#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
TCHH	7062	broad.mit.edu	37	1	152081869	152081869	+	Missense_Mutation	SNP	T	T	G			TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr1:152081869T>G	ENST00000368804.1	-	2	3823	c.3824A>C	c.(3823-3825)cAa>cCa	p.Q1275P		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1275					keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCTCGCTCTTGCTGTTCACC	0.557																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(3823-3825)cAa>cCa		trichohyalin							91.0	92.0	92.0					1																	152081869		1999	4162	6161	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152081869T>G	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.3824A>C	1.37:g.152081869T>G	ENSP00000357794:p.Gln1275Pro		Somatic					p.Q1275P	NM_007113.2	NP_009044.2	WXS	Illumina GAIIx	Phase_I	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	3823	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1275					Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.3824A>C	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	T	9.525	1.109279	0.20714	.	.	ENSG00000159450	ENST00000368804	T	0.05513	3.43	3.82	3.82	0.43975	.	.	.	.	.	T	0.01156	0.0038	N	0.14661	0.345	0.09310	N	1	P	0.49185	0.92	B	0.34242	0.178	T	0.48186	-0.9057	9	0.30078	T	0.28	.	10.5569	0.45123	0.0:0.0:0.0:1.0	.	1275	Q07283	TRHY_HUMAN	P	1275	ENSP00000357794:Q1275P	ENSP00000357794:Q1275P	Q	-	2	0	TCHH	150348493	0.001000	0.12720	0.004000	0.12327	0.004000	0.04260	0.492000	0.22435	1.385000	0.46445	0.372000	0.22366	CAA		0.557	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		4	74	4	74	---	---	---	---
ADCY10	55811	broad.mit.edu	37	1	167871270	167871270	+	Silent	SNP	G	G	A			TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr1:167871270G>A	ENST00000367851.4	-	4	460	c.276C>T	c.(274-276)gaC>gaT	p.D92D	ADCY10_ENST00000367848.1_5'UTR|ADCY10_ENST00000545172.1_5'UTR	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	92	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						ATTTCAGGATGTCTCCTCCAA	0.393																																						ENST00000367851.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(274-276)gaC>gaT		adenylate cyclase 10 (soluble)							193.0	211.0	204.0					1																	167871270		2203	4300	6503	SO:0001819	synonymous_variant	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167871270G>A	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.276C>T	1.37:g.167871270G>A			Somatic				ADCY10_ENST00000367848.1_5'UTR|ADCY10_ENST00000545172.1_5'UTR	p.D92D	NM_018417.4	NP_060887.2	WXS	Illumina GAIIx	Phase_I	Q96PN6	ADCYA_HUMAN			4	460	-			92			Guanylate cyclase 1.		B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Silent	SNP	ENST00000367851.4	37	c.276C>T	CCDS1265.1																																																																																				0.393	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		40	205	40	205	---	---	---	---
DHX30	22907	broad.mit.edu	37	3	47889987	47889987	+	Missense_Mutation	SNP	A	A	T			TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr3:47889987A>T	ENST00000445061.1	+	16	2929	c.2522A>T	c.(2521-2523)gAc>gTc	p.D841V	MIR1226_ENST00000408658.1_RNA|DHX30_ENST00000348968.4_Missense_Mutation_p.D813V|DHX30_ENST00000457607.1_Missense_Mutation_p.D869V|DHX30_ENST00000446256.2_Missense_Mutation_p.D802V	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	841						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		AAGGCTGTGGACAGTCCAAAC	0.657																																						ENST00000446256.2																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37						c.(2404-2406)gAc>gTc		DEAH (Asp-Glu-Ala-His) box helicase 30							104.0	106.0	106.0					3																	47889987		2203	4300	6503	SO:0001583	missense	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47889987A>T	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.2522A>T	3.37:g.47889987A>T	ENSP00000405620:p.Asp841Val		Somatic				DHX30_ENST00000348968.4_Missense_Mutation_p.D813V|DHX30_ENST00000445061.1_Missense_Mutation_p.D841V|DHX30_ENST00000457607.1_Missense_Mutation_p.D869V	p.D802V	NM_014966.3	NP_055781.2	WXS	Illumina GAIIx	Phase_I	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	17	2977	+			841			Helicase C-terminal.		A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	c.2405A>T	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	A	18.35	3.604906	0.66445	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.04551	3.6;3.6;3.6;3.6	5.21	4.06	0.47325	.	0.154399	0.56097	D	0.000028	T	0.22437	0.0541	M	0.94021	3.485	0.80722	D	1	P;P	0.48294	0.779;0.908	B;P	0.56823	0.299;0.807	T	0.01977	-1.1236	10	0.87932	D	0	.	9.6665	0.39988	0.9186:0.0:0.0814:0.0	.	841;802	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	V	802;841;813;869	ENSP00000392601:D802V;ENSP00000405620:D841V;ENSP00000343442:D813V;ENSP00000394682:D869V	ENSP00000343442:D813V	D	+	2	0	DHX30	47864991	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.915000	0.75770	1.962000	0.57031	0.533000	0.62120	GAC		0.657	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		18	95	18	95	---	---	---	---
S100Z	170591	broad.mit.edu	37	5	76171233	76171233	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr5:76171233C>T	ENST00000317593.4	+	3	281	c.49C>T	c.(49-51)Cac>Tac	p.H17Y	S100Z_ENST00000513010.1_Missense_Mutation_p.H17Y	NM_130772.3	NP_570128.2	Q8WXG8	S100Z_HUMAN	S100 calcium binding protein Z	17	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			large_intestine(1)|ovary(1)	2		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;8.91e-51)|Epithelial(54;5.43e-45)|all cancers(79;1.82e-40)		TAGAATCTTCCACCGCTATTC	0.552																																						ENST00000317593.4																			0				large_intestine(1)|ovary(1)	2						c.(49-51)Cac>Tac		S100 calcium binding protein Z							64.0	67.0	66.0					5																	76171233		1969	4156	6125	SO:0001583	missense	170591						calcium ion binding	g.chr5:76171233C>T	AF437876	CCDS43333.1	5q13.3	2014-08-12	2006-09-11		ENSG00000171643	ENSG00000171643		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	30367	protein-coding gene	gene with protein product		610103	"""S100 calcium binding protein, zeta"""			11747429	Standard	NM_130772		Approved	Gm625, S100-zeta	uc003keq.4	Q8WXG8	OTTHUMG00000162441	ENST00000317593.4:c.49C>T	5.37:g.76171233C>T	ENSP00000320430:p.His17Tyr		Somatic				S100Z_ENST00000513010.1_Missense_Mutation_p.H17Y	p.H17Y	NM_130772.3	NP_570128.2	WXS	Illumina GAIIx	Phase_I	Q8WXG8	S100Z_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.91e-51)|Epithelial(54;5.43e-45)|all cancers(79;1.82e-40)	3	281	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	17			EF-hand 1.			Missense_Mutation	SNP	ENST00000317593.4	37	c.49C>T	CCDS43333.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.593945	0.28445	.	.	ENSG00000171643	ENST00000513010;ENST00000317593	T;T	0.16743	2.32;2.32	5.69	4.82	0.62117	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	0.096386	0.64402	D	0.000001	T	0.19525	0.0469	.	.	.	0.41768	D	0.989754	B	0.18863	0.031	B	0.30316	0.114	T	0.02893	-1.1097	9	0.48119	T	0.1	.	14.4293	0.67238	0.0:0.9282:0.0:0.0718	.	17	Q8WXG8	S100Z_HUMAN	Y	17	ENSP00000426768:H17Y;ENSP00000320430:H17Y	ENSP00000320430:H17Y	H	+	1	0	S100Z	76206989	1.000000	0.71417	0.992000	0.48379	0.080000	0.17528	2.924000	0.48876	1.400000	0.46741	0.655000	0.94253	CAC		0.552	S100Z-002	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368927.1	NM_130772		3	30	3	30	---	---	---	---
ADTRP	84830	broad.mit.edu	37	6	11714718	11714718	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr6:11714718C>T	ENST00000414691.3	-	6	1096	c.686G>A	c.(685-687)aGg>aAg	p.R229K	ADTRP_ENST00000514824.1_5'UTR|ADTRP_ENST00000229583.5_Missense_Mutation_p.R247K	NM_032744.3	NP_116133.1	Q96IZ2	ADTRP_HUMAN	androgen-dependent TFPI-regulating protein	229						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											CAATTACTTCCTCTTCTTCCG	0.428																																						ENST00000414691.3																			0											c.(685-687)aGg>aAg		androgen-dependent TFPI-regulating protein							151.0	144.0	146.0					6																	11714718		2203	4300	6503	SO:0001583	missense	84830					integral to membrane		g.chr6:11714718C>T	AJ420520	CCDS4521.1, CCDS47374.1	6p24.1	2012-01-30	2012-01-27	2012-01-27	ENSG00000111863	ENSG00000111863			21214	protein-coding gene	gene with protein product	"""androgen-induced 1-like"""	614348	"""chromosome 6 open reading frame 105"""	C6orf105		21868574	Standard	NM_032744		Approved	dJ413H6.1, AIG1L	uc011dip.2	Q96IZ2	OTTHUMG00000014260	ENST00000414691.3:c.686G>A	6.37:g.11714718C>T	ENSP00000404416:p.Arg229Lys		Somatic				ADTRP_ENST00000229583.5_Missense_Mutation_p.R247K|ADTRP_ENST00000514824.1_5'UTR	p.R229K	NM_032744.3	NP_116133.1	WXS	Illumina GAIIx	Phase_I	Q96IZ2	CF105_HUMAN			6	1096	-			229					B2R7T9|B4DV39|Q5THW1	Missense_Mutation	SNP	ENST00000414691.3	37	c.686G>A	CCDS4521.1	.	.	.	.	.	.	.	.	.	.	C	4.698	0.129828	0.08981	.	.	ENSG00000111863	ENST00000414691;ENST00000229583	T;T	0.28895	1.59;1.59	5.63	-0.821	0.10822	.	.	.	.	.	T	0.02304	0.0071	N	0.03948	-0.315	0.58432	D	0.999998	B;B	0.19583	0.037;0.002	B;B	0.18561	0.022;0.003	T	0.44636	-0.9315	9	0.02654	T	1	.	3.0657	0.06213	0.3062:0.3093:0.0:0.3846	.	247;229	Q96IZ2-2;Q96IZ2	.;ADTRP_HUMAN	K	229;247	ENSP00000404416:R229K;ENSP00000229583:R247K	ENSP00000229583:R247K	R	-	2	0	C6orf105	11822704	0.039000	0.19947	0.775000	0.31657	0.619000	0.37552	-0.128000	0.10531	-0.376000	0.07943	0.655000	0.94253	AGG		0.428	ADTRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039864.3	NM_032744		3	63	3	63	---	---	---	---
KIAA1586	57691	broad.mit.edu	37	6	56917924	56917924	+	Silent	SNP	A	A	G			TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr6:56917924A>G	ENST00000370733.4	+	4	834	c.627A>G	c.(625-627)gaA>gaG	p.E209E	KIAA1586_ENST00000545356.1_Silent_p.E182E	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586	209							nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AAATTAGGGAACATGATGTTT	0.313																																						ENST00000370733.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18						c.(625-627)gaA>gaG		KIAA1586							54.0	56.0	55.0					6																	56917924		2203	4299	6502	SO:0001819	synonymous_variant	57691						nucleic acid binding	g.chr6:56917924A>G	AB046806	CCDS34480.1, CCDS69138.1	6p12.1	2014-03-27			ENSG00000168116	ENSG00000168116			21360	protein-coding gene	gene with protein product						10997877	Standard	NM_001286274		Approved		uc003pdj.3	Q9HCI6	OTTHUMG00000014915	ENST00000370733.4:c.627A>G	6.37:g.56917924A>G			Somatic				KIAA1586_ENST00000545356.1_Silent_p.E182E	p.E209E	NM_020931.2	NP_065982.1	WXS	Illumina GAIIx	Phase_I	Q9HCI6	K1586_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		4	834	+	Lung NSC(77;0.0969)		209					A8K4M3|Q8IW25	Silent	SNP	ENST00000370733.4	37	c.627A>G	CCDS34480.1																																																																																				0.313	KIAA1586-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041033.1	NM_020931		16	41	16	41	---	---	---	---
SLC25A51	92014	broad.mit.edu	37	9	37888547	37888547	+	Start_Codon_SNP	SNP	T	T	C			TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr9:37888547T>C	ENST00000377716.2	-	3	744	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	SLC25A51_ENST00000380590.3_Start_Codon_SNP_p.M1V|SLC25A51_ENST00000242275.6_Start_Codon_SNP_p.M1V|RP11-613M10.9_ENST00000540557.1_Intron|SLC25A51_ENST00000496760.1_Intron			Q9H1U9	S2551_HUMAN	solute carrier family 25, member 51	1					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)											GAATCCATCATGCTGCTTAAG	0.348																																						ENST00000377716.2																			0											c.(1-3)Atg>Gtg		solute carrier family 25, member 51							93.0	95.0	94.0					9																	37888547		2203	4297	6500	SO:0001582	initiator_codon_variant	92014				transport	integral to membrane|mitochondrial inner membrane		g.chr9:37888547T>C	BC008500	CCDS6614.1	9p13.3-p12	2013-05-22	2012-03-29	2012-03-29	ENSG00000122696	ENSG00000122696		"""Solute carriers"""	23323	protein-coding gene	gene with protein product			"""mitochondrial carrier triple repeat 1"""	MCART1		12477932	Standard	NM_033412		Approved	MGC14836, CG7943	uc004aav.2	Q9H1U9	OTTHUMG00000019935	ENST00000377716.2:c.1A>G	9.37:g.37888547T>C	ENSP00000366945:p.Met1Val		Somatic				SLC25A51_ENST00000380590.3_Start_Codon_SNP_p.M1V|SLC25A51_ENST00000242275.6_Start_Codon_SNP_p.M1V|RP11-613M10.9_ENST00000540557.1_Intron|SLC25A51_ENST00000496760.1_Intron	p.M1V			WXS	Illumina GAIIx	Phase_I	Q9H1U9	MCAR1_HUMAN			3	744	-			1						Translation_Start_Site	SNP	ENST00000377716.2	37	c.1A>G	CCDS6614.1	.	.	.	.	.	.	.	.	.	.	T	11.54	1.670185	0.29693	.	.	ENSG00000122696	ENST00000380590;ENST00000377716;ENST00000242275	T;T;T	0.76186	-1.0;-1.0;-1.0	5.24	4.09	0.47781	.	0.221552	0.38326	N	0.001726	T	0.61236	0.2331	.	.	.	0.30522	N	0.768284	B	0.06786	0.001	B	0.06405	0.002	T	0.59553	-0.7433	9	0.39692	T	0.17	.	9.4723	0.38851	0.0:0.0871:0.0:0.9129	.	1	Q9H1U9	MCAR1_HUMAN	V	1	ENSP00000369964:M1V;ENSP00000366945:M1V;ENSP00000242275:M1V	ENSP00000242275:M1V	M	-	1	0	MCART1	37878547	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.983000	0.40648	1.982000	0.57802	0.482000	0.46254	ATG		0.348	SLC25A51-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313746.1	NM_033412	Missense_Mutation	26	90	26	90	---	---	---	---
RALGAPA1	253959	broad.mit.edu	37	14	36064859	36064859	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr14:36064859T>C	ENST00000389698.3	-	36	6062	c.5672A>G	c.(5671-5673)gAt>gGt	p.D1891G	RALGAPA1_ENST00000258840.6_Missense_Mutation_p.D1938G|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.D1904G|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.D1891G	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1891	Minimal domain that binds to TCF3/E12. {ECO:0000250}.|Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CAAAGAATCATCAGAATCAGA	0.338																																						ENST00000258840.6																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(5812-5814)gAt>gGt		Ral GTPase activating protein, alpha subunit 1 (catalytic)							141.0	140.0	140.0					14																	36064859		2202	4299	6501	SO:0001583	missense	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36064859T>C	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.5672A>G	14.37:g.36064859T>C	ENSP00000374348:p.Asp1891Gly		Somatic				RALGAPA1_ENST00000307138.6_Missense_Mutation_p.D1891G|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.D1891G|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.D1904G	p.D1938G	NM_001283044.1	NP_001269973.1	WXS	Illumina GAIIx	Phase_I	Q6GYQ0	RGPA1_HUMAN			37	6203	-			1891			Minimal domain that binds to TCF3/E12 (By similarity).|Rap-GAP.		A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	37	c.5813A>G	CCDS32065.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.8|21.8	4.196015|4.196015	0.78902|0.78902	.|.	.|.	ENSG00000174373|ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000554259;ENST00000382366;ENST00000553892|ENST00000554573	D;D;D;D;D;D|.	0.96232|.	-3.95;-3.95;-3.95;-3.95;-3.95;-3.95|.	5.23|5.23	5.23|5.23	0.72850|0.72850	Rap/ran-GAP (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.63861|0.63861	0.2547|0.2547	L|L	0.49571|0.49571	1.57|1.57	0.58432|0.58432	D|D	0.999994|0.999994	D;D;B;P|.	0.89917|.	0.999;1.0;0.302;0.932|.	D;D;B;P|.	0.87578|.	0.998;0.992;0.234;0.782|.	T|T	0.61584|0.61584	-0.7033|-0.7033	10|5	0.72032|.	D|.	0.01|.	-18.6724|-18.6724	15.4425|15.4425	0.75195|0.75195	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1938;1904;1891;1891|.	Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0|.	.;.;.;RGPA1_HUMAN|.	G|V	1891;1891;1891;1938;529;1904;1938|174	ENSP00000374348:D1891G;ENSP00000302647:D1891G;ENSP00000258840:D1938G;ENSP00000451133:D529G;ENSP00000371803:D1904G;ENSP00000451877:D1938G|.	ENSP00000258840:D1938G|.	D|M	-|-	2|1	0|0	RALGAPA1|RALGAPA1	35134610|35134610	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.997000|7.997000	0.88414|0.88414	2.100000|2.100000	0.63781|0.63781	0.533000|0.533000	0.62120|0.62120	GAT|ATG		0.338	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		20	104	20	104	---	---	---	---
TRPM7	54822	broad.mit.edu	37	15	50920444	50920444	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr15:50920444T>C	ENST00000313478.7	-	11	1488	c.1207A>G	c.(1207-1209)Act>Gct	p.T403A	TRPM7_ENST00000560955.1_Missense_Mutation_p.T403A	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	403					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		GATGCATTAGTACCTAATCGA	0.353																																						ENST00000313478.7																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52						c.(1207-1209)Act>Gct		transient receptor potential cation channel, subfamily M, member 7							88.0	80.0	82.0					15																	50920444		1833	4078	5911	SO:0001583	missense	54822				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity	g.chr15:50920444T>C	AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.1207A>G	15.37:g.50920444T>C	ENSP00000320239:p.Thr403Ala		Somatic				TRPM7_ENST00000560955.1_Missense_Mutation_p.T403A	p.T403A	NM_017672.4	NP_060142.3	WXS	Illumina GAIIx	Phase_I	Q96QT4	TRPM7_HUMAN		all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)	11	1488	-			403					Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	ENST00000313478.7	37	c.1207A>G	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	T	18.10	3.548463	0.65311	.	.	ENSG00000092439	ENST00000313478	T	0.26660	1.72	5.34	5.34	0.76211	.	0.047674	0.85682	D	0.000000	T	0.28928	0.0718	L	0.52364	1.645	0.80722	D	1	P	0.47762	0.9	B	0.44224	0.444	T	0.02226	-1.1192	10	0.32370	T	0.25	-19.6386	15.4845	0.75555	0.0:0.0:0.0:1.0	.	403	Q96QT4	TRPM7_HUMAN	A	403	ENSP00000320239:T403A	ENSP00000320239:T403A	T	-	1	0	TRPM7	48707736	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.841000	0.86834	2.240000	0.73641	0.533000	0.62120	ACT		0.353	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672		19	123	19	123	---	---	---	---
CYSLTR1	10800	broad.mit.edu	37	X	77529210	77529210	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chrX:77529210C>A	ENST00000373304.3	-	3	326	c.34G>T	c.(34-36)Gcc>Tcc	p.A12S		NM_001282187.1|NM_001282188.1|NM_006639.3	NP_001269116.1|NP_001269117.1|NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	12					defense response (GO:0006952)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|respiratory gaseous exchange (GO:0007585)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	leukotriene receptor activity (GO:0004974)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	TGGCATGTGGCAGAAGATACT	0.378																																						ENST00000373304.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14						c.(34-36)Gcc>Tcc		cysteinyl leukotriene receptor 1	Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)						168.0	130.0	143.0					X																	77529210		2203	4299	6502	SO:0001583	missense	10800				elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity	g.chrX:77529210C>A	AF119711	CCDS14439.1	Xq13-q21	2012-08-10			ENSG00000173198	ENSG00000173198		"""GPCR / Class A : Leukotriene receptors"""	17451	protein-coding gene	gene with protein product		300201				10391245, 10462554	Standard	NM_006639		Approved	CysLT1, CysLT(1), CYSLT1R	uc004edb.3	Q9Y271	OTTHUMG00000021889	ENST00000373304.3:c.34G>T	X.37:g.77529210C>A	ENSP00000362401:p.Ala12Ser		Somatic					p.A12S	NM_001282187.1|NM_001282188.1|NM_006639.3	NP_001269116.1|NP_001269117.1|NP_006630.1	WXS	Illumina GAIIx	Phase_I	Q9Y271	CLTR1_HUMAN			3	326	-			12					B2R954|D3DTE4|Q5JS94|Q8IV19	Missense_Mutation	SNP	ENST00000373304.3	37	c.34G>T	CCDS14439.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.930316	0.00488	.	.	ENSG00000173198	ENST00000373304	T	0.68479	-0.33	4.15	3.26	0.37387	.	0.928471	0.09074	N	0.852364	T	0.39784	0.1091	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31475	-0.9942	10	0.07644	T	0.81	.	4.6527	0.12603	0.2196:0.6615:0.0:0.1189	.	12	Q9Y271	CLTR1_HUMAN	S	12	ENSP00000362401:A12S	ENSP00000362401:A12S	A	-	1	0	CYSLTR1	77415866	0.000000	0.05858	0.723000	0.30687	0.389000	0.30415	0.372000	0.20467	0.543000	0.28864	0.456000	0.33151	GCC		0.378	CYSLTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057315.1			4	73	4	73	---	---	---	---
OR2T7	81458	broad.mit.edu	37	1	248604929	248604930	+	Frame_Shift_Ins	INS	-	-	G	rs548202702	byFrequency	TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr1:248604929_248604930insG	ENST00000460972.3	+	1	422_423	c.422_423insG	c.(421-426)ctgggafs	p.LG141fs				P0C7T2	OR2T7_HUMAN	olfactory receptor, family 2, subfamily T, member 7	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)										GCAGCCTGGCTGGGAGGGTCTA	0.579													|||unknown(NO_COVERAGE)	28	0.00559105	0.0197	0.0	5008	,	,		18388	0.0		0.002	False		,,,				2504	0.0					ENST00000460972.3																			0											c.(421-426)ctgggafs		olfactory receptor, family 2, subfamily T, member 7																																				SO:0001589	frameshift_variant	81458							g.chr1:248604929_248604930insG			1q44	2013-09-05		2004-03-10	ENSG00000227152	ENSG00000227152		"""GPCR / Class A : Olfactory receptors"""	15019	protein-coding gene	gene with protein product				OR2T7P			Standard	NG_004272		Approved	OST723		P0C7T2	OTTHUMG00000040449	ENST00000460972.3:c.425dupG	1.37:g.248604932_248604932dupG	ENSP00000475521:p.Leu141fs		Somatic					p.LG141fs			WXS	Illumina GAIIx	Phase_I					1	422_423	+									Frame_Shift_Ins	INS	ENST00000460972.3	37	c.422_423insG																																																																																					0.579	OR2T7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000097345.3			4	7	4	7	---	---	---	---
MXD4	10608	broad.mit.edu	37	4	2263671	2263671	+	Frame_Shift_Del	DEL	C	C	-			TCGA-V1-A8WN-01A-11D-A377-08	TCGA-V1-A8WN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c37c3d52-109b-4aa9-91af-4599adb223f0	c2f36eb3-3972-4616-84d6-c570b24881f2	g.chr4:2263671delC	ENST00000337190.2	-	1	350	c.37delG	c.(37-39)gccfs	p.A13fs	MXD4_ENST00000515378.1_5'UTR	NM_006454.2	NP_006445.1	Q14582	MAD4_HUMAN	MAX dimerization protein 4	13	Interaction with SIN3A and SIN3B. {ECO:0000250}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						AGGTACTCGGCCGCCTCCAGC	0.801																																						ENST00000337190.2																			0				breast(1)|endometrium(1)|kidney(1)|lung(3)	6						c.(37-39)gccfs		MAX dimerization protein 4							5.0	6.0	6.0					4																	2263671		1637	3171	4808	SO:0001589	frameshift_variant	10608				negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity	g.chr4:2263671delC		CCDS3361.1	4p16.3	2008-08-19			ENSG00000123933	ENSG00000123933		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	13906	protein-coding gene	gene with protein product						8521822	Standard	NM_006454		Approved	MAD4, MSTP149, MST149, bHLHc12	uc003geu.1	Q14582	OTTHUMG00000090243	ENST00000337190.2:c.37delG	4.37:g.2263671delC	ENSP00000337889:p.Ala13fs		Somatic				MXD4_ENST00000515378.1_5'UTR	p.A13fs	NM_006454.2	NP_006445.1	WXS	Illumina GAIIx	Phase_I	Q14582	MAD4_HUMAN			1	350	-			13			Interaction with SIN3A and SIN3B (By similarity).		A2A335|Q5TZX4	Frame_Shift_Del	DEL	ENST00000337190.2	37	c.37delG	CCDS3361.1																																																																																				0.801	MXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206519.1	NM_006454		2	4	2	4	---	---	---	---
