	0.655000	0.94253	GCA	-	pfam_DH_sc/Rdtase_SDR		0.507	HSD17B6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HSD17B6	protein_coding	OTTHUMT00000410714.1	G	NM_003725	-		57167910	+1	no_errors	ENST00000322165	ensembl	human	known	74_37	missense	SNP	0.126	A
PROSER1	80209	genome.wustl.edu	37	13	39600524	39600524	+	Splice_Site	SNP	C	C	A			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr13:39600524C>A	ENST00000352251.3	-	6	1203	c.370G>T	c.(370-372)Gct>Tct	p.A124S	PROSER1_ENST00000484434.3_5'Flank|PROSER1_ENST00000350125.3_Splice_Site_p.A102S	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	124																	CCCTTGAAAGCCTGTAATATA	0.388																																																	0								ENSG00000120685						63.0	69.0	67.0					13																	39600524		2203	4300	6503	PROSER1	SO:0001630	splice_region_variant	0			-	HGNC	AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 23"""	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.370-1G>T	13.37:g.39600524C>A		Somatic	0	76	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.A124S	ENST00000352251.3	37	c.370	CCDS9368.2	13	.	.	.	.	.	.	.	.	.	.	C	25.9	4.680443	0.88542	.	.	ENSG00000120685	ENST00000352251;ENST00000350125;ENST00000436678	T;T	0.33654	1.4;1.4	5.44	5.44	0.79542	.	.	.	.	.	T	0.45196	0.1330	N	0.19112	0.55	0.58432	D	0.999992	D;D	0.76494	0.999;0.998	D;D	0.80764	0.973;0.994	T	0.27806	-1.0063	8	.	.	.	-14.7902	17.1251	0.86712	0.0:1.0:0.0:0.0	.	102;124	A6NJ97;Q86XN7	.;PRSR1_HUMAN	S	124;102;103	ENSP00000332034:A124S;ENSP00000339123:A102S	.	A	-	1	0	PROSER1	38498524	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	7.019000	0.76412	2.720000	0.93068	0.650000	0.86243	GCT	-	NULL		0.388	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PROSER1	protein_coding	OTTHUMT00000044607.5	C	NM_025138	-	Missense_Mutation	39600524	-1	no_errors	ENST00000352251	ensembl	human	known	74_37	missense	SNP	1.000	A
ANTXR1	84168	genome.wustl.edu	37	2	69420546	69420546	+	Splice_Site	SNP	C	C	A	rs369137693		TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr2:69420546C>A	ENST00000303714.4	+	17	1755	c.1433C>A	c.(1432-1434)aCg>aAg	p.T478K		NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	478					actin cytoskeleton reorganization (GO:0031532)|reproductive process (GO:0022414)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|lamellipodium membrane (GO:0031258)	actin filament binding (GO:0051015)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|transmembrane signaling receptor activity (GO:0004888)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						CCAGGAGACACGGTAGGACTC	0.448									Familial Infantile Hemangioma																																								0								ENSG00000169604						167.0	155.0	159.0					2																	69420546		2203	4300	6503	ANTXR1	SO:0001630	splice_region_variant	0	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	-	HGNC	AF421380	CCDS1892.1, CCDS46313.1, CCDS46314.1	2p13.1	2006-04-12			ENSG00000169604	ENSG00000169604			21014	protein-coding gene	gene with protein product	"""anthrax toxin receptor"", ""tumor endothelial marker 8 precursor"""	606410				10947988, 11559528	Standard	NM_032208		Approved	TEM8, FLJ21776, FLJ10601, ATR	uc002sfg.3	Q9H6X2	OTTHUMG00000129575	ENST00000303714.4:c.1434+1C>A	2.37:g.69420546C>A		Somatic	0	34	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	A8K7U8|J7K7G4|J7KF88|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_extracel,pfam_Anthrax_toxin_rcpt_C,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.T478K	ENST00000303714.4	37	c.1433	CCDS1892.1	2	.	.	.	.	.	.	.	.	.	.	C	12.44	1.938262	0.34189	.	.	ENSG00000169604	ENST00000303714	T	0.74002	-0.8	5.48	4.57	0.56435	Anthrax toxin receptor, C-terminal (2);	0.094419	0.64402	D	0.000001	T	0.29223	0.0727	N	0.00128	-2.045	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.54221	-0.8326	10	0.02654	T	1	-15.1396	9.0587	0.36421	0.2446:0.621:0.1344:0.0	.	478	Q9H6X2	ANTR1_HUMAN	K	478	ENSP00000301945:T478K	ENSP00000301945:T478K	T	+	2	0	ANTXR1	69274050	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.853000	0.55941	2.861000	0.98227	0.650000	0.86243	ACG	-	pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_C		0.448	ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANTXR1	protein_coding	OTTHUMT00000251770.2	C	NM_032208	-	Missense_Mutation	69420546	+1	no_errors	ENST00000303714	ensembl	human	known	74_37	missense	SNP	1.000	A
LMO7	4008	genome.wustl.edu	37	13	76415869	76415869	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr13:76415869G>T	ENST00000321797.8	+	22	3803	c.3082G>T	c.(3082-3084)Gaa>Taa	p.E1028*	LMO7_ENST00000526202.1_Nonsense_Mutation_p.E905*|LMO7_ENST00000357063.3_Nonsense_Mutation_p.E1313*|LMO7_ENST00000341547.4_Nonsense_Mutation_p.E979*|LMO7_ENST00000377534.3_Nonsense_Mutation_p.E1313*|LMO7_ENST00000465261.2_Nonsense_Mutation_p.E1028*			Q8WWI1	LMO7_HUMAN	LIM domain 7	1313					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TTCAGACAGAGAAGGAACCCG	0.532																																																	0								ENSG00000136153						97.0	98.0	97.0					13																	76415869		2203	4300	6503	LMO7	SO:0001587	stop_gained	0			-	HGNC	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.3082G>T	13.37:g.76415869G>T	ENSP00000317802:p.Glu1028*	Somatic	0	37	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	16	15.79	E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin	p.E1313*	ENST00000321797.8	37	c.3937		13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	52|52	19.274939|19.274939	0.99917|0.99917	.|.	.|.	ENSG00000136153|ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499;ENST00000321797;ENST00000526202;ENST00000465261|ENST00000447038;ENST00000525914	.|.	.|.	.|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	0.471934|.	0.25839|.	N|.	0.027973|.	.|T	.|0.74527	.|0.3728	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73075	.|-0.4097	.|4	0.40728|0.46703	T|T	0.16|0.11	-25.3782|-25.3782	17.1046|17.1046	0.86659|0.86659	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	979;1313;1313;927;1028;905;1028|936;196	.|.	ENSP00000317802:E1028X|ENSP00000388955:R936I	E|R	+|+	1|2	0|0	LMO7|LMO7	75313870|75313870	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.945000|0.945000	0.59286|0.59286	5.352000|5.352000	0.66028|0.66028	2.825000|2.825000	0.97269|0.97269	0.655000|0.655000	0.94253|0.94253	GAA|AGA	-	NULL		0.532	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	LMO7	protein_coding	OTTHUMT00000045301.3	G	NM_005358	-		76415869	+1	no_errors	ENST00000357063	ensembl	human	known	74_37	nonsense	SNP	1.000	T
DUSP22	56940	genome.wustl.edu	37	6	311931	311931	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr6:311931C>G	ENST00000344450.5	+	3	550	c.107C>G	c.(106-108)tCt>tGt	p.S36C	DUSP22_ENST00000419235.2_Missense_Mutation_p.S36C|DUSP22_ENST00000605035.1_5'UTR|DUSP22_ENST00000603453.1_Intron|DUSP22_ENST00000605315.1_Intron|DUSP22_ENST00000605863.1_Intron	NM_020185.3	NP_064570.1	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	36					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of JNK cascade (GO:0046330)|protein dephosphorylation (GO:0006470)|regulation of cell proliferation (GO:0042127)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		CATATTCTGTCTGTCCACGAT	0.478																																																	0								ENSG00000112679						170.0	130.0	144.0					6																	311931		2203	4300	6503	DUSP22	SO:0001583	missense	0			-	HGNC	AF165519	CCDS4468.1, CCDS69035.1	6p25.3	2013-09-19			ENSG00000112679	ENSG00000112679		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	16077	protein-coding gene	gene with protein product						9205128, 11717427	Standard	NM_001286555		Approved	MKPX, JSP1, JKAP, VHX	uc003msx.3	Q9NRW4	OTTHUMG00000014113	ENST00000344450.5:c.107C>G	6.37:g.311931C>G	ENSP00000345281:p.Ser36Cys	Somatic	0	60	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	56	22.22	B4DK56|Q59GW2|Q5VWR2|Q96AR1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.S36C	ENST00000344450.5	37	c.107	CCDS4468.1	6	.	.	.	.	.	.	.	.	.	.	C	25.7	4.666281	0.88251	.	.	ENSG00000112679	ENST00000344450	D	0.86366	-2.11	5.99	5.99	0.97316	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.178066	0.39909	N	0.001227	D	0.92306	0.7559	M	0.75447	2.3	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.92590	0.6082	10	0.87932	D	0	.	15.9778	0.80083	0.0:1.0:0.0:0.0	.	36;36	Q9NRW4-2;Q9NRW4	.;DUS22_HUMAN	C	36	ENSP00000345281:S36C	ENSP00000345281:S36C	S	+	2	0	DUSP22	256931	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.643000	0.61390	2.840000	0.97914	0.655000	0.94253	TCT	-	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,pfscan_Dual-sp_phosphatase_subgr_cat		0.478	DUSP22-001	KNOWN	basic|CCDS	protein_coding	DUSP22	protein_coding	OTTHUMT00000039621.1	C	NM_020185	-		311931	+1	no_errors	ENST00000419235	ensembl	human	known	74_37	missense	SNP	1.000	G
HELZ2	85441	genome.wustl.edu	37	20	62202614	62202614	+	Intron	SNP	C	C	T	rs76623277|rs111600442	byFrequency	TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr20:62202614C>T	ENST00000467148.1	-	2	348				HELZ2_ENST00000479540.1_5'UTR	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator						cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GCTCCTGCCCCGCTCCAAGCT	0.692																																																	0								ENSG00000130589																																			HELZ2	SO:0001627	intron_variant	0			-	HGNC	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.279-393G>A	20.37:g.62202614C>T		Somatic	0	8	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	9	30.77	Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000467148.1	37	NULL	CCDS33508.1	20																																																																																			-	-		0.692	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HELZ2	protein_coding	OTTHUMT00000354127.1	C	NM_001037335	rs111600442		62202614	-1	no_errors	ENST00000479540	ensembl	human	known	74_37	rna	SNP	0.429	T
RCL1	10171	genome.wustl.edu	37	9	4860199	4860199	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr9:4860199A>T	ENST00000381750.4	+	9	1269	c.1046A>T	c.(1045-1047)gAa>gTa	p.E349V	AL158147.2_ENST00000599351.1_5'Flank|RCL1_ENST00000381728.1_Missense_Mutation_p.E163V|RCL1_ENST00000448872.2_Missense_Mutation_p.E163V|RCL1_ENST00000381730.1_Missense_Mutation_p.E163V	NM_005772.3	NP_005763.3	Q9Y2P8	RCL1_HUMAN	RNA terminal phosphate cyclase-like 1	349					ribosome biogenesis (GO:0042254)|RNA processing (GO:0006396)	nucleolus (GO:0005730)	catalytic activity (GO:0003824)			breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0244)		TGTGGTGAAGAACTCAAGGGT	0.383																																																	0								ENSG00000120158						99.0	92.0	94.0					9																	4860199		2203	4300	6503	RCL1	SO:0001583	missense	0			-	HGNC	AJ276894	CCDS6456.1, CCDS69565.1, CCDS75810.1	9p24.1-p23	2008-02-05			ENSG00000120158	ENSG00000120158			17687	protein-coding gene	gene with protein product		611405					Standard	NM_001286701		Approved	RPCL1, RNAC	uc003zis.2	Q9Y2P8	OTTHUMG00000019474	ENST00000381750.4:c.1046A>T	9.37:g.4860199A>T	ENSP00000371169:p.Glu349Val	Somatic	0	182	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	95	30.15	D3DRI2|Q5VYW9|Q5VZU1|Q9H9D0|Q9NY00|Q9P044	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_RNA3'_phos_cyclase_dom,pfam_RNA3'-term_phos_cycl_insert,superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b,pirsf_RNA3'_term_phos_cyc,tigrfam_RNA3'_term_phos_cyc_type_2	p.E349V	ENST00000381750.4	37	c.1046	CCDS6456.1	9	.	.	.	.	.	.	.	.	.	.	A	19.82	3.899210	0.72754	.	.	ENSG00000120158	ENST00000381750;ENST00000381730;ENST00000381728;ENST00000448872	.	.	.	5.8	5.8	0.92144	-terminal phosphate cyclase-like, eukaryotic (2);RNA 3&apos (3);-terminal phosphate cyclase (1);	0.112447	0.64402	D	0.000004	T	0.45617	0.1351	N	0.22421	0.69	0.80722	D	1	B;B	0.33022	0.394;0.016	B;B	0.30401	0.115;0.01	T	0.47837	-0.9086	9	0.54805	T	0.06	-17.5406	15.8123	0.78573	1.0:0.0:0.0:0.0	.	163;349	Q5VZU1;Q9Y2P8	.;RCL1_HUMAN	V	349;163;163;163	.	ENSP00000371147:E163V	E	+	2	0	RCL1	4850199	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.780000	0.91799	2.207000	0.71202	0.528000	0.53228	GAA	-	pirsf_RNA3'_term_phos_cyc,tigrfam_RNA3'_term_phos_cyc_type_2		0.383	RCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCL1	protein_coding	OTTHUMT00000051587.1	A	NM_005772	-		4860199	+1	no_errors	ENST00000381750	ensembl	human	known	74_37	missense	SNP	1.000	T
C1QA	712	genome.wustl.edu	37	1	22965616	22965616	+	Missense_Mutation	SNP	G	G	A	rs201517118		TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr1:22965616G>A	ENST00000374642.3	+	3	658	c.454G>A	c.(454-456)Gtc>Atc	p.V152I	C1QA_ENST00000402322.1_Missense_Mutation_p.V152I	NM_015991.2	NP_057075.1	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	152	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				cell-cell signaling (GO:0007267)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	collagen trimer (GO:0005581)|complement component C1 complex (GO:0005602)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CGGCCGATTCGTCTGCACTGT	0.602													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17525	0.0		0.0	False		,,,				2504	0.0																0								ENSG00000173372						89.0	80.0	83.0					1																	22965616		2203	4300	6503	C1QA	SO:0001583	missense	0			GMAF=0.0005	HGNC	AF135157	CCDS226.1	1p36.3-p34.1	2014-09-17	2006-02-09		ENSG00000173372	ENSG00000173372		"""Complement system"""	1241	protein-coding gene	gene with protein product		120550	"""complement component 1, q subcomponent, alpha polypeptide"""			1537612	Standard	NM_015991		Approved		uc001bfy.3	P02745	OTTHUMG00000002893	ENST00000374642.3:c.454G>A	1.37:g.22965616G>A	ENSP00000363773:p.Val152Ile	Somatic	0	29	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	34	12.82	B2R4X2|Q5T963	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.V152I	ENST00000374642.3	37	c.454	CCDS226.1	1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	3.569	-0.087984	0.07097	.	.	ENSG00000173372	ENST00000374642;ENST00000438241;ENST00000402322	T;T;T	0.21932	1.98;1.98;1.98	5.67	-7.39	0.01402	Tumour necrosis factor-like (2);Complement C1q protein (4);	.	.	.	.	T	0.07593	0.0191	N	0.10664	0.02	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.42015	-0.9476	9	0.13470	T	0.59	-2.0698	8.5141	0.33235	0.5673:0.3111:0.1216:0.0	.	152	P02745	C1QA_HUMAN	I	152	ENSP00000363773:V152I;ENSP00000416841:V152I;ENSP00000385564:V152I	ENSP00000363773:V152I	V	+	1	0	C1QA	22838203	0.031000	0.19500	0.055000	0.19348	0.034000	0.12701	-0.598000	0.05706	-1.288000	0.02378	0.561000	0.74099	GTC	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q		0.602	C1QA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QA	protein_coding	OTTHUMT00000008087.2	G	NM_015991	rs201517118		22965616	+1	no_errors	ENST00000374642	ensembl	human	known	74_37	missense	SNP	0.087	A
TPRXL	348825	genome.wustl.edu	37	3	14105964	14105965	+	In_Frame_Ins	INS	-	-	AGC	rs138518200|rs142895893	byFrequency	TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr3:14105964_14105965insAGC	ENST00000424053.1	+	3	835_836	c.288_289insAGC	c.(289-291)agc>AGCagc	p.97_97S>SS	TPRXL_ENST00000532753.1_Intron|TPRXL_ENST00000326972.8_In_Frame_Ins_p.97_97S>SS|TPRXL_ENST00000429201.1_In_Frame_Ins_p.97_97S>SS			Q17RH7	TPRXL_HUMAN	tetra-peptide repeat homeobox-like	0	Ser-rich.									endometrium(1)	1						gtagcagctctagcagcagcag	0.678														1496	0.298722	0.1505	0.3473	5008	,	,		10201	0.4385		0.2982	False		,,,				2504	0.3211																0								ENSG00000180438																																			TPRXL	SO:0001652	inframe_insertion	0				HGNC	AK092426		3p25.1	2011-06-20			ENSG00000180438	ENSG00000180438		"""Homeoboxes / PRD class"""	32178	pseudogene	pseudogene		611167					Standard	NR_002223		Approved	FLJ35107	uc003byg.3	Q17RH7	OTTHUMG00000155509	ENST00000424053.1:c.304_306dupAGC	3.37:g.14105971_14105973dupAGC	ENSP00000400448:p.Ser102dup	Somatic	0	12	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	11	35.29	Q8NAM5	In_Frame_Ins	INS	NA	NA	NA	NA	NA	NA	NULL	p.100in_frame_insS	ENST00000424053.1	37	c.288_289		3																																																																																			-	NULL		0.678	TPRXL-003	KNOWN	alternative_5_UTR|basic|appris_principal	protein_coding	TPRXL	protein_coding	OTTHUMT00000340436.1	-	NR_002223			14105965	+1	no_errors	ENST00000326972	ensembl	human	known	74_37	in_frame_ins	INS	0.893:0.892	AGC
RYR3	6263	genome.wustl.edu	37	15	33941420	33941420	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr15:33941420G>A	ENST00000389232.4	+	31	4196	c.4126G>A	c.(4126-4128)Ggc>Agc	p.G1376S	RYR3_ENST00000415757.3_Missense_Mutation_p.G1376S	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1376	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGATGAAAGAGGCCGGGTCCA	0.532																																																	0								ENSG00000198838						99.0	102.0	101.0					15																	33941420		1904	4113	6017	RYR3	SO:0001583	missense	0			-	HGNC		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.4126G>A	15.37:g.33941420G>A	ENSP00000373884:p.Gly1376Ser	Somatic	0	60	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	31	31.11	O15175|Q15412	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,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_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.G1376S	ENST00000389232.4	37	c.4126	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	G	33	5.200263	0.94997	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.63255	-0.03;-0.03	5.18	5.18	0.71444	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	T	0.77198	0.4095	M	0.66378	2.025	0.80722	D	1	D;D	0.69078	0.997;0.976	D;P	0.64877	0.93;0.908	T	0.78321	-0.2249	10	0.59425	D	0.04	.	18.8751	0.92331	0.0:0.0:1.0:0.0	.	1376;1376	Q15413-2;Q15413	.;RYR3_HUMAN	S	1376	ENSP00000373884:G1376S;ENSP00000399610:G1376S	ENSP00000354735:G1376S	G	+	1	0	RYR3	31728712	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.595000	0.98260	2.705000	0.92388	0.650000	0.86243	GGC	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.532	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	protein_coding	OTTHUMT00000417514.1	G		-		33941420	+1	no_errors	ENST00000389232	ensembl	human	known	74_37	missense	SNP	1.000	A
CALN1	83698	genome.wustl.edu	37	7	71252869	71252869	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr7:71252869T>C	ENST00000329008.5	-	6	849	c.551A>G	c.(550-552)aAc>aGc	p.N184S	CALN1_ENST00000412588.1_Missense_Mutation_p.N226S|CALN1_ENST00000395275.2_Missense_Mutation_p.N226S|CALN1_ENST00000431984.1_Missense_Mutation_p.N184S|CALN1_ENST00000395276.2_Missense_Mutation_p.N184S|CALN1_ENST00000405452.2_Missense_Mutation_p.N184S	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	184						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				GGTCTGTCTGTTCTGCTTCTG	0.532																																																	0								ENSG00000183166						116.0	93.0	101.0					7																	71252869		2203	4300	6503	CALN1	SO:0001583	missense	0			-	HGNC	AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"""EF-hand domain containing"""	13248	protein-coding gene	gene with protein product	"""calcium-binding protein CABP8"""	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000329008.5:c.551A>G	7.37:g.71252869T>C	ENSP00000332498:p.Asn184Ser	Somatic	0	26	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	2	77.78	J3KQA7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.N226S	ENST00000329008.5	37	c.677	CCDS5541.1	7	.	.	.	.	.	.	.	.	.	.	T	19.68	3.872169	0.72180	.	.	ENSG00000183166	ENST00000329008;ENST00000395275;ENST00000395276;ENST00000431984;ENST00000412588;ENST00000405452	T;T;T;T;T;T	0.69806	-0.32;-0.43;-0.32;-0.32;-0.43;-0.32	5.12	3.89	0.44902	.	0.000000	0.85682	D	0.000000	T	0.41719	0.1171	N	0.14661	0.345	0.44745	D	0.997741	P;P	0.36483	0.555;0.555	B;B	0.31495	0.131;0.131	T	0.33752	-0.9856	10	0.13108	T	0.6	-43.6598	10.1265	0.42652	0.1495:0.0:0.0:0.8505	.	184;184	A4D1Z1;Q9BXU9	.;CABP8_HUMAN	S	184;226;184;184;226;184	ENSP00000332498:N184S;ENSP00000378690:N226S;ENSP00000378691:N184S;ENSP00000410704:N184S;ENSP00000391882:N226S;ENSP00000384354:N184S	ENSP00000332498:N184S	N	-	2	0	CALN1	70890805	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.123000	0.71614	1.922000	0.55676	0.459000	0.35465	AAC	-	NULL		0.532	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CALN1	protein_coding	OTTHUMT00000320044.2	T	NM_031468	-		71252869	-1	no_errors	ENST00000395275	ensembl	human	known	74_37	missense	SNP	1.000	C
COL6A5	256076	genome.wustl.edu	37	3	130098262	130098262	+	Splice_Site	SNP	T	T	C			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr3:130098262T>C	ENST00000432398.2	+	4	1163	c.669T>C	c.(667-669)gtT>gtC	p.V223V	COL6A5_ENST00000265379.6_Splice_Site_p.V223V	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	223	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TCTGCATAGTTCACTTCCCCA	0.433																																																	0								ENSG00000172752						35.0	30.0	31.0					3																	130098262		692	1591	2283	COL6A5	SO:0001630	splice_region_variant	0			-	HGNC	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.668-1T>C	3.37:g.130098262T>C		Somatic	0	19	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	14	41.67	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.V223	ENST00000432398.2	37	c.669		3																																																																																			-	NULL		0.433	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	protein_coding		T	NM_153264	-	Silent	130098262	+1	no_errors	ENST00000265379	ensembl	human	known	74_37	silent	SNP	0.206	C
HLA-DQA2	3118	genome.wustl.edu	37	6	32712940	32712940	+	Missense_Mutation	SNP	C	C	G	rs369556704	byFrequency	TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr6:32712940C>G	ENST00000374940.3	+	2	189	c.87C>G	c.(85-87)gaC>gaG	p.D29E		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	29	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					"""""""Insulin(DB00071)"""	CGTCAGCTGACCATGTTGCCT	0.473																																																	0								ENSG00000237541						204.0	204.0	204.0					6																	32712940		1511	2709	4220	HLA-DQA2	SO:0001583	missense	0			-	HGNC		CCDS4753.1	6p21.3	2013-01-11			ENSG00000237541	ENSG00000237541		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4943	protein-coding gene	gene with protein product		613503		HLA-DXA			Standard	NM_020056		Approved		uc003obx.3	P01906	OTTHUMG00000031108	ENST00000374940.3:c.87C>G	6.37:g.32712940C>G	ENSP00000364076:p.Asp29Glu	Somatic	0	30	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	17	32.00	A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_MHC_II_a_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like_dom	p.D29E	ENST00000374940.3	37	c.87	CCDS4753.1	6	.	.	.	.	.	.	.	.	.	.	.	11.36	1.615788	0.28801	.	.	ENSG00000237541	ENST00000374940	T	0.00760	5.73	3.16	2.27	0.28462	MHC class II, alpha/beta chain, N-terminal (1);MHC classes I/II-like antigen recognition protein (1);MHC class II, alpha chain, N-terminal (1);	0.555807	0.18762	U	0.131856	T	0.01489	0.0048	M	0.86740	2.835	0.25401	N	0.988449	D	0.76494	0.999	D	0.73708	0.981	T	0.46512	-0.9186	10	0.39692	T	0.17	.	6.234	0.20752	0.0:0.8519:0.0:0.1481	.	29	P01906	DQA2_HUMAN	E	29	ENSP00000364076:D29E	ENSP00000364076:D29E	D	+	3	2	HLA-DQA2	32820918	0.083000	0.21467	0.984000	0.44739	0.027000	0.11550	-1.308000	0.02730	0.644000	0.30656	0.384000	0.25694	GAC	-	pfam_MHC_II_a_N,superfamily_MHC_I/II-like_Ag-recog		0.473	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	HLA-DQA2	protein_coding	OTTHUMT00000076179.2	C	NM_020056	-		32712940	+1	no_errors	ENST00000374940	ensembl	human	known	74_37	missense	SNP	0.995	G
FAM53B	9679	genome.wustl.edu	37	10	126311826	126311826	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr10:126311826C>A	ENST00000337318.3	-	5	1465	c.1254G>T	c.(1252-1254)caG>caT	p.Q418H	RP11-12J10.3_ENST00000494792.1_Intron|FAM53B_ENST00000392754.3_Missense_Mutation_p.Q418H	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	418										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		TCTTCTCTATCTGCTCAATGT	0.677																																																	0								ENSG00000189319						61.0	65.0	64.0					10																	126311826		2118	4147	6265	FAM53B	SO:0001583	missense	0			-	HGNC	D50930	CCDS7641.1	10q26.13	2004-11-24	2004-11-24	2004-11-24	ENSG00000189319	ENSG00000189319			28968	protein-coding gene	gene with protein product			"""KIAA0140"""	KIAA0140		8590280	Standard	NM_014661		Approved	bA12J10.2	uc001lhv.1	Q14153	OTTHUMG00000019215	ENST00000337318.3:c.1254G>T	10.37:g.126311826C>A	ENSP00000338532:p.Gln418His	Somatic	0	43	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	28	17.65	D3DRF1|Q5VUW1|Q5VUW2|Q8N5S6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.Q418H	ENST00000337318.3	37	c.1254	CCDS7641.1	10	.	.	.	.	.	.	.	.	.	.	C	18.00	3.526215	0.64860	.	.	ENSG00000189319	ENST00000337318;ENST00000392754	.	.	.	5.08	2.17	0.27698	.	0.071997	0.56097	D	0.000026	T	0.65207	0.2669	L	0.47716	1.5	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	T	0.65134	-0.6242	9	0.87932	D	0	-8.0732	8.7385	0.34543	0.0:0.7564:0.0:0.2436	.	418	Q14153	FA53B_HUMAN	H	418	.	ENSP00000338532:Q418H	Q	-	3	2	FAM53B	126301816	0.997000	0.39634	1.000000	0.80357	0.897000	0.52465	0.200000	0.17257	0.727000	0.32360	-0.150000	0.13652	CAG	-	NULL		0.677	FAM53B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM53B	protein_coding	OTTHUMT00000050879.1	C	NM_014661	-		126311826	-1	no_errors	ENST00000337318	ensembl	human	known	74_37	missense	SNP	1.000	A
CALD1	800	genome.wustl.edu	37	7	134632457	134632457	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr7:134632457G>T	ENST00000361675.2	+	8	1960	c.1731G>T	c.(1729-1731)aaG>aaT	p.K577N	CALD1_ENST00000422748.1_Missense_Mutation_p.K348N|CALD1_ENST00000393118.2_Missense_Mutation_p.K342N|CALD1_ENST00000417172.1_Missense_Mutation_p.K322N|CALD1_ENST00000495522.1_Missense_Mutation_p.K342N|CALD1_ENST00000424922.1_Missense_Mutation_p.K316N|CALD1_ENST00000361388.2_Missense_Mutation_p.K348N|CALD1_ENST00000361901.2_Missense_Mutation_p.K322N|CALD1_ENST00000543443.1_Missense_Mutation_p.K327N			Q05682	CALD1_HUMAN	caldesmon 1	577	Tropomyosin-binding. {ECO:0000255}.				cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						agagaaggaaggtcctggagg	0.577																																																	0								ENSG00000122786						41.0	41.0	41.0					7																	134632457		2203	4300	6503	CALD1	SO:0001583	missense	0			-	HGNC	M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.1731G>T	7.37:g.134632457G>T	ENSP00000354826:p.Lys577Asn	Somatic	0	55	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	22	52.17	A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Caldesmon_LSP,prints_Caldesmon	p.K348N	ENST00000361675.2	37	c.1044	CCDS5835.1	7	.	.	.	.	.	.	.	.	.	.	G	14.13	2.442354	0.43326	.	.	ENSG00000122786	ENST00000417172;ENST00000436461;ENST00000361388;ENST00000422748;ENST00000361675;ENST00000361901;ENST00000393118;ENST00000424922;ENST00000495522;ENST00000543443	T;T;T;T;T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63	5.58	1.67	0.24075	.	0.258292	0.26808	N	0.022396	T	0.63141	0.2486	M	0.81942	2.565	0.46874	D	0.999239	P;D;D;D;D;D;D;D;D;D	0.58620	0.946;0.979;0.983;0.983;0.979;0.979;0.979;0.979;0.983;0.983	P;P;P;P;P;P;P;P;P;P	0.62649	0.775;0.801;0.825;0.905;0.732;0.732;0.732;0.732;0.905;0.874	T	0.61778	-0.6993	10	0.62326	D	0.03	-17.2794	8.8455	0.35168	0.3262:0.0:0.6738:0.0	.	271;327;348;342;316;342;322;348;577;322	B4DPW5;F5H1Z9;A8K0X1;E7EX44;Q05682-5;Q05682-3;Q05682-4;Q05682-2;Q05682;Q9NYG1	.;.;.;.;.;.;.;.;CALD1_HUMAN;.	N	322;322;348;348;577;322;342;316;342;327	ENSP00000398826:K322N;ENSP00000411476:K322N;ENSP00000355000:K348N;ENSP00000395710:K348N;ENSP00000354826:K577N;ENSP00000354513:K322N;ENSP00000376826:K342N;ENSP00000393621:K316N;ENSP00000419673:K342N;ENSP00000445641:K327N	ENSP00000355000:K348N	K	+	3	2	CALD1	134282997	1.000000	0.71417	0.995000	0.50966	0.572000	0.35998	2.047000	0.41269	0.025000	0.15241	0.563000	0.77884	AAG	-	pfam_Caldesmon_LSP		0.577	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	CALD1	protein_coding	OTTHUMT00000339939.1	G	NM_033138	-		134632457	+1	no_errors	ENST00000361388	ensembl	human	known	74_37	missense	SNP	1.000	T
HELLS	3070	genome.wustl.edu	37	10	96313980	96313980	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr10:96313980C>T	ENST00000348459.5	+	3	356	c.251C>T	c.(250-252)aCg>aTg	p.T84M	HELLS_ENST00000394045.1_Missense_Mutation_p.T84M|HELLS_ENST00000462057.1_3'UTR|HELLS_ENST00000371332.4_Missense_Mutation_p.T84M|HELLS_ENST00000239026.6_Missense_Mutation_p.T84M|HELLS_ENST00000394044.1_Missense_Mutation_p.T84M|HELLS_ENST00000394036.1_Missense_Mutation_p.T84M	NM_018063.3	NP_060533.2			helicase, lymphoid-specific											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		TTTTTATTGACGAAAATGGAA	0.313																																																	0								ENSG00000119969						67.0	75.0	72.0					10																	96313980		2203	4300	6503	HELLS	SO:0001583	missense	0			-	HGNC	AF155827	CCDS7434.1, CCDS73162.1, CCDS73163.1, CCDS73164.1, CCDS73165.1	10q24.2	2008-08-01			ENSG00000119969	ENSG00000119969			4861	protein-coding gene	gene with protein product	"""SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6"", ""proliferation-associated SNF2-like protein"""	603946				9878251, 10910076	Standard	NM_018063		Approved	PASG, SMARCA6, LSH, Nbla10143	uc001kjt.3	Q9NRZ9	OTTHUMG00000018793	ENST00000348459.5:c.251C>T	10.37:g.96313980C>T	ENSP00000239027:p.Thr84Met	Somatic	0	68	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	41	32.79		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.T84M	ENST00000348459.5	37	c.251	CCDS7434.1	10	.	.	.	.	.	.	.	.	.	.	C	21.4	4.143974	0.77888	.	.	ENSG00000119969	ENST00000419900;ENST00000348459;ENST00000394045;ENST00000394044;ENST00000394036;ENST00000371332;ENST00000239026	T;T;D;T	0.95756	0.49;0.49;-3.8;0.49	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	D	0.96552	0.8875	L	0.47716	1.5	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.973;0.996;0.997;0.973	D	0.97168	0.9842	10	0.72032	D	0.01	-1.1981	15.5318	0.75970	0.0:1.0:0.0:0.0	.	84;84;84;84	Q6I7N8;Q9NRZ9-6;Q9NRZ9-5;Q9NRZ9	.;.;.;HELLS_HUMAN	M	68;84;84;84;84;84;84	ENSP00000239027:T84M;ENSP00000377609:T84M;ENSP00000377608:T84M;ENSP00000360383:T84M	ENSP00000239026:T84M	T	+	2	0	HELLS	96303970	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.802000	0.75175	2.238000	0.73509	0.585000	0.79938	ACG	-	NULL		0.313	HELLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HELLS	protein_coding	OTTHUMT00000049475.1	C	NM_018063	-		96313980	+1	no_errors	ENST00000371332	ensembl	human	known	74_37	missense	SNP	1.000	T
MBD6	114785	genome.wustl.edu	37	12	57919428	57919428	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr12:57919428C>T	ENST00000355673.3	+	6	1033	c.677C>T	c.(676-678)tCa>tTa	p.S226L	MBD6_ENST00000431731.2_Missense_Mutation_p.S226L	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	226	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						AATGCTCCCTCATACAACTGG	0.647																																																	0								ENSG00000166987						103.0	118.0	113.0					12																	57919428		2203	4300	6503	MBD6	SO:0001583	missense	0			-	HGNC	AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.677C>T	12.37:g.57919428C>T	ENSP00000347896:p.Ser226Leu	Somatic	0	20	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	18	35.71	Q8N3M0|Q8NA81|Q96Q00	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd	p.S226L	ENST00000355673.3	37	c.677	CCDS8944.1	12	.	.	.	.	.	.	.	.	.	.	c	15.41	2.825120	0.50739	.	.	ENSG00000166987	ENST00000355673;ENST00000431731	.	.	.	3.37	3.37	0.38596	.	1.662290	0.04361	U	0.357535	T	0.42630	0.1211	N	0.08118	0	0.33924	D	0.64123	B;D	0.56968	0.007;0.978	B;P	0.52554	0.038;0.702	T	0.49153	-0.8969	8	.	.	.	-1.1593	12.7608	0.57363	0.0:1.0:0.0:0.0	.	226;226	Q6P0P0;Q96DN6	.;MBD6_HUMAN	L	226	.	.	S	+	2	0	MBD6	56205695	0.306000	0.24490	0.995000	0.50966	0.992000	0.81027	1.502000	0.35704	2.173000	0.68751	0.444000	0.29173	TCA	-	NULL		0.647	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD6	protein_coding	OTTHUMT00000407250.1	C		-		57919428	+1	no_errors	ENST00000355673	ensembl	human	known	74_37	missense	SNP	1.000	T
PTPRB	5787	genome.wustl.edu	37	12	71016412	71016412	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr12:71016412C>T	ENST00000550358.1	-	3	491	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000334414.6_Missense_Mutation_p.E156K|PTPRB_ENST00000551525.1_Missense_Mutation_p.E155K			P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	0	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ACCGAAACTTCTGCTCCCAGG	0.408																																																	0								ENSG00000127329						29.0	31.0	30.0					12																	71016412		1838	4091	5929	PTPRB	SO:0001583	missense	0			-	HGNC	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000550358.1:c.466G>A	12.37:g.71016412C>T	ENSP00000448058:p.Glu156Lys	Somatic	0	46	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	134	182	42.41	B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.E156K	ENST00000550358.1	37	c.466		12	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347238	0.82022	.	.	ENSG00000127329	ENST00000334414;ENST00000550358;ENST00000544694;ENST00000551525	T;T;T	0.05925	3.91;3.86;3.37	5.42	5.42	0.78866	.	.	.	.	.	T	0.11196	0.0273	L	0.27053	0.805	0.80722	D	1	D;P;P;P	0.59767	0.986;0.925;0.925;0.925	P;P;P;P	0.53266	0.722;0.54;0.54;0.54	T	0.02484	-1.1152	9	0.56958	D	0.05	.	17.3726	0.87382	0.0:1.0:0.0:0.0	.	156;155;156;156	Q6ZTX7;F8VSD5;P23467-3;F8VU56	.;.;.;.	K	156;156;156;155	ENSP00000334928:E156K;ENSP00000448058:E156K;ENSP00000448349:E155K	ENSP00000334928:E156K	E	-	1	0	PTPRB	69302679	1.000000	0.71417	1.000000	0.80357	0.517000	0.34286	1.904000	0.39868	2.691000	0.91804	0.655000	0.94253	GAA	-	NULL		0.408	PTPRB-003	NOVEL	basic|exp_conf	protein_coding	PTPRB	protein_coding	OTTHUMT00000404436.1	C		-		71016412	-1	no_errors	ENST00000334414	ensembl	human	known	74_37	missense	SNP	1.000	T
TENM2	57451	genome.wustl.edu	37	5	167617486	167617486	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr5:167617486G>T	ENST00000518659.1	+	14	2753	c.2714G>T	c.(2713-2715)cGt>cTt	p.R905L	TENM2_ENST00000545108.1_Missense_Mutation_p.R905L|CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000520394.1_Missense_Mutation_p.R673L|TENM2_ENST00000403607.2_Missense_Mutation_p.R729L|TENM2_ENST00000519204.1_Missense_Mutation_p.R784L	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	905					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										TTCTATGACCGTATCAAGCTC	0.577																																																	0								ENSG00000145934						57.0	57.0	57.0					5																	167617486		1990	4164	6154	TENM2	SO:0001583	missense	0			-	HGNC	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.2714G>T	5.37:g.167617486G>T	ENSP00000429430:p.Arg905Leu	Somatic	0	60	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	26	10.34	Q9ULU2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	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_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.R905L	ENST00000518659.1	37	c.2714		5	.	.	.	.	.	.	.	.	.	.	G	35	5.501235	0.96371	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.92647	-2.58;-2.58;-2.75;-3.01;-3.08	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.96103	0.8730	M	0.73598	2.24	0.58432	D	0.999999	D;D;D	0.69078	0.993;0.988;0.997	D;P;D	0.75484	0.954;0.901;0.986	D	0.95965	0.8965	10	0.87932	D	0	.	20.1006	0.97874	0.0:0.0:1.0:0.0	.	905;905;673	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	L	905;905;784;673;729	ENSP00000429430:R905L;ENSP00000438635:R905L;ENSP00000428964:R784L;ENSP00000427874:R673L;ENSP00000384905:R729L	ENSP00000384905:R729L	R	+	2	0	ODZ2	167550064	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.869000	0.99810	2.757000	0.94681	0.561000	0.74099	CGT	-	superfamily_ConA-like_lec_gl_sf		0.577	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	TENM2	protein_coding	OTTHUMT00000376096.1	G	NM_001122679	-		167617486	+1	no_errors	ENST00000518659	ensembl	human	known	74_37	missense	SNP	1.000	T
TVP23C	201158	genome.wustl.edu	37	17	15443775	15443775	+	Intron	SNP	G	G	A			TCGA-DX-AB35-01A-21D-A417-09	TCGA-DX-AB35-11A-11D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797	7f0069c9-21bd-456c-808f-b7604c8e6d10	g.chr17:15443775G>A	ENST00000225576.3	-	5	558				TVP23C_ENST00000438826.3_Missense_Mutation_p.S188L|TVP23C_ENST00000518321.1_Missense_Mutation_p.S188L|TVP23C_ENST00000584811.1_Missense_Mutation_p.S124L|TVP23C_ENST00000519970.1_Missense_Mutation_p.S102L|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000428082.2_Missense_Mutation_p.S188L|TVP23C_ENST00000583206.1_5'Flank	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)							integral component of membrane (GO:0016021)											TCCAAAATATGAAGTAGCCAT	0.378																																																	0								ENSG00000175106						38.0	31.0	33.0					17																	15443775		692	1578	2270	TVP23C	SO:0001627	intron_variant	0			-	HGNC	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B2"""	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.462+5323C>T	17.37:g.15443775G>A		Somatic	0	29	0.00		0.7167607494961217	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	35	16.67	Q3LIC7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DUF846_euk	p.S188L	ENST00000225576.3	37	c.563	CCDS11170.1	17	.	.	.	.	.	.	.	.	.	.	.	13.18	2.161592	0.38119	.	.	ENSG00000259024;ENSG00000175106;ENSG00000175106;ENSG00000175106	ENST00000557349;ENST00000519970;ENST00000428082;ENST00000438826	T;T;T	0.33438	2.36;1.41;1.41	5.36	4.39	0.52855	.	.	.	.	.	T	0.27798	0.0684	L	0.49513	1.565	0.37713	D	0.924658	B;B	0.15473	0.013;0.0	B;B	0.16722	0.016;0.004	T	0.18085	-1.0348	9	0.62326	D	0.03	.	8.262	0.31790	0.0801:0.0:0.7646:0.1553	.	102;188	B4E0Q0;Q96ET8-3	.;.	L	102;102;188;188	ENSP00000428961:S102L;ENSP00000406387:S188L;ENSP00000413355:S188L	ENSP00000406387:S188L	S	-	2	0	RP11-726O12.1;FAM18B2	15384500	1.000000	0.71417	0.116000	0.21606	0.611000	0.37282	3.371000	0.52379	1.404000	0.46819	0.650000	0.86243	TCA	-	NULL		0.378	TVP23C-001	KNOWN	basic|CCDS	protein_coding	TVP23C	protein_coding	OTTHUMT00000130705.2	G	NM_145301	-		15443775	-1	no_errors	ENST00000518321	ensembl	human	known	74_37	missense	SNP	0.959	A
