#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_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	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
CREBBP	1387	broad.mit.edu	37	16	3781375	3781375	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr16:3781375G>A	ENST00000262367.5	-	30	5799	c.4990C>T	c.(4990-4992)Cgc>Tgc	p.R1664C	CREBBP_ENST00000382070.3_Missense_Mutation_p.R1626C	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1664	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Interaction with TRERF1.		R -> H (in RSTS1; abolishes acetyltransferase activity). {ECO:0000269|PubMed:12566391, ECO:0000269|PubMed:15706485}.		cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.R1664C(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AAGGCGTCGCGCCCATCCATG	0.642			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"""T, N, F, Mis, O"""	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"""MLL, MORF, RUNXBP2"""		"""ALL, AML, DLBCL, B-NHL """		1	Substitution - Missense(1)	p.R1664C(1)	urinary_tract(1)	NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(4990-4992)Cgc>Tgc		CREB binding protein							60.0	41.0	48.0					16																	3781375		2197	4300	6497	SO:0001583	missense	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3781375G>A	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4990C>T	16.37:g.3781375G>A	ENSP00000262367:p.Arg1664Cys					CREBBP_ENST00000382070.3_Missense_Mutation_p.R1626C	p.R1664C	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	30	5799	-		Ovarian(90;0.0266)	1664		R -> H (in RSTS1; abolishes acetyltransferase activity).	Interaction with TRERF1.		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.4990C>T	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	g	16.15	3.042873	0.55003	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.93189	-3.18;-3.08	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000001	D	0.97498	0.9181	M	0.93808	3.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.993	D	0.98070	1.0398	10	0.87932	D	0	-23.3927	14.9919	0.71396	0.0:0.0:0.8575:0.1425	.	1694;1664	Q4LE28;Q92793	.;CBP_HUMAN	C	1664;1694;1626;199	ENSP00000262367:R1664C;ENSP00000371502:R1626C	ENSP00000262367:R1664C	R	-	1	0	CREBBP	3721376	1.000000	0.71417	0.991000	0.47740	0.974000	0.67602	4.495000	0.60353	2.780000	0.95670	0.655000	0.94253	CGC		0.642	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		6	17	0	0	0	1	0	6	17				
TGM7	116179	broad.mit.edu	37	15	43574758	43574758	+	Silent	SNP	G	G	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr15:43574758G>A	ENST00000452443.2	-	8	1069	c.1065C>T	c.(1063-1065)aaC>aaT	p.N355N		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	355					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	CCTGCCACCCGTTGTATCCTG	0.562																																						ENST00000452443.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39						c.(1063-1065)aaC>aaT		transglutaminase 7	L-Glutamine(DB00130)						84.0	72.0	76.0					15																	43574758		2202	4299	6501	SO:0001819	synonymous_variant	116179				peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43574758G>A	AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495		"""Transglutaminases"""	30790	protein-coding gene	gene with protein product	"""transglutaminase Z"""	606776				11390390	Standard	NM_052955		Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.1065C>T	15.37:g.43574758G>A							p.N355N	NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN		GBM - Glioblastoma multiforme(94;9.14e-07)	8	1069	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	355						Silent	SNP	ENST00000452443.2	37	c.1065C>T	CCDS32213.1																																																																																				0.562	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432489.1	NM_052955		3	6	0	0	0	1	0	3	6				
RNF175	285533	broad.mit.edu	37	4	154636798	154636798	+	Missense_Mutation	SNP	C	C	T	rs181124344	byFrequency	TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr4:154636798C>T	ENST00000347063.4	-	7	1019	c.647G>A	c.(646-648)cGg>cAg	p.R216Q	RNF175_ENST00000274068.4_Missense_Mutation_p.R88Q	NM_173662.2	NP_775933	Q8N4F7	RN175_HUMAN	ring finger protein 175	216						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	13	all_hematologic(180;0.093)	Renal(120;0.118)				TGTAGGCAACCGGCTGACACT	0.502													C|||	17	0.00339457	0.0113	0.0	5008	,	,		20329	0.002		0.0	False		,,,				2504	0.0					ENST00000274068.4																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	13						c.(262-264)cGg>cAg		ring finger protein 175		C	GLN/ARG	48,4044		0,48,1998	81.0	76.0	78.0		647	3.5	1.0	4		78	0,8424		0,0,4212	yes	missense	RNF175	NM_173662.2	43	0,48,6210	TT,TC,CC		0.0,1.173,0.3835	benign	216/329	154636798	48,12468	2046	4212	6258	SO:0001583	missense	285533					integral to membrane	zinc ion binding	g.chr4:154636798C>T	BC034385	CCDS47149.1	4q31.3	2008-02-05			ENSG00000145428	ENSG00000145428		"""RING-type (C3HC4) zinc fingers"""	27735	protein-coding gene	gene with protein product							Standard	NM_173662		Approved	FLJ34190	uc003int.3	Q8N4F7	OTTHUMG00000161557	ENST00000347063.4:c.647G>A	4.37:g.154636798C>T	ENSP00000340979:p.Arg216Gln					RNF175_ENST00000347063.4_Missense_Mutation_p.R216Q	p.R88Q			Q8N4F7	RN175_HUMAN			6	639	-	all_hematologic(180;0.093)	Renal(120;0.118)	216					C9JL66|Q8NB61	Missense_Mutation	SNP	ENST00000347063.4	37	c.263G>A	CCDS47149.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	11.61	1.689217	0.29962	0.01173	0.0	ENSG00000145428	ENST00000347063;ENST00000274068	T;T	0.16597	2.33;2.33	4.35	3.48	0.39840	Zinc finger, RING/FYVE/PHD-type (1);	0.137252	0.46758	D	0.000264	T	0.05868	0.0153	N	0.14661	0.345	0.19575	N	0.999964	B;P	0.35628	0.411;0.513	B;B	0.26416	0.006;0.069	T	0.23440	-1.0188	10	0.35671	T	0.21	-13.4976	11.7585	0.51888	0.1774:0.8226:0.0:0.0	.	88;216	Q8NB61;Q8N4F7	.;RN175_HUMAN	Q	216;88	ENSP00000340979:R216Q;ENSP00000274068:R88Q	ENSP00000274068:R88Q	R	-	2	0	RNF175	154856248	0.987000	0.35691	0.982000	0.44146	0.050000	0.14768	1.865000	0.39479	1.374000	0.46228	0.591000	0.81541	CGG		0.502	RNF175-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365286.1	NM_173662		10	18	0	0	0	1	0	10	18				
IQGAP3	128239	broad.mit.edu	37	1	156499981	156499981	+	Silent	SNP	G	G	C			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr1:156499981G>C	ENST00000361170.2	-	34	4330	c.4320C>G	c.(4318-4320)gtC>gtG	p.V1440V	snoU13_ENST00000458777.1_RNA	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1440					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGTTCCGCAGGACGCGCCGCT	0.647																																						ENST00000361170.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75						c.(4318-4320)gtC>gtG		IQ motif containing GTPase activating protein 3							52.0	47.0	49.0					1																	156499981		2203	4300	6503	SO:0001819	synonymous_variant	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156499981G>C	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.4320C>G	1.37:g.156499981G>C							p.V1440V	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN			34	4330	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1440					Q5T3H8	Silent	SNP	ENST00000361170.2	37	c.4320C>G	CCDS1144.1																																																																																				0.647	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		6	11	0	0	0	1	0	6	11				
SPATA2	9825	broad.mit.edu	37	20	48522793	48522793	+	Missense_Mutation	SNP	G	G	A	rs183875038		TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr20:48522793G>A	ENST00000422556.1	-	3	1275	c.926C>T	c.(925-927)cCg>cTg	p.P309L	SPATA2_ENST00000543716.1_Missense_Mutation_p.P172L|SPATA2_ENST00000289431.5_Missense_Mutation_p.P309L	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	309					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			AAGCACATCCGGGCTGCCGTG	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		14573	0.0		0.001	False		,,,				2504	0.0					ENST00000422556.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20						c.(925-927)cCg>cTg		spermatogenesis associated 2							41.0	46.0	44.0					20																	48522793		2203	4300	6503	SO:0001583	missense	9825				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus		g.chr20:48522793G>A	AB018300	CCDS13422.1	20q13.13	2014-06-13			ENSG00000158480	ENSG00000158480			14681	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 145"""	607662					Standard	NM_001135773		Approved	KIAA0757, PD1, tamo, PPP1R145	uc002xuw.3	Q9UM82	OTTHUMG00000032704	ENST00000422556.1:c.926C>T	20.37:g.48522793G>A	ENSP00000416799:p.Pro309Leu					SPATA2_ENST00000543716.1_Missense_Mutation_p.P172L|SPATA2_ENST00000289431.5_Missense_Mutation_p.P309L	p.P309L	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;4.03e-06)		3	1275	-	Hepatocellular(150;0.133)		309					E1P626|O94857	Missense_Mutation	SNP	ENST00000422556.1	37	c.926C>T	CCDS13422.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	10.65	1.410809	0.25465	.	.	ENSG00000158480	ENST00000289431;ENST00000422556;ENST00000543716	T;T;T	0.49432	0.79;0.79;0.78	4.67	4.67	0.58626	.	0.558066	0.17491	N	0.172352	T	0.39489	0.1080	L	0.43152	1.355	0.38942	D	0.958165	B	0.31680	0.335	B	0.28465	0.09	T	0.31447	-0.9943	10	0.10636	T	0.68	-35.1994	17.7489	0.88428	0.0:0.0:1.0:0.0	.	309	Q9UM82	SPAT2_HUMAN	L	309;309;172	ENSP00000289431:P309L;ENSP00000416799:P309L;ENSP00000438855:P172L	ENSP00000289431:P309L	P	-	2	0	SPATA2	47956200	1.000000	0.71417	0.796000	0.32109	0.079000	0.17450	5.911000	0.69939	2.408000	0.81797	0.505000	0.49811	CCG		0.637	SPATA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079658.1	NM_006038		30	65	0	0	0	1	0	30	65				
QRICH1	54870	broad.mit.edu	37	3	49065256	49065256	+	IGR	SNP	A	A	T			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr3:49065256A>T	ENST00000395443.2	-	0	3549				RP13-131K19.6_ENST00000607245.1_RNA|IMPDH2_ENST00000326739.4_Missense_Mutation_p.C140S	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1							nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GGGATACCGCAGAAACCATGC	0.542																																						ENST00000326739.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16						c.(418-420)Tgc>Agc		IMP (inosine 5'-monophosphate) dehydrogenase 2	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)						63.0	62.0	62.0					3																	49065256		2203	4300	6503	SO:0001628	intergenic_variant	3615				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding	g.chr3:49065256A>T		CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772		3.37:g.49065256A>T							p.C140S	NM_000884.2	NP_000875.2	P12268	IMDH2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	5	457	-			140			CBS 1.		Q4G0F7|Q7L621|Q8TEA5	Missense_Mutation	SNP	ENST00000395443.2	37	c.418T>A	CCDS2787.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.18|11.18	1.563211|1.563211	0.27915|0.27915	.|.	.|.	ENSG00000178035|ENSG00000178035	ENST00000537036;ENST00000326739;ENST00000442157|ENST00000429182	D;D|.	0.91792|.	-2.91;-2.91|.	5.83|5.83	5.83|5.83	0.93111|0.93111	Aldolase-type TIM barrel (1);Cystathionine beta-synthase, core (3);IMP dehydrogenase/GMP reductase (1);|.	0.039454|.	0.85682|.	D|.	0.000000|.	T|T	0.14614|0.14614	0.0353|0.0353	N|N	0.00165|0.00165	-1.945|-1.945	0.80722|0.80722	D|D	1|1	B|.	0.02656|.	0.0|.	B|.	0.08055|.	0.003|.	T|T	0.39313|0.39313	-0.9620|-0.9620	10|5	0.02654|.	T|.	1|.	-13.3832|-13.3832	16.1911|16.1911	0.81989|0.81989	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	140|.	P12268|.	IMDH2_HUMAN|.	S|Q	140;140;115|71	ENSP00000321584:C140S;ENSP00000403502:C115S|.	ENSP00000321584:C140S|.	C|L	-|-	1|2	0|0	IMPDH2|IMPDH2	49040260|49040260	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	9.233000|9.233000	0.95337|0.95337	2.223000|2.223000	0.72356|0.72356	0.459000|0.459000	0.35465|0.35465	TGC|CTG		0.542	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730		15	43	0	0	0	1	0	15	43				
TRPM2	7226	broad.mit.edu	37	21	45817649	45817649	+	Missense_Mutation	SNP	C	C	T	rs149619816		TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr21:45817649C>T	ENST00000397928.1	+	13	2397	c.1952C>T	c.(1951-1953)gCg>gTg	p.A651V	TRPM2_ENST00000397932.2_Missense_Mutation_p.A651V|TRPM2_ENST00000300482.5_Missense_Mutation_p.A651V|TRPM2_ENST00000300481.9_Missense_Mutation_p.A631V|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	651					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TGCATCGCAGCGGCCTTGGCC	0.622													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19391	0.0		0.0	False		,,,				2504	0.0					ENST00000397928.1																			0				breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(1951-1953)gCg>gTg		transient receptor potential cation channel, subfamily M, member 2		C	VAL/ALA	7,4393	12.9+/-30.5	0,7,2193	49.0	41.0	44.0		1952	4.8	0.0	21	dbSNP_134	44	0,8588		0,0,4294	yes	missense	TRPM2	NM_003307.3	64	0,7,6487	TT,TC,CC		0.0,0.1591,0.0539	probably-damaging	651/1504	45817649	7,12981	2200	4294	6494	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45817649C>T	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.1952C>T	21.37:g.45817649C>T	ENSP00000381023:p.Ala651Val					TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.A651V|TRPM2_ENST00000300481.9_Missense_Mutation_p.A631V|TRPM2_ENST00000397932.2_Missense_Mutation_p.A651V	p.A651V	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN			13	2397	+			651					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.1952C>T	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.846215	0.91277	0.001591	0.0	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	D	0.85952	0.5817	M	0.84585	2.705	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.992;0.999	D	0.88623	0.3164	10	0.72032	D	0.01	-22.9909	17.8764	0.88826	0.0:1.0:0.0:0.0	.	651;437;651	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	V	651;651;631;651	ENSP00000300482:A651V;ENSP00000381023:A651V;ENSP00000300481:A631V;ENSP00000381026:A651V	ENSP00000300481:A631V	A	+	2	0	TRPM2	44642077	1.000000	0.71417	0.045000	0.18777	0.925000	0.55904	4.436000	0.59948	2.206000	0.71126	0.585000	0.79938	GCG		0.622	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		7	17	0	0	0	1	0	7	17				
SHD	56961	broad.mit.edu	37	19	4284902	4284902	+	Splice_Site	SNP	G	G	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr19:4284902G>A	ENST00000543264.2	+	4	2179		c.e4+1		SHD_ENST00000599689.1_Splice_Site|SHD_ENST00000600475.1_Splice_Site	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D											breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAAACAGCCGTGAGTGGGGA	0.587																																						ENST00000543264.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14						c.e4+1		Src homology 2 domain containing transforming protein D							39.0	45.0	43.0					19																	4284902		2203	4299	6502	SO:0001630	splice_region_variant	56961							g.chr19:4284902G>A	BC007206	CCDS12125.1	19p13.3	2013-02-14				ENSG00000105251		"""SH2 domain containing"""	30633	protein-coding gene	gene with protein product		610481				9315092	Standard	NM_020209		Approved		uc002lzw.2	Q96IW2		ENST00000543264.2:c.716+1G>A	19.37:g.4284902G>A						SHD_ENST00000600475.1_Splice_Site|SHD_ENST00000599689.1_Splice_Site		NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)	4	2179	+								Q96NC2	Splice_Site	SNP	ENST00000543264.2	37		CCDS12125.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.609073	0.87258	.	.	ENSG00000105251	ENST00000543264;ENST00000221852	.	.	.	4.44	4.44	0.53790	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5886	0.68347	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SHD	4235902	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.194000	0.89721	2.306000	0.77630	0.491000	0.48974	.		0.587	SHD-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458082.1	NM_020209	Intron	23	43	0	0	0	1	0	23	43				
TTN	7273	broad.mit.edu	37	2	179443857	179443857	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr2:179443857C>G	ENST00000591111.1	-	270	63201	c.62977G>C	c.(62977-62979)Gga>Cga	p.G20993R	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G13569R|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G22634R|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G20066R|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G13694R|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G13761R|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20993	Ig-like 112.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGATAGTTCCTTCCTTGGTG	0.443																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(67900-67902)Gga>Cga		titin							132.0	123.0	126.0					2																	179443857		1936	4145	6081	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179443857C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.62977G>C	2.37:g.179443857C>G	ENSP00000465570:p.Gly20993Arg					TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G13569R|RP11-171I2.2_ENST00000603521.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G13694R|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G20066R|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G20993R|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G13761R|TTN-AS1_ENST00000586831.1_RNA	p.G22634R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		320	68124	-			20993			Fibronectin type-III 64.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.67900G>C		.	.	.	.	.	.	.	.	.	.	C	11.68	1.710702	0.30322	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	5.98	5.98	0.97165	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.62829	0.2460	N	0.16708	0.43	0.37004	D	0.895391	D;D;D;D	0.54772	0.968;0.968;0.968;0.968	P;P;P;P	0.58331	0.837;0.837;0.837;0.837	T	0.70655	-0.4812	9	0.87932	D	0	.	15.1807	0.72956	0.141:0.859:0.0:0.0	.	13569;13694;13761;20993	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	20066;13569;13761;13694;13567	ENSP00000343764:G20066R;ENSP00000434586:G13569R;ENSP00000340554:G13761R;ENSP00000352154:G13694R	ENSP00000340554:G13761R	G	-	1	0	TTN	179152103	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.102000	0.57776	2.833000	0.97629	0.655000	0.94253	GGA		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		11	34	0	0	0	1	0	11	34				
BOD1L1	259282	broad.mit.edu	37	4	13600828	13600828	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr4:13600828T>C	ENST00000040738.5	-	10	7831	c.7696A>G	c.(7696-7698)Agt>Ggt	p.S2566G		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2566						nucleus (GO:0005634)	DNA binding (GO:0003677)										TTGGTGGTACTGGTTTTCAAG	0.468											OREG0016115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000040738.5																			0											c.(7696-7698)Agt>Ggt		biorientation of chromosomes in cell division 1-like 1							100.0	90.0	94.0					4																	13600828		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13600828T>C	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.7696A>G	4.37:g.13600828T>C	ENSP00000040738:p.Ser2566Gly		OREG0016115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	688		p.S2566G	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	7831	-			2566					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.7696A>G	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	T	6.653	0.489012	0.12641	.	.	ENSG00000038219	ENST00000040738	T	0.06933	3.24	4.82	-2.7	0.06004	.	0.707060	0.12868	N	0.432563	T	0.03305	0.0096	N	0.08118	0	0.09310	N	1	B	0.18461	0.028	B	0.14023	0.01	T	0.42155	-0.9468	10	0.25751	T	0.34	.	5.8566	0.18722	0.0:0.2272:0.2359:0.5369	.	2566	Q8NFC6	BOD1L_HUMAN	G	2566	ENSP00000040738:S2566G	ENSP00000040738:S2566G	S	-	1	0	BOD1L	13209926	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.299000	0.08254	-0.780000	0.04553	-1.477000	0.00996	AGT		0.468	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		8	11	0	0	0	1	0	8	11				
OBSCN	84033	broad.mit.edu	37	1	228461596	228461596	+	Missense_Mutation	SNP	G	G	A	rs369449033		TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr1:228461596G>A	ENST00000422127.1	+	18	5307	c.5263G>A	c.(5263-5265)Gat>Aat	p.D1755N	RP5-1139B12.3_ENST00000602947.1_RNA|OBSCN_ENST00000570156.2_Missense_Mutation_p.D2130N|RP5-1139B12.3_ENST00000602529.1_RNA|RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000359599.6_Missense_Mutation_p.D602N|OBSCN_ENST00000284548.11_Missense_Mutation_p.D1755N|OBSCN_ENST00000366707.4_De_novo_Start_OutOfFrame|OBSCN_ENST00000366709.4_De_novo_Start_OutOfFrame	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1755	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGGCTCAAGGATGGTGTGGA	0.647																																						ENST00000366707.4																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223								obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF		G	ASN/ASP,ASN/ASP	0,4176		0,0,2088	21.0	25.0	24.0		5263,5263	5.4	1.0	1		24	1,8429		0,1,4214	no	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	23,23	0,1,6302	AA,AG,GG		0.0119,0.0,0.0079	probably-damaging,probably-damaging	1755/7969,1755/6621	228461596	1,12605	2088	4215	6303	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228461596G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.5263G>A	1.37:g.228461596G>A	ENSP00000409493:p.Asp1755Asn					OBSCN_ENST00000284548.11_Missense_Mutation_p.D1755N|OBSCN_ENST00000570156.2_Missense_Mutation_p.D2130N|OBSCN_ENST00000366709.4_De_novo_Start_OutOfFrame|RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000359599.6_Missense_Mutation_p.D602N|OBSCN_ENST00000422127.1_Missense_Mutation_p.D1755N				Q5VST9	OBSCN_HUMAN			0	5307	+		Prostate(94;0.0405)						Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Translation_Start_Site	SNP	ENST00000422127.1	37		CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.499880	0.44455	0.0	1.19E-4	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599	T;T;T	0.75938	-0.98;-0.98;-0.98	5.38	5.38	0.77491	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.172227	0.39020	N	0.001493	T	0.81917	0.4924	L	0.56199	1.76	0.80722	D	1	D;D	0.89917	0.993;1.0	P;D	0.91635	0.881;0.999	T	0.79264	-0.1875	10	0.30854	T	0.27	.	13.4313	0.61057	0.0777:0.0:0.9223:0.0	.	1755;1755	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	N	1755;1755;602	ENSP00000284548:D1755N;ENSP00000409493:D1755N;ENSP00000352613:D602N	ENSP00000284548:D1755N	D	+	1	0	OBSCN	226528219	1.000000	0.71417	0.968000	0.41197	0.174000	0.22865	4.114000	0.57858	2.533000	0.85409	0.555000	0.69702	GAT		0.647	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		8	9	0	0	0	1	0	8	9				
KIAA1244	57221	broad.mit.edu	37	6	138601169	138601169	+	Missense_Mutation	SNP	G	G	A	rs369625027		TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr6:138601169G>A	ENST00000251691.4	+	14	2495	c.2329G>A	c.(2329-2331)Gtg>Atg	p.V777M		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GACCAGCGGCGTGCTGATGGT	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		21911	0.0		0.0	False		,,,				2504	0.001					ENST00000251691.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44						c.(2329-2331)Gtg>Atg		KIAA1244							134.0	116.0	122.0					6																	138601169		2203	4300	6503	SO:0001583	missense	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138601169G>A	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.2329G>A	6.37:g.138601169G>A	ENSP00000251691:p.Val777Met						p.V777M	NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	14	2495	+	Breast(32;0.135)		777			SEC7.			Missense_Mutation	SNP	ENST00000251691.4	37	c.2329G>A	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.949765	0.73787	.	.	ENSG00000112379	ENST00000251691	T	0.43294	0.95	5.86	4.99	0.66335	SEC7-like (1);	0.412335	0.28317	N	0.015785	T	0.22282	0.0537	M	0.65498	2.005	0.48830	D	0.99971	P	0.35155	0.487	B	0.21360	0.034	T	0.12344	-1.0551	10	0.51188	T	0.08	-14.9893	10.9793	0.47483	0.1417:0.0:0.8583:0.0	.	777	Q5TH69	BIG3_HUMAN	M	777	ENSP00000251691:V777M	ENSP00000251691:V777M	V	+	1	0	KIAA1244	138642862	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.597000	0.61062	1.493000	0.48517	0.655000	0.94253	GTG		0.547	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		17	26	0	0	0	1	0	17	26				
SRBD1	55133	broad.mit.edu	37	2	45620175	45620175	+	Silent	SNP	C	C	T			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr2:45620175C>T	ENST00000263736.4	-	20	2669	c.2607G>A	c.(2605-2607)gaG>gaA	p.E869E	SRBD1_ENST00000535761.1_Silent_p.E388E|SRBD1_ENST00000490133.1_5'UTR	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	869					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			CTGCAATTTTCTCCATTCCTT	0.403																																						ENST00000263736.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49						c.(2605-2607)gaG>gaA		S1 RNA binding domain 1							360.0	283.0	309.0					2																	45620175		2203	4300	6503	SO:0001819	synonymous_variant	55133				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding	g.chr2:45620175C>T	AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.2607G>A	2.37:g.45620175C>T						SRBD1_ENST00000535761.1_Silent_p.E388E|SRBD1_ENST00000490133.1_5'UTR	p.E869E	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)		20	2669	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	869					Q53T56|Q96TA4|Q9NW11	Silent	SNP	ENST00000263736.4	37	c.2607G>A	CCDS1823.1																																																																																				0.403	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	NM_018079		26	40	0	0	0	1	0	26	40				
FAIM	55179	broad.mit.edu	37	3	138341217	138341217	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr3:138341217G>A	ENST00000393035.2	+	3	408	c.299G>A	c.(298-300)tGg>tAg	p.W100*	FAIM_ENST00000338446.4_Nonsense_Mutation_p.W134*|FAIM_ENST00000393034.2_Nonsense_Mutation_p.W100*|FAIM_ENST00000464668.1_Nonsense_Mutation_p.W100*|FAIM_ENST00000360570.3_Nonsense_Mutation_p.W122*	NM_001033032.1	NP_001028204.1	Q9NVQ4	FAIM1_HUMAN	Fas apoptotic inhibitory molecule	100					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)	cytoplasm (GO:0005737)				kidney(1)|upper_aerodigestive_tract(1)	2						ACCAATACTTGGGTATTACAC	0.333																																						ENST00000338446.4																			0				kidney(1)|upper_aerodigestive_tract(1)	2						c.(400-402)tGg>tAg		Fas apoptotic inhibitory molecule							104.0	107.0	106.0					3																	138341217		2203	4300	6503	SO:0001587	stop_gained	55179				apoptosis	cytoplasm		g.chr3:138341217G>A	AK001444	CCDS3103.1, CCDS33864.1, CCDS33865.1	3q23	2008-07-18			ENSG00000158234	ENSG00000158234			18703	protein-coding gene	gene with protein product						10075978	Standard	NM_018147		Approved	FLJ10582, FAIM1	uc003esq.3	Q9NVQ4	OTTHUMG00000159885	ENST00000393035.2:c.299G>A	3.37:g.138341217G>A	ENSP00000376755:p.Trp100*					FAIM_ENST00000393034.2_Nonsense_Mutation_p.W100*|FAIM_ENST00000464668.1_Nonsense_Mutation_p.W100*|FAIM_ENST00000360570.3_Nonsense_Mutation_p.W122*|FAIM_ENST00000393035.2_Nonsense_Mutation_p.W100*	p.W134*	NM_001033030.1	NP_001028202.1	Q9NVQ4	FAIM1_HUMAN			4	1084	+			100					Q6IAN2	Nonsense_Mutation	SNP	ENST00000393035.2	37	c.401G>A	CCDS3103.1	.	.	.	.	.	.	.	.	.	.	G	37	6.065468	0.97251	.	.	ENSG00000158234	ENST00000338446;ENST00000360570;ENST00000393035;ENST00000393034;ENST00000464668;ENST00000479848	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.8292	17.6002	0.88024	0.0:0.0:1.0:0.0	.	.	.	.	X	134;122;100;100;100;100	.	ENSP00000342805:W134X	W	+	2	0	FAIM	139823907	1.000000	0.71417	0.650000	0.29550	0.966000	0.64601	9.869000	0.99810	2.745000	0.94114	0.650000	0.86243	TGG		0.333	FAIM-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357979.1	NM_001033032		14	24	0	0	0	1	0	14	24				
LAMA5	3911	broad.mit.edu	37	20	60895628	60895628	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr20:60895628C>T	ENST00000252999.3	-	50	6812	c.6746G>A	c.(6745-6747)cGg>cAg	p.R2249Q		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2249	Domain II and I.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GCCGCCTAGCCGCCGTGCGTC	0.687																																						ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(6745-6747)cGg>cAg		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						8.0	10.0	9.0					20																	60895628		2132	4224	6356	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60895628C>T	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.6746G>A	20.37:g.60895628C>T	ENSP00000252999:p.Arg2249Gln						p.R2249Q	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		50	6812	-	Breast(26;1.57e-08)		2249			Domain II and I.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.6746G>A	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	-	7.273	0.607523	0.14002	.	.	ENSG00000130702	ENST00000252999	T	0.09723	2.95	4.23	-8.47	0.00939	Laminin I (1);	1.655650	0.03769	N	0.259495	T	0.07593	0.0191	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.24297	-1.0164	10	0.14656	T	0.56	.	12.3952	0.55380	0.0869:0.2099:0.0:0.7032	.	2249	O15230	LAMA5_HUMAN	Q	2249	ENSP00000252999:R2249Q	ENSP00000252999:R2249Q	R	-	2	0	LAMA5	60329023	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.627000	0.00206	-2.707000	0.00395	-2.235000	0.00290	CGG		0.687	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		4	6	0	0	0	1	0	4	6				
PRDM9	56979	broad.mit.edu	37	5	23522989	23522989	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr5:23522989T>A	ENST00000296682.3	+	8	1059	c.877T>A	c.(877-879)Tgg>Agg	p.W293R		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	293	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TGGATACTCCTGGCTGGTAAG	0.493										HNSCC(3;0.000094)																												ENST00000296682.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(877-879)Tgg>Agg		PR domain containing 9							72.0	75.0	74.0					5																	23522989		2203	4300	6503	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23522989T>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.877T>A	5.37:g.23522989T>A	ENSP00000296682:p.Trp293Arg	HNSCC(3;0.000094)					p.W293R	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			8	1059	+			293			SET.		B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.877T>A	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	T	14.65	2.597463	0.46318	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.81078	-1.45	4.14	4.14	0.48551	SET domain (2);	0.000000	0.34156	N	0.004203	D	0.91192	0.7225	H	0.94462	3.54	0.58432	D	0.999993	D	0.71674	0.998	D	0.81914	0.995	D	0.92269	0.5823	10	0.87932	D	0	-20.5791	9.8586	0.41101	0.0:0.0:0.0:1.0	.	293	Q9NQV7	PRDM9_HUMAN	R	293;87	ENSP00000296682:W293R	ENSP00000253473:W87R	W	+	1	0	PRDM9	23558746	1.000000	0.71417	0.999000	0.59377	0.141000	0.21300	5.340000	0.65958	1.634000	0.50500	0.487000	0.48397	TGG		0.493	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		19	48	0	0	0	1	0	19	48				
C5	727	broad.mit.edu	37	9	123812513	123812513	+	Silent	SNP	C	C	T	rs35352264	byFrequency	TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr9:123812513C>T	ENST00000223642.1	-	1	41	c.12G>A	c.(10-12)ttG>ttA	p.L4L		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	4					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	AAAGTATTCCCAAAAGGCCCA	0.373																																						ENST00000223642.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(10-12)ttG>ttA		complement component 5	Eculizumab(DB01257)						131.0	136.0	134.0					9																	123812513		2203	4300	6503	SO:0001819	synonymous_variant	727				activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity	g.chr9:123812513C>T	M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"""Complement system"", ""Endogenous ligands"""	1331	protein-coding gene	gene with protein product	"""prepro-C5"", ""C5a anaphylatoxin"""	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.12G>A	9.37:g.123812513C>T							p.L4L	NM_001735.2	NP_001726.2	P01031	CO5_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	1	41	-			4					Q14CJ0|Q27I61	Silent	SNP	ENST00000223642.1	37	c.12G>A	CCDS6826.1																																																																																				0.373	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735		19	44	0	0	0	1	0	19	44				
HHIP	64399	broad.mit.edu	37	4	145636526	145636526	+	Missense_Mutation	SNP	G	G	A	rs199900341		TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr4:145636526G>A	ENST00000296575.3	+	10	2277	c.1622G>A	c.(1621-1623)gGg>gAg	p.G541E		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	541					carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GGCACTAGTGGGTCCTGTAGA	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		17339	0.0		0.001	False		,,,				2504	0.0					ENST00000296575.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(1621-1623)gGg>gAg		hedgehog interacting protein							122.0	112.0	115.0					4																	145636526		2203	4300	6503	SO:0001583	missense	64399					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding	g.chr4:145636526G>A	AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"""hedgehog-interacting protein"""			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.1622G>A	4.37:g.145636526G>A	ENSP00000296575:p.Gly541Glu						p.G541E	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN		GBM - Glioblastoma multiforme(119;0.0185)	10	2277	+	all_hematologic(180;0.151)		541					Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Missense_Mutation	SNP	ENST00000296575.3	37	c.1622G>A	CCDS3762.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	20.1	3.932900	0.73442	.	.	ENSG00000164161	ENST00000296575	T	0.05580	3.42	6.06	6.06	0.98353	Six-bladed beta-propeller, TolB-like (1);	0.204963	0.53938	D	0.000060	T	0.13713	0.0332	L	0.41710	1.295	0.80722	D	1	D	0.76494	0.999	P	0.55508	0.777	T	0.15150	-1.0447	10	0.12766	T	0.61	-12.855	20.6243	0.99512	0.0:0.0:1.0:0.0	.	541	Q96QV1	HHIP_HUMAN	E	541	ENSP00000296575:G541E	ENSP00000296575:G541E	G	+	2	0	HHIP	145855976	1.000000	0.71417	0.926000	0.36857	0.942000	0.58702	5.868000	0.69605	2.879000	0.98667	0.650000	0.86243	GGG		0.428	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2			15	33	0	0	0	1	0	15	33				
B4GALT1	2683	broad.mit.edu	37	9	33135343	33135343	+	Silent	SNP	G	G	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr9:33135343G>A	ENST00000379731.4	-	2	678	c.492C>T	c.(490-492)ggC>ggT	p.G164G	B4GALT1_ENST00000535206.1_Silent_p.G164G	NM_001497.3	NP_001488.2	P15291	B4GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1	164					acute inflammatory response (GO:0002526)|angiogenesis involved in wound healing (GO:0060055)|binding of sperm to zona pellucida (GO:0007339)|branching morphogenesis of an epithelial tube (GO:0048754)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|development of secondary sexual characteristics (GO:0045136)|epithelial cell development (GO:0002064)|extracellular matrix organization (GO:0030198)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|lactose biosynthetic process (GO:0005989)|leukocyte migration (GO:0050900)|mammary gland development (GO:0030879)|multicellular organism reproduction (GO:0032504)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|oligosaccharide biosynthetic process (GO:0009312)|penetration of zona pellucida (GO:0007341)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of acrosome reaction (GO:0060046)|regulation of cellular component movement (GO:0051270)|single fertilization (GO:0007338)|small molecule metabolic process (GO:0044281)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|desmosome (GO:0030057)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|glycocalyx (GO:0030112)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi trans cisterna (GO:0000138)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-tubulin binding (GO:0043014)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|beta-tubulin binding (GO:0048487)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|manganese ion binding (GO:0030145)|N-acetyllactosamine synthase activity (GO:0003945)|protein homodimerization activity (GO:0042803)|UDP-galactosyltransferase activity (GO:0035250)			endometrium(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)	14			LUSC - Lung squamous cell carcinoma(29;0.0084)	GBM - Glioblastoma multiforme(74;0.121)	N-Acetyl-D-glucosamine(DB00141)	CATAGCGGCCGCCCATCTTCA	0.557																																						ENST00000379731.4																			0				endometrium(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)	14						c.(490-492)ggC>ggT		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1	N-Acetyl-D-glucosamine(DB00141)						92.0	79.0	83.0					9																	33135343		2203	4300	6503	SO:0001819	synonymous_variant	2683				oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	basolateral plasma membrane|brush border membrane|desmosome|external side of plasma membrane|extracellular region|glycocalyx|Golgi cisterna membrane|Golgi trans cisterna|integral to membrane	alpha-tubulin binding|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|beta-tubulin binding|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity|protein binding|protein homodimerization activity	g.chr9:33135343G>A	X14085	CCDS6535.1	9p13	2013-02-19			ENSG00000086062	ENSG00000086062	2.4.1.22	"""Beta 4-glycosyltransferases"""	924	protein-coding gene	gene with protein product		137060		GGTB2		9597550	Standard	NM_001497		Approved	beta4Gal-T1	uc003zsg.2	P15291	OTTHUMG00000019764	ENST00000379731.4:c.492C>T	9.37:g.33135343G>A						B4GALT1_ENST00000535206.1_Silent_p.G164G	p.G164G	NM_001497.3	NP_001488.2	P15291	B4GT1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0084)	GBM - Glioblastoma multiforme(74;0.121)	2	678	-			164					B2R710|D3DRL2|Q12909|Q12910|Q12911|Q14456|Q14509|Q14523	Silent	SNP	ENST00000379731.4	37	c.492C>T	CCDS6535.1																																																																																				0.557	B4GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052039.1	NM_001497		12	32	0	0	0	1	0	12	32				
KCNK10	54207	broad.mit.edu	37	14	88652226	88652226	+	Missense_Mutation	SNP	G	G	A	rs373732858		TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr14:88652226G>A	ENST00000340700.5	-	7	1721	c.1270C>T	c.(1270-1272)Cgc>Tgc	p.R424C	KCNK10_ENST00000319231.5_Missense_Mutation_p.R429C|KCNK10_ENST00000312350.5_Missense_Mutation_p.R429C	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	424					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						CCCTTCAGGCGCAGGTTGTTG	0.607																																						ENST00000340700.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						c.(1270-1272)Cgc>Tgc		potassium channel, subfamily K, member 10		G	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	66.0	69.0	68.0		1270,1285,1285	5.7	1.0	14		68	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	KCNK10	NM_021161.4,NM_138317.2,NM_138318.2	180,180,180	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging	424/539,429/544,429/544	88652226	2,13004	2203	4300	6503	SO:0001583	missense	54207				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:88652226G>A	AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6273	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 97"""	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.1270C>T	14.37:g.88652226G>A	ENSP00000343104:p.Arg424Cys					KCNK10_ENST00000312350.5_Missense_Mutation_p.R429C|KCNK10_ENST00000319231.5_Missense_Mutation_p.R429C	p.R424C	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN			7	1721	-			424					B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP	ENST00000340700.5	37	c.1270C>T	CCDS9880.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.106321	0.56291	0.0	2.33E-4	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231	D;D;D	0.92965	-3.13;-3.13;-3.14	5.71	5.71	0.89125	.	0.225317	0.42294	D	0.000726	D	0.92443	0.7601	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	P;P;P	0.60609	0.828;0.818;0.877	D	0.91415	0.5154	10	0.39692	T	0.17	.	13.7785	0.63069	0.0:0.0:0.8468:0.1532	.	424;429;429	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	C	424;429;429	ENSP00000343104:R424C;ENSP00000310568:R429C;ENSP00000312811:R429C	ENSP00000310568:R429C	R	-	1	0	KCNK10	87721979	1.000000	0.71417	1.000000	0.80357	0.486000	0.33341	5.823000	0.69272	2.709000	0.92574	0.655000	0.94253	CGC		0.607	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161		19	39	0	0	0	1	0	19	39				
F7	2155	broad.mit.edu	37	13	113770051	113770051	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr13:113770051C>T	ENST00000375581.3	+	6	543	c.508C>T	c.(508-510)Cgc>Tgc	p.R170C	F7_ENST00000346342.3_Missense_Mutation_p.R148C|F7_ENST00000541084.1_Missense_Mutation_p.R101C	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	170	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|cellular protein metabolic process (GO:0044267)|circadian rhythm (GO:0007623)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell migration (GO:0030335)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of platelet-derived growth factor receptor signaling pathway (GO:0010641)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to growth hormone (GO:0060416)|response to vitamin K (GO:0032571)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	GGGCACCAAGCGCTCCTGTCG	0.617																																						ENST00000375581.3																			0				large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	GRCh37	CM004521	F7	M		c.(508-510)Cgc>Tgc		coagulation factor VII (serum prothrombin conversion accelerator)	Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)						65.0	54.0	58.0					13																	113770051		2203	4300	6503	SO:0001583	missense	2155				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity	g.chr13:113770051C>T		CCDS9528.1, CCDS9529.1, CCDS73602.1	13q34	2014-02-03			ENSG00000057593	ENSG00000057593	3.4.21.21		3544	protein-coding gene	gene with protein product	"""eptacog alfa"", ""FVII coagulation protein"", ""factor VII"""	613878				3264725, 2511201	Standard	NM_000131		Approved		uc001vsv.4	P08709	OTTHUMG00000017373	ENST00000375581.3:c.508C>T	13.37:g.113770051C>T	ENSP00000364731:p.Arg170Cys					F7_ENST00000346342.3_Missense_Mutation_p.R148C|F7_ENST00000541084.1_Missense_Mutation_p.R101C	p.R170C	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		6	543	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	170			EGF-like 2.		B0YJC8|Q14339|Q5JVF1|Q5JVF2|Q9UD52|Q9UD53|Q9UD54	Missense_Mutation	SNP	ENST00000375581.3	37	c.508C>T	CCDS9528.1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.318682	0.23994	.	.	ENSG00000057593	ENST00000346342;ENST00000541084;ENST00000375581	D;D;D	0.92199	-2.99;-2.85;-2.99	4.3	3.46	0.39613	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.96522	0.8865	H	0.95114	3.625	0.28189	N	0.927829	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.71414	0.961;0.911;0.973;0.941	D	0.91530	0.5241	10	0.37606	T	0.19	.	10.488	0.44733	0.0:0.9096:0.0:0.0904	.	101;101;148;170	F5H8B0;B4DPM2;P08709-2;P08709	.;.;.;FA7_HUMAN	C	148;101;170	ENSP00000329546:R148C;ENSP00000442051:R101C;ENSP00000364731:R170C	ENSP00000329546:R148C	R	+	1	0	F7	112818052	0.728000	0.28080	0.833000	0.33012	0.021000	0.10359	1.287000	0.33284	1.017000	0.39495	-0.251000	0.11542	CGC		0.617	F7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045838.4	NM_000131		8	27	0	0	0	1	0	8	27				
CACNG3	10368	broad.mit.edu	37	16	24373167	24373167	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr16:24373167C>T	ENST00000005284.3	+	4	2133	c.931C>T	c.(931-933)Cgc>Tgc	p.R311C		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	311					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.R311C(1)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		GGCCAACAGGCGCACCACGCC	0.562																																						ENST00000005284.3																			1	Substitution - Missense(1)	p.R311C(1)	prostate(1)	NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40						c.(931-933)Cgc>Tgc		calcium channel, voltage-dependent, gamma subunit 3							47.0	48.0	48.0					16																	24373167		2197	4300	6497	SO:0001583	missense	10368				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr16:24373167C>T	AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"""Calcium channel subunits"""	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.931C>T	16.37:g.24373167C>T	ENSP00000005284:p.Arg311Cys						p.R311C	NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN		GBM - Glioblastoma multiforme(48;0.0809)	4	2133	+			311						Missense_Mutation	SNP	ENST00000005284.3	37	c.931C>T	CCDS10620.1	.	.	.	.	.	.	.	.	.	.	c	20.5	3.999709	0.74818	.	.	ENSG00000006116	ENST00000005284	T	0.65178	-0.14	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.79604	0.4474	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82643	-0.0356	10	0.87932	D	0	-12.9989	17.8078	0.88607	0.0:1.0:0.0:0.0	.	311	O60359	CCG3_HUMAN	C	311	ENSP00000005284:R311C	ENSP00000005284:R311C	R	+	1	0	CACNG3	24280668	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.609000	0.61148	2.266000	0.75297	0.645000	0.84053	CGC		0.562	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	NM_006539		13	41	0	0	0	1	0	13	41				
CBLN4	140689	broad.mit.edu	37	20	54579018	54579018	+	Silent	SNP	C	C	T			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr20:54579018C>T	ENST00000064571.2	-	1	1510	c.210G>A	c.(208-210)aaG>aaA	p.K70K		NM_080617.5	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	70	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein secretion (GO:0009306)	cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			AGAAGGCGACCTTGGAGTTGG	0.637																																						ENST00000064571.2																			0				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17						c.(208-210)aaG>aaA		cerebellin 4 precursor							111.0	116.0	114.0					20																	54579018		2203	4300	6503	SO:0001819	synonymous_variant	140689					cell junction|extracellular region|synapse		g.chr20:54579018C>T	AY358527	CCDS13448.1	20q13	2004-08-19	2004-08-19	2004-08-19	ENSG00000054803	ENSG00000054803			16231	protein-coding gene	gene with protein product		615029	"""cerebellin precursor-like 1"""	CBLNL1			Standard	NM_080617		Approved	dJ885A10.1	uc002xxa.4	Q9NTU7	OTTHUMG00000032782	ENST00000064571.2:c.210G>A	20.37:g.54579018C>T							p.K70K	NM_080617.4	NP_542184.1	Q9NTU7	CBLN4_HUMAN	Colorectal(105;0.202)		1	1510	-			70			C1q.		A8K0S5	Silent	SNP	ENST00000064571.2	37	c.210G>A	CCDS13448.1																																																																																				0.637	CBLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079783.2	NM_080617		36	104	0	0	0	1	0	36	104				
SCAPER	49855	broad.mit.edu	37	15	77064287	77064287	+	Silent	SNP	C	C	T			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr15:77064287C>T	ENST00000563290.1	-	10	1139	c.1044G>A	c.(1042-1044)gtG>gtA	p.V348V	SCAPER_ENST00000324767.7_Silent_p.V348V|SCAPER_ENST00000562890.1_5'Flank|SCAPER_ENST00000538941.2_Silent_p.V102V			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	348						endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						CCAATGTACTCACTGTGAACT	0.338																																						ENST00000538941.2																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						c.(304-306)gtG>gtA		S-phase cyclin A-associated protein in the ER							91.0	86.0	88.0					15																	77064287		1847	4097	5944	SO:0001819	synonymous_variant	49855					endoplasmic reticulum|nucleus	zinc ion binding	g.chr15:77064287C>T	AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"""Zinc fingers, C2H2-type"""	13081	protein-coding gene	gene with protein product		611611	"""zinc finger protein 291"""	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.1044G>A	15.37:g.77064287C>T						SCAPER_ENST00000324767.7_Silent_p.V348V|SCAPER_ENST00000563290.1_Silent_p.V348V	p.V102V	NM_001145923.1	NP_001139395.1	Q9BY12	SCAPE_HUMAN			10	1245	-			347					F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Silent	SNP	ENST00000563290.1	37	c.306G>A	CCDS53962.1																																																																																				0.338	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1	NM_020843		7	28	0	0	0	1	0	7	28				
LEP	3952	broad.mit.edu	37	7	127892092	127892092	+	Silent	SNP	C	C	T	rs201523305		TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr7:127892092C>T	ENST00000308868.4	+	2	72	c.21C>T	c.(19-21)tgC>tgT	p.C7C		NM_000230.2	NP_000221.1	P41159	LEP_HUMAN	leptin	7					adipose tissue development (GO:0060612)|adult feeding behavior (GO:0008343)|bile acid metabolic process (GO:0008206)|bone mineralization involved in bone maturation (GO:0035630)|cellular response to L-ascorbic acid (GO:0071298)|cellular response to retinoic acid (GO:0071300)|central nervous system neuron development (GO:0021954)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|eating behavior (GO:0042755)|energy reserve metabolic process (GO:0006112)|fatty acid beta-oxidation (GO:0006635)|female pregnancy (GO:0007565)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process (GO:0006114)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|leptin-mediated signaling pathway (GO:0033210)|leukocyte tethering or rolling (GO:0050901)|negative regulation of apoptotic process (GO:0043066)|negative regulation of appetite (GO:0032099)|negative regulation of cartilage development (GO:0061037)|negative regulation of glucagon secretion (GO:0070093)|negative regulation of glutamine transport (GO:2000486)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vasoconstriction (GO:0045906)|ovulation from ovarian follicle (GO:0001542)|placenta development (GO:0001890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of developmental growth (GO:0048639)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of ion transport (GO:0043270)|positive regulation of luteinizing hormone secretion (GO:0033686)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of blood pressure (GO:0008217)|regulation of fat cell differentiation (GO:0045598)|regulation of gluconeogenesis (GO:0006111)|regulation of insulin secretion (GO:0050796)|regulation of intestinal cholesterol absorption (GO:0030300)|regulation of lipoprotein lipid oxidation (GO:0060587)|regulation of steroid biosynthetic process (GO:0050810)|response to dietary excess (GO:0002021)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to vitamin E (GO:0033197)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)				endometrium(1)|large_intestine(2)|lung(5)	8						GAACCCTGTGCGGATTCTTGT	0.488																																						ENST00000308868.4																			0				endometrium(1)|large_intestine(2)|lung(5)	8						c.(19-21)tgC>tgT		leptin		C		0,4406		0,0,2203	258.0	225.0	236.0		21	-0.0	0.0	7		236	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LEP	NM_000230.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		7/168	127892092	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3952				adult feeding behavior|energy reserve metabolic process|negative regulation of appetite|placenta development|positive regulation of developmental growth	extracellular space		g.chr7:127892092C>T		CCDS5800.1	7q31	2008-03-06	2008-03-06		ENSG00000174697	ENSG00000174697			6553	protein-coding gene	gene with protein product		164160	"""leptin (murine obesity homolog)"", ""leptin (obesity homolog, mouse)"""	OBS, OB		1686014, 16932309	Standard	NM_000230		Approved		uc003vml.2	P41159	OTTHUMG00000157564	ENST00000308868.4:c.21C>T	7.37:g.127892092C>T							p.C7C	NM_000230.2	NP_000221.1	P41159	LEP_HUMAN			2	72	+			7					O15158|Q56A88	Silent	SNP	ENST00000308868.4	37	c.21C>T	CCDS5800.1																																																																																				0.488	LEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349174.1			19	87	0	0	0	1	0	19	87				
RXRG	6258	broad.mit.edu	37	1	165389159	165389159	+	Silent	SNP	G	G	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr1:165389159G>A	ENST00000359842.5	-	3	692	c.390C>T	c.(388-390)agC>agT	p.S130S	RXRG_ENST00000470566.1_5'UTR	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	130	Modulating. {ECO:0000250}.				gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	GAGATCCGGGGCTGGTGGATG	0.522																																						ENST00000359842.5																			0				endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38						c.(388-390)agC>agT		retinoid X receptor, gamma	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)						143.0	134.0	137.0					1																	165389159		2203	4300	6503	SO:0001819	synonymous_variant	6258				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr1:165389159G>A	U38480	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			ENSG00000143171	ENSG00000143171		"""Nuclear hormone receptors"""	10479	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 3"""	180247				8034312	Standard	NR_033824		Approved	NR2B3	uc001gda.3	P48443	OTTHUMG00000034626	ENST00000359842.5:c.390C>T	1.37:g.165389159G>A						RXRG_ENST00000470566.1_5'UTR	p.S130S	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN			3	692	-	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		130			Modulating (By similarity).		A6NIP1|Q6IBU7	Silent	SNP	ENST00000359842.5	37	c.390C>T	CCDS1248.1																																																																																				0.522	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083794.2	NM_006917		12	37	0	0	0	1	0	12	37				
ADCY7	113	broad.mit.edu	37	16	50325794	50325794	+	Missense_Mutation	SNP	C	C	T	rs199712113		TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr16:50325794C>T	ENST00000394697.2	+	4	863	c.523C>T	c.(523-525)Cgg>Tgg	p.R175W	ADCY7_ENST00000566433.2_Missense_Mutation_p.R175W|ADCY7_ENST00000537579.1_Missense_Mutation_p.R175W|ADCY7_ENST00000538642.1_Missense_Mutation_p.R175W|ADCY7_ENST00000254235.3_Missense_Mutation_p.R175W|ADCY7_ENST00000564044.1_Intron			P51828	ADCY7_HUMAN	adenylate cyclase 7	175					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to ethanol (GO:0071361)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		ACCCAGTGTCCGGGTGGGGCT	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		17373	0.0		0.001	False		,,,				2504	0.0					ENST00000394697.2																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35						c.(523-525)Cgg>Tgg		adenylate cyclase 7	Bromocriptine(DB01200)	C	TRP/ARG	0,4396		0,0,2198	52.0	51.0	51.0		523	0.1	0.0	16		51	3,8597	2.2+/-6.3	0,3,4297	no	missense	ADCY7	NM_001114.3	101	0,3,6495	TT,TC,CC		0.0349,0.0,0.0231	benign	175/1081	50325794	3,12993	2198	4300	6498	SO:0001583	missense	113				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:50325794C>T	D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"""Adenylate cyclases"""	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.523C>T	16.37:g.50325794C>T	ENSP00000378187:p.Arg175Trp					ADCY7_ENST00000537579.1_Missense_Mutation_p.R175W|ADCY7_ENST00000254235.3_Missense_Mutation_p.R175W|ADCY7_ENST00000564044.1_Intron|ADCY7_ENST00000566433.2_Missense_Mutation_p.R175W|ADCY7_ENST00000538642.1_Missense_Mutation_p.R175W	p.R175W			P51828	ADCY7_HUMAN		GBM - Glioblastoma multiforme(240;0.195)	4	863	+		all_cancers(37;0.0127)	175					A0AVA6	Missense_Mutation	SNP	ENST00000394697.2	37	c.523C>T	CCDS10741.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	8.221	0.802474	0.16397	0.0	3.49E-4	ENSG00000121281	ENST00000538642;ENST00000394697;ENST00000537579;ENST00000254235	T;D;T;D	0.82081	-1.07;-1.57;-1.1;-1.57	3.24	0.0766	0.14404	.	2.312940	0.03243	U	0.180657	T	0.64832	0.2634	N	0.14661	0.345	0.09310	N	1	P;D	0.53151	0.84;0.958	B;B	0.38683	0.065;0.279	T	0.60850	-0.7181	10	0.37606	T	0.19	.	0.6173	0.00771	0.1975:0.3734:0.1934:0.2357	.	175;175	P51828;F5H4D1	ADCY7_HUMAN;.	W	175	ENSP00000445046:R175W;ENSP00000378187:R175W;ENSP00000437788:R175W;ENSP00000254235:R175W	ENSP00000254235:R175W	R	+	1	2	ADCY7	48883295	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-2.497000	0.00969	0.049000	0.15920	0.561000	0.74099	CGG		0.652	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3			12	32	0	0	0	1	0	12	32				
CBFA2T3	863	broad.mit.edu	37	16	88967963	88967963	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr16:88967963G>A	ENST00000268679.4	-	2	649	c.253C>T	c.(253-255)Cct>Tct	p.P85S	CBFA2T3_ENST00000448839.1_Intron|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.P85S|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.P24S|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.P24S	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	85	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus. {ECO:0000250}.|Pro-rich.|Required for nucleolar targeting (in isoform 1).				cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		GATGCGGCAGGCGGTGGGGGC	0.701			T	RUNX1	AML																																	ENST00000268679.4				Dom	yes		16	16q24	863	T	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (MTG-16)"""			L	RUNX1		AML		0				endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(253-255)Cct>Tct		core-binding factor, runt domain, alpha subunit 2; translocated to, 3							17.0	22.0	20.0					16																	88967963		2183	4282	6465	SO:0001583	missense	863				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:88967963G>A	AF052213	CCDS10972.1, CCDS10973.1	16q24	2013-10-16			ENSG00000129993	ENSG00000129993		"""Zinc fingers, MYND-type"", ""A-kinase anchor proteins"""	1537	protein-coding gene	gene with protein product	"""myeloid translocation gene 8 and 16b"""	603870				9790752, 20150326	Standard	NM_005187		Approved	MTGR2, ZMYND4, MTG16	uc002fmm.2	O75081	OTTHUMG00000137864	ENST00000268679.4:c.253C>T	16.37:g.88967963G>A	ENSP00000268679:p.Pro85Ser					CBFA2T3_ENST00000360302.2_Missense_Mutation_p.P24S|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.P24S|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.P85S|CBFA2T3_ENST00000448839.1_Intron	p.P85S	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0275)	2	649	-			85			Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).|Pro-rich.|Required for nucleolar targeting (in isoform 1).		D3DX78|O60615|O60616|O60617|O75082|O75107|O75108|Q0P5Z6|Q6P5W6	Missense_Mutation	SNP	ENST00000268679.4	37	c.253C>T	CCDS10972.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.053770	0.36277	.	.	ENSG00000129993	ENST00000327483;ENST00000268679;ENST00000436887;ENST00000360302	T;T;T;T	0.52754	1.4;0.87;0.65;1.4	3.95	3.95	0.45737	.	0.122511	0.56097	N	0.000031	T	0.61961	0.2389	L	0.46157	1.445	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.998;0.998;0.999	T	0.65623	-0.6123	10	0.56958	D	0.05	-12.4356	15.9452	0.79787	0.0:0.0:1.0:0.0	.	85;85;85;24	E7EU24;B2RBQ7;O75081;O75081-2	.;.;MTG16_HUMAN;.	S	24;85;85;24	ENSP00000332122:P24S;ENSP00000268679:P85S;ENSP00000395739:P85S;ENSP00000353449:P24S	ENSP00000268679:P85S	P	-	1	0	CBFA2T3	87495464	1.000000	0.71417	0.024000	0.17045	0.106000	0.19336	7.572000	0.82409	1.918000	0.55548	0.491000	0.48974	CCT		0.701	CBFA2T3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269545.2	NM_005187		16	35	0	0	0	1	0	16	35				
CALN1	83698	broad.mit.edu	37	7	71571179	71571179	+	Silent	SNP	G	G	A	rs139754746		TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr7:71571179G>A	ENST00000329008.5	-	3	517	c.219C>T	c.(217-219)agC>agT	p.S73S	CALN1_ENST00000431984.1_Silent_p.S73S|CALN1_ENST00000412588.1_Silent_p.S115S|CALN1_ENST00000395276.2_Silent_p.S73S|CALN1_ENST00000405452.2_Silent_p.S73S|CALN1_ENST00000395275.2_Silent_p.S115S	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	73	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				GCTCCACCTCGCTTGGCATGT	0.592													G|||	1	0.000199681	0.0	0.0014	5008	,	,		13808	0.0		0.0	False		,,,				2504	0.0					ENST00000395275.2																			0				biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32						c.(343-345)agC>agT		calneuron 1		G	,	0,4406		0,0,2203	77.0	59.0	65.0		219,345	-6.3	0.1	7	dbSNP_134	65	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	CALN1	NM_001017440.2,NM_031468.3	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	73/220,115/262	71571179	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	83698					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	g.chr7:71571179G>A	AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"""EF-hand domain containing"""	13248	protein-coding gene	gene with protein product	"""calcium-binding protein CABP8"""	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000329008.5:c.219C>T	7.37:g.71571179G>A						CALN1_ENST00000329008.5_Silent_p.S73S|CALN1_ENST00000431984.1_Silent_p.S73S|CALN1_ENST00000395276.2_Silent_p.S73S|CALN1_ENST00000412588.1_Silent_p.S115S|CALN1_ENST00000405452.2_Silent_p.S73S	p.S115S	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN			4	733	-		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)	73					J3KQA7	Silent	SNP	ENST00000329008.5	37	c.345C>T	CCDS5541.1																																																																																				0.592	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320044.2	NM_031468		10	33	0	0	0	1	0	10	33				
PRICKLE4	29964	broad.mit.edu	37	6	41753227	41753227	+	Silent	SNP	C	C	T			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr6:41753227C>T	ENST00000394260.1	+	3	411	c.411C>T	c.(409-411)tgC>tgT	p.C137C	PRICKLE4_ENST00000394259.1_Silent_p.C137C|TOMM6_ENST00000398884.3_5'Flank|TOMM6_ENST00000398881.3_5'Flank|PRICKLE4_ENST00000394263.1_Silent_p.C177C|PRICKLE4_ENST00000359201.5_Silent_p.C177C|PRICKLE4_ENST00000458694.1_Silent_p.C177C			Q2TBC4	PRIC4_HUMAN	prickle homolog 4 (Drosophila)	137	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.					nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AACTCTACTGCGGCCGTCATC	0.622																																						ENST00000359201.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13						c.(529-531)tgC>tgT		prickle homolog 4 (Drosophila)							46.0	48.0	47.0					6																	41753227		2203	4300	6503	SO:0001819	synonymous_variant	29964					nucleus	zinc ion binding	g.chr6:41753227C>T	AF216754	CCDS34449.1	6p21.1	2010-08-05	2007-09-18	2007-09-18	ENSG00000124593	ENSG00000124593			16805	protein-coding gene	gene with protein product		611389	"""chromosome 6 open reading frame 49"""	C6orf49		15702247	Standard	NM_013397		Approved	OEBT, DKFZp761H221	uc011duf.1	Q2TBC4	OTTHUMG00000014685	ENST00000394260.1:c.411C>T	6.37:g.41753227C>T						PRICKLE4_ENST00000458694.1_Silent_p.C177C|PRICKLE4_ENST00000394259.1_Silent_p.C137C|PRICKLE4_ENST00000394260.1_Silent_p.C137C|PRICKLE4_ENST00000394263.1_Silent_p.C177C	p.C177C			Q2TBC4	PRIC4_HUMAN	Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		5	1120	+	Ovarian(28;0.0355)|Colorectal(47;0.121)		137			LIM zinc-binding 2.		A2A3M0|A6PVU1|B3KQ15|Q5T3D4|Q9NSV1	Silent	SNP	ENST00000394260.1	37	c.531C>T																																																																																					0.622	PRICKLE4-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000303948.1	NM_013397		18	46	0	0	0	1	0	18	46				
H3F3A	3020	broad.mit.edu	37	1	226252059	226252059	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr1:226252059C>T	ENST00000366813.1	+	1	382	c.7C>T	c.(7-9)Cgt>Tgt	p.R3C	RP11-396C23.4_ENST00000609423.1_RNA|H3F3A_ENST00000366814.3_Missense_Mutation_p.R3C|H3F3A_ENST00000366816.1_Missense_Mutation_p.R3C|H3F3A_ENST00000366815.3_Missense_Mutation_p.R3C			P84243	H33_HUMAN	H3 histone, family 3A	3					blood coagulation (GO:0007596)|brain development (GO:0007420)|DNA replication-independent nucleosome assembly (GO:0006336)|positive regulation of cell growth (GO:0030307)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nuclear nucleosome (GO:0000788)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	nucleosomal DNA binding (GO:0031492)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)	p.R3C(1)		central_nervous_system(116)|endometrium(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	123	Breast(184;0.179)			GBM - Glioblastoma multiforme(131;0.203)		TACCATGGCTCGTACAAAGCA	0.498			Mis		glioma						OREG0014293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000366814.3				Dom	yes		1	1q42.12	3020	Mis	"""H3 histone, family 3A"""			O			glioma		1	Substitution - Missense(1)	p.R3C(1)	upper_aerodigestive_tract(1)	central_nervous_system(116)|endometrium(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	123						c.(7-9)Cgt>Tgt		H3 histone, family 3A							31.0	33.0	32.0					1																	226252059		2202	4300	6502	SO:0001583	missense	3020							g.chr1:226252059C>T	BC029405	CCDS1550.1	1q42.12	2011-01-27			ENSG00000163041	ENSG00000163041		"""Histones / Replication-independent"""	4764	protein-coding gene	gene with protein product		601128		H3F3		3031613	Standard	NM_002107		Approved	H3.3A	uc001hpw.3	P84243	OTTHUMG00000037507	ENST00000366813.1:c.7C>T	1.37:g.226252059C>T	ENSP00000355778:p.Arg3Cys		OREG0014293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2311	H3F3A_ENST00000366816.1_Missense_Mutation_p.R3C|H3F3A_ENST00000366815.3_Missense_Mutation_p.R3C|H3F3A_ENST00000366813.1_Missense_Mutation_p.R3C	p.R3C						GBM - Glioblastoma multiforme(131;0.203)	2	128	+	Breast(184;0.179)							P06351|P33155|Q5VV55|Q5VV56|Q66I33|Q9V3W4	Missense_Mutation	SNP	ENST00000366813.1	37	c.7C>T	CCDS1550.1	.	.	.	.	.	.	.	.	.	.	C	10.39	1.335723	0.24253	.	.	ENSG00000163041	ENST00000366816;ENST00000366815;ENST00000366814;ENST00000366813	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	4.32	4.32	0.51571	Histone-fold (2);	0.000000	0.85682	D	0.000000	T	0.69459	0.3113	.	.	.	0.80722	D	1	D;B	0.89917	1.0;0.001	D;B	0.79784	0.993;0.001	T	0.75382	-0.3337	9	0.72032	D	0.01	.	16.7598	0.85509	0.0:1.0:0.0:0.0	.	3;3	B4DEB1;P84243	.;H33_HUMAN	C	3	ENSP00000355781:R3C;ENSP00000355780:R3C;ENSP00000355779:R3C;ENSP00000355778:R3C	ENSP00000355778:R3C	R	+	1	0	H3F3A	224318682	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.535000	0.60629	2.106000	0.64143	0.655000	0.94253	CGT		0.498	H3F3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091324.1	NM_002107		12	18	0	0	0	1	0	12	18				
EGFR	1956	broad.mit.edu	37	7	55211080	55211080	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr7:55211080G>A	ENST00000275493.2	+	3	500	c.323G>A	c.(322-324)aGa>aAa	p.R108K	EGFR_ENST00000342916.3_Missense_Mutation_p.R108K|EGFR_ENST00000420316.2_Missense_Mutation_p.R108K|EGFR_ENST00000454757.2_Missense_Mutation_p.R55K|EGFR_ENST00000442591.1_Missense_Mutation_p.R108K|EGFR_ENST00000455089.1_Missense_Mutation_p.R108K|EGFR_ENST00000344576.2_Missense_Mutation_p.R108K	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	108			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.R108K(6)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CAGATCATCAGAGGAAATATG	0.423		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		6	Substitution - Missense(6)	p.R108K(6)	central_nervous_system(6)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(322-324)aGa>aAa		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						118.0	119.0	119.0					7																	55211080		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55211080G>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.323G>A	7.37:g.55211080G>A	ENSP00000275493:p.Arg108Lys	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000454757.2_Missense_Mutation_p.R55K|EGFR_ENST00000420316.2_Missense_Mutation_p.R108K|EGFR_ENST00000455089.1_Missense_Mutation_p.R108K|EGFR_ENST00000342916.3_Missense_Mutation_p.R108K|EGFR_ENST00000344576.2_Missense_Mutation_p.R108K|EGFR_ENST00000442591.1_Missense_Mutation_p.R108K	p.R108K	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		3	500	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		108					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.323G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	35	5.513495	0.96402	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000450046;ENST00000454757	T;T;T;T;T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44;-1.44;-1.44;-1.44;-1.44	5.31	5.31	0.75309	EGF receptor, L domain (1);	0.000000	0.85682	D	0.000000	D	0.91422	0.7293	M	0.88570	2.965	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;0.99	D	0.92718	0.6189	10	0.87932	D	0	.	17.9014	0.88905	0.0:0.0:1.0:0.0	.	108;108;108;108;108	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	K	108;108;108;108;108;108;55;55	ENSP00000415559:R108K;ENSP00000342376:R108K;ENSP00000345973:R108K;ENSP00000413843:R108K;ENSP00000275493:R108K;ENSP00000410031:R108K;ENSP00000413354:R55K;ENSP00000395243:R55K	ENSP00000275493:R108K	R	+	2	0	EGFR	55178574	1.000000	0.71417	0.772000	0.31596	0.940000	0.58332	9.785000	0.99042	2.656000	0.90262	0.655000	0.94253	AGA		0.423	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		692	44	0	0	0	1	0	692	44				
IGLV11-55	28770	broad.mit.edu	37	22	22556480	22556480	+	RNA	SNP	G	G	A	rs377766348		TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr22:22556480G>A	ENST00000390286.2	+	0	306									immunoglobulin lambda variable 11-55 (non-functional)																		GTAACACAGCGTTTTTGCTCA	0.527																																						ENST00000390286.2																			0															G		0,3882		0,0,1941	79.0	80.0	80.0			-4.4	0.0	22		80	1,8283		0,1,4141	no	intergenic				0,1,6082	AA,AG,GG		0.0121,0.0,0.0082			22556480	1,12165	1941	4142	6083			0							g.chr22:22556480G>A	D86996		22q11.2	2012-02-08	2008-09-15		ENSG00000211641	ENSG00000211641		"""Immunoglobulins / IGL locus"""	5886	other	immunoglobulin gene			"""immunoglobulin lambda variable 11-55"""				Standard	NG_000002		Approved				OTTHUMG00000150995		22.37:g.22556480G>A														0	306	+									RNA	SNP	ENST00000390286.2	37																																																																																						0.527	IGLV11-55-001	KNOWN	basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000320860.3	NG_000002		16	41	0	0	0	1	0	16	41				
CDCA7L	55536	broad.mit.edu	37	7	21956473	21956473	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr7:21956473C>T	ENST00000406877.3	-	2	343	c.64G>A	c.(64-66)Gat>Aat	p.D22N	CDCA7L_ENST00000356195.5_5'UTR|CDCA7L_ENST00000465490.1_5'UTR|CDCA7L_ENST00000373934.4_Missense_Mutation_p.D22N	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	22					positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						TCTTCATCATCACTGGGGGCG	0.463																																						ENST00000406877.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						c.(64-66)Gat>Aat		cell division cycle associated 7-like							180.0	179.0	179.0					7																	21956473		2203	4300	6503	SO:0001583	missense	55536				positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus		g.chr7:21956473C>T		CCDS5374.1, CCDS47558.1, CCDS47559.1	7p15.3	2007-04-27			ENSG00000164649	ENSG00000164649			30777	protein-coding gene	gene with protein product		609685				16829576	Standard	NM_018719		Approved	RAM2, R1, JPO2	uc010kuk.3	Q96GN5	OTTHUMG00000128429	ENST00000406877.3:c.64G>A	7.37:g.21956473C>T	ENSP00000383986:p.Asp22Asn					CDCA7L_ENST00000373934.4_Missense_Mutation_p.D22N|CDCA7L_ENST00000465490.1_5'UTR|CDCA7L_ENST00000356195.5_5'UTR	p.D22N	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN			2	343	-			22					A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2	Missense_Mutation	SNP	ENST00000406877.3	37	c.64G>A	CCDS5374.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.633478	0.87660	.	.	ENSG00000164649	ENST00000406877;ENST00000373934	T;T	0.52754	0.67;0.65	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000016	T	0.66674	0.2813	L	0.56769	1.78	0.40950	D	0.98453	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.996;0.996;0.996;0.998	T	0.69621	-0.5096	10	0.87932	D	0	0.2358	17.5621	0.87910	0.0:1.0:0.0:0.0	.	22;22;22;22	A8K8X5;C9K0Y1;Q96GN5;Q96GN5-2	.;.;CDA7L_HUMAN;.	N	22	ENSP00000383986:D22N;ENSP00000363045:D22N	ENSP00000363045:D22N	D	-	1	0	CDCA7L	21922998	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.310000	0.65780	2.583000	0.87209	0.555000	0.69702	GAT		0.463	CDCA7L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250218.4	NM_018719		30	130	0	0	0	1	0	30	130				
PCDH11X	27328	broad.mit.edu	37	X	91133712	91133712	+	Missense_Mutation	SNP	G	G	A	rs377250651		TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chrX:91133712G>A	ENST00000373094.1	+	2	3318	c.2473G>A	c.(2473-2475)Gtt>Att	p.V825I	PCDH11X_ENST00000504220.2_Missense_Mutation_p.V825I|PCDH11X_ENST00000373097.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000361724.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000361655.2_Missense_Mutation_p.V825I|PCDH11X_ENST00000395337.2_Missense_Mutation_p.V825I|PCDH11X_ENST00000373088.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000406881.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000298274.8_Missense_Mutation_p.V825I	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	825					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CATAACTGTCGTTGTAGTTAT	0.463																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(2473-2475)Gtt>Att		protocadherin 11 X-linked		G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	1,3834		0,1,1631,571	52.0	45.0	48.0		2473,2473,2473,2473,2473,2473,2473,2473	-0.9	0.0	X		48	0,6719		0,0,2425,1869	no	missense,missense,missense,missense,missense,missense,missense,missense	PCDH11X	NM_032969.3,NM_032968.3,NM_032967.2,NM_014522.1,NM_001168363.1,NM_001168362.1,NM_001168361.1,NM_001168360.1	29,29,29,29,29,29,29,29	0,1,4056,2440	AA,AG,GG,G		0.0,0.0261,0.0095	benign,benign,benign,benign,benign,benign,benign,benign	825/1338,825/1348,825/1026,825/1022,825/1330,825/1311,825/1066,825/1340	91133712	1,10553	2203	4294	6497	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91133712G>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.2473G>A	X.37:g.91133712G>A	ENSP00000362186:p.Val825Ile					PCDH11X_ENST00000406881.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000361724.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000373088.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000298274.8_Missense_Mutation_p.V825I|PCDH11X_ENST00000504220.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000373097.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000395337.2_Missense_Mutation_p.V825I|PCDH11X_ENST00000361655.2_Missense_Mutation_p.V825I	p.V825I	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			2	3318	+			825					A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.2473G>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.097495	0.00034	2.61E-4	0.0	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7	5.15	-0.908	0.10517	Protocadherin (1);	0.222920	0.44097	N	0.000483	T	0.05090	0.0136	N	0.00583	-1.355	0.24408	N	0.994678	B;B;B;B;B;B;B;B	0.12013	0.004;0.004;0.004;0.004;0.004;0.005;0.004;0.002	B;B;B;B;B;B;B;B	0.11329	0.003;0.003;0.003;0.003;0.003;0.006;0.003;0.003	T	0.42982	-0.9419	10	0.02654	T	1	.	9.8467	0.41032	0.6433:0.0:0.3567:0.0	.	825;825;825;825;825;825;825;825	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	I	825	ENSP00000378746:V825I;ENSP00000362186:V825I;ENSP00000362189:V825I;ENSP00000355040:V825I;ENSP00000362180:V825I;ENSP00000423762:V825I;ENSP00000355105:V825I;ENSP00000384758:V825I;ENSP00000298274:V825I	ENSP00000298274:V825I	V	+	1	0	PCDH11X	91020368	0.848000	0.29623	0.031000	0.17742	0.033000	0.12548	1.274000	0.33132	-0.109000	0.12044	-0.365000	0.07479	GTT		0.463	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		21	13	0	0	0	1	0	21	13				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		4	19	0	0	0	1	0	4	19				
GSDMB	55876	broad.mit.edu	37	17	38073447	38073447	+	Silent	SNP	C	C	T			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr17:38073447C>T	ENST00000394179.1	-	2	253	c.123G>A	c.(121-123)ggG>ggA	p.G41G	GSDMB_ENST00000309481.7_Silent_p.G41G|GSDMB_ENST00000418519.1_Silent_p.G41G|GSDMB_ENST00000394175.2_Silent_p.G41G|GSDMB_ENST00000520542.1_Silent_p.G41G|GSDMB_ENST00000360317.3_Silent_p.G41G			Q8TAX9	GSDMB_HUMAN	gasdermin B	41						cytoplasm (GO:0005737)				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						TTCTCTTCTCCCCCACCAGAT	0.483																																						ENST00000394175.2																			0				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						c.(121-123)ggG>ggA		gasdermin B							204.0	184.0	191.0					17																	38073447		2203	4300	6503	SO:0001819	synonymous_variant	55876					cytoplasm		g.chr17:38073447C>T	AF119884	CCDS11354.1, CCDS42313.1, CCDS54119.1, CCDS54120.1	17q21.2	2008-07-31	2008-07-31	2008-07-31	ENSG00000073605	ENSG00000073605			23690	protein-coding gene	gene with protein product		611221	"""gasdermin-like"""	GSDML		12883658, 15010812, 17350798	Standard	NM_001042471		Approved	PRO2521	uc010cwj.3	Q8TAX9	OTTHUMG00000133248	ENST00000394179.1:c.123G>A	17.37:g.38073447C>T						GSDMB_ENST00000360317.3_Silent_p.G41G|GSDMB_ENST00000309481.7_Silent_p.G41G|GSDMB_ENST00000520542.1_Silent_p.G41G|GSDMB_ENST00000394179.1_Silent_p.G41G|GSDMB_ENST00000418519.1_Silent_p.G41G	p.G41G	NM_018530.2	NP_061000.2	Q8TAX9	GSDMB_HUMAN			1	346	-			41					B4DKK7|Q7Z377|Q8WY76|Q9NX71|Q9P163	Silent	SNP	ENST00000394179.1	37	c.123G>A																																																																																					0.483	GSDMB-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_018530		31	83	0	0	0	1	0	31	83				
ACADS	35	broad.mit.edu	37	12	121176335	121176335	+	Splice_Site	SNP	G	G	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr12:121176335G>A	ENST00000242592.4	+	7	946		c.e7-1		ACADS_ENST00000411593.2_Splice_Site|RP11-173P15.7_ENST00000542620.1_RNA	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain						butyrate catabolic process (GO:0046359)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|protein homotetramerization (GO:0051289)|response to glucocorticoid (GO:0051384)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|butyryl-CoA dehydrogenase activity (GO:0004085)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			Flavin adenine dinucleotide(DB03147)	GGTCCCCACAGCAAACCCTGG	0.682																																						ENST00000242592.4																			0				central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14						c.e7-1		acyl-CoA dehydrogenase, C-2 to C-3 short chain	NADH(DB00157)						29.0	33.0	32.0					12																	121176335		2203	4299	6502	SO:0001630	splice_region_variant	35					mitochondrial matrix	butyryl-CoA dehydrogenase activity	g.chr12:121176335G>A	M26393	CCDS9207.1	12q24.31	2012-07-13	2010-04-30		ENSG00000122971	ENSG00000122971	1.3.8.1		90	protein-coding gene	gene with protein product		606885	"""acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain"""			2565344	Standard	NM_000017		Approved	SCAD, ACAD3	uc001tza.4	P16219	OTTHUMG00000169203	ENST00000242592.4:c.796-1G>A	12.37:g.121176335G>A						ACADS_ENST00000411593.2_Splice_Site		NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN			7	946	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)						P78331	Splice_Site	SNP	ENST00000242592.4	37		CCDS9207.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.856189	0.91355	.	.	ENSG00000122971	ENST00000242592;ENST00000411593	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.206	0.89854	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ACADS	119660718	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.465000	0.97660	2.314000	0.78098	0.561000	0.74099	.		0.682	ACADS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402861.1	NM_000017	Intron	10	34	0	0	0	1	0	10	34				
IFITM1	8519	broad.mit.edu	37	11	314978	314978	+	Silent	SNP	C	C	T			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr11:314978C>T	ENST00000408968.3	+	2	561	c.243C>T	c.(241-243)acC>acT	p.T81T	IFITM1_ENST00000328221.5_Silent_p.T81T|IFITM1_ENST00000528780.1_Silent_p.T81T	NM_003641.3	NP_003632	P13164	IFM1_HUMAN	interferon induced transmembrane protein 1	81					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|ossification (GO:0001503)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of immune response (GO:0050776)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)			large_intestine(1)|lung(3)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		ATGCCTCCACCGCCAAGTGCC	0.572																																						ENST00000408968.3																			0				large_intestine(1)|lung(3)	4						c.(241-243)acC>acT		interferon induced transmembrane protein 1							86.0	85.0	86.0					11																	314978		1904	4108	6012	SO:0001819	synonymous_variant	8519				negative regulation of cell proliferation|regulation of immune response|response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding|receptor signaling protein activity	g.chr11:314978C>T	J04164	CCDS41584.1	11p15.5	2012-03-15	2012-03-13		ENSG00000185885	ENSG00000185885		"""CD molecules"""	5412	protein-coding gene	gene with protein product	"""interferon-induced transmembrane protein 1"""	604456	"""interferon induced transmembrane protein 1 (9-27)"""	IFI17		7559564	Standard	NM_003641		Approved	9-27, CD225	uc001loy.4	P13164		ENST00000408968.3:c.243C>T	11.37:g.314978C>T						IFITM1_ENST00000328221.5_Silent_p.T81T|IFITM1_ENST00000528780.1_Silent_p.T81T	p.T81T	NM_003641.3	NP_003632.3	P13164	IFM1_HUMAN		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)	2	561	+		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	81					Q15322|Q53XZ0	Silent	SNP	ENST00000408968.3	37	c.243C>T	CCDS41584.1	.	.	.	.	.	.	.	.	.	.	C	1.895	-0.454621	0.04540	.	.	ENSG00000185201;ENSG00000185885	ENST00000399815;ENST00000452428	.	.	.	3.65	-7.3	0.01446	.	.	.	.	.	T	0.34077	0.0885	.	.	.	0.24552	N	0.994017	.	.	.	.	.	.	T	0.50083	-0.8869	5	0.72032	D	0.01	.	6.3912	0.21587	0.1302:0.2529:0.0:0.6169	.	.	.	.	C	30;83	.	ENSP00000390466:R83C	R	+	1	0	IFITM1;IFITM2	304978	0.004000	0.15560	0.891000	0.34965	0.186000	0.23388	-2.766000	0.00782	-1.401000	0.02058	-1.088000	0.02184	CGC		0.572	IFITM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383595.1	NM_003641		16	51	0	0	0	1	0	16	51				
PTEN	5728	broad.mit.edu	37	10	89624228	89624228	+	Start_Codon_SNP	SNP	T	T	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr10:89624228T>A	ENST00000371953.3	+	1	1359	c.2T>A	c.(1-3)aTg>aAg	p.M1K	KLLN_ENST00000445946.3_5'Flank	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	1					activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(13)|p.M1fs*7(1)|p.M1fs*24(1)|p.M1T(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTCCCAGACATGACAGCCATC	0.507		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		53	Whole gene deletion(37)|Unknown(13)|Substitution - Missense(1)|Deletion - Frameshift(1)|Complex - frameshift(1)	p.0?(37)|p.?(13)|p.M1fs*7(1)|p.M1fs*24(1)|p.M1T(1)	prostate(14)|central_nervous_system(9)|skin(7)|lung(6)|haematopoietic_and_lymphoid_tissue(4)|ovary(3)|bone(2)|breast(2)|biliary_tract(1)|stomach(1)|soft_tissue(1)|large_intestine(1)|urinary_tract(1)|kidney(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(1-3)aTg>aAg		phosphatase and tensin homolog							142.0	141.0	141.0					10																	89624228		2203	4300	6503	SO:0001582	initiator_codon_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89624228T>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.2T>A	10.37:g.89624228T>A	ENSP00000361021:p.Met1Lys	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.M1K	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	1	1359	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	1					B2R904|F2YHV0|O00633|O02679|Q6ICT7	Translation_Start_Site	SNP	ENST00000371953.3	37	c.2T>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.403319	0.83230	.	.	ENSG00000171862	ENST00000371953	D	0.96651	-4.08	4.72	4.72	0.59763	.	0.047706	0.85682	D	0.000000	D	0.97365	0.9138	.	.	.	0.80722	D	1	P	0.50156	0.932	P	0.61397	0.888	D	0.97271	0.9911	8	.	.	.	-0.0312	13.1911	0.59711	0.0:0.0:0.0:1.0	.	1	P60484	PTEN_HUMAN	K	1	ENSP00000361021:M1K	.	M	+	2	0	PTEN	89614208	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.146000	0.77373	1.750000	0.51863	0.454000	0.30748	ATG		0.507	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	Missense_Mutation	11	19	0	0	0	1	0	11	19				
HEATR1	55127	broad.mit.edu	37	1	236744701	236744701	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr1:236744701T>A	ENST00000366582.3	-	20	2690	c.2576A>T	c.(2575-2577)gAt>gTt	p.D859V	HEATR1_ENST00000366581.2_Missense_Mutation_p.D859V	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	859					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CTGAAAAACATCTTCTAGATG	0.328																																						ENST00000366582.3																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87						c.(2575-2577)gAt>gTt		HEAT repeat containing 1							81.0	81.0	81.0					1																	236744701		2203	4300	6503	SO:0001583	missense	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236744701T>A	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.2576A>T	1.37:g.236744701T>A	ENSP00000355541:p.Asp859Val					HEATR1_ENST00000366581.2_Missense_Mutation_p.D859V	p.D859V	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		20	2690	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	859					Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	c.2576A>T	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	T	18.82	3.705220	0.68615	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.69040	3.42;-0.37	5.85	4.73	0.59995	Armadillo-type fold (1);	0.261755	0.43919	D	0.000520	T	0.71031	0.3292	M	0.67953	2.075	0.80722	D	1	P;D	0.62365	0.949;0.991	P;P	0.52514	0.521;0.701	T	0.72711	-0.4211	10	0.66056	D	0.02	.	8.8985	0.35479	0.0:0.1421:0.0:0.8579	.	859;859	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	V	859	ENSP00000355541:D859V;ENSP00000355540:D859V	ENSP00000355540:D859V	D	-	2	0	HEATR1	234811324	0.631000	0.27164	0.976000	0.42696	0.985000	0.73830	1.596000	0.36718	1.056000	0.40484	0.533000	0.62120	GAT		0.328	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		9	39	0	0	0	1	0	9	39				
PIK3R5	23533	broad.mit.edu	37	17	8794082	8794082	+	Silent	SNP	G	G	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr17:8794082G>A	ENST00000447110.1	-	7	754	c.630C>T	c.(628-630)gaC>gaT	p.D210D	PIK3R5_ENST00000584803.1_Silent_p.D210D|PIK3R5_ENST00000581552.1_Silent_p.D210D	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	210					blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GGCCCGGGACGTCACAGTGGG	0.632																																					NSCLC(18;589 615 7696 20311 50332)	ENST00000447110.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						c.(628-630)gaC>gaT		phosphoinositide-3-kinase, regulatory subunit 5							79.0	68.0	72.0					17																	8794082		2203	4299	6502	SO:0001819	synonymous_variant	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8794082G>A	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.630C>T	17.37:g.8794082G>A						PIK3R5_ENST00000581552.1_Silent_p.D210D|PIK3R5_ENST00000584803.1_Silent_p.D210D	p.D210D	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN			7	754	-			210					B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Silent	SNP	ENST00000447110.1	37	c.630C>T	CCDS11147.1																																																																																				0.632	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		3	13	0	0	0	1	0	3	13				
ACKR2	1238	broad.mit.edu	37	3	42907140	42907140	+	Silent	SNP	A	A	G			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr3:42907140A>G	ENST00000422265.1	+	3	1321	c.1146A>G	c.(1144-1146)aaA>aaG	p.K382K	ACKR2_ENST00000273145.2_Silent_p.K382K|KRBOX1_ENST00000426937.1_Intron|RP11-141M3.5_ENST00000471537.1_RNA|ACKR2_ENST00000442925.1_Silent_p.K382K|CYP8B1_ENST00000437102.1_Intron	NM_001296.4	NP_001287.2	O00590	ACKR2_HUMAN	atypical chemokine receptor 2	382	C-terminal cytoplasmic tail.				chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|multicellular organismal development (GO:0007275)|neutrophil activation (GO:0042119)|receptor-mediated endocytosis (GO:0006898)	actin filament (GO:0005884)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-X-C chemokine receptor activity (GO:0016494)|chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)										TGGGGAATAAATCAGCCTGAG	0.502																																						ENST00000422265.1																			0											c.(1144-1146)aaA>aaG		atypical chemokine receptor 2							71.0	74.0	73.0					3																	42907140		2203	4300	6503	SO:0001819	synonymous_variant	1238							g.chr3:42907140A>G	U94888	CCDS2706.1	3p21.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144648	ENSG00000144648		"""GPCR / Class A : Chemokine receptors : Atypical"""	1565	protein-coding gene	gene with protein product		602648	"""chemokine binding protein 2"""	CMKBR9, CCBP2		9364936, 9405404, 16148	Standard	NM_001296		Approved	CCR10, D6, CCR9	uc003cme.3	O00590	OTTHUMG00000133040	ENST00000422265.1:c.1146A>G	3.37:g.42907140A>G						ACKR2_ENST00000442925.1_Silent_p.K382K|CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000273145.2_Silent_p.K382K|KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000471537.1_Intron	p.K382K	NM_001296.4	NP_001287.2					3	1321	+								B2R8Y8|O00537|Q53YA1|Q86UN9|Q96A02	Silent	SNP	ENST00000422265.1	37	c.1146A>G	CCDS2706.1																																																																																				0.502	ACKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256645.2	NM_001296		14	24	0	0	0	1	0	14	24				
CRYBB2P1	1416	broad.mit.edu	37	22	25855471	25855471	+	RNA	SNP	C	C	T	rs530624401		TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr22:25855471C>T	ENST00000609084.1	+	0	0									crystallin, beta B2 pseudogene 1																		CTTTGGGGCCCGTCACCCTCA	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		18095	0.001		0.0	False		,,,				2504	0.0					ENST00000354451.2																			0																																																			0							g.chr22:25855471C>T	M18441		22q11.2-q12.1	2012-02-29			ENSG00000100058	ENSG00000100058			2399	pseudogene	pseudogene				CRYB2B			Standard	NR_033733		Approved		uc003abu.4		OTTHUMG00000150874		22.37:g.25855471C>T														0	355	+									RNA	SNP	ENST00000609084.1	37																																																																																						0.627	CRYBB2P1-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000472347.1			12	38	0	0	0	1	0	12	38				
NLRP1	22861	broad.mit.edu	37	17	5462410	5462410	+	Missense_Mutation	SNP	G	G	A	rs201070268		TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr17:5462410G>A	ENST00000572272.1	-	4	1605	c.1606C>T	c.(1606-1608)Cgg>Tgg	p.R536W	NLRP1_ENST00000345221.3_Missense_Mutation_p.R536W|NLRP1_ENST00000577119.1_Missense_Mutation_p.R536W|NLRP1_ENST00000262467.5_Missense_Mutation_p.R536W|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000269280.4_Missense_Mutation_p.R536W|NLRP1_ENST00000354411.3_Missense_Mutation_p.R536W			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	536	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TTTTCCTTCCGCTTCATCTGC	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		17204	0.0		0.001	False		,,,				2504	0.0					ENST00000345221.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(1606-1608)Cgg>Tgg		NLR family, pyrin domain containing 1		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	127.0	107.0	114.0		1606,1606,1606,1606,1606	-5.0	0.0	17		114	0,8600		0,0,4300	yes	missense,missense,missense,missense,missense	NLRP1	NM_001033053.2,NM_014922.4,NM_033004.3,NM_033006.3,NM_033007.3	101,101,101,101,101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	536/1376,536/1430,536/1474,536/1444,536/1400	5462410	1,13005	2203	4300	6503	SO:0001583	missense	22861				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	g.chr17:5462410G>A	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.1606C>T	17.37:g.5462410G>A	ENSP00000460475:p.Arg536Trp					NLRP1_ENST00000269280.4_Missense_Mutation_p.R536W|NLRP1_ENST00000572272.1_Missense_Mutation_p.R536W|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000262467.5_Missense_Mutation_p.R536W|NLRP1_ENST00000354411.3_Missense_Mutation_p.R536W|NLRP1_ENST00000577119.1_Missense_Mutation_p.R536W	p.R536W	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN			4	2160	-		Colorectal(1115;3.48e-05)	536			NACHT.		E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	ENST00000572272.1	37	c.1606C>T	CCDS42246.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	15.39	2.819604	0.50633	2.27E-4	0.0	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221	T;T;T;T;T	0.71341	-0.56;-0.56;-0.55;-0.53;-0.55	4.38	-5.04	0.02964	NACHT nucleoside triphosphatase (1);	2.205680	0.02159	N	0.058626	T	0.76126	0.3944	M	0.81682	2.555	0.09310	N	1	D;D;D;D;D	0.76494	0.999;0.999;0.998;0.999;0.998	P;P;P;P;P	0.56474	0.799;0.799;0.634;0.799;0.719	T	0.67891	-0.5553	10	0.72032	D	0.01	.	0.5597	0.00677	0.2542:0.129:0.2224:0.3944	.	536;536;536;536;536	Q9C000-3;Q9C000-4;Q9C000;Q9C000-2;E9PE50	.;.;NALP1_HUMAN;.;.	W	536	ENSP00000442029:R536W;ENSP00000262467:R536W;ENSP00000269280:R536W;ENSP00000346390:R536W;ENSP00000324366:R536W	ENSP00000262467:R536W	R	-	1	2	NLRP1	5403134	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-0.415000	0.07106	-0.549000	0.06191	-0.948000	0.02665	CGG		0.547	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		28	70	0	0	0	1	0	28	70				
NTN4	59277	broad.mit.edu	37	12	96181099	96181099	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr12:96181099G>A	ENST00000343702.4	-	2	651	c.203C>T	c.(202-204)aCg>aTg	p.T68M	NTN4_ENST00000538383.1_Missense_Mutation_p.T31M|NTN4_ENST00000553059.1_Missense_Mutation_p.T68M|NTN4_ENST00000344911.4_Missense_Mutation_p.T31M	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	68	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.			T -> K (in Ref. 1; AAG30822). {ECO:0000305}.	axon guidance (GO:0007411)|extracellular matrix organization (GO:0030198)|neuron remodeling (GO:0016322)|regulation of branching involved in salivary gland morphogenesis by extracellular matrix-epithelial cell signaling (GO:0060668)	basement membrane (GO:0005604)|plasma membrane (GO:0005886)				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						AGTCAGATCCGTGTTCTCACT	0.537																																						ENST00000343702.4																			0				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(202-204)aCg>aTg		netrin 4							124.0	93.0	104.0					12																	96181099		2203	4300	6503	SO:0001583	missense	59277				axon guidance	basement membrane|plasma membrane		g.chr12:96181099G>A	AF119916	CCDS9054.1	12q22	2013-03-01			ENSG00000074527	ENSG00000074527		"""Netrins"""	13658	protein-coding gene	gene with protein product	"""beta-netrin"", ""Netrin-4"""	610401				11038171	Standard	NM_021229		Approved		uc001tei.3	Q9HB63	OTTHUMG00000170290	ENST00000343702.4:c.203C>T	12.37:g.96181099G>A	ENSP00000340998:p.Thr68Met					NTN4_ENST00000344911.4_Missense_Mutation_p.T31M|NTN4_ENST00000553059.1_Missense_Mutation_p.T68M|NTN4_ENST00000538383.1_Missense_Mutation_p.T31M	p.T68M	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN			2	651	-			68	T -> K (in Ref. 1; AAG30822).		Laminin N-terminal.		B2RNC2|Q658K9|Q7L3F1|Q7L9D6|Q7Z5B6|Q9BZP1|Q9NT44|Q9P133	Missense_Mutation	SNP	ENST00000343702.4	37	c.203C>T	CCDS9054.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.811480	0.50527	.	.	ENSG00000074527	ENST00000343702;ENST00000344911;ENST00000538383;ENST00000553059;ENST00000547980	T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;-0.99	5.77	4.88	0.63580	Laminin, N-terminal (3);	0.470192	0.23349	N	0.049147	T	0.66376	0.2783	L	0.36672	1.1	0.23376	N	0.997809	P;P	0.49961	0.914;0.93	B;B	0.43916	0.42;0.436	T	0.60265	-0.7297	10	0.44086	T	0.13	.	10.7911	0.46434	0.1441:0.0:0.8559:0.0	.	68;68	Q9HB63-2;Q9HB63	.;NET4_HUMAN	M	68;31;31;68;31	ENSP00000340998:T68M;ENSP00000339436:T31M;ENSP00000444432:T31M;ENSP00000447292:T68M;ENSP00000447594:T31M	ENSP00000340998:T68M	T	-	2	0	NTN4	94705230	0.059000	0.20769	0.202000	0.23494	0.743000	0.42351	2.462000	0.45049	1.439000	0.47511	0.555000	0.69702	ACG		0.537	NTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408372.1	NM_021229		11	39	0	0	0	1	0	11	39				
PDK1	5163	broad.mit.edu	37	2	173431601	173431601	+	Missense_Mutation	SNP	A	A	T	rs148646668	byFrequency	TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr2:173431601A>T	ENST00000282077.3	+	6	891	c.709A>T	c.(709-711)Agg>Tgg	p.R237W	PDK1_ENST00000410055.1_Missense_Mutation_p.R237W|PDK1_ENST00000392571.2_Missense_Mutation_p.R257W|PDK1_ENST00000543905.1_Missense_Mutation_p.R161W|PDK1_ENST00000544863.1_Missense_Mutation_p.R82W			Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase, isozyme 1	237	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cell proliferation (GO:0008283)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			TGAAAATGCTAGGCGTCTGTG	0.323									Autosomal Dominant Polycystic Kidney Disease																													ENST00000410055.1																			0				central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16						c.(709-711)Agg>Tgg		pyruvate dehydrogenase kinase, isozyme 1							142.0	142.0	142.0					2																	173431601		2203	4300	6503	SO:0001583	missense	5163	Autosomal Dominant Polycystic Kidney Disease	Familial Cancer Database	ADPKD	glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chr2:173431601A>T	L42450	CCDS2250.1, CCDS63059.1	2q31.1	2008-05-23	2005-11-16		ENSG00000152256	ENSG00000152256			8809	protein-coding gene	gene with protein product		602524	"""pyruvate dehydrogenase kinase, isoenzyme 1"""			7499431	Standard	NR_103731		Approved		uc002uhs.3	Q15118	OTTHUMG00000132285	ENST00000282077.3:c.709A>T	2.37:g.173431601A>T	ENSP00000282077:p.Arg237Trp					PDK1_ENST00000392571.2_Missense_Mutation_p.R257W|PDK1_ENST00000282077.2_Missense_Mutation_p.R237W|PDK1_ENST00000544863.1_Missense_Mutation_p.R82W|PDK1_ENST00000543905.1_Missense_Mutation_p.R161W	p.R237W	NM_002610.3	NP_002601.1	Q15118	PDK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.12)		6	809	+			237			Histidine kinase.		B2R6T1|B7Z937|D3DPD8|E9PD65|Q308M4	Missense_Mutation	SNP	ENST00000282077.3	37	c.709A>T	CCDS2250.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.091156	0.76756	.	.	ENSG00000152256	ENST00000543905;ENST00000544863;ENST00000282077;ENST00000392571;ENST00000410055;ENST00000416991	T;T;T;T;T;T	0.67171	0.76;-0.23;1.06;1.05;1.06;-0.25	5.49	5.49	0.81192	ATPase-like, ATP-binding domain (2);	0.125660	0.64402	D	0.000001	D	0.82531	0.5057	M	0.86573	2.825	0.58432	D	0.99999	D;D	0.76494	0.999;0.984	P;P	0.62560	0.904;0.832	D	0.86162	0.1594	10	0.87932	D	0	-18.2878	15.5939	0.76562	1.0:0.0:0.0:0.0	.	237;257	Q15118;E9PD65	PDK1_HUMAN;.	W	161;82;237;257;237;155	ENSP00000438567:R161W;ENSP00000437502:R82W;ENSP00000282077:R237W;ENSP00000376352:R257W;ENSP00000386985:R237W;ENSP00000399160:R155W	ENSP00000282077:R237W	R	+	1	2	PDK1	173139847	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.007000	0.63984	2.095000	0.63458	0.533000	0.62120	AGG		0.323	PDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255380.3	NM_002610		3	16	0	0	0	1	0	3	16				
SPATA31C1	441452	broad.mit.edu	37	9	90535986	90535986	+	RNA	SNP	G	G	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr9:90535986G>A	ENST00000602681.1	+	0	1890							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GCCCTGCGTCGCAGAATAAAG	0.517																																						ENST00000602681.1																			0																				20.0	17.0	18.0					9																	90535986		692	1591	2283			0							g.chr9:90535986G>A	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"""family with sequence similarity 75, member C1"""	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90535986G>A														0	1890	+									RNA	SNP	ENST00000602681.1	37																																																																																						0.517	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		52	158	0	0	0	1	0	52	158				
SEL1L3	23231	broad.mit.edu	37	4	25835187	25835188	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr4:25835187_25835188delTA	ENST00000399878.3	-	4	986_987	c.864_865delTA	c.(862-867)tttactfs	p.T289fs	SEL1L3_ENST00000513364.1_5'UTR|SEL1L3_ENST00000502949.1_Frame_Shift_Del_p.T136fs|SEL1L3_ENST00000264868.5_Frame_Shift_Del_p.T254fs	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	289						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						AATGAAACAGTAAACCTATAAG	0.376																																						ENST00000399878.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						c.(862-867)ttctfs		sel-1 suppressor of lin-12-like 3 (C. elegans)																																				SO:0001589	frameshift_variant	23231					integral to membrane	binding	g.chr4:25835187_25835188delTA	BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"""KIAA0746 protein"""					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.864_865delTA	4.37:g.25835187_25835188delTA	ENSP00000382767:p.Thr289fs					SEL1L3_ENST00000502949.1_Frame_Shift_Del_p.FT135fs|SEL1L3_ENST00000264868.5_Frame_Shift_Del_p.FT253fs|SEL1L3_ENST00000513364.1_5'UTR	p.FT288fs	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN			4	986_987	-			288					A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Frame_Shift_Del	DEL	ENST00000399878.3	37	c.864_865delTA	CCDS47037.1																																																																																				0.376	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187		2	4						2	4	---	---	---	---
RABEPK	10244	broad.mit.edu	37	9	127996226	127996226	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr9:127996226delC	ENST00000373538.3	+	8	1396	c.1086delC	c.(1084-1086)atcfs	p.I362fs	RABEPK_ENST00000394124.4_3'UTR|RABEPK_ENST00000394125.4_Frame_Shift_Del_p.I362fs|RABEPK_ENST00000259460.8_Frame_Shift_Del_p.I311fs	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	362					receptor-mediated endocytosis (GO:0006898)|vesicle docking involved in exocytosis (GO:0006904)	endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						AAGGGGAAATCTATGACGATT	0.388																																						ENST00000373538.3																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(1084-1086)atfs		Rab9 effector protein with kelch motifs							210.0	204.0	206.0					9																	127996226		2203	4300	6503	SO:0001589	frameshift_variant	10244				receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane		g.chr9:127996226delC	BC000503	CCDS6862.1, CCDS55341.1	9q33.1-q33.3	2010-04-19			ENSG00000136933	ENSG00000136933			16896	protein-coding gene	gene with protein product		605962				9230071	Standard	NM_005833		Approved	RAB9P40, bA65N13.1	uc004bpi.3	Q7Z6M1	OTTHUMG00000020674	ENST00000373538.3:c.1086delC	9.37:g.127996226delC	ENSP00000362639:p.Ile362fs					RABEPK_ENST00000259460.8_Frame_Shift_Del_p.I311fs|RABEPK_ENST00000394124.4_3'UTR|RABEPK_ENST00000394125.4_Frame_Shift_Del_p.I362fs	p.I362fs	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN			8	1396	+			362					A8K403|O00568|Q69YR2|Q6FHA4|Q6IBG7|Q6P092|Q86Y76|Q9BWB1	Frame_Shift_Del	DEL	ENST00000373538.3	37	c.1086delC	CCDS6862.1																																																																																				0.388	RABEPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054064.1	NM_005833		32	90						32	90	---	---	---	---
PLCE1	51196	broad.mit.edu	37	10	96053387	96053387	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr10:96053387delT	ENST00000371380.3	+	22	5393	c.5158delT	c.(5158-5160)tctfs	p.S1720fs	PLCE1_ENST00000371385.3_Frame_Shift_Del_p.S1412fs|PLCE1_ENST00000371375.1_Frame_Shift_Del_p.S1412fs|PLCE1_ENST00000260766.3_Frame_Shift_Del_p.S1720fs			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1720	Required for activation by RHOA, RHOB, GNA12, GNA13 and G-beta gamma. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TAACAAAACATCTGGAAAAAG	0.388																																						ENST00000260766.3																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(5158-5160)ctfs		phospholipase C, epsilon 1							94.0	93.0	93.0					10																	96053387		1857	4097	5954	SO:0001589	frameshift_variant	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:96053387delT		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.5158delT	10.37:g.96053387delT	ENSP00000360431:p.Ser1720fs					PLCE1_ENST00000371380.2_Frame_Shift_Del_p.S1720fs|PLCE1_ENST00000371385.3_Frame_Shift_Del_p.S1412fs|PLCE1_ENST00000371375.1_Frame_Shift_Del_p.S1412fs	p.S1720fs	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN			23	5792	+		Colorectal(252;0.0458)	1720			Required for activation by RHOA, RHOB, GNA12, GNA13 and G-beta gamma (By similarity).		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Frame_Shift_Del	DEL	ENST00000371380.3	37	c.5158delT	CCDS41552.1																																																																																				0.388	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		11	25						11	25	---	---	---	---
MESP2	145873	broad.mit.edu	37	15	90320121	90320144	+	In_Frame_Del	DEL	AGGGGCAGGGGCAAGGGCAGGGGC	AGGGGCAGGGGCAAGGGCAGGGGC	-	rs56192595|rs200021459|rs199821487	byFrequency	TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC	ENST00000341735.3	+	1	533_556	c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	c.(532-558)gaggggcaggggcaagggcaggggcag>gag	p.GQGQGQGQ195del	MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior basic helix-loop-helix transcription factor 2	195	13 X 2 AA tandem repeats of G-Q.				mesodermal cell migration (GO:0008078)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q198_G205delQGQGQGQG(1)		kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			ACGCaggcggaggggcaggggcaagggcaggggcaggggcaggg	0.777														3487	0.696286	0.4168	0.7824	5008	,	,		13432	0.8879		0.7654	False		,,,				2504	0.7444					ENST00000341735.3																			1	Deletion - In frame(1)	p.Q198_G205delQGQGQGQG(1)	upper_aerodigestive_tract(1)	kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(532-558)gag>g		mesoderm posterior 2 homolog (mouse)				995,777		385,225,276						0.1	0.0		dbSNP_129	3	3389,1453		1404,581,436	no	coding	MESP2	NM_001039958.1		1789,806,712	A1A1,A1R,RR		30.0083,43.8488,33.7164				4384,2230				SO:0001651	inframe_deletion	145873				Notch signaling pathway	nucleus	DNA binding	g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC		CCDS42078.1	15q26.1	2014-06-30	2014-06-30			ENSG00000188095		"""Basic helix-loop-helix proteins"""	29659	protein-coding gene	gene with protein product		605195	"""mesoderm posterior 2 homolog (mouse)"""			11578861	Standard	NM_001039958		Approved	SCDO2, bHLHc6	uc002bon.3	Q0VG99		ENST00000341735.3:c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	15.37:g.90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC	ENSP00000342392:p.Gly195_Gln202del					MESP2_ENST00000560219.1_Intron|MESP2_ENST00000558723.1_Intron	p.EGQGQGQGQ178del	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)		1	533_556	+	Lung NSC(78;0.0221)|all_lung(78;0.0448)		178					Q7RTU2	In_Frame_Del	DEL	ENST00000341735.3	37	c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	CCDS42078.1																																																																																				0.777	MESP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416421.1	XM_085261		3	4						3	4	---	---	---	---
LOC100287072	100287072	broad.mit.edu	37	17	20623668	20623669	+	RNA	DEL	TT	TT	-	rs539058062	byFrequency	TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr17:20623668_20623669delTT	ENST00000578210.1	+	0	150					NR_073509.1																						gcccggctaatttttttttttt	0.574																																						ENST00000578210.1																			0																																																			0							g.chr17:20623668_20623669delTT																													17.37:g.20623678_20623679delTT								NR_073509.1						0	150	+									RNA	DEL	ENST00000578210.1	37																																																																																						0.574	AC126365.1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000443937.1			3	6						3	6	---	---	---	---
TMEM199	147007	broad.mit.edu	37	17	26684394	26684395	+	5'Flank	INS	-	-	G	rs202089331|rs17856014	byFrequency	TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr17:26684394_26684395insG	ENST00000292114.3	+	0	0				POLDIP2_ENST00000540200.1_Splice_Site|POLDIP2_ENST00000003607.4_5'UTR|TMEM199_ENST00000395404.3_5'Flank|CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000509083.1_5'Flank	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199							integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		AGAGCGGCTTTGCCACCGGGCC	0.762																																						ENST00000540200.1																			0											c.e1+1		polymerase (DNA-directed), delta interacting protein 2				2770,50		1380,10,20						0.4	0.1		dbSNP_130	4	6440,112		3203,34,39	no	frameshift	POLDIP2	NM_015584.3		4583,44,59	A1A1,A1R,RR		1.7094,1.773,1.7286				9210,162				SO:0001631	upstream_gene_variant	26073					mitochondrial nucleoid|nucleus		g.chr17:26684394_26684395insG	AY074907	CCDS11228.1	17q11.2	2007-12-17	2007-12-17	2007-12-17	ENSG00000244045	ENSG00000244045			18085	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 32"""	C17orf32			Standard	NM_152464		Approved	MGC45714	uc002hba.3	Q8N511	OTTHUMG00000132498		17.37:g.26684395_26684395dupG	Exception_encountered					POLDIP2_ENST00000003607.4_5'UTR		NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	1	78	-	all_lung(13;0.000354)|Lung NSC(42;0.00115)								Splice_Site	INS	ENST00000292114.3	37		CCDS11228.1																																																																																				0.762	TMEM199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255676.2	NM_152464		3	4						3	4	---	---	---	---
LRRC37A11P	342666	broad.mit.edu	37	17	37200857	37200857	+	RNA	DEL	A	A	-			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr17:37200857delA	ENST00000425901.2	+	0	2902					NR_033753.2				leucine rich repeat containing 37, member A11, pseudogene																		ACTGCCAAAGAAAAAAAGGCT	0.592																																						ENST00000425901.2																			0																																																			0							g.chr17:37200857delA			17q12	2013-05-14			ENSG00000214553	ENSG00000214553			43815	pseudogene	pseudogene							Standard	NR_033753		Approved		uc002hrd.1		OTTHUMG00000133184		17.37:g.37200857delA								NR_033753.2						0	2902	+									RNA	DEL	ENST00000425901.2	37																																																																																						0.592	LRRC37A11P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444105.1	NR_033753		2	4						2	4	---	---	---	---
P2RX6	9127	broad.mit.edu	37	22	21380124	21380124	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr22:21380124delT	ENST00000413302.2	+	9	1069	c.921delT	c.(919-921)ggtfs	p.G307fs	P2RX6_ENST00000401443.1_Frame_Shift_Del_p.G281fs|P2RX6_ENST00000402329.3_3'UTR|P2RX6_ENST00000336296.2_Frame_Shift_Del_p.G297fs|P2RX6_ENST00000443995.3_Frame_Shift_Del_p.G254fs			O15547	P2RX6_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 6	307					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|channel activity (GO:0015267)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|purinergic nucleotide receptor activity (GO:0001614)|transmembrane signaling receptor activity (GO:0004888)										AGCAACCGGGTGTGGAGGCCC	0.657																																						ENST00000413302.2																			0											c.(919-921)ggfs		purinergic receptor P2X, ligand-gated ion channel, 6							39.0	32.0	35.0					22																	21380124		2178	4265	6443	SO:0001589	frameshift_variant	9127				muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity	g.chr22:21380124delT		CCDS13788.2, CCDS54504.1	22q11.21	2012-01-17	2008-03-28	2008-03-28	ENSG00000099957	ENSG00000099957		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8538	protein-coding gene	gene with protein product		608077	"""purinergic receptor P2X-like 1, orphan receptor"""	P2RXL1		9242461, 10591208, 8786426	Standard	NM_005446		Approved	P2XM, MGC129625, P2X6	uc010gsu.1	O15547	OTTHUMG00000150689	ENST00000413302.2:c.921delT	22.37:g.21380124delT	ENSP00000416193:p.Gly307fs					P2RX6_ENST00000401443.1_Frame_Shift_Del_p.G281fs|P2RX6_ENST00000336296.2_Frame_Shift_Del_p.G297fs|P2RX6_ENST00000402329.3_3'UTR|P2RX6_ENST00000443995.3_Frame_Shift_Del_p.G254fs	p.G307fs			O15547	P2RX6_HUMAN			9	1069	+			307					F6V3D7|Q32MB6|Q58F04|Q6IC33|Q9UL50	Frame_Shift_Del	DEL	ENST00000413302.2	37	c.921delT	CCDS13788.2																																																																																				0.657	P2RX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319625.2	NM_005446		2	4						2	4	---	---	---	---
