#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	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_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	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_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_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ADD1	118	broad.mit.edu	37	4	2877722	2877722	+	Missense_Mutation	SNP	G	G	C			TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr4:2877722G>C	ENST00000398129.1	+	1	100	c.80G>C	c.(79-81)cGa>cCa	p.R27P	ADD1_ENST00000446856.1_Missense_Mutation_p.R27P|ADD1_ENST00000398125.1_Missense_Mutation_p.R27P|ADD1_ENST00000355842.3_Missense_Mutation_p.R27P|ADD1_ENST00000398123.2_Missense_Mutation_p.R27P|ADD1_ENST00000264758.7_Missense_Mutation_p.R27P|ADD1_ENST00000513328.2_Missense_Mutation_p.R27P|ADD1_ENST00000503455.2_Missense_Mutation_p.R27P			P35611	ADDA_HUMAN	adducin 1 (alpha)	27					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cell morphogenesis (GO:0000902)|cell volume homeostasis (GO:0006884)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|endoplasmic reticulum unfolded protein response (GO:0030968)|erythrocyte differentiation (GO:0030218)|hemoglobin metabolic process (GO:0020027)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein binding (GO:0032092)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|F-actin capping protein complex (GO:0008290)|focal adhesion (GO:0005925)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TACTTCGACCGAGTAGATGAG	0.527																																					Esophageal Squamous(71;505 1201 20414 34538 37449)	ENST00000355842.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22						c.(79-81)cGa>cCa		adducin 1 (alpha)							135.0	134.0	135.0					4																	2877722		2203	4300	6503	SO:0001583	missense	118				actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding	g.chr4:2877722G>C	L07261	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	4p16.3	2009-04-22			ENSG00000087274	ENSG00000087274			243	protein-coding gene	gene with protein product		102680				1840603	Standard	NM_001119		Approved		uc003gfq.3	P35611	OTTHUMG00000122080	ENST00000398129.1:c.80G>C	4.37:g.2877722G>C	ENSP00000381197:p.Arg27Pro		Somatic				ADD1_ENST00000503455.2_Missense_Mutation_p.R27P|ADD1_ENST00000398123.2_Missense_Mutation_p.R27P|ADD1_ENST00000264758.7_Missense_Mutation_p.R27P|ADD1_ENST00000398129.1_Missense_Mutation_p.R27P|ADD1_ENST00000513328.2_Missense_Mutation_p.R27P|ADD1_ENST00000446856.1_Missense_Mutation_p.R27P|ADD1_ENST00000398125.1_Missense_Mutation_p.R27P	p.R27P			WXS	Illumina GAIIx	Phase_I	P35611	ADDA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	3	943	+			27					A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Missense_Mutation	SNP	ENST00000398129.1	37	c.80G>C	CCDS43205.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.382494	0.82792	.	.	ENSG00000087274	ENST00000264758;ENST00000446856;ENST00000398125;ENST00000398124;ENST00000511797;ENST00000513328;ENST00000508277;ENST00000503455;ENST00000355842;ENST00000398123;ENST00000398129	T;T;T;T;T;T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.59998	0.2235	M	0.80616	2.505	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.998;1.0;0.999	D;D;D;D;D;D;D	0.87578	0.996;0.996;0.998;0.996;0.995;0.998;0.983	T	0.65092	-0.6252	10	0.72032	D	0.01	-12.8883	18.4459	0.90683	0.0:0.0:1.0:0.0	.	27;27;27;27;27;27;27	E7ENY0;B4DI79;Q86XM2;P35611;P35611-3;P35611-2;A2A3N8	.;.;.;ADDA_HUMAN;.;.;.	P	27	ENSP00000264758:R27P;ENSP00000399828:R27P;ENSP00000381193:R27P;ENSP00000421918:R27P;ENSP00000421907:R27P;ENSP00000426700:R27P;ENSP00000423024:R27P;ENSP00000348100:R27P;ENSP00000381191:R27P;ENSP00000381197:R27P	ENSP00000264758:R27P	R	+	2	0	ADD1	2847520	1.000000	0.71417	0.979000	0.43373	0.571000	0.35966	7.529000	0.81952	2.597000	0.87782	0.591000	0.81541	CGA		0.527	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242840.1	NM_014189		31	44	0	0	0	1	0	31	44				
GP2	2813	broad.mit.edu	37	16	20331019	20331019	+	Silent	SNP	G	G	T			TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr16:20331019G>T	ENST00000381362.4	-	7	1015	c.939C>A	c.(937-939)atC>atA	p.I313I	GP2_ENST00000573897.1_5'UTR|GP2_ENST00000341642.5_Silent_p.I163I|GP2_ENST00000381360.5_Silent_p.I166I|GP2_ENST00000302555.5_Silent_p.I310I	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	313	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TGATGTTGAGGATGGTGTCTC	0.448																																						ENST00000302555.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(928-930)atC>atA		glycoprotein 2 (zymogen granule membrane)							410.0	377.0	388.0					16																	20331019		2203	4300	6503	SO:0001819	synonymous_variant	2813					anchored to membrane|extracellular region|plasma membrane		g.chr16:20331019G>T	U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.939C>A	16.37:g.20331019G>T			Somatic				GP2_ENST00000573897.1_5'UTR|GP2_ENST00000341642.5_Silent_p.I163I|GP2_ENST00000381360.5_Silent_p.I166I|GP2_ENST00000381362.4_Silent_p.I313I	p.I310I			WXS	Illumina GAIIx	Phase_I	P55259	GP2_HUMAN			6	1079	-			313			ZP.		A6NFM9|A6NJA8|Q13338|Q9UIF1	Silent	SNP	ENST00000381362.4	37	c.930C>A	CCDS42128.1																																																																																				0.448	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295		82	77	1	0	1.5608e-48	1	1.80724e-48	82	77				
TMOD2	29767	broad.mit.edu	37	15	52065948	52065948	+	Missense_Mutation	SNP	G	G	A	rs114844653	byFrequency	TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr15:52065948G>A	ENST00000249700.4	+	4	544	c.323G>A	c.(322-324)cGt>cAt	p.R108H	TMOD2_ENST00000539962.2_Missense_Mutation_p.R64H|TMOD2_ENST00000435126.2_Missense_Mutation_p.R108H	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN	tropomodulin 2 (neuronal)	108					learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuron-neuron synaptic transmission (GO:0007270)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)	tropomyosin binding (GO:0005523)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		ATAGAAACTCGTAAAGAAGAA	0.408																																						ENST00000249700.4																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(322-324)cGt>cAt		tropomodulin 2 (neuronal)		G	HIS/ARG,HIS/ARG	0,4390		0,0,2195	104.0	103.0	104.0		323,323	-5.4	0.0	15	dbSNP_132	104	1,8585	1.2+/-3.3	0,1,4292	no	missense,missense	TMOD2	NM_014548.3,NM_001142885.1	29,29	0,1,6487	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	108/352,108/316	52065948	1,12975	2195	4293	6488	SO:0001583	missense	29767				nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding	g.chr15:52065948G>A	AF177169	CCDS10144.1, CCDS45260.1	15q21.2	2008-05-14			ENSG00000128872	ENSG00000128872			11872	protein-coding gene	gene with protein product		602928				10662549	Standard	NM_014548		Approved	NTMOD	uc002abk.3	Q9NZR1	OTTHUMG00000131805	ENST00000249700.4:c.323G>A	15.37:g.52065948G>A	ENSP00000249700:p.Arg108His		Somatic				TMOD2_ENST00000435126.2_Missense_Mutation_p.R108H|TMOD2_ENST00000539962.2_Missense_Mutation_p.R64H	p.R108H	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	WXS	Illumina GAIIx	Phase_I	Q9NZR1	TMOD2_HUMAN		all cancers(107;0.00435)	4	544	+			108					B4DEW6	Missense_Mutation	SNP	ENST00000249700.4	37	c.323G>A	CCDS10144.1	.	.	.	.	.	.	.	.	.	.	G	9.502	1.103365	0.20632	0.0	1.16E-4	ENSG00000128872	ENST00000435126;ENST00000249700;ENST00000539962	T;T;T	0.31247	1.5;1.5;1.5	5.36	-5.36	0.02689	.	0.337879	0.32518	N	0.005991	T	0.10078	0.0247	N	0.08118	0	0.21473	N	0.999674	B;B	0.10296	0.003;0.0	B;B	0.08055	0.003;0.003	T	0.06463	-1.0825	10	0.36615	T	0.2	3.3239	4.0375	0.09737	0.5078:0.1136:0.2861:0.0924	.	108;108	Q9NZR1-2;Q9NZR1	.;TMOD2_HUMAN	H	108;108;64	ENSP00000404590:R108H;ENSP00000249700:R108H;ENSP00000437743:R64H	ENSP00000249700:R108H	R	+	2	0	TMOD2	49853240	0.000000	0.05858	0.004000	0.12327	0.997000	0.91878	-0.646000	0.05403	-0.907000	0.03862	0.655000	0.94253	CGT		0.408	TMOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254742.2			44	39	0	0	0	1	0	44	39				
CSMD3	114788	broad.mit.edu	37	8	113702197	113702197	+	Silent	SNP	A	A	T			TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr8:113702197A>T	ENST00000297405.5	-	14	2299	c.2055T>A	c.(2053-2055)gtT>gtA	p.V685V	CSMD3_ENST00000352409.3_Silent_p.V685V|CSMD3_ENST00000343508.3_Silent_p.V645V|CSMD3_ENST00000455883.2_Silent_p.V581V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	685	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAAACCTTAAAACATCACGAT	0.358										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(2053-2055)gtT>gtA		CUB and Sushi multiple domains 3							168.0	174.0	172.0					8																	113702197		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113702197A>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2055T>A	8.37:g.113702197A>T		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)	Somatic				CSMD3_ENST00000455883.2_Silent_p.V581V|CSMD3_ENST00000343508.3_Silent_p.V645V|CSMD3_ENST00000352409.3_Silent_p.V685V	p.V685V	NM_198123.1	NP_937756.1	WXS	Illumina GAIIx	Phase_I	Q7Z407	CSMD3_HUMAN			14	2299	-			685			Sushi 3.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.2055T>A	CCDS6315.1																																																																																				0.358	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		66	178	0	0	0	1	0	66	178				
SF3B1	23451	broad.mit.edu	37	2	198267483	198267483	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr2:198267483C>T	ENST00000335508.6	-	14	1965	c.1874G>A	c.(1873-1875)cGt>cAt	p.R625H	SF3B1_ENST00000462613.1_5'Flank|SNORA4_ENST00000365564.1_RNA	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	625					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.R625L(9)|p.R625P(2)|p.R625H(1)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TGTTGTGTTACGGACATACTC	0.438			Mis		myelodysplastic syndrome																																	ENST00000335508.6				Dom	yes		2	2q33.1	23451	Mis	"""splicing factor 3b, subunit 1, 155kDa"""			L			myelodysplastic syndrome		12	Substitution - Missense(12)	p.R625L(9)|p.R625P(2)|p.R625H(1)	haematopoietic_and_lymphoid_tissue(8)|urinary_tract(1)|salivary_gland(1)|central_nervous_system(1)|skin(1)	NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(1873-1875)cGt>cAt		splicing factor 3b, subunit 1, 155kDa							95.0	92.0	93.0					2																	198267483		2203	4300	6503	SO:0001583	missense	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198267483C>T	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.1874G>A	2.37:g.198267483C>T	ENSP00000335321:p.Arg625His		Somatic					p.R625H	NM_012433.2	NP_036565.2	WXS	Illumina GAIIx	Phase_I	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		14	1965	-								E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.1874G>A	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	C	35	5.485860	0.96323	.	.	ENSG00000115524	ENST00000335508	T	0.74421	-0.84	5.82	5.82	0.92795	Armadillo-like helical (1);Armadillo-type fold (1);	0.053241	0.64402	D	0.000001	D	0.91369	0.7277	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93329	0.6699	10	0.87932	D	0	.	20.0991	0.97865	0.0:1.0:0.0:0.0	.	625	O75533	SF3B1_HUMAN	H	625	ENSP00000335321:R625H	ENSP00000335321:R625H	R	-	2	0	SF3B1	197975728	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.728000	0.84847	2.752000	0.94435	0.655000	0.94253	CGT		0.438	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			22	35	0	0	0	1	0	22	35				
LILRA1	11024	broad.mit.edu	37	19	55106755	55106755	+	Silent	SNP	T	T	C			TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr19:55106755T>C	ENST00000251372.3	+	5	731	c.549T>C	c.(547-549)tcT>tcC	p.S183S	LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000453777.1_Silent_p.S183S|LILRA1_ENST00000473156.1_3'UTR	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	183	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)	p.S183S(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CCATCTTCTCTGTGGGCCCCG	0.567																																						ENST00000453777.1																			1	Substitution - coding silent(1)	p.S183S(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47						c.(547-549)tcT>tcC		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1							155.0	158.0	157.0					19																	55106755		2203	4300	6503	SO:0001819	synonymous_variant	11024				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	g.chr19:55106755T>C	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.549T>C	19.37:g.55106755T>C			Somatic				LILRA1_ENST00000251372.3_Silent_p.S183S|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron	p.S183S	NM_001278318.1	NP_001265247.1	WXS	Illumina GAIIx	Phase_I	O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)	5	719	+			183			Ig-like C2-type 2.		O75018|Q3MJA6	Silent	SNP	ENST00000251372.3	37	c.549T>C	CCDS12901.1																																																																																				0.567	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		4	155	0	0	0	1	0	4	155				
CENPE	1062	broad.mit.edu	37	4	104062907	104062907	+	Splice_Site	SNP	C	C	G			TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr4:104062907C>G	ENST00000265148.3	-	35	5552	c.5463G>C	c.(5461-5463)aaG>aaC	p.K1821N	CENPE_ENST00000380026.3_Splice_Site_p.K1796N	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1821					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		ATAAAAATACCTTTTCTTGTA	0.313																																						ENST00000265148.3																			0				NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101						c.(5461-5463)aaG>aaC		centromere protein E, 312kDa							67.0	64.0	65.0					4																	104062907		2202	4298	6500	SO:0001630	splice_region_variant	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104062907C>G	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.5463+1G>C	4.37:g.104062907C>G			Somatic				CENPE_ENST00000380026.3_Splice_Site_p.K1796N	p.K1821N	NM_001813.2	NP_001804.2	WXS	Illumina GAIIx	Phase_I	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	35	5552	-			1821					A6NKY9|A8K2U7|Q4LE75	Splice_Site	SNP	ENST00000265148.3	37	c.5463G>C	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.902313	0.52227	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	T;T	0.71341	-0.56;-0.56	4.01	4.01	0.46588	.	.	.	.	.	D	0.82323	0.5012	M	0.78801	2.425	0.36445	D	0.865731	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.94	D	0.85866	0.1413	8	.	.	.	.	11.5291	0.50597	0.0:1.0:0.0:0.0	.	1796;1821	Q02224-3;Q02224	.;CENPE_HUMAN	N	1821;1821;1796	ENSP00000265148:K1821N;ENSP00000369365:K1796N	.	K	-	3	2	CENPE	104282356	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.531000	0.53546	2.069000	0.61940	0.643000	0.83706	AAG		0.313	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			Missense_Mutation	9	6	0	0	0	1	0	9	6				
ZAN	7455	broad.mit.edu	37	7	100350456	100350456	+	RNA	SNP	C	C	A			TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr7:100350456C>A	ENST00000348028.3	+	0	2893				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P910T(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CACCATCTCCCCAGAAAAACC	0.498																																						ENST00000542585.1																			2	Substitution - Missense(2)	p.P910T(2)	lung(2)	NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							301.0	352.0	336.0					7																	100350456		1867	4094	5961			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350456C>A	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350456C>A			Somatic				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA		NM_003386.1	NP_003377.1	WXS	Illumina GAIIx	Phase_I	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	2876	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	c	2.768	-0.256356	0.05829	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.60040	0.22;0.22;0.22	3.73	-2.37	0.06643	.	.	.	.	.	T	0.16854	0.0405	N	0.00152	-1.975	0.09310	N	0.999999	B;B	0.09022	0.0;0.002	B;B	0.06405	0.0;0.002	T	0.29518	-1.0009	9	0.39692	T	0.17	.	6.5397	0.22372	0.403:0.4521:0.0:0.1449	.	910;910	F5H0T8;Q9Y493	.;ZAN_HUMAN	T	910	ENSP00000445943:P910T;ENSP00000445091:P910T;ENSP00000444427:P910T	ENSP00000423579:P910T	P	+	1	0	ZAN	100188392	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.441000	0.02409	-0.158000	0.11040	-0.346000	0.07831	CCA		0.498	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		7	119	1	0	0.00307968	1	0.00338765	7	119				
CHST9	83539	broad.mit.edu	37	18	24496802	24496802	+	Silent	SNP	G	G	A			TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr18:24496802G>A	ENST00000284224.8	-	6	1030	c.753C>T	c.(751-753)taC>taT	p.Y251Y	CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000578701.1_RNA|CHST9_ENST00000581714.1_Silent_p.Y251Y|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000582605.1_RNA	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	251					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					AATGCTTCCCGTAGTGGACAG	0.423																																						ENST00000284224.8																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28						c.(751-753)taC>taT		carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9							148.0	135.0	139.0					18																	24496802		1886	4111	5997	SO:0001819	synonymous_variant	83539				carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr18:24496802G>A	AF239821	CCDS42422.1, CCDS58618.1	18q11.2	2011-04-28			ENSG00000154080	ENSG00000154080		"""Sulfotransferases, membrane-bound"""	19898	protein-coding gene	gene with protein product		610191				11139592, 11445554	Standard	NM_031422		Approved	GALNAC4ST-2, GALNAC-4-ST2	uc002kwe.4	Q7L1S5		ENST00000284224.8:c.753C>T	18.37:g.24496802G>A			Somatic				CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000568797.1_RNA|CHST9_ENST00000581714.1_Silent_p.Y251Y|AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000582605.1_RNA	p.Y251Y	NM_031422.5	NP_113610.2	WXS	Illumina GAIIx	Phase_I	Q7L1S5	CHST9_HUMAN			6	1030	-	all_lung(6;0.0145)|Ovarian(20;0.124)		251					Q6UX69|Q9BXH3|Q9BXH4|Q9BZW9	Silent	SNP	ENST00000284224.8	37	c.753C>T	CCDS42422.1																																																																																				0.423	CHST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446549.1	NM_031422		3	73	0	0	0	1	0	3	73				
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4				Dom	yes		9	9q21	2776	Mis	"""guanine nucleotide binding protein (G protein), q polypeptide"""			E			uveal melanoma		153	Substitution - Missense(153)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cCa		guanine nucleotide binding protein (G protein), q polypeptide							108.0	105.0	106.0					9																	80409488		2203	4300	6503	SO:0001583	missense	2776				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>G		CCDS6658.1	9q21	2010-03-17			ENSG00000156052	ENSG00000156052			4390	protein-coding gene	gene with protein product		600998				8825633	Standard	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	P50148	OTTHUMG00000020059	ENST00000286548.4:c.626A>C	9.37:g.80409488T>G	ENSP00000286548:p.Gln209Pro		Somatic				GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	p.Q209P	NM_002072.3	NP_002063.2	WXS	Illumina GAIIx	Phase_I	P50148	GNAQ_HUMAN			5	848	-			209					O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>C	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614273	0.87359	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98607	1.0661	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	P	209;7	ENSP00000286548:Q209P;ENSP00000443197:Q7P	ENSP00000286548:Q209P	Q	-	2	0	GNAQ	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1	NM_002072		45	55	0	0	0	1	0	45	55				
BTN2A1	11120	broad.mit.edu	37	6	26458919	26458919	+	Missense_Mutation	SNP	C	C	A			TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr6:26458919C>A	ENST00000312541.5	+	2	303	c.55C>A	c.(55-57)Ctc>Atc	p.L19I	BTN2A1_ENST00000541522.1_Intron|BTN2A1_ENST00000429381.1_Missense_Mutation_p.L19I|BTN2A1_ENST00000469185.1_Missense_Mutation_p.L19I	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	19					lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						CCTCCTCCTCCTCCTCAGCCT	0.582																																						ENST00000429381.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						c.(55-57)Ctc>Atc		butyrophilin, subfamily 2, member A1							157.0	121.0	134.0					6																	26458919		2203	4300	6503	SO:0001583	missense	11120				lipid metabolic process	integral to plasma membrane		g.chr6:26458919C>A	U90543	CCDS4613.1, CCDS47390.1, CCDS56404.1, CCDS56405.1	6p22.1	2014-01-14			ENSG00000112763	ENSG00000112763		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1136	protein-coding gene	gene with protein product		613590				9382921, 9149941	Standard	NM_007049		Approved	BT2.1, BTF1, BTN2.1	uc003nib.2	Q7KYR7	OTTHUMG00000014457	ENST00000312541.5:c.55C>A	6.37:g.26458919C>A	ENSP00000312158:p.Leu19Ile		Somatic				BTN2A1_ENST00000312541.5_Missense_Mutation_p.L19I|BTN2A1_ENST00000541522.1_Intron|BTN2A1_ENST00000469185.1_Missense_Mutation_p.L19I	p.L19I			WXS	Illumina GAIIx	Phase_I	Q7KYR7	BT2A1_HUMAN			2	267	+			19					B4DLP9|E9PGR4|O00475|P78408|Q59EN4|Q7KYQ7|Q7Z386|Q96AV7|Q9NU62	Missense_Mutation	SNP	ENST00000312541.5	37	c.55C>A	CCDS4613.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.066627	0.36470	.	.	ENSG00000112763	ENST00000312541;ENST00000429381;ENST00000265424;ENST00000469185	T;T;T	0.80033	-0.63;-1.33;-1.33	3.03	-6.06	0.02165	Immunoglobulin-like (1);	2.830930	0.01625	N	0.023249	T	0.60945	0.2308	M	0.73319	2.225	0.09310	N	0.999997	D;P	0.54397	0.966;0.908	P;B	0.46144	0.505;0.277	T	0.64512	-0.6390	10	0.45353	T	0.12	.	0.458	0.00512	0.3696:0.2048:0.1227:0.3029	.	19;19	Q96AV7;Q7KYR7	.;BT2A1_HUMAN	I	19	ENSP00000312158:L19I;ENSP00000416945:L19I;ENSP00000419043:L19I	ENSP00000265424:L19I	L	+	1	0	BTN2A1	26566898	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.335000	0.02662	-1.982000	0.00988	-0.516000	0.04426	CTC		0.582	BTN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040122.2	NM_007049		4	98	1	0	1	1	1	4	98				
ZNF484	83744	broad.mit.edu	37	9	95608788	95608788	+	Missense_Mutation	SNP	A	A	C			TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr9:95608788A>C	ENST00000375495.3	-	5	2429	c.2281T>G	c.(2281-2283)Tca>Gca	p.S761A	ZNF484_ENST00000395505.2_Missense_Mutation_p.S725A|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000332591.6_Missense_Mutation_p.S725A|ZNF484_ENST00000395506.3_Missense_Mutation_p.S763A	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	761					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TGGAGTTGTGATTTCTTAATG	0.393																																						ENST00000395505.2																			0				NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						c.(2173-2175)Tca>Gca		zinc finger protein 484							130.0	130.0	130.0					9																	95608788		2203	4300	6503	SO:0001583	missense	83744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:95608788A>C	AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"""Zinc fingers, C2H2-type"", ""-"""	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.2281T>G	9.37:g.95608788A>C	ENSP00000364645:p.Ser761Ala		Somatic				ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395506.3_Missense_Mutation_p.S763A|ZNF484_ENST00000332591.6_Missense_Mutation_p.S725A|ZNF484_ENST00000375495.3_Missense_Mutation_p.S761A	p.S725A	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	WXS	Illumina GAIIx	Phase_I	Q5JVG2	ZN484_HUMAN			3	2265	-			761					B1AL89|B4DRI2	Missense_Mutation	SNP	ENST00000375495.3	37	c.2173T>G	CCDS35066.1	.	.	.	.	.	.	.	.	.	.	.	13.44	2.237208	0.39498	.	.	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	T;T;T;T	0.07327	3.2;4.77;4.77;3.2	2.65	1.47	0.22746	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07638	0.0192	L	0.43646	1.37	0.09310	N	1	B;B	0.22800	0.075;0.075	B;B	0.17433	0.018;0.018	T	0.31052	-0.9957	9	0.48119	T	0.1	.	6.5244	0.22293	0.7846:0.0:0.0:0.2154	.	763;761	B4DRI2;Q5JVG2	.;ZN484_HUMAN	A	725;763;761;725	ENSP00000378881:S725A;ENSP00000378882:S763A;ENSP00000364645:S761A;ENSP00000364646:S725A	ENSP00000364646:S725A	S	-	1	0	ZNF484	94648609	0.000000	0.05858	0.995000	0.50966	0.990000	0.78478	-2.050000	0.01404	0.409000	0.25649	0.450000	0.29827	TCA		0.393	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053111.2	XM_046861		40	65	0	0	0	1	0	40	65				
CDHR1	92211	broad.mit.edu	37	10	85956312	85956312	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr10:85956312C>T	ENST00000372117.3	+	3	306	c.203C>T	c.(202-204)tCc>tTc	p.S68F	CDHR1_ENST00000332904.3_Missense_Mutation_p.S68F	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	68	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						GACCCCATCTCCTACCACATC	0.507																																						ENST00000372117.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						c.(202-204)tCc>tTc		cadherin-related family member 1							145.0	124.0	131.0					10																	85956312		2203	4300	6503	SO:0001583	missense	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85956312C>T	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.203C>T	10.37:g.85956312C>T	ENSP00000361189:p.Ser68Phe		Somatic				CDHR1_ENST00000332904.3_Missense_Mutation_p.S68F	p.S68F	NM_033100.2	NP_149091.1	WXS	Illumina GAIIx	Phase_I	Q96JP9	CDHR1_HUMAN			3	306	+			68			Cadherin 1.		Q69YZ8|Q8IXY5	Missense_Mutation	SNP	ENST00000372117.3	37	c.203C>T	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.549780	0.65311	.	.	ENSG00000148600	ENST00000332904;ENST00000372117	T;T	0.52057	0.68;0.68	5.57	5.57	0.84162	Cadherin (4);Cadherin-like (1);	0.519821	0.19853	N	0.104587	T	0.61274	0.2334	L	0.49640	1.575	0.80722	D	1	D;D	0.57571	0.98;0.978	P;P	0.60682	0.807;0.878	T	0.54781	-0.8242	10	0.33141	T	0.24	-28.0597	18.3121	0.90204	0.0:1.0:0.0:0.0	.	68;68	Q96JP9-2;Q96JP9	.;CDHR1_HUMAN	F	68	ENSP00000331063:S68F;ENSP00000361189:S68F	ENSP00000331063:S68F	S	+	2	0	CDHR1	85946292	1.000000	0.71417	0.994000	0.49952	0.750000	0.42670	3.282000	0.51693	2.630000	0.89119	0.561000	0.74099	TCC		0.507	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		29	26	0	0	0	1	0	29	26				
GSG2	83903	broad.mit.edu	37	17	3628701	3628701	+	Missense_Mutation	SNP	G	G	C			TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr17:3628701G>C	ENST00000325418.4	+	1	1491	c.1472G>C	c.(1471-1473)gGg>gCg	p.G491A	ITGAE_ENST00000263087.4_Intron|CTD-3195I5.3_ENST00000571741.1_RNA|ITGAE_ENST00000571185.1_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	491	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				histone H3-T3 phosphorylation involved in chromosome passenger complex localization to kinetochore (GO:2000751)|intracellular signal transduction (GO:0035556)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|protein localization to chromosome, centromeric region (GO:0071459)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)	centrosome (GO:0005813)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|histone kinase activity (H3-T3 specific) (GO:0072354)|protein kinase activity (GO:0004672)										GAGAAGATTGGGGAAGGGGTG	0.458																																						ENST00000325418.4																			0											c.(1471-1473)gGg>gCg		germ cell associated 2 (haspin)							58.0	56.0	57.0					17																	3628701		2203	4300	6503	SO:0001583	missense	83903				cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr17:3628701G>C	AB039834	CCDS11036.1	17p13	2005-01-19			ENSG00000177602	ENSG00000177602			19682	protein-coding gene	gene with protein product		609240					Standard	NM_031965		Approved	haspin	uc002fwp.3	Q8TF76	OTTHUMG00000090703	ENST00000325418.4:c.1472G>C	17.37:g.3628701G>C	ENSP00000325290:p.Gly491Ala		Somatic				ITGAE_ENST00000571185.1_Intron|ITGAE_ENST00000263087.4_Intron	p.G491A	NM_031965.2	NP_114171.2	WXS	Illumina GAIIx	Phase_I	Q8TF76	HASP_HUMAN			1	1491	+			491			Protein kinase.		Q5U5K3|Q96MN1|Q9BXS7	Missense_Mutation	SNP	ENST00000325418.4	37	c.1472G>C	CCDS11036.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.550657	0.65311	.	.	ENSG00000177602	ENST00000325418	D	0.82081	-1.57	4.87	4.87	0.63330	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.53938	D	0.000055	D	0.90741	0.7094	M	0.78801	2.425	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.91719	0.5387	10	0.87932	D	0	-25.2746	16.0321	0.80585	0.0:0.0:1.0:0.0	.	491	Q8TF76	HASP_HUMAN	A	491	ENSP00000325290:G491A	ENSP00000325290:G491A	G	+	2	0	GSG2	3575450	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.123000	0.77176	2.648000	0.89879	0.655000	0.94253	GGG		0.458	GSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207391.1	NM_031965		27	42	0	0	0	1	0	27	42				
ADAMTS10	81794	broad.mit.edu	37	19	8656924	8656924	+	Missense_Mutation	SNP	C	C	A			TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr19:8656924C>A	ENST00000597188.1	-	14	1921	c.1651G>T	c.(1651-1653)Ggg>Tgg	p.G551W	ADAMTS10_ENST00000595838.1_Silent_p.G41G|ADAMTS10_ENST00000270328.4_Missense_Mutation_p.G551W	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	551	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GTCCACGGCCCCCAGGCTCCG	0.687																																						ENST00000270328.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						c.(1651-1653)Ggg>Tgg		ADAM metallopeptidase with thrombospondin type 1 motif, 10							23.0	26.0	25.0					19																	8656924		2203	4297	6500	SO:0001583	missense	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8656924C>A	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.1651G>T	19.37:g.8656924C>A	ENSP00000471851:p.Gly551Trp		Somatic				ADAMTS10_ENST00000597188.1_Missense_Mutation_p.G551W|ADAMTS10_ENST00000595838.1_Silent_p.G41G	p.G551W			WXS	Illumina GAIIx	Phase_I	Q9H324	ATS10_HUMAN			13	1917	-			551			TSP type-1 1.		M0QZE4	Missense_Mutation	SNP	ENST00000597188.1	37	c.1651G>T	CCDS12206.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.772685	0.69992	.	.	ENSG00000142303	ENST00000270328;ENST00000393912	T	0.55760	0.5	4.63	4.63	0.57726	.	0.222827	0.38217	N	0.001773	D	0.82291	0.5005	H	0.97491	4.015	0.80722	D	1	P;D	0.71674	0.956;0.998	P;D	0.87578	0.754;0.998	D	0.89347	0.3658	10	0.87932	D	0	.	16.4707	0.84111	0.0:1.0:0.0:0.0	.	305;551	Q59FE5;Q9H324	.;ATS10_HUMAN	W	551;305	ENSP00000270328:G551W	ENSP00000270328:G551W	G	-	1	0	ADAMTS10	8562924	1.000000	0.71417	1.000000	0.80357	0.485000	0.33311	5.461000	0.66699	2.122000	0.65172	0.467000	0.42956	GGG		0.687	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957		5	33	1	0	0.0293803	1	0.0307794	5	33				
DNAJC1	64215	broad.mit.edu	37	10	22055195	22055195	+	Missense_Mutation	SNP	G	G	C			TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr10:22055195G>C	ENST00000376980.3	-	10	1432	c.1142C>G	c.(1141-1143)tCc>tGc	p.S381C	DNAJC1_ENST00000483085.1_5'UTR	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	381					negative regulation of proteolysis (GO:0045861)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)|regulation of protein secretion (GO:0050708)|regulation of translation (GO:0006417)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				CTCACCTGGGGAGCAGGTCAC	0.353																																						ENST00000376980.3																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21						c.(1141-1143)tCc>tGc		DnaJ (Hsp40) homolog, subfamily C, member 1							144.0	150.0	148.0					10																	22055195		2203	4300	6503	SO:0001583	missense	64215				negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding	g.chr10:22055195G>C	AK026062	CCDS7136.1	10p11.23	2011-09-02			ENSG00000136770	ENSG00000136770		"""Heat shock proteins / DNAJ (HSP40)"""	20090	protein-coding gene	gene with protein product		611207					Standard	NM_022365		Approved	DNAJL1, ERdj1, MTJ1	uc001irc.3	Q96KC8	OTTHUMG00000017800	ENST00000376980.3:c.1142C>G	10.37:g.22055195G>C	ENSP00000366179:p.Ser381Cys		Somatic				DNAJC1_ENST00000483085.1_5'UTR	p.S381C	NM_022365.3	NP_071760.2	WXS	Illumina GAIIx	Phase_I	Q96KC8	DNJC1_HUMAN			10	1432	-		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)	381					B0YIZ8|Q5VX89|Q9H6B8	Missense_Mutation	SNP	ENST00000376980.3	37	c.1142C>G	CCDS7136.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.154020	0.78114	.	.	ENSG00000136770	ENST00000376980	T	0.29655	1.56	5.24	5.24	0.73138	Homeodomain-like (1);	0.229461	0.43747	D	0.000523	T	0.45994	0.1370	L	0.50333	1.59	0.80722	D	1	D;D	0.76494	0.999;0.993	P;P	0.55667	0.781;0.628	T	0.45498	-0.9257	10	0.87932	D	0	-0.2663	18.8415	0.92186	0.0:0.0:1.0:0.0	.	102;381	Q96NY3;Q96KC8	.;DNJC1_HUMAN	C	381	ENSP00000366179:S381C	ENSP00000366179:S381C	S	-	2	0	DNAJC1	22095201	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	4.055000	0.57441	2.447000	0.82792	0.591000	0.81541	TCC		0.353	DNAJC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047149.1	NM_022365		56	56	0	0	0	1	0	56	56				
ANKRD36C	400986	broad.mit.edu	37	2	96521777	96521777	+	Missense_Mutation	SNP	T	T	C	rs77768218		TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr2:96521777T>C	ENST00000456556.1	-	63	4316	c.4232A>G	c.(4231-4233)cAt>cGt	p.H1411R	ANKRD36C_ENST00000419039.2_Missense_Mutation_p.H438R|ANKRD36C_ENST00000420871.2_Missense_Mutation_p.H662R			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	1411							ion channel inhibitor activity (GO:0008200)	p.H662R(6)|p.H1411R(3)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						AAGGTCTTCATGCTTTCTTTT	0.383																																						ENST00000456556.1																			9	Substitution - Missense(9)	p.H662R(6)|p.H1411R(3)	kidney(6)|lung(3)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(4231-4233)cAt>cGt		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96521777T>C	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.4232A>G	2.37:g.96521777T>C	ENSP00000403302:p.His1411Arg		Somatic				ANKRD36C_ENST00000419039.2_Missense_Mutation_p.H438R|ANKRD36C_ENST00000420871.2_Missense_Mutation_p.H662R	p.H1411R			WXS	Illumina GAIIx	Phase_I					63	4316	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.4232A>G		.	.	.	.	.	.	.	.	.	.	t	1.211	-0.629664	0.03610	.	.	ENSG00000174501	ENST00000420871;ENST00000456556;ENST00000419039	T;T;T	0.13196	2.61;2.61;2.61	1.87	0.665	0.17896	.	.	.	.	.	T	0.05731	0.0150	N	0.14661	0.345	0.09310	N	1	B	0.21071	0.051	B	0.15870	0.014	T	0.42666	-0.9438	9	0.15952	T	0.53	.	1.8453	0.03158	0.2739:0.1735:0.0:0.5526	.	1411	Q5JPF3	AN36C_HUMAN	R	662;1411;438	ENSP00000415231:H662R;ENSP00000403302:H1411R;ENSP00000407838:H438R	ENSP00000407838:H438R	H	-	2	0	AC073995.2	95885504	1.000000	0.71417	0.011000	0.14972	0.003000	0.03518	1.050000	0.30404	0.187000	0.20147	-0.818000	0.03119	CAT		0.383	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		3	23	0	0	0	1	0	3	23				
ZNF439	90594	broad.mit.edu	37	19	11978607	11978607	+	Silent	SNP	G	G	A	rs370512382		TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr19:11978607G>A	ENST00000304030.2	+	3	923	c.723G>A	c.(721-723)ccG>ccA	p.P241P	ZNF439_ENST00000455282.1_Silent_p.P105P|ZNF439_ENST00000592534.1_Intron	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	241					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P241P(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						GAGAGAAACCGTATGAATGTA	0.363																																						ENST00000304030.2																			1	Substitution - coding silent(1)	p.P241P(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						c.(721-723)ccG>ccA		zinc finger protein 439		G		0,4406		0,0,2203	83.0	83.0	83.0		723	-1.1	0.0	19		83	1,8599		0,1,4299	no	coding-synonymous	ZNF439	NM_152262.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		241/500	11978607	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	90594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11978607G>A	AL833935	CCDS12268.1	19p13.13	2013-01-08			ENSG00000171291	ENSG00000171291		"""Zinc fingers, C2H2-type"", ""-"""	20873	protein-coding gene	gene with protein product							Standard	NM_152262		Approved	DKFZp571K0837	uc002mss.3	Q8NDP4	OTTHUMG00000156527	ENST00000304030.2:c.723G>A	19.37:g.11978607G>A			Somatic				ZNF439_ENST00000455282.1_Silent_p.P105P|ZNF439_ENST00000592534.1_Intron	p.P241P	NM_152262.2	NP_689475.1	WXS	Illumina GAIIx	Phase_I	Q8NDP4	ZN439_HUMAN			3	923	+			241					Q8IYZ7|Q96SU1	Silent	SNP	ENST00000304030.2	37	c.723G>A	CCDS12268.1																																																																																				0.363	ZNF439-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344513.1			4	92	0	0	0	1	0	4	92				
CACNA1E	777	broad.mit.edu	37	1	181680102	181680103	+	Frame_Shift_Del	DEL	AG	AG	-	rs147596634		TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr1:181680102_181680103delAG	ENST00000367573.2	+	8	1068_1069	c.1068_1069delAG	c.(1066-1071)aaagagfs	p.E357fs	CACNA1E_ENST00000367570.1_Frame_Shift_Del_p.E357fs|CACNA1E_ENST00000360108.3_Frame_Shift_Del_p.E357fs|CACNA1E_ENST00000358338.5_Frame_Shift_Del_p.E308fs|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000357570.5_Frame_Shift_Del_p.E308fs|CACNA1E_ENST00000526775.1_Frame_Shift_Del_p.E357fs	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	357					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AATTTGCCAAAGAGAGAGAGAG	0.51																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(1066-1071)aaagagfs		calcium channel, voltage-dependent, R type, alpha 1E subunit			,,	161,3503		41,79,1712					,,	5.3	1.0		dbSNP_134	61	297,7585		52,193,3696	yes	frameshift,frameshift,frameshift	CACNA1E	NM_001205294.1,NM_001205293.1,NM_000721.3	,,	93,272,5408	A1A1,A1R,RR		3.7681,4.3941,3.9667	,,	,,		458,11088				SO:0001589	frameshift_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181680102_181680103delAG	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.1068_1069delAG	1.37:g.181680112_181680113delAG	ENSP00000356545:p.Glu357fs		Somatic				CACNA1E_ENST00000367573.2_Frame_Shift_Del_p.E357fs|CACNA1E_ENST00000367570.1_Frame_Shift_Del_p.E357fs|CACNA1E_ENST00000357570.5_Frame_Shift_Del_p.E308fs|CACNA1E_ENST00000358338.5_Frame_Shift_Del_p.E308fs|CACNA1E_ENST00000360108.3_Frame_Shift_Del_p.E357fs|CACNA1E_ENST00000367567.4_5'UTR	p.E357fs	NM_001205294.1	NP_001192223.1	WXS	Illumina GAIIx	Phase_I	Q15878	CAC1E_HUMAN			8	1233_1234	+			357					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Frame_Shift_Del	DEL	ENST00000367573.2	37	c.1068_1069delAG	CCDS55664.1																																																																																				0.510	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		7	61						7	61	---	---	---	---
TECPR1	25851	broad.mit.edu	37	7	97858474	97858474	+	Frame_Shift_Del	DEL	A	A	-			TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr7:97858474delA	ENST00000447648.2	-	16	2586	c.2287delT	c.(2287-2289)tggfs	p.W763fs	TECPR1_ENST00000542604.1_Frame_Shift_Del_p.W693fs|TECPR1_ENST00000379795.3_Frame_Shift_Del_p.W764fs|TECPR1_ENST00000479975.1_5'Flank			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	763					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ATCTGCCGCCAAAACCTGGAA	0.642																																						ENST00000447648.2																			0				central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2287-2289)tggfs		tectonin beta-propeller repeat containing 1							18.0	23.0	21.0					7																	97858474		1922	4094	6016	SO:0001589	frameshift_variant	25851					integral to membrane	protein binding	g.chr7:97858474delA		CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.2287delT	7.37:g.97858474delA	ENSP00000404923:p.Trp763fs		Somatic				TECPR1_ENST00000379795.3_Frame_Shift_Del_p.W764fs|TECPR1_ENST00000542604.1_Frame_Shift_Del_p.W693fs	p.W763fs			WXS	Illumina GAIIx	Phase_I	Q7Z6L1	TCPR1_HUMAN			16	2586	-			763					A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Frame_Shift_Del	DEL	ENST00000447648.2	37	c.2287delT	CCDS47648.1																																																																																				0.642	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1	NM_015395		2	4						2	4	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49427665	49427667	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr12:49427665_49427667delTGC	ENST00000301067.7	-	39	10820_10822	c.10821_10823delGCA	c.(10819-10824)cagcaa>caa	p.3607_3608QQ>Q	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3607	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q3337Q(1)|p.Q3607Q(1)									ttgctgttgttgctgctgctgct	0.586																																						ENST00000301067.7																			2	Substitution - coding silent(2)	p.Q3337Q(1)|p.Q3607Q(1)	large_intestine(2)								c.(10819-10824)cagcaa>caa		lysine (K)-specific methyltransferase 2D																																				SO:0001651	inframe_deletion	8085							g.chr12:49427665_49427667delTGC	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.10821_10823delGCA	12.37:g.49427674_49427676delTGC	ENSP00000301067:p.Gln3612del		Somatic					p.3607_3608QQ>Q	NM_003482.3	NP_003473.3	WXS	Illumina GAIIx	Phase_I					39	10820_10822	-								O14687	In_Frame_Del	DEL	ENST00000301067.7	37	c.10821_10823delGCA	CCDS44873.1																																																																																				0.586	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			2	4						2	4	---	---	---	---
OVCA2	124641	broad.mit.edu	37	17	1945490	1945491	+	Frame_Shift_Ins	INS	-	-	C	rs199650013|rs201458913		TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr17:1945490_1945491insC	ENST00000572195.1	+	1	164_165	c.149_150insC	c.(148-153)gaccccfs	p.DP50fs	RP11-667K14.3_ENST00000572790.1_lincRNA|RP11-667K14.4_ENST00000572404.1_RNA|DPH1_ENST00000570477.1_Intron|DPH1_ENST00000263083.6_Intron	NM_080822.2	NP_543012.1	Q8WZ82	OVCA2_HUMAN	ovarian tumor suppressor candidate 2	50					metabolic process (GO:0008152)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)										CCGGTCCCCGACCCCCCGGGCC	0.703											OREG0024078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000572195.1																			0											c.(148-153)gaccccfs		ovarian tumor suppressor candidate 2																																				SO:0001589	frameshift_variant	124641				response to retinoic acid	cytoplasm	hydrolase activity	g.chr17:1945490_1945491insC	AF321875	CCDS11015.1	17p13.3	2012-10-08			ENSG00000262664	ENSG00000262664			24203	protein-coding gene	gene with protein product	"""candidate tumor suppressor in ovarian cancer 2"""	607896				11979432, 8616839, 16368187	Standard	NM_080822		Approved		uc002ftx.3	Q8WZ82	OTTHUMG00000132471	ENST00000572195.1:c.155dupC	17.37:g.1945496_1945496dupC	ENSP00000461388:p.Asp50fs		Somatic	OREG0024078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	599	DPH1_ENST00000570477.1_Intron|DPH1_ENST00000263083.6_Intron	p.DP50fs	NM_080822.2	NP_543012.1	WXS	Illumina GAIIx	Phase_I	Q8WZ82	OVCA2_HUMAN			1	164_165	+			50					Q86XN3|Q8IW87|Q9UCX9	Frame_Shift_Ins	INS	ENST00000572195.1	37	c.149_150insC	CCDS11015.1																																																																																				0.703	OVCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255636.5	NM_080822		2	4						2	4	---	---	---	---
C20orf96	140680	broad.mit.edu	37	20	258020	258021	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr20:258020_258021delAA	ENST00000360321.2	-	7	707_708	c.569_570delTT	c.(568-570)cttfs	p.L190fs	C20orf96_ENST00000400269.3_Frame_Shift_Del_p.L132fs|C20orf96_ENST00000382369.5_Frame_Shift_Del_p.L155fs	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	190										endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CCTGCTGCTCAAGATCTGGGGA	0.574																																						ENST00000360321.2																			0				endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(568-570)cttfs		chromosome 20 open reading frame 96																																				SO:0001589	frameshift_variant	140680							g.chr20:258020_258021delAA	AL034548	CCDS12994.1, CCDS74685.1	20p13	2012-10-30			ENSG00000196476	ENSG00000196476			16227	protein-coding gene	gene with protein product							Standard	NM_153269		Approved	dJ1103G7.2	uc002wde.2	Q9NUD7	OTTHUMG00000031626	ENST00000360321.2:c.569_570delTT	20.37:g.258020_258021delAA	ENSP00000353470:p.Leu190fs		Somatic				C20orf96_ENST00000382369.5_Frame_Shift_Del_p.L155fs|C20orf96_ENST00000400269.3_Frame_Shift_Del_p.L132fs	p.L190fs	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	WXS	Illumina GAIIx	Phase_I	Q9NUD7	CT096_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.149)		7	707_708	-		all_cancers(10;0.00959)|Lung NSC(37;0.227)	190					A3KPE0|B2RPH9|Q8N840|Q8NAX5	Frame_Shift_Del	DEL	ENST00000360321.2	37	c.569_570delTT	CCDS12994.1																																																																																				0.574	C20orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077439.2	NM_153269		91	115						91	115	---	---	---	---
