#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
LRRC49	54839	broad.mit.edu	37	15	71193327	71193327	+	Missense_Mutation	SNP	A	A	C			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr15:71193327A>C	ENST00000260382.5	+	4	520	c.260A>C	c.(259-261)gAg>gCg	p.E87A	LRRC49_ENST00000544974.2_Missense_Mutation_p.E77A|LRRC49_ENST00000560691.1_5'UTR|LRRC49_ENST00000443425.2_Missense_Mutation_p.E43A|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560369.1_Missense_Mutation_p.E92A	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	87						cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						TCTTCTGAAGAGAAAATTCTT	0.313																																						ENST00000260382.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						c.(259-261)gAg>gCg		leucine rich repeat containing 49							80.0	83.0	82.0					15																	71193327		2199	4295	6494	SO:0001583	missense	54839					cytoplasm|microtubule		g.chr15:71193327A>C		CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09				ENSG00000137821			25965	protein-coding gene	gene with protein product						12477932	Standard	NM_001199017		Approved	FLJ20156	uc010ukf.2	Q8IUZ0		ENST00000260382.5:c.260A>C	15.37:g.71193327A>C	ENSP00000260382:p.Glu87Ala		Somatic				LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000544974.2_Missense_Mutation_p.E77A|LRRC49_ENST00000560691.1_5'UTR|LRRC49_ENST00000560369.1_Missense_Mutation_p.E92A|LRRC49_ENST00000443425.2_Missense_Mutation_p.E43A	p.E87A	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	WXS	Illumina GAIIx	Phase_I	Q8IUZ0	LRC49_HUMAN			4	520	+			87					B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Missense_Mutation	SNP	ENST00000260382.5	37	c.260A>C	CCDS32282.1	.	.	.	.	.	.	.	.	.	.	A	17.43	3.388005	0.61956	.	.	ENSG00000137821	ENST00000544974;ENST00000260382;ENST00000443425;ENST00000436542	T;T;T	0.37752	1.18;1.9;1.9	5.86	5.86	0.93980	.	0.198988	0.35870	N	0.002921	T	0.31420	0.0796	L	0.32530	0.975	0.39912	D	0.974043	P;P;P;P;P	0.44478	0.836;0.831;0.492;0.741;0.814	B;B;B;B;B	0.42882	0.238;0.401;0.276;0.143;0.287	T	0.09574	-1.0668	10	0.39692	T	0.17	-24.9529	12.9413	0.58345	1.0:0.0:0.0:0.0	.	92;59;43;87;77	B7Z366;G5E9Q1;G5E9T5;Q8IUZ0;F5H1J4	.;.;.;LRC49_HUMAN;.	A	77;87;43;59	ENSP00000439600:E77A;ENSP00000260382:E87A;ENSP00000414065:E43A	ENSP00000260382:E87A	E	+	2	0	LRRC49	68980381	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.952000	0.70282	2.367000	0.80283	0.528000	0.53228	GAG		0.313	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417209.3	NM_017691		15	19	0	0	0	1	0	15	19				
KRTAP4-4	84616	broad.mit.edu	37	17	39316785	39316785	+	Silent	SNP	G	G	A			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr17:39316785G>A	ENST00000390661.3	-	1	198	c.159C>T	c.(157-159)acC>acT	p.T53T		NM_032524.1	NP_115913.1	Q9BYR3	KRA44_HUMAN	keratin associated protein 4-4	53	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].		Missing (in allele KAP4.13). {ECO:0000269|PubMed:11279113}.|Missing (in allele KAP4.4-v1).			keratin filament (GO:0045095)				kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			TGCAGCAGGTGGTCTGGCAGC	0.672																																						ENST00000390661.3																			0				kidney(1)|large_intestine(1)|lung(5)	7						c.(157-159)acC>acT		keratin associated protein 4-4							46.0	54.0	51.0					17																	39316785		2201	4298	6499	SO:0001819	synonymous_variant	84616					keratin filament		g.chr17:39316785G>A	AJ406936	CCDS11383.1	17q21.2	2013-06-25			ENSG00000171396	ENSG00000171396		"""Keratin associated proteins"""	16928	protein-coding gene	gene with protein product			"""keratin associated protein 4-13"""	KRTAP4-13		11279113	Standard	NM_032524		Approved	KAP4.4, KAP4.13	uc002hwc.3	Q9BYR3	OTTHUMG00000133428	ENST00000390661.3:c.159C>T	17.37:g.39316785G>A			Somatic					p.T53T	NM_032524.1	NP_115913.1	WXS	Illumina GAIIx	Phase_I	Q9BYR3	KRA44_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		1	198	-		Breast(137;0.000496)	53		Missing (in allele KAP4.13).|Missing (in allele KAP4.4-v1).	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].		Q9BYU7	Silent	SNP	ENST00000390661.3	37	c.159C>T	CCDS11383.1																																																																																				0.672	KRTAP4-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257291.1			12	18	0	0	0	1	0	12	18				
SETX	23064	broad.mit.edu	37	9	135205194	135205194	+	Missense_Mutation	SNP	G	G	C			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr9:135205194G>C	ENST00000224140.5	-	10	1973	c.1791C>G	c.(1789-1791)ttC>ttG	p.F597L	SETX_ENST00000393220.1_Missense_Mutation_p.F597L|SETX_ENST00000372169.2_Missense_Mutation_p.F597L	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	597					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GAGGTGCTTTGAATTTTATGT	0.358																																						ENST00000372169.2																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(1789-1791)ttC>ttG		senataxin							56.0	52.0	54.0					9																	135205194		2203	4299	6502	SO:0001583	missense	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135205194G>C	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.1791C>G	9.37:g.135205194G>C	ENSP00000224140:p.Phe597Leu		Somatic				SETX_ENST00000224140.5_Missense_Mutation_p.F597L|SETX_ENST00000393220.1_Missense_Mutation_p.F597L	p.F597L			WXS	Illumina GAIIx	Phase_I	Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	10	1973	-		Myeloproliferative disorder(178;0.204)	597					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.1791C>G	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	G	3.984	-0.005752	0.07773	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	D;D;D	0.81499	-1.5;-1.5;-1.5	5.92	-0.453	0.12201	.	2.275650	0.01566	N	0.020363	T	0.63070	0.2480	N	0.19112	0.55	0.20764	N	0.99986	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.47420	-0.9119	10	0.09590	T	0.72	.	2.0329	0.03533	0.1925:0.1097:0.4507:0.2471	.	597;597;597	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	L	597	ENSP00000224140:F597L;ENSP00000361242:F597L;ENSP00000376913:F597L	ENSP00000224140:F597L	F	-	3	2	SETX	134195015	0.101000	0.21875	0.033000	0.17914	0.701000	0.40568	0.215000	0.17562	-0.127000	0.11661	-1.301000	0.01330	TTC		0.358	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		7	18	0	0	0	1	0	7	18				
EIF1AX	1964	broad.mit.edu	37	X	20156731	20156731	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chrX:20156731C>T	ENST00000379607.5	-	2	229	c.26G>A	c.(25-27)gGt>gAt	p.G9D	snoU2_19_ENST00000364722.1_RNA|snoU2-30_ENST00000365012.1_RNA|EIF1AX_ENST00000379593.1_Intron|EIF1AX-AS1_ENST00000424026.1_RNA	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	9					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						TCTGTTTTTACCTCCTTTACC	0.313																																						ENST00000379607.5																			0				endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						c.(25-27)gGt>gAt		eukaryotic translation initiation factor 1A, X-linked							143.0	133.0	136.0					X																	20156731		2203	4300	6503	SO:0001583	missense	1964					cytosol	translation initiation factor activity	g.chrX:20156731C>T	L18960	CCDS14196.1	Xp22.13	2014-02-19	2002-11-28	2004-05-26	ENSG00000173674	ENSG00000173674			3250	protein-coding gene	gene with protein product		300186	"""eukaryotic translation initiation factor 1A, X chromosome"""	EIF4C, EIF1A		8106356, 9381176	Standard	NM_001412		Approved	eIF-1A, eIF-4C	uc004czt.3	P47813	OTTHUMG00000022704	ENST00000379607.5:c.26G>A	X.37:g.20156731C>T	ENSP00000368927:p.Gly9Asp		Somatic				EIF1AX_ENST00000379593.1_Intron	p.G9D	NM_001412.3	NP_001403.1	WXS	Illumina GAIIx	Phase_I	P47813	IF1AX_HUMAN			2	229	-			9					B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6	Missense_Mutation	SNP	ENST00000379607.5	37	c.26G>A	CCDS14196.1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.618536	0.66787	.	.	ENSG00000173674	ENST00000379607	T	0.48201	0.82	4.94	4.94	0.65067	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.79021	0.4376	H	0.96301	3.8	0.80722	D	1	D	0.62365	0.991	D	0.74023	0.982	D	0.86715	0.1938	9	0.87932	D	0	-11.9247	17.661	0.88193	0.0:1.0:0.0:0.0	.	9	P47813	IF1AX_HUMAN	D	9	ENSP00000368927:G9D	ENSP00000368927:G9D	G	-	2	0	EIF1AX	20066652	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	7.237000	0.78164	2.187000	0.69744	0.600000	0.82982	GGT		0.313	EIF1AX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058913.1			24	21	0	0	0	1	0	24	21				
TNFRSF8	943	broad.mit.edu	37	1	12164444	12164444	+	Missense_Mutation	SNP	G	G	A	rs141205943		TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr1:12164444G>A	ENST00000263932.2	+	4	499	c.277G>A	c.(277-279)Gtg>Atg	p.V93M	TNFRSF8_ENST00000417814.2_5'UTR	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	93					cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)	p.V93M(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Brentuximab vedotin(DB08870)	AGACGACCTCGTGGAGAAGAC	0.592																																						ENST00000263932.2																			1	Substitution - Missense(1)	p.V93M(1)	pancreas(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27						c.(277-279)Gtg>Atg		tumor necrosis factor receptor superfamily, member 8		G	MET/VAL	1,4405		0,1,2202	124.0	100.0	108.0		277	4.9	1.0	1	dbSNP_134	108	0,8600		0,0,4300	no	missense	TNFRSF8	NM_001243.3	21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	93/596	12164444	1,13005	2203	4300	6503	SO:0001583	missense	0				cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane		g.chr1:12164444G>A	M83554	CCDS144.1, CCDS59989.1	1p36	2008-02-05			ENSG00000120949	ENSG00000120949		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11923	protein-coding gene	gene with protein product		153243		CD30, D1S166E		1330892, 1310894	Standard	XM_006711049		Approved	KI-1	uc001atq.3	P28908	OTTHUMG00000001827	ENST00000263932.2:c.277G>A	1.37:g.12164444G>A	ENSP00000263932:p.Val93Met		Somatic				TNFRSF8_ENST00000417814.2_5'UTR	p.V93M	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	WXS	Illumina GAIIx	Phase_I	P28908	TNR8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	4	499	+	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	93					B1AN79|B9EGD9|D3YTD8|Q6P4D9	Missense_Mutation	SNP	ENST00000263932.2	37	c.277G>A	CCDS144.1	.	.	.	.	.	.	.	.	.	.	.	16.19	3.053279	0.55218	2.27E-4	0.0	ENSG00000120949	ENST00000263932	D	0.92149	-2.98	4.92	4.92	0.64577	TNFR/CD27/30/40/95 cysteine-rich region (4);	0.121291	0.36303	N	0.002670	D	0.95427	0.8515	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95108	0.8236	10	0.54805	T	0.06	-36.1039	14.3555	0.66735	0.0:0.0:1.0:0.0	.	93	P28908	TNR8_HUMAN	M	93	ENSP00000263932:V93M	ENSP00000263932:V93M	V	+	1	0	TNFRSF8	12087031	1.000000	0.71417	0.977000	0.42913	0.304000	0.27724	4.870000	0.63035	2.665000	0.90641	0.650000	0.86243	GTG		0.592	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005130.1			17	19	0	0	0	1	0	17	19				
FANCL	55120	broad.mit.edu	37	2	58388662	58388662	+	Missense_Mutation	SNP	A	A	G			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr2:58388662A>G	ENST00000233741.4	-	12	1051	c.1015T>C	c.(1015-1017)Tat>Cat	p.Y339H	FANCL_ENST00000403676.1_Missense_Mutation_p.Y222H|FANCL_ENST00000403295.3_Missense_Mutation_p.Y311H|FANCL_ENST00000402135.3_Missense_Mutation_p.Y344H	NM_018062.3	NP_060532.2	Q9NW38	FANCL_HUMAN	Fanconi anemia, complementation group L	339					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|gamete generation (GO:0007276)|protein monoubiquitination (GO:0006513)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)	8						TTTACCTCATATAAGCATATT	0.338								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000402135.3																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(2)	8						c.(1030-1032)Tat>Cat	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group L							75.0	81.0	79.0					2																	58388662		2201	4297	6498	SO:0001583	missense	55120	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	cytoplasm|nucleoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:58388662A>G	AK001197	CCDS1860.1, CCDS46294.1	2p16.1	2014-09-17	2003-10-14	2003-10-15	ENSG00000115392	ENSG00000115392		"""Zinc fingers, PHD-type"", ""Fanconi anemia, complementation groups"""	20748	protein-coding gene	gene with protein product		608111	"""PHD finger protein 9"""	PHF9			Standard	NM_018062		Approved	FLJ10335, FAAP43, Pog	uc002rzx.4	Q9NW38	OTTHUMG00000129349	ENST00000233741.4:c.1015T>C	2.37:g.58388662A>G	ENSP00000233741:p.Tyr339His		Somatic				FANCL_ENST00000233741.4_Missense_Mutation_p.Y339H|FANCL_ENST00000403676.1_Missense_Mutation_p.Y222H|FANCL_ENST00000403295.3_Missense_Mutation_p.Y311H	p.Y344H	NM_001114636.1	NP_001108108.1	WXS	Illumina GAIIx	Phase_I	Q9NW38	FANCL_HUMAN			12	1066	-			339					Q6GU60	Missense_Mutation	SNP	ENST00000233741.4	37	c.1030T>C	CCDS1860.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.733916	0.89482	.	.	ENSG00000115392	ENST00000403295;ENST00000233741;ENST00000402135;ENST00000403676;ENST00000449070	T;T;T;T;T	0.67865	-0.24;-0.29;-0.29;-0.24;-0.24	5.91	5.91	0.95273	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);	0.053587	0.85682	D	0.000000	D	0.84238	0.5428	M	0.87097	2.86	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.986;0.99;0.999;1.0	D	0.86473	0.1786	10	0.59425	D	0.04	-17.6464	16.3469	0.83138	1.0:0.0:0.0:0.0	.	280;311;344;339	C9JZA9;B5MC31;Q9NW38-2;Q9NW38	.;.;.;FANCL_HUMAN	H	311;339;344;222;280	ENSP00000386097:Y311H;ENSP00000233741:Y339H;ENSP00000385021:Y344H;ENSP00000384046:Y222H;ENSP00000401280:Y280H	ENSP00000233741:Y339H	Y	-	1	0	FANCL	58242166	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.828000	0.92047	2.263000	0.75096	0.528000	0.53228	TAT		0.338	FANCL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251497.1	NM_018062		8	28	0	0	0	1	0	8	28				
CSNK1A1L	122011	broad.mit.edu	37	13	37679303	37679303	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr13:37679303C>T	ENST00000379800.3	-	1	500	c.91G>A	c.(91-93)Gtt>Att	p.V31I		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	31	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell morphogenesis (GO:0000902)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		CCCAGATAAACGTCTCCAAAG	0.537																																						ENST00000379800.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37						c.(91-93)Gtt>Att		casein kinase 1, alpha 1-like							139.0	127.0	131.0					13																	37679303		2203	4300	6503	SO:0001583	missense	122011				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr13:37679303C>T	BC028723	CCDS9363.1	13q13.2	2008-02-05			ENSG00000180138	ENSG00000180138			20289	protein-coding gene	gene with protein product							Standard	NM_145203		Approved	MGC33182	uc001uwm.1	Q8N752	OTTHUMG00000016748	ENST00000379800.3:c.91G>A	13.37:g.37679303C>T	ENSP00000369126:p.Val31Ile		Somatic					p.V31I	NM_145203.5	NP_660204.2	WXS	Illumina GAIIx	Phase_I	Q8N752	KC1AL_HUMAN		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)	1	500	-		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)	31			Protein kinase.		Q5T2N2	Missense_Mutation	SNP	ENST00000379800.3	37	c.91G>A	CCDS9363.1	.	.	.	.	.	.	.	.	.	.	C	0.110	-1.140119	0.01728	.	.	ENSG00000180138	ENST00000379800	T	0.80824	-1.42	0.778	0.778	0.18543	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.055899	0.64402	N	0.000002	T	0.43590	0.1254	N	0.01431	-0.87	0.29898	N	0.824643	B	0.09022	0.002	B	0.11329	0.006	T	0.46414	-0.9193	10	0.02654	T	1	.	3.0398	0.06134	0.0:0.6793:0.0:0.3206	.	31	Q8N752	KC1AL_HUMAN	I	31	ENSP00000369126:V31I	ENSP00000369126:V31I	V	-	1	0	CSNK1A1L	36577303	1.000000	0.71417	0.488000	0.27440	0.808000	0.45660	2.847000	0.48270	0.686000	0.31488	0.561000	0.74099	GTT		0.537	CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044563.1	NM_145203		3	75	0	0	0	1	0	3	75				
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1				archaelysin family metallopeptidase 2 pseudogene 1																		AAAATTCCACAAGTCTCTTGG	0.373																																						ENST00000430983.1																			0																																																			0							g.chr17:62968690A>G	AK056627		17q24.1	2012-10-16	2010-04-08		ENSG00000214174	ENSG00000214174			26491	pseudogene	pseudogene							Standard	NR_026903		Approved	FLJ32065	uc002jfb.3		OTTHUMG00000132075		17.37:g.62968690A>G			Somatic						NR_026903.1		WXS	Illumina GAIIx	Phase_I					0	1554	-									RNA	SNP	ENST00000430983.1	37																																																																																						0.373	AMZ2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000255102.1	NM_153032		4	76	0	0	0	1	0	4	76				
SACS	26278	broad.mit.edu	37	13	23913291	23913291	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr13:23913291C>T	ENST00000382292.3	-	9	4997	c.4724G>A	c.(4723-4725)cGg>cAg	p.R1575Q	SACS_ENST00000402364.1_Missense_Mutation_p.R825Q|SACS_ENST00000382298.3_Missense_Mutation_p.R1575Q			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1575			R -> P (in SACS). {ECO:0000269|PubMed:20876471}.		cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CATGAATTCCCGACTCATAAT	0.338																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(4723-4725)cGg>cAg		spastic ataxia of Charlevoix-Saguenay (sacsin)							88.0	86.0	87.0					13																	23913291		2203	4298	6501	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23913291C>T	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.4724G>A	13.37:g.23913291C>T	ENSP00000371729:p.Arg1575Gln		Somatic				SACS_ENST00000402364.1_Missense_Mutation_p.R825Q|SACS_ENST00000382292.3_Missense_Mutation_p.R1575Q	p.R1575Q	NM_014363.4	NP_055178.3	WXS	Illumina GAIIx	Phase_I	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	5312	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	1575		R -> P (in SACS).			O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.4724G>A	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	20.8	4.045175	0.75846	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.87809	-2.3;-2.3;-2.3	6.16	6.16	0.99307	ATPase-like, ATP-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.91233	0.7237	L	0.53249	1.67	0.50467	D	0.999873	D	0.65815	0.995	P	0.58520	0.84	D	0.89566	0.3810	10	0.45353	T	0.12	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	1575	Q9NZJ4	SACS_HUMAN	Q	1575;825;1575	ENSP00000371729:R1575Q;ENSP00000385844:R825Q;ENSP00000371735:R1575Q	ENSP00000371729:R1575Q	R	-	2	0	SACS	22811291	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.487000	0.81328	2.937000	0.99478	0.650000	0.86243	CGG		0.338	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		3	47	0	0	0	1	0	3	47				
DSG1	1828	broad.mit.edu	37	18	28913603	28913603	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr18:28913603G>A	ENST00000257192.4	+	7	948	c.736G>A	c.(736-738)Gca>Aca	p.A246T		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	246	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AGATGGCGGGGCAGATGGCAT	0.428																																						ENST00000257192.4																			0				NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(736-738)Gca>Aca		desmoglein 1							144.0	130.0	135.0					18																	28913603		2203	4300	6503	SO:0001583	missense	1828				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	g.chr18:28913603G>A	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.736G>A	18.37:g.28913603G>A	ENSP00000257192:p.Ala246Thr		Somatic					p.A246T	NM_001942.2	NP_001933.2	WXS	Illumina GAIIx	Phase_I	Q02413	DSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		7	948	+			246			Cadherin 2.		B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	c.736G>A	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	G	9.571	1.121016	0.20877	.	.	ENSG00000134760	ENST00000257192	T	0.50813	0.73	5.82	0.68	0.17980	Cadherin (4);Cadherin-like (1);	0.538614	0.17967	N	0.155976	T	0.30479	0.0766	L	0.35723	1.085	0.44302	D	0.997175	B	0.21520	0.057	B	0.29267	0.1	T	0.05533	-1.0879	10	0.17369	T	0.5	.	2.7782	0.05353	0.165:0.1091:0.5023:0.2237	.	246	Q02413	DSG1_HUMAN	T	246	ENSP00000257192:A246T	ENSP00000257192:A246T	A	+	1	0	DSG1	27167601	0.075000	0.21258	0.338000	0.25549	0.637000	0.38172	0.670000	0.25157	0.083000	0.17047	0.655000	0.94253	GCA		0.428	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		26	26	0	0	0	1	0	26	26				
HK1	3098	broad.mit.edu	37	10	71144107	71144107	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr10:71144107C>T	ENST00000359426.6	+	11	1693	c.1589C>T	c.(1588-1590)gCc>gTc	p.A530V	HK1_ENST00000448642.2_Missense_Mutation_p.A565V|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000360289.2_Missense_Mutation_p.A518V|HK1_ENST00000298649.3_Missense_Mutation_p.A529V|HK1_ENST00000404387.2_Missense_Mutation_p.A534V	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1	530	Catalytic.|Hexokinase type-1 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cell death (GO:0008219)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						GACTTCTTGGCCCTGGATCTT	0.473																																						ENST00000448642.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						c.(1693-1695)gCc>gTc		hexokinase 1							180.0	175.0	177.0					10																	71144107		2203	4300	6503	SO:0001583	missense	3098				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity	g.chr10:71144107C>T	M75126	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	10q22	2014-09-17			ENSG00000156515	ENSG00000156515	2.7.1.1		4922	protein-coding gene	gene with protein product		142600					Standard	NM_033496		Approved		uc001jpi.4	P19367	OTTHUMG00000018380	ENST00000359426.6:c.1589C>T	10.37:g.71144107C>T	ENSP00000352398:p.Ala530Val		Somatic				HK1_ENST00000404387.2_Missense_Mutation_p.A534V|HK1_ENST00000360289.2_Missense_Mutation_p.A518V|HK1_ENST00000359426.6_Missense_Mutation_p.A530V|HK1_ENST00000298649.3_Missense_Mutation_p.A529V|HK1_ENST00000494253.1_3'UTR	p.A565V			WXS	Illumina GAIIx	Phase_I	P19367	HXK1_HUMAN			16	2083	+			530			Catalytic.		E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	Missense_Mutation	SNP	ENST00000359426.6	37	c.1694C>T	CCDS7292.1	.	.	.	.	.	.	.	.	.	.	C	36	5.666245	0.96745	.	.	ENSG00000156515	ENST00000360289;ENST00000448642;ENST00000404387;ENST00000298649;ENST00000359426;ENST00000405407	D;D;D;D;D	0.99494	-6.01;-6.01;-6.01;-6.01;-6.01	5.77	5.77	0.91146	Hexokinase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99554	0.9840	M	0.83953	2.67	0.80722	D	1	D;D;D;D;D;D	0.89917	0.973;0.995;0.988;1.0;1.0;1.0	P;P;P;D;D;D	0.97110	0.675;0.675;0.678;0.999;0.999;1.0	D	0.98662	1.0684	10	0.87932	D	0	-20.7112	19.5653	0.95390	0.0:1.0:0.0:0.0	.	530;530;529;565;534;518	A8K7J7;P19367;P19367-2;E7ENR4;P19367-3;P19367-4	.;HXK1_HUMAN;.;.;.;.	V	518;565;534;529;530;530	ENSP00000353433:A518V;ENSP00000402103:A565V;ENSP00000384774:A534V;ENSP00000298649:A529V;ENSP00000352398:A530V	ENSP00000298649:A529V	A	+	2	0	HK1	70814113	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.729000	0.93468	0.650000	0.86243	GCC		0.473	HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048429.2	NM_000188		39	61	0	0	0	1	0	39	61				
SIM2	6493	broad.mit.edu	37	21	38115707	38115707	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr21:38115707C>T	ENST00000290399.6	+	9	1631	c.1018C>T	c.(1018-1020)Ctt>Ttt	p.L340F	SIM2_ENST00000430056.3_Missense_Mutation_p.L340F	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	340	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|embryonic pattern specification (GO:0009880)|lung development (GO:0030324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						ATACAAGGAACTTCAGCTGTC	0.587																																						ENST00000290399.6																			0				breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						c.(1018-1020)Ctt>Ttt		single-minded family bHLH transcription factor 2							92.0	96.0	95.0					21																	38115707		2203	4300	6503	SO:0001583	missense	6493				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr21:38115707C>T		CCDS13646.1	21q22.2	2013-10-17	2013-10-17		ENSG00000159263	ENSG00000159263		"""Basic helix-loop-helix proteins"""	10883	protein-coding gene	gene with protein product	"""transcription factor SIM2"""	600892	"""single-minded (Drosophila) homolog 2"", ""single-minded homolog 2 (Drosophila)"""	SIM		7485157	Standard	NM_009586		Approved	MGC119447, bHLHe15	uc002yvr.2	Q14190	OTTHUMG00000086637	ENST00000290399.6:c.1018C>T	21.37:g.38115707C>T	ENSP00000290399:p.Leu340Phe		Somatic				SIM2_ENST00000430056.3_Missense_Mutation_p.L340F	p.L340F	NM_005069.3	NP_005060.1	WXS	Illumina GAIIx	Phase_I	Q14190	SIM2_HUMAN			9	1631	+			340			Single-minded C-terminal.		O60766|Q15470|Q15471|Q15472|Q15473|Q16532|Q2TBD8	Missense_Mutation	SNP	ENST00000290399.6	37	c.1018C>T	CCDS13646.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.53|12.53	1.965967|1.965967	0.34659|0.34659	.|.	.|.	ENSG00000159263|ENSG00000159263	ENST00000290399;ENST00000430056|ENST00000431229	T;T|.	0.09817|.	2.97;2.94|.	4.49|4.49	1.43|1.43	0.22495|0.22495	Single-minded, C-terminal (1);|.	0.064020|.	0.64402|.	D|.	0.000005|.	T|T	0.45657|0.45657	0.1353|0.1353	M|M	0.66939|0.66939	2.045|2.045	0.23926|0.23926	N|N	0.996441|0.996441	D;P|.	0.56287|.	0.975;0.954|.	P;P|.	0.58210|.	0.835;0.826|.	T|T	0.34700|0.34700	-0.9818|-0.9818	10|5	0.87932|.	D|.	0|.	.|.	7.3607|7.3607	0.26745|0.26745	0.1349:0.7116:0.0:0.1536|0.1349:0.7116:0.0:0.1536	.|.	340;340|.	Q14190;Q14190-2|.	SIM2_HUMAN;.|.	F|I	340|277	ENSP00000290399:L340F;ENSP00000404176:L340F|.	ENSP00000290399:L340F|.	L|T	+|+	1|2	0|0	SIM2|SIM2	37037577|37037577	0.751000|0.751000	0.28327|0.28327	0.052000|0.052000	0.19188|0.19188	0.953000|0.953000	0.61014|0.61014	1.401000|1.401000	0.34589|0.34589	0.435000|0.435000	0.26365|0.26365	0.462000|0.462000	0.41574|0.41574	CTT|ACT		0.587	SIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194692.1	NM_009586		7	46	0	0	0	1	0	7	46				
RGL1	23179	broad.mit.edu	37	1	183885710	183885710	+	Missense_Mutation	SNP	T	T	C			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr1:183885710T>C	ENST00000360851.3	+	16	2057	c.1879T>C	c.(1879-1881)Tct>Cct	p.S627P	RGL1_ENST00000304685.4_Missense_Mutation_p.S662P|RGL1_ENST00000539189.1_Missense_Mutation_p.S598P|RGL1_ENST00000536277.1_Missense_Mutation_p.S625P			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	627					cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CCACAAGCGCTCTGTCTCGGT	0.493																																						ENST00000304685.4																			0				breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						c.(1984-1986)Tct>Cct		ral guanine nucleotide dissociation stimulator-like 1							203.0	187.0	193.0					1																	183885710		2203	4300	6503	SO:0001583	missense	23179				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	g.chr1:183885710T>C	AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.1879T>C	1.37:g.183885710T>C	ENSP00000354097:p.Ser627Pro		Somatic				RGL1_ENST00000360851.3_Missense_Mutation_p.S627P|RGL1_ENST00000539189.1_Missense_Mutation_p.S598P|RGL1_ENST00000536277.1_Missense_Mutation_p.S625P	p.S662P	NM_015149.3	NP_055964.3	WXS	Illumina GAIIx	Phase_I	Q9NZL6	RGL1_HUMAN			17	2433	+						Ras-associating.		Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Missense_Mutation	SNP	ENST00000360851.3	37	c.1984T>C		.	.	.	.	.	.	.	.	.	.	T	28.3	4.905457	0.92107	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000360851;ENST00000539189	T;T;T;T;T	0.54675	0.61;0.61;0.64;0.63;0.56	5.43	5.43	0.79202	.	0.210963	0.44902	D	0.000408	T	0.66509	0.2796	L	0.60455	1.87	0.58432	D	0.999999	D;D;D;D	0.69078	0.997;0.994;0.994;0.994	D;P;P;P	0.65010	0.931;0.855;0.855;0.855	T	0.65274	-0.6208	10	0.36615	T	0.2	.	15.1614	0.72788	0.0:0.0:0.0:1.0	.	598;625;627;662	F5H6U6;B7Z2W5;Q9NZL6;Q5SXQ6	.;.;RGL1_HUMAN;.	P	662;662;625;627;598	ENSP00000303192:S662P;ENSP00000356501:S662P;ENSP00000438662:S625P;ENSP00000354097:S627P;ENSP00000437355:S598P	ENSP00000303192:S662P	S	+	1	0	RGL1	182152333	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.837000	0.62796	2.066000	0.61787	0.528000	0.53228	TCT		0.493	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	NM_015149		3	59	0	0	0	1	0	3	59				
RYR2	6262	broad.mit.edu	37	1	237791261	237791261	+	Silent	SNP	G	G	T			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr1:237791261G>T	ENST00000366574.2	+	41	6638	c.6321G>T	c.(6319-6321)acG>acT	p.T2107T	RYR2_ENST00000360064.6_Silent_p.T2105T|RYR2_ENST00000542537.1_Silent_p.T2091T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2107	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGACCTACACGATAAATGGTG	0.547																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(6319-6321)acG>acT		ryanodine receptor 2 (cardiac)							92.0	93.0	93.0					1																	237791261		2002	4144	6146	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237791261G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6321G>T	1.37:g.237791261G>T			Somatic				RYR2_ENST00000542537.1_Silent_p.T2091T|RYR2_ENST00000360064.6_Silent_p.T2105T	p.T2107T	NM_001035.2	NP_001026.2	WXS	Illumina GAIIx	Phase_I	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		41	6638	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2107			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.6321G>T	CCDS55691.1																																																																																				0.547	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		13	17	1	0	7.03913e-09	1	7.45319e-09	13	17				
SLC27A6	28965	broad.mit.edu	37	5	128302199	128302199	+	Silent	SNP	C	C	T			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr5:128302199C>T	ENST00000262462.4	+	1	1379	c.369C>T	c.(367-369)ttC>ttT	p.F123F	SLC27A6_ENST00000395266.1_Silent_p.F123F|SLC27A6_ENST00000506176.1_Silent_p.F123F			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	123					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		ACGTGTGGTTCGGCCTCGCCA	0.592																																						ENST00000262462.4																			0				NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44						c.(367-369)ttC>ttT		solute carrier family 27 (fatty acid transporter), member 6							79.0	59.0	65.0					5																	128302199		2203	4300	6503	SO:0001819	synonymous_variant	28965				long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	g.chr5:128302199C>T	AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.369C>T	5.37:g.128302199C>T			Somatic				SLC27A6_ENST00000506176.1_Silent_p.F123F|SLC27A6_ENST00000395266.1_Silent_p.F123F	p.F123F			WXS	Illumina GAIIx	Phase_I	Q9Y2P4	S27A6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	1	1379	+		all_cancers(142;0.0483)|Prostate(80;0.055)	123					Q6IAM5|Q7Z6E6|Q86YF6	Silent	SNP	ENST00000262462.4	37	c.369C>T	CCDS4145.1																																																																																				0.592	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031		11	13	0	0	0	1	0	11	13				
GABRE	2564	broad.mit.edu	37	X	151131076	151131076	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chrX:151131076C>T	ENST00000370328.3	-	4	435	c.382G>A	c.(382-384)Gac>Aac	p.D128N	MIR452_ENST00000385020.1_RNA|GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370325.1_Missense_Mutation_p.D128N	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	128					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AGGCGTTCGTCGTACCAGGTC	0.463																																						ENST00000370325.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27						c.(382-384)Gac>Aac		gamma-aminobutyric acid (GABA) A receptor, epsilon							175.0	139.0	152.0					X																	151131076		2203	4300	6503	SO:0001583	missense	2564				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chrX:151131076C>T	Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4085	protein-coding gene	gene with protein product	"""GABA(A) receptor, epsilon"""	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.382G>A	X.37:g.151131076C>T	ENSP00000359353:p.Asp128Asn		Somatic				GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370328.3_Missense_Mutation_p.D128N	p.D128N			WXS	Illumina GAIIx	Phase_I	P78334	GBRE_HUMAN			4	435	-	Acute lymphoblastic leukemia(192;6.56e-05)		128					E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	ENST00000370328.3	37	c.382G>A	CCDS14703.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.350148	0.82132	.	.	ENSG00000102287	ENST00000370328;ENST00000370325	D;D	0.93547	-3.24;-3.24	5.6	5.6	0.85130	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.52532	D	0.000069	D	0.97548	0.9197	M	0.93150	3.385	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98567	1.0644	10	0.87932	D	0	.	15.8742	0.79148	0.0:1.0:0.0:0.0	.	128	P78334	GBRE_HUMAN	N	128	ENSP00000359353:D128N;ENSP00000359350:D128N	ENSP00000359350:D128N	D	-	1	0	GABRE	150881732	1.000000	0.71417	1.000000	0.80357	0.313000	0.28021	7.818000	0.86416	2.348000	0.79779	0.600000	0.82982	GAC		0.463	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984		36	35	0	0	0	1	0	36	35				
NDN	4692	broad.mit.edu	37	15	23932001	23932001	+	Missense_Mutation	SNP	G	G	T			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr15:23932001G>T	ENST00000331837.4	-	1	449	c.364C>A	c.(364-366)Cca>Aca	p.P122T		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	122	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		ACCATGTCTGGAAACCAGATG	0.622									Prader-Willi syndrome																													ENST00000331837.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39						c.(364-366)Cca>Aca		necdin, melanoma antigen (MAGE) family member							90.0	84.0	86.0					15																	23932001		2203	4300	6503	SO:0001583	missense	4692	Prader-Willi syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	g.chr15:23932001G>T	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"""Prader-Willi syndrome chromosome region"""	602117	"""necdin (mouse) homolog"", ""necdin homolog (mouse)"""			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.364C>A	15.37:g.23932001G>T	ENSP00000332643:p.Pro122Thr		Somatic					p.P122T	NM_002487.2	NP_002478.1	WXS	Illumina GAIIx	Phase_I	Q99608	NECD_HUMAN		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)	1	449	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)	122			MAGE.		B2R6Z5	Missense_Mutation	SNP	ENST00000331837.4	37	c.364C>A	CCDS10014.1	.	.	.	.	.	.	.	.	.	.	G	7.935	0.741565	0.15642	.	.	ENSG00000182636	ENST00000331837	T	0.03920	3.76	3.7	2.66	0.31614	.	0.061993	0.64402	D	0.000006	T	0.02455	0.0075	N	0.03154	-0.405	0.30090	N	0.808422	B	0.25904	0.137	B	0.31290	0.127	T	0.23154	-1.0196	10	0.45353	T	0.12	.	7.6073	0.28110	0.0:0.0:0.7466:0.2533	.	122	Q99608	NECD_HUMAN	T	122	ENSP00000332643:P122T	ENSP00000332643:P122T	P	-	1	0	NDN	21483094	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.825000	0.39081	1.999000	0.58509	0.655000	0.94253	CCA		0.622	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2	NM_002487		11	100	1	0	2.27111e-07	1	2.336e-07	11	100				
GGT3P	2679	broad.mit.edu	37	22	18769203	18769203	+	RNA	SNP	G	G	A	rs111245818	byFrequency	TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr22:18769203G>A	ENST00000412448.1	-	0	1083							A6NGU5	GGT3_HUMAN	gamma-glutamyltransferase 3 pseudogene						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)										AGCCAGCCGCGGCAGGGTCAG	0.637													g|||	253	0.0505192	0.0068	0.0908	5008	,	,		47818	0.0079		0.1213	False		,,,				2504	0.0521					ENST00000412448.1																			0																																																			0							g.chr22:18769203G>A			22q11.21	2008-08-05	2008-03-10	2008-03-10	ENSG00000197421	ENSG00000197421		"""Gamma-glutamyltransferases"""	4252	pseudogene	pseudogene			"""gamma-glutamyltransferase 3"""	GGT3		8104871, 18357469	Standard	NR_003267		Approved		uc002zob.1	A6NGU5	OTTHUMG00000150161		22.37:g.18769203G>A			Somatic								WXS	Illumina GAIIx	Phase_I					0	1083	-									RNA	SNP	ENST00000412448.1	37																																																																																						0.637	GGT3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341281.1	NR_003267		5	45	0	0	0	1	0	5	45				
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	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		41	43	0	0	0	1	0	41	43				
EP300	2033	broad.mit.edu	37	22	41573600	41573600	+	Missense_Mutation	SNP	T	T	C			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr22:41573600T>C	ENST00000263253.7	+	31	7104	c.5885T>C	c.(5884-5886)aTg>aCg	p.M1962T	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1962					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ATGACTCCCATGGCCCCCATG	0.597			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"""T,  N, F, Mis, O"""	300 kd E1A-Binding protein gene			"""L, E"""	"""MLL, RUNXBP2"""		"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""		0				NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(5884-5886)aTg>aCg		E1A binding protein p300							67.0	65.0	66.0					22																	41573600		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41573600T>C	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.5885T>C	22.37:g.41573600T>C	ENSP00000263253:p.Met1962Thr		Somatic				RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	p.M1962T	NM_001429.3	NP_001420.2	WXS	Illumina GAIIx	Phase_I	Q09472	EP300_HUMAN			31	7104	+			1962					B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.5885T>C	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	T	11.41	1.629237	0.28978	.	.	ENSG00000100393	ENST00000263253	D	0.82984	-1.67	5.32	5.32	0.75619	.	0.000000	0.64402	D	0.000015	T	0.76644	0.4016	L	0.52364	1.645	0.45205	D	0.998213	B	0.30482	0.281	B	0.21917	0.037	T	0.73190	-0.4061	10	0.15499	T	0.54	-8.3909	15.2854	0.73826	0.0:0.0:0.0:1.0	.	1962	Q09472	EP300_HUMAN	T	1962	ENSP00000263253:M1962T	ENSP00000263253:M1962T	M	+	2	0	EP300	39903546	1.000000	0.71417	0.931000	0.37212	0.549000	0.35272	4.068000	0.57534	2.016000	0.59253	0.459000	0.35465	ATG		0.597	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		26	34	0	0	0	1	0	26	34				
KLHL31	401265	broad.mit.edu	37	6	53519136	53519136	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr6:53519136C>T	ENST00000407079.1	-	1	934	c.935G>A	c.(934-936)cGa>cAa	p.R312Q	KLHL31_ENST00000370905.3_Missense_Mutation_p.R312Q			Q9H511	KLH31_HUMAN	kelch-like family member 31	312					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					GCAGCCACCTCGGATTCTTGT	0.483																																						ENST00000370905.3																			0				autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20						c.(934-936)cGa>cAa		kelch-like family member 31							145.0	137.0	139.0					6																	53519136		2203	4300	6503	SO:0001583	missense	401265				regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr6:53519136C>T		CCDS34478.1	6p12.1	2013-09-27	2013-02-22	2007-01-09	ENSG00000124743	ENSG00000124743		"""Kelch-like"", ""BTB/POZ domain containing"""	21353	protein-coding gene	gene with protein product		610749	"""kelch repeat and BTB (POZ) domain containing 1"", ""kelch-like 31 (Drosophila)"""	KBTBD1			Standard	NM_001003760		Approved	bA345L23.2, BKLHD6	uc003pcb.4	Q9H511	OTTHUMG00000014882	ENST00000407079.1:c.935G>A	6.37:g.53519136C>T	ENSP00000384644:p.Arg312Gln		Somatic				KLHL31_ENST00000407079.1_Missense_Mutation_p.R312Q	p.R312Q	NM_001003760.4	NP_001003760.2	WXS	Illumina GAIIx	Phase_I	Q9H511	KLH31_HUMAN			2	1075	-	Lung NSC(77;0.0158)		312					A6N9J2|B2RP49	Missense_Mutation	SNP	ENST00000407079.1	37	c.935G>A	CCDS34478.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.260823	0.80246	.	.	ENSG00000124743	ENST00000370905;ENST00000407079	T;T	0.74002	-0.8;-0.8	5.49	5.49	0.81192	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.88822	0.6541	M	0.92833	3.35	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.90999	0.4841	10	0.87932	D	0	.	19.4094	0.94662	0.0:1.0:0.0:0.0	.	312	Q9H511	KLH31_HUMAN	Q	312	ENSP00000359942:R312Q;ENSP00000384644:R312Q	ENSP00000359942:R312Q	R	-	2	0	KLHL31	53627095	1.000000	0.71417	0.972000	0.41901	0.594000	0.36715	7.818000	0.86416	2.583000	0.87209	0.561000	0.74099	CGA		0.483	KLHL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040965.1	NM_001003760		54	58	0	0	0	1	0	54	58				
RPS6KC1	26750	broad.mit.edu	37	1	213415244	213415244	+	Missense_Mutation	SNP	G	G	T			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr1:213415244G>T	ENST00000366960.3	+	11	2575	c.2425G>T	c.(2425-2427)Gta>Tta	p.V809L	RPS6KC1_ENST00000543354.1_Missense_Mutation_p.V512L|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.V597L|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.V797L|RPS6KC1_ENST00000490299.1_3'UTR	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	809	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		TGAGTCAGCAGTAACTGCAAA	0.393																																						ENST00000366960.3																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43						c.(2425-2427)Gta>Tta		ribosomal protein S6 kinase, 52kDa, polypeptide 1							125.0	127.0	127.0					1																	213415244		2203	4300	6503	SO:0001583	missense	26750				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	g.chr1:213415244G>T	AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.2425G>T	1.37:g.213415244G>T	ENSP00000355927:p.Val809Leu		Somatic				RPS6KC1_ENST00000543470.1_Missense_Mutation_p.V597L|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.V797L|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.V512L	p.V809L	NM_012424.3	NP_036556.2	WXS	Illumina GAIIx	Phase_I	Q96S38	KS6C1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)	11	2575	+			809			Protein kinase 2.		B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	ENST00000366960.3	37	c.2425G>T	CCDS1513.1	.	.	.	.	.	.	.	.	.	.	G	0.207	-1.039505	0.02013	.	.	ENSG00000136643	ENST00000543470;ENST00000366960;ENST00000366959;ENST00000543354	T;T;T;T	0.39056	1.47;1.49;1.5;1.1	5.63	1.23	0.21249	Protein kinase, catalytic domain (1);	1.366050	0.04548	N	0.389286	T	0.30355	0.0762	L	0.36672	1.1	0.09310	N	1	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.19128	-1.0315	10	0.35671	T	0.21	-24.3873	1.1846	0.01852	0.197:0.1561:0.3853:0.2615	.	597;809;797	F5H7T0;Q96S38;B1APS8	.;KS6C1_HUMAN;.	L	597;809;797;512	ENSP00000442306:V597L;ENSP00000355927:V809L;ENSP00000355926:V797L;ENSP00000439282:V512L	ENSP00000355926:V797L	V	+	1	0	RPS6KC1	211481867	0.000000	0.05858	0.000000	0.03702	0.164000	0.22412	-0.165000	0.09968	0.259000	0.21709	0.655000	0.94253	GTA		0.393	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	NM_012424		37	37	1	0	5.43694e-19	1	5.9312e-19	37	37				
COL4A2	1284	broad.mit.edu	37	13	111098204	111098204	+	Missense_Mutation	SNP	G	G	C			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr13:111098204G>C	ENST00000360467.5	+	17	1292	c.986G>C	c.(985-987)gGg>gCg	p.G329A		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	329	Triple-helical region.				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)			GGCTATCAAGGGCCTGATGGA	0.512																																						ENST00000360467.5																			0				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						c.(985-987)gGg>gCg		collagen, type IV, alpha 2							106.0	110.0	108.0					13																	111098204		1926	4122	6048	SO:0001583	missense	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111098204G>C	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.986G>C	13.37:g.111098204G>C	ENSP00000353654:p.Gly329Ala		Somatic					p.G329A	NM_001846.2	NP_001837.2	WXS	Illumina GAIIx	Phase_I	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		17	1292	+	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)	329			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	c.986G>C	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.289460	0.40494	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.99329	-5.75	3.74	3.74	0.42951	.	0.122377	0.36591	N	0.002507	D	0.99489	0.9818	M	0.94142	3.5	0.44117	D	0.996898	D	0.76494	0.999	D	0.91635	0.999	D	0.98095	1.0411	10	0.62326	D	0.03	.	11.36	0.49638	0.0:0.0:1.0:0.0	.	329	P08572	CO4A2_HUMAN	A	329	ENSP00000353654:G329A	ENSP00000257309:G329A	G	+	2	0	COL4A2	109896205	0.992000	0.36948	0.435000	0.26784	0.391000	0.30476	3.423000	0.52756	2.376000	0.81061	0.643000	0.83706	GGG		0.512	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		37	49	0	0	0	1	0	37	49				
SF3B1	23451	broad.mit.edu	37	2	198267370	198267370	+	Missense_Mutation	SNP	T	T	G			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr2:198267370T>G	ENST00000335508.6	-	14	2078	c.1987A>C	c.(1987-1989)Act>Cct	p.T663P	SF3B1_ENST00000462613.1_5'Flank|SNORA4_ENST00000365564.1_RNA	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	663					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)			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)			TTAATACCAGTGTGTCTCGCT	0.418			Mis		myelodysplastic syndrome																																	ENST00000335508.6				Dom	yes		2	2q33.1	23451	Mis	"""splicing factor 3b, subunit 1, 155kDa"""			L			myelodysplastic syndrome		0				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.(1987-1989)Act>Cct		splicing factor 3b, subunit 1, 155kDa							122.0	121.0	122.0					2																	198267370		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.chr2:198267370T>G	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.1987A>C	2.37:g.198267370T>G	ENSP00000335321:p.Thr663Pro		Somatic					p.T663P	NM_012433.2	NP_036565.2	WXS	Illumina GAIIx	Phase_I	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		14	2078	-								E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.1987A>C	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.775956	0.90195	.	.	ENSG00000115524	ENST00000335508	T	0.66638	-0.22	5.68	5.68	0.88126	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.88032	0.6328	H	0.96662	3.86	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92028	0.5631	10	0.87932	D	0	.	15.938	0.79729	0.0:0.0:0.0:1.0	.	663	O75533	SF3B1_HUMAN	P	663	ENSP00000335321:T663P	ENSP00000335321:T663P	T	-	1	0	SF3B1	197975615	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.877000	0.87225	2.167000	0.68274	0.459000	0.35465	ACT		0.418	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			17	24	0	0	0	1	0	17	24				
ARSI	340075	broad.mit.edu	37	5	149677696	149677696	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr5:149677696G>A	ENST00000328668.7	-	2	1370	c.791C>T	c.(790-792)gCg>gTg	p.A264V		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	264					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACCATGGCCGCGTACTTCCG	0.587																																						ENST00000328668.7																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23						c.(790-792)gCg>gTg		arylsulfatase family, member I							45.0	40.0	42.0					5																	149677696		2203	4300	6503	SO:0001583	missense	340075					endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding	g.chr5:149677696G>A	AY875937	CCDS34275.1	5q32	2014-03-03	2006-03-07			ENSG00000183876		"""Arylsulfatase family"""	32521	protein-coding gene	gene with protein product		610009	"""arylsulfatase I"""			16174644, 24482476	Standard	NM_001012301		Approved	FLJ16069, SPG66	uc003lrv.2	Q5FYB1		ENST00000328668.7:c.791C>T	5.37:g.149677696G>A	ENSP00000333395:p.Ala264Val		Somatic					p.A264V	NM_001012301.2	NP_001012301.1	WXS	Illumina GAIIx	Phase_I	Q5FYB1	ARSI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	1370	-			264					A1L3B0|B3KV22|B7XD03	Missense_Mutation	SNP	ENST00000328668.7	37	c.791C>T	CCDS34275.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.764814	0.90020	.	.	ENSG00000183876	ENST00000328668;ENST00000515301	D;D	0.96856	-4.15;-4.15	4.46	4.46	0.54185	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98121	0.9380	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99116	1.0848	10	0.87932	D	0	.	17.6599	0.88189	0.0:0.0:1.0:0.0	.	264	Q5FYB1	ARSI_HUMAN	V	264;121	ENSP00000333395:A264V;ENSP00000426879:A121V	ENSP00000333395:A264V	A	-	2	0	ARSI	149657889	1.000000	0.71417	0.978000	0.43139	0.951000	0.60555	9.591000	0.98241	2.460000	0.83146	0.561000	0.74099	GCG		0.587	ARSI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373681.1	NM_001012301		3	26	0	0	0	1	0	3	26				
MUC17	140453	broad.mit.edu	37	7	100678988	100678988	+	Missense_Mutation	SNP	G	G	A	rs71286276		TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr7:100678988G>A	ENST00000306151.4	+	3	4355	c.4291G>A	c.(4291-4293)Gct>Act	p.A1431T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1431	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.A1431T(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GACCACTTCTGCTGAAGCCAC	0.488																																						ENST00000306151.4																			1	Substitution - Missense(1)	p.A1431T(1)	kidney(1)	NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(4291-4293)Gct>Act		mucin 17, cell surface associated							207.0	222.0	217.0					7																	100678988		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100678988G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4291G>A	7.37:g.100678988G>A	ENSP00000302716:p.Ala1431Thr		Somatic					p.A1431T	NM_001040105.1	NP_001035194.1	WXS	Illumina GAIIx	Phase_I	Q685J3	MUC17_HUMAN			3	4355	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1431			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.4291G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	a	3.722	-0.057377	0.07317	.	.	ENSG00000169876	ENST00000306151	T	0.02656	4.21	0.982	-0.425	0.12317	.	.	.	.	.	T	0.01558	0.0050	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48779	-0.9005	9	0.02654	T	1	.	4.4511	0.11621	0.488:0.0:0.512:0.0	.	1431	Q685J3	MUC17_HUMAN	T	1431	ENSP00000302716:A1431T	ENSP00000302716:A1431T	A	+	1	0	MUC17	100465708	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-2.968000	0.00669	-0.790000	0.04492	-1.616000	0.00795	GCT		0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		6	183	0	0	0	1	0	6	183				
PNPLA7	375775	broad.mit.edu	37	9	140374845	140374845	+	Silent	SNP	T	T	C			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr9:140374845T>C	ENST00000277531.4	-	22	2610	c.2424A>G	c.(2422-2424)acA>acG	p.T808T	PNPLA7_ENST00000492278.1_5'Flank|PNPLA7_ENST00000406427.1_Silent_p.T833T|PNPLA7_ENST00000371457.1_Silent_p.T414T	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	808					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GGGTCCAGGGTGTGAGCGTGC	0.677																																						ENST00000406427.1																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(2497-2499)acA>acG		patatin-like phospholipase domain containing 7							69.0	53.0	58.0					9																	140374845		2203	4300	6503	SO:0001819	synonymous_variant	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140374845T>C	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.2424A>G	9.37:g.140374845T>C			Somatic				PNPLA7_ENST00000277531.4_Silent_p.T808T|PNPLA7_ENST00000371457.1_Silent_p.T414T	p.T833T	NM_001098537.1	NP_001092007.1	WXS	Illumina GAIIx	Phase_I	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	23	2835	-	all_cancers(76;0.126)		808					B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Silent	SNP	ENST00000277531.4	37	c.2499A>G	CCDS7045.1																																																																																				0.677	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		15	14	0	0	0	1	0	15	14				
MUC7	4589	broad.mit.edu	37	4	71346978	71346978	+	Missense_Mutation	SNP	T	T	C			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr4:71346978T>C	ENST00000304887.5	+	3	707	c.517T>C	c.(517-519)Tct>Cct	p.S173P	MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000413702.1_Missense_Mutation_p.S173P|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	173	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.S173P(3)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.522																																						ENST00000413702.1																			3	Substitution - Missense(3)	p.S173P(3)	lung(2)|kidney(1)	central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(517-519)Tct>Cct		mucin 7, secreted							341.0	284.0	303.0					4																	71346978		2203	4300	6503	SO:0001583	missense	4589					extracellular region	protein binding	g.chr4:71346978T>C	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.517T>C	4.37:g.71346978T>C	ENSP00000302021:p.Ser173Pro		Somatic				MUC7_ENST00000304887.5_Missense_Mutation_p.S173P|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P|MUC7_ENST00000514512.1_3'UTR	p.S173P	NM_001145006.1	NP_001138478.1	WXS	Illumina GAIIx	Phase_I	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	805	+			173			Thr-rich.		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	c.517T>C	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	T	8.294	0.818323	0.16607	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.52754	0.65;0.65;0.65	2.59	-1.83	0.07833	.	.	.	.	.	T	0.22360	0.0539	N	0.12182	0.205	0.09310	N	1	B	0.14805	0.011	B	0.10450	0.005	T	0.19451	-1.0305	8	.	.	.	-1.8981	3.858	0.08984	0.0:0.2646:0.3931:0.3423	.	173	Q8TAX7	MUC7_HUMAN	P	173	ENSP00000407422:S173P;ENSP00000400585:S173P;ENSP00000302021:S173P	.	S	+	1	0	MUC7	71381567	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.097000	0.01348	-0.350000	0.08262	-0.605000	0.04089	TCT		0.522	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		3	71	0	0	0	1	0	3	71				
SLC39A7	7922	broad.mit.edu	37	6	33169207	33169208	+	Frame_Shift_Ins	INS	-	-	T	rs574696426		TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr6:33169207_33169208insT	ENST00000374677.3	+	1	558_559	c.185_186insT	c.(184-189)catggcfs	p.G63fs	RXRB_ENST00000374685.4_5'Flank|RXRB_ENST00000374680.3_5'Flank|RXRB_ENST00000544186.1_5'Flank|RXRB_ENST00000413614.2_5'Flank|RNY4P10_ENST00000365571.1_RNA|SLC39A7_ENST00000374675.3_Frame_Shift_Ins_p.G63fs	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	63	His-rich.				transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion transmembrane transporter activity (GO:0046873)	p.S59_H66delSHAHGHGH(1)		NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						AGCCATGCCCATGGCCATGGCC	0.559																																						ENST00000374677.3																			1	Deletion - In frame(1)	p.S59_H66delSHAHGHGH(1)	NS(1)	NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						c.(184-189)catggcfs		solute carrier family 39 (zinc transporter), member 7																																				SO:0001589	frameshift_variant	7922					endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity	g.chr6:33169207_33169208insT	AF117221	CCDS43453.1	6p21.3	2014-01-28		2003-10-27	ENSG00000112473	ENSG00000112473		"""Solute carriers"""	4927	protein-coding gene	gene with protein product		601416	"""HLA class II region expressed gene KE4"""	HKE4		8812499, 1855816, 19246244, 15705588	Standard	NM_006979		Approved	H2-KE4, D6S2244E, KE4, RING5, ZIP7	uc003odf.3	Q92504	OTTHUMG00000031238	ENST00000374677.3:c.186dupT	6.37:g.33169208_33169208dupT	ENSP00000363809:p.Gly63fs		Somatic				SLC39A7_ENST00000374675.3_Frame_Shift_Ins_p.G63fs	p.G63fs	NM_006979.2	NP_008910.2	WXS	Illumina GAIIx	Phase_I	Q92504	S39A7_HUMAN			1	558_559	+			63			His-rich.		B0UXF6|Q5STP8|Q9UIQ0	Frame_Shift_Ins	INS	ENST00000374677.3	37	c.185_186insT	CCDS43453.1																																																																																				0.559	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076499.2	NM_006979		32	32						32	32	---	---	---	---
AIM1	202	broad.mit.edu	37	6	106960619	106960619	+	Frame_Shift_Del	DEL	A	A	-			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr6:106960619delA	ENST00000369066.3	+	1	890	c.403delA	c.(403-405)aagfs	p.K135fs		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		GTCCCCACCCAAGAGGGTGCC	0.756																																						ENST00000369066.3																			0				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69						c.(403-405)aagfs		absent in melanoma 1							4.0	6.0	5.0					6																	106960619		1924	3973	5897	SO:0001589	frameshift_variant	202						sugar binding	g.chr6:106960619delA	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.403delA	6.37:g.106960619delA	ENSP00000358062:p.Lys135fs		Somatic					p.K135fs	NM_001624.2	NP_001615	WXS	Illumina GAIIx	Phase_I	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	1	890	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	135					Q6P2P0|Q9BTM3	Frame_Shift_Del	DEL	ENST00000369066.3	37	c.403delA	CCDS34506.1																																																																																				0.756	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			2	4						2	4	---	---	---	---
TYRP1	7306	broad.mit.edu	37	9	12695537	12695541	+	Frame_Shift_Del	DEL	AAGTA	AAGTA	-			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr9:12695537_12695541delAAGTA	ENST00000388918.5	+	3	537_541	c.408_412delAAGTA	c.(406-414)ttaagtaaafs	p.SK137fs	TYRP1_ENST00000381136.2_5'Flank|TYRP1_ENST00000381137.2_5'UTR	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	137					acetoacetic acid metabolic process (GO:0043438)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen (GO:0016716)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		TTCTGGACTTAAGTAAAGAAGAAAA	0.429									Oculocutaneous Albinism																													ENST00000388918.5																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22						c.(406-414)ttaagtaaafs		tyrosinase-related protein 1																																				SO:0001589	frameshift_variant	7306	Oculocutaneous Albinism	Familial Cancer Database		melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity	g.chr9:12695537_12695541delAAGTA	L33830	CCDS34990.1	9p23	2013-01-08			ENSG00000107165	ENSG00000107165			12450	protein-coding gene	gene with protein product		115501		TYRP, CAS2		9434945	Standard	NM_000550		Approved	GP75, CATB, TRP, b-PROTEIN, OCA3	uc003zkv.4	P17643	OTTHUMG00000021034	ENST00000388918.5:c.408_412delAAGTA	9.37:g.12695537_12695541delAAGTA	ENSP00000373570:p.Ser137fs		Somatic				TYRP1_ENST00000381137.2_5'UTR	p.SK137fs	NM_000550.2	NP_000541.1	WXS	Illumina GAIIx	Phase_I	P17643	TYRP1_HUMAN		GBM - Glioblastoma multiforme(50;9.85e-06)	3	537_541	+		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)	137					P78468|P78469|Q13721|Q15679	Frame_Shift_Del	DEL	ENST00000388918.5	37	c.408_412delAAGTA	CCDS34990.1																																																																																				0.429	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055502.3	NM_000550		13	76						13	76	---	---	---	---
RENBP	5973	broad.mit.edu	37	X	153207074	153207074	+	Frame_Shift_Del	DEL	G	G	-			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chrX:153207074delG	ENST00000393700.3	-	8	882	c.802delC	c.(802-804)cgtfs	p.R268fs	RENBP_ENST00000412763.1_Frame_Shift_Del_p.S240fs|RENBP_ENST00000369997.3_Frame_Shift_Del_p.R254fs|RENBP_ENST00000462086.1_5'Flank	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	268					N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)|regulation of blood pressure (GO:0008217)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|endopeptidase inhibitor activity (GO:0004866)|N-acylglucosamine 2-epimerase activity (GO:0050121)			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	ATGCAATGACGGAGCAGAAAC	0.637																																						ENST00000393700.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(802-804)cgtfs		renin binding protein	N-Acetyl-D-glucosamine(DB00141)						68.0	61.0	63.0					X																	153207074		2203	4300	6503	SO:0001589	frameshift_variant	5973				mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity	g.chrX:153207074delG		CCDS14738.2	Xq28	2013-09-23	2001-11-28		ENSG00000102032	ENSG00000102032			9959	protein-coding gene	gene with protein product	"""N-acylglucosamine 2-epimerase"", ""GlcNAc 2-epimerase"", ""N-acetyl-D-glucosamine 2-epimerase"""	312420	"""renin-binding protein"""			1618798	Standard	NM_002910		Approved	RNBP, RBP	uc004fjo.2	P51606	OTTHUMG00000024224	ENST00000393700.3:c.802delC	X.37:g.153207074delG	ENSP00000377303:p.Arg268fs		Somatic				RENBP_ENST00000412763.1_Frame_Shift_Del_p.S240fs|RENBP_ENST00000369997.3_Frame_Shift_Del_p.R254fs	p.R268fs	NM_002910.5	NP_002901.2	WXS	Illumina GAIIx	Phase_I	P51606	RENBP_HUMAN			8	882	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		268					B4DNZ3|Q96BI6	Frame_Shift_Del	DEL	ENST00000393700.3	37	c.802delC	CCDS14738.2																																																																																				0.637	RENBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061103.3	NM_002910		21	46						21	46	---	---	---	---
