#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_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_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_Description	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_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_AccessionNumbers	i_HGNC_CCDS IDs	i_HGNC_CCDSIDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_DateModified	i_HGNC_DateNameChanged	i_HGNC_DateSymbolChanged	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_EnsemblGeneID	i_HGNC_EnsemblIDsuppliedbyEnsembl	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_Genefamilydescription	i_HGNC_HGNC ID	i_HGNC_HGNCID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_LocusGroup	i_HGNC_LocusType	i_HGNC_Name Synonyms	i_HGNC_NameSynonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_OMIMIDsuppliedbyNCBI	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_PreviousNames	i_HGNC_PreviousSymbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_PubmedIDs	i_HGNC_Record Type	i_HGNC_RecordType	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_RefSeqsuppliedbyNCBI	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UCSCIDsuppliedbyUCSC	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_UniProtIDsuppliedbyUniProt	i_HGNC_VEGA IDs	i_HGNC_VEGAIDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	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_Region	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_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_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_hg18_pos1coor	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_init_n_lod	i_init_t_lod	i_n_alt_count	i_n_alt_count_full	i_n_ref_count	i_n_ref_count_full	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_lod_fstar	i_t_lod_fstar_full	i_t_ref_count_full	i_tumor_f_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	tumor_f
PPP2R2A	5520	broad.mit.edu	37	8	26212088	26212088	+	Missense_Mutation	SNP	G	G	C			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr8:26212088G>C	ENST00000380737.3	+	4	614	c.285G>C	c.(283-285)aaG>aaC	p.K95N	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.K105N	NM_002717.3	NP_002708.1	P63151	2ABA_HUMAN	protein phosphatase 2, regulatory subunit B, alpha	95					G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|response to morphine (GO:0043278)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		TAGAAGAAAAGATCAACAAAA	0.368																																						ENST00000380737.3											0			kidney(1)|large_intestine(2)|ovary(1)	4						c.(283-285)aaG>aaC	protein phosphatase 2, regulatory subunit B, alpha						95.0	94.0	95.0					8																	26212088		2203	4300	6503	SO:0001583	missense	5520						g.chr8:26212088G>C	M64929	M64929	CCDS34867.1, CCDS55213.1	CCDS34867.1, CCDS55213.1	8p21.2	2013-01-10	2010-04-14		2013-01-10	2010-04-14		ENSG00000221914	ENSG00000221914	ENSG00000221914	ENSG00000221914	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9304	9304	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""PP2A subunit B isoform alpha"""	"""PP2A subunit B isoform alpha"""	604941	604941	"""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, alpha isoform"""		"""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, alpha isoform"""			1849734	1849734	Standard	Standard	NM_001177591	NM_001177591		Approved	PR52A, PR55A, B55A			P63151	P63151	OTTHUMG00000163850	OTTHUMG00000163850	ENST00000380737.3:c.285G>C	8.37:g.26212088G>C	ENSP00000370113:p.Lys95Asn		PPP2R2A_ENST00000315985.7_Missense_Mutation_p.K105N	p.K95N	NM_002717.3	NP_002708.1				UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)	4	614	+		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)			B2RBU8|B4E1T7|P50409|Q00007	Missense_Mutation	SNP	ENST00000380737.3	37	c.285G>C	CCDS34867.1	.	.	.	.	.	.	.	.	.	.	G	33	5.248856	0.95305	.	.	ENSG00000221914	ENST00000380737;ENST00000315985	T;T	0.30448	1.53;1.53	5.98	5.98	0.97165	5.98	5.98	0.97165	Protein phosphatase 2A, regulatory subunit PR55, conserved site (1);WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	U	0.000000	T	0.67239	0.2872	M	0.91663	3.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.73148	-0.4074	10	0.87932	D	0	-20.2926	20.4434	0.99119	0.0:0.0:1.0:0.0	.	105;95	B4E1T7;P63151	.;2ABA_HUMAN	N	95;105	ENSP00000370113:K95N;ENSP00000325074:K105N	ENSP00000325074:K105N	K	+	3	2	2	PPP2R2A	26268005	26268005	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.218000	0.58554	2.838000	0.97847	0.655000	0.94253	AAG		0.368	PPP2R2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375954.2		71.500761	-4	-4	90	90	NM_002717		26	77.233574	77.233574	77	0.252427	0	0	0	1	0	26	77	0.252427
PTPN3	5774	broad.mit.edu	37	9	112195403	112195403	+	Silent	SNP	G	G	A	rs377671421		TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr9:112195403G>A	ENST00000374541.2	-	10	818	c.714C>T	c.(712-714)tcC>tcT	p.S238S	PTPN3_ENST00000446349.1_Silent_p.S107S|PTPN3_ENST00000412145.1_Silent_p.S107S|PTPN3_ENST00000262539.3_Silent_p.S129S	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	238	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CAACACCCGCGGAAGCAATTC	0.393																																						ENST00000412145.1											0			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(319-321)tcC>tcT	protein tyrosine phosphatase, non-receptor type 3	G	,,,	0,4406		0,0,2203	134.0	121.0	125.0		714,321,321,714	-12.2	0.1	9		125	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PTPN3	NM_001145368.1,NM_001145369.1,NM_001145370.1,NM_002829.3	,,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,,	238/869,107/783,107/738,238/914	112195403	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr9:112195403G>A			CCDS6776.1, CCDS48000.1, CCDS48001.1	CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			2011-06-09			ENSG00000070159	ENSG00000070159	ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	9655	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			176877	176877						1648725	1648725	Standard	Standard	NM_002829	NM_002829		Approved	PTPH1	uc004bed.2	uc004bed.2	P26045	P26045	OTTHUMG00000020475	OTTHUMG00000020475	ENST00000374541.2:c.714C>T	9.37:g.112195403G>A			PTPN3_ENST00000262539.3_Silent_p.S129S|PTPN3_ENST00000446349.1_Silent_p.S107S|PTPN3_ENST00000374541.2_Silent_p.S238S	p.S107S	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN			5	2874	-			238	FERM.	A0AUW9|E7EN99|E9PGU7	Silent	SNP	ENST00000374541.2	37	c.321C>T	CCDS6776.1																																																																																									0.393	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4		-7.529862	27	27	91	91			3	6.754191	6.754191	62	0.046154	0	0	0	1	0	3	62	0.046154
TPCN1	53373	broad.mit.edu	37	12	113664727	113664727	+	Missense_Mutation	SNP	G	G	T			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr12:113664727G>T	ENST00000335509.6	+	2	384	c.70G>T	c.(70-72)Gct>Tct	p.A24S	TPCN1_ENST00000541517.1_Missense_Mutation_p.A96S|TPCN1_ENST00000550785.1_Missense_Mutation_p.A96S	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	24					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						TGCCCCACTGGCTCCCTCCAA	0.582																																						ENST00000550785.1											0			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						c.(286-288)Gct>Tct	two pore segment channel 1						62.0	54.0	57.0					12																	113664727		2203	4300	6503	SO:0001583	missense	53373				endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	g.chr12:113664727G>T	AB032995	AB032995	CCDS31908.1, CCDS44985.1	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			2011-07-05			ENSG00000186815	ENSG00000186815	ENSG00000186815	ENSG00000186815		"""Voltage-gated ion channels / Two-pore channels"""	"""Voltage-gated ion channels / Two-pore channels"""	18182	18182	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609666	609666						10574461, 10753632, 16382101	10574461, 10753632, 16382101	Standard	Standard	XM_005253905	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	uc001tux.3	Q9ULQ1	Q9ULQ1	OTTHUMG00000169625	OTTHUMG00000169625	ENST00000335509.6:c.70G>T	12.37:g.113664727G>T	ENSP00000335300:p.Ala24Ser		TPCN1_ENST00000541517.1_Missense_Mutation_p.A96S|TPCN1_ENST00000335509.6_Missense_Mutation_p.A24S	p.A96S	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN			3	455	+			24		A7E258|Q86XS9|Q8NC20	Missense_Mutation	SNP	ENST00000335509.6	37	c.286G>T	CCDS31908.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.065925	0.36470	.	.	ENSG00000186815	ENST00000547275;ENST00000552985;ENST00000550873;ENST00000551096;ENST00000551099;ENST00000335509;ENST00000550785;ENST00000549279;ENST00000541517	T;T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03;1.03	4.88	0.851	0.18989	4.88	0.851	0.18989	.	0.539355	0.17831	N	0.160542	T	0.26340	0.0643	L	0.36672	1.1	0.25357	N	0.988814	B;B	0.09022	0.002;0.001	B;B	0.11329	0.006;0.001	T	0.17349	-1.0372	10	0.22109	T	0.4	4.2607	4.9598	0.14061	0.1893:0.3357:0.475:0.0	.	96;24	Q9ULQ1-3;Q9ULQ1	.;TPC1_HUMAN	S	79;110;24;96;24;24;96;24;96	ENSP00000449560:A79S;ENSP00000447569:A110S;ENSP00000447073:A24S;ENSP00000447263:A96S;ENSP00000335300:A24S;ENSP00000448083:A96S;ENSP00000438125:A96S	ENSP00000335300:A24S	A	+	1	0	0	TPCN1	112149110	112149110	0.977000	0.34250	0.587000	0.28692	0.916000	0.54674	0.804000	0.27098	-0.014000	0.14175	0.462000	0.41574	GCT		0.582	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3		21.490945	-6	-6	38	38	NM_017901		8	22.210751	22.210751	17	0.320000	1	0	2.17888e-05	1	2.17888e-05	8	17	0.32
PPP1R17	10842	broad.mit.edu	37	7	31732078	31732078	+	Missense_Mutation	SNP	A	A	G	rs371948999		TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr7:31732078A>G	ENST00000342032.3	+	2	651	c.23A>G	c.(22-24)cAg>cGg	p.Q8R	PPP1R17_ENST00000409146.3_Missense_Mutation_p.Q8R	NM_006658.4	NP_006649.2	O96001	PPR17_HUMAN	protein phosphatase 1, regulatory subunit 17	8					central nervous system development (GO:0007417)|intracellular signal transduction (GO:0035556)|regulation of phosphatase activity (GO:0010921)		protein serine/threonine phosphatase inhibitor activity (GO:0004865)										GAGCAAATGCAGCCACTGGAA	0.438																																						ENST00000342032.3											0										c.(22-24)cAg>cGg	protein phosphatase 1, regulatory subunit 17	A	ARG/GLN,ARG/GLN	0,4406		0,0,2203	118.0	104.0	108.0		23,23	5.0	1.0	7		108	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	C7orf16	NM_001145123.2,NM_006658.4	43,43	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign,benign	8/105,8/156	31732078	1,13005	2203	4300	6503	SO:0001583	missense	10842			behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation	soluble fraction		g.chr7:31732078A>G	AF071789	AF071789	CCDS5436.1, CCDS47570.1	CCDS5436.1, CCDS47570.1	7p15	2012-04-17	2011-10-11	2011-10-11	2012-04-17	2011-10-11	2011-10-11	ENSG00000106341	ENSG00000106341	ENSG00000106341	ENSG00000106341		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16973	16973	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""G-substrate"""	"""G-substrate"""	604088	604088	"""chromosome 7 open reading frame 16"""	C7orf16	"""chromosome 7 open reading frame 16"""	C7orf16		10051666, 9920894	10051666, 9920894	Standard	Standard	NM_006658	NM_006658		Approved	GSBS	uc003tcl.3	uc003tcl.3	O96001	O96001	OTTHUMG00000128629	OTTHUMG00000128629	ENST00000342032.3:c.23A>G	7.37:g.31732078A>G	ENSP00000340125:p.Gln8Arg		PPP1R17_ENST00000409146.3_Missense_Mutation_p.Q8R	p.Q8R	NM_006658.4	NP_006649.2	O96001	GSUB_HUMAN			2	651	+			8		B4DE58|Q9UDQ0	Missense_Mutation	SNP	ENST00000342032.3	37	c.23A>G	CCDS5436.1	.	.	.	.	.	.	.	.	.	.	A	14.95	2.689711	0.48097	0.0	1.16E-4	ENSG00000106341	ENST00000342032;ENST00000409146	T;T	0.35421	1.31;1.34	6.16	5.0	0.66597	6.16	5.0	0.66597	.	0.482604	0.21929	N	0.067047	T	0.33789	0.0875	L	0.54323	1.7	0.28909	N	0.892806	P;P	0.46512	0.879;0.879	B;B	0.39258	0.295;0.295	T	0.30387	-0.9980	10	0.54805	T	0.06	-8.7866	12.2987	0.54862	0.7331:0.2669:0.0:0.0	.	8;8	B4DE58;O96001	.;PPR17_HUMAN	R	8	ENSP00000340125:Q8R;ENSP00000386459:Q8R	ENSP00000340125:Q8R	Q	+	2	0	0	C7orf16	31698603	31698603	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.702000	0.47102	1.114000	0.41781	0.528000	0.53228	CAG		0.438	PPP1R17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250498.1		-7.025658	13	13	65	65	NM_006658		3	6.418007	6.418007	59	0.048387	0	0	0	1	0	3	59	0.048387
ADAM21	8747	broad.mit.edu	37	14	70925884	70925884	+	Silent	SNP	T	T	C			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr14:70925884T>C	ENST00000603540.1	+	2	1926	c.1668T>C	c.(1666-1668)tcT>tcC	p.S556S	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Silent_p.S556S	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	556	Cys-rich.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GTCATATCTCTGATGTCTTTT	0.383																																						ENST00000603540.1											0			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31						c.(1666-1668)tcT>tcC	ADAM metallopeptidase domain 21						39.0	50.0	46.0					14																	70925884		2187	4290	6477	SO:0001819	synonymous_variant	8747			proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70925884T>C	AF029900	AF029900	CCDS9804.1	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985	ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	"""ADAM metallopeptidase domain containing"""	200	200	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603713	603713	"""a disintegrin and metalloproteinase domain 21"""		"""a disintegrin and metalloproteinase domain 21"""			9469942	9469942	Standard	Standard	NM_003813	NM_003813		Approved	ADAM31	uc001xmd.3	uc001xmd.3	Q9UKJ8	Q9UKJ8			ENST00000603540.1:c.1668T>C	14.37:g.70925884T>C			RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Silent_p.S556S	p.S556S	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN		all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	2	1926	+			556	Cys-rich.	O43507|Q2VPC6|Q32MR0	Silent	SNP	ENST00000603540.1	37	c.1668T>C	CCDS9804.1																																																																																									0.383	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3		73.252976	-29	-29	55	55			25	73.257653	73.257653	26	0.490196	0	0	0	1	0	25	26	0.490196
GRM6	2916	broad.mit.edu	37	5	178410055	178410055	+	Silent	SNP	C	C	T			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr5:178410055C>T	ENST00000517717.1	-	10	2330	c.2292G>A	c.(2290-2292)acG>acA	p.T764T	GRM6_ENST00000231188.5_Silent_p.T764T|RP11-281O15.4_ENST00000519491.1_RNA			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	764					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		ACACTGTGCACGTGACCATGA	0.627																																						ENST00000231188.5											0			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55						c.(2290-2292)acG>acA	glutamate receptor, metabotropic 6						129.0	106.0	114.0					5																	178410055		2203	4300	6503	SO:0001819	synonymous_variant	2916			detection of visible light|visual perception	integral to plasma membrane		g.chr5:178410055C>T	U82083	U82083	CCDS4442.1	CCDS4442.1	5q35	2014-01-28			2014-01-28								"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	4598	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604096	604096						9215706	9215706	Standard	Standard	NM_000843	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	uc003mjr.3	O15303	O15303	OTTHUMG00000130889	OTTHUMG00000130889	ENST00000517717.1:c.2292G>A	5.37:g.178410055C>T			GRM6_ENST00000517717.1_Silent_p.T764T|RP11-281O15.4_ENST00000519491.1_RNA	p.T764T	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	9	2470	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	764			Silent	SNP	ENST00000517717.1	37	c.2292G>A	CCDS4442.1																																																																																									0.627	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2		80.773761	17	17	77	77			25	80.790414	80.790414	27	0.480769	0	0	0	1	0	25	27	0.480769
HELZ2	85441	broad.mit.edu	37	20	62193474	62193474	+	Silent	SNP	C	C	T			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr20:62193474C>T	ENST00000467148.1	-	10	6549	c.6480G>A	c.(6478-6480)gcG>gcA	p.A2160A	HELZ2_ENST00000427522.2_Silent_p.A1591A	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	2160	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CCTCCCTGACCGCCACGTTCT	0.672																																						ENST00000467148.1											0										c.(6478-6480)gcG>gcA	helicase with zinc finger 2, transcriptional coactivator						16.0	19.0	18.0					20																	62193474		2188	4279	6467	SO:0001819	synonymous_variant	85441						g.chr20:62193474C>T	AB201715	AB201715	CCDS13527.1, CCDS33508.1	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			2012-09-26			ENSG00000130589	ENSG00000130589	ENSG00000130589	ENSG00000130589				30021	30021	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265	611265						11214970, 12189208, 16239304	11214970, 12189208, 16239304	Standard	Standard	NM_001037335	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	uc002yfm.2	Q9BYK8	Q9BYK8	OTTHUMG00000032969	OTTHUMG00000032969	ENST00000467148.1:c.6480G>A	20.37:g.62193474C>T			HELZ2_ENST00000427522.2_Silent_p.A1591A	p.A2160A	NM_001037335.2	NP_001032412.2					10	6549	-					Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	ENST00000467148.1	37	c.6480G>A	CCDS33508.1																																																																																									0.672	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1		16.275172	0	0	22	22	NM_001037335		5	16.275172	16.275172	5	0.500000	0	0	0	1	0	5	5	0.5
FCGRT	2217	broad.mit.edu	37	19	50028774	50028774	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr19:50028774C>T	ENST00000221466.5	+	6	1418	c.932C>T	c.(931-933)aCg>aTg	p.T311M	FCGRT_ENST00000599988.1_Missense_Mutation_p.T45M|FCGRT_ENST00000426395.3_Missense_Mutation_p.T311M|FCGRT_ENST00000596975.1_Missense_Mutation_p.T219M|RCN3_ENST00000270645.3_5'Flank	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	311					antigen processing and presentation (GO:0019882)|IgG immunoglobulin transcytosis in epithelial cells mediated by FcRn immunoglobulin receptor (GO:0002416)|immune response (GO:0006955)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG binding (GO:0019864)			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		TTGCTACTCACGGCAGCGGCT	0.612																																						ENST00000221466.5											0			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9						c.(931-933)aCg>aTg	Fc fragment of IgG, receptor, transporter, alpha						81.0	70.0	74.0					19																	50028774		2203	4300	6503	SO:0001583	missense	2217			antigen processing and presentation|female pregnancy|immune response	integral to membrane|MHC class I protein complex	IgG binding|receptor activity	g.chr19:50028774C>T	U12255	U12255	CCDS12770.1	CCDS12770.1	19q13.3	2013-01-11			2013-01-11				ENSG00000104870		ENSG00000104870		"""Immunoglobulin superfamily / C1-set domain containing"""	"""Immunoglobulin superfamily / C1-set domain containing"""	3621	3621	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601437	601437						7964511, 8646894	7964511, 8646894	Standard	Standard	NM_001136019	NM_001136019		Approved	FCRN, alpha-chain	uc002pog.2	uc002pog.2	P55899	P55899			ENST00000221466.5:c.932C>T	19.37:g.50028774C>T	ENSP00000221466:p.Thr311Met		FCGRT_ENST00000599988.1_Missense_Mutation_p.T45M|FCGRT_ENST00000426395.3_Missense_Mutation_p.T311M|FCGRT_ENST00000596975.1_Missense_Mutation_p.T219M	p.T311M	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)	6	1418	+		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)	311		Q5HYM5|Q9HBV7|Q9NZ19	Missense_Mutation	SNP	ENST00000221466.5	37	c.932C>T	CCDS12770.1	.	.	.	.	.	.	.	.	.	.	C	8.545	0.874235	0.17395	.	.	ENSG00000104870	ENST00000221466;ENST00000426395	T;T	0.00711	5.8;5.8	3.93	-2.75	0.05914	3.93	-2.75	0.05914	.	3.584560	0.00772	N	0.001203	T	0.00666	0.0022	N	0.11064	0.09	0.09310	N	1	B	0.26602	0.154	B	0.11329	0.006	T	0.48768	-0.9006	10	0.87932	D	0	.	9.3362	0.38051	0.0:0.4716:0.0:0.5284	.	311	P55899	FCGRN_HUMAN	M	311	ENSP00000221466:T311M;ENSP00000410798:T311M	ENSP00000221466:T311M	T	+	2	0	0	FCGRT	54720586	54720586	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.019000	0.01442	-0.641000	0.05487	-0.993000	0.02533	ACG		0.612	FCGRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465267.1		51.734862	-2	-2	85	85			18	52.939461	52.939461	35	0.339623	0	0	0	1	0	18	35	0.339623
AMICA1	120425	broad.mit.edu	37	11	118071314	118071314	+	Silent	SNP	C	C	T	rs377621403		TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr11:118071314C>T	ENST00000356289.5	-	7	959	c.786G>A	c.(784-786)ccG>ccA	p.P262P	AMICA1_ENST00000526620.1_Silent_p.P223P|AMICA1_ENST00000292067.7_Silent_p.P252P|AMICA1_ENST00000533261.1_Silent_p.P251P	NM_001098526.1	NP_001091996.1	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	262					blood coagulation (GO:0007596)|gamma-delta T cell activation (GO:0046629)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte migration (GO:0050900)|monocyte extravasation (GO:0035696)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TCAGGGCTGCCGGGGTCACCA	0.522																																						ENST00000292067.7											0			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20						c.(754-756)ccG>ccA	adhesion molecule, interacts with CXADR antigen 1	C	,	0,4400		0,0,2200	73.0	75.0	75.0		786,756	-6.4	0.0	11		75	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous,coding-synonymous	AMICA1	NM_001098526.1,NM_153206.2	,	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	,	262/395,252/385	118071314	1,12991	2200	4296	6496	SO:0001819	synonymous_variant	120425			blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane		g.chr11:118071314C>T	AY138965, AY358362	AY138965, AY358362	CCDS8391.1, CCDS41723.1, CCDS66240.1	CCDS8391.1, CCDS41723.1, CCDS66240.1	11q23.3	2013-01-11			2013-01-11				ENSG00000160593		ENSG00000160593		"""Immunoglobulin superfamily / V-set domain containing"""	"""Immunoglobulin superfamily / V-set domain containing"""	19084	19084	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609770	609770						12975309	12975309	Standard	Standard	NM_001098526	NM_001098526		Approved	Gm638, AMICA	uc001psk.2	uc001psk.2	Q86YT9	Q86YT9			ENST00000356289.5:c.786G>A	11.37:g.118071314C>T			AMICA1_ENST00000356289.5_Silent_p.P262P|AMICA1_ENST00000533261.1_Silent_p.P251P|AMICA1_ENST00000526620.1_Silent_p.P223P	p.P252P	NM_153206.2	NP_694938.2	Q86YT9	JAML1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	6	1197	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	262		B0YIV1|B0YIV2|Q496M1|Q5DTC6|Q7Z499|Q8N9I7|Q8NF70	Silent	SNP	ENST00000356289.5	37	c.756G>A	CCDS41723.1																																																																																									0.522	AMICA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392105.2		50.899231	9	9	58	58	NM_153206		16	50.905786	50.905786	17	0.484848	0	0	0	1	0	16	17	0.484848
FOXL1	2300	broad.mit.edu	37	16	86612675	86612675	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr16:86612675C>T	ENST00000320241.3	+	1	561	c.346C>T	c.(346-348)Cgg>Tgg	p.R116W		NM_005250.2	NP_005241.1	Q12952	FOXL1_HUMAN	forkhead box L1	116					heart development (GO:0007507)|multicellular organismal development (GO:0007275)|organ morphogenesis (GO:0009887)|Peyer's patch morphogenesis (GO:0061146)|proteoglycan biosynthetic process (GO:0030166)|regulation of Wnt signaling pathway (GO:0030111)|transcription, DNA-templated (GO:0006351)|visceral mesoderm-endoderm interaction involved in midgut development (GO:0007495)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						CGAGAAAGGGCGGCCGGGCAA	0.657																																					NSCLC(163;308 2020 10889 11476 18208)	ENST00000320241.3											0			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						c.(346-348)Cgg>Tgg	forkhead box L1						71.0	76.0	74.0					16																	86612675		2198	4300	6498	SO:0001583	missense	2300			brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr16:86612675C>T	AF315075	AF315075	CCDS10959.1	CCDS10959.1	16q24	2014-07-15			2014-07-15			ENSG00000176678	ENSG00000176678	ENSG00000176678	ENSG00000176678		"""Forkhead boxes"""	"""Forkhead boxes"""	3817	3817	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603252	603252		FKHL11		FKHL11		7957066	7957066	Standard	Standard	NM_005250	NM_005250		Approved	FREAC7, FKH6	uc002fjr.3	uc002fjr.3	Q12952	Q12952	OTTHUMG00000137653	OTTHUMG00000137653	ENST00000320241.3:c.346C>T	16.37:g.86612675C>T	ENSP00000326272:p.Arg116Trp			p.R116W	NM_005250.2	NP_005241.1	Q12952	FOXL1_HUMAN			1	561	+			116		Q17RR1|Q9H242	Missense_Mutation	SNP	ENST00000320241.3	37	c.346C>T	CCDS10959.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.159965	0.57368	.	.	ENSG00000176678	ENST00000320241	D	0.95690	-3.78	3.93	2.95	0.34219	3.93	2.95	0.34219	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.075221	0.53938	D	0.000045	D	0.97309	0.9120	M	0.85197	2.74	0.46564	D	0.999103	D	0.89917	1.0	D	0.77004	0.989	D	0.96961	0.9701	10	0.87932	D	0	.	10.1866	0.43002	0.3608:0.6392:0.0:0.0	.	116	Q12952	FOXL1_HUMAN	W	116	ENSP00000326272:R116W	ENSP00000326272:R116W	R	+	1	2	2	FOXL1	85170176	85170176	0.010000	0.17322	0.981000	0.43875	0.801000	0.45260	0.248000	0.18198	0.823000	0.34589	0.491000	0.48974	CGG		0.657	FOXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269105.2		-13.868082	-25	-25	99	99	NM_005250		4	7.515892	7.515892	91	0.042105	0	0	0	1	0	4	91	0.042105
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	AC005262.2_ENST00000585980.1_RNA|AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma																																	ENST00000078429.4		Dom	yes		19	19p13.3	2767	"""guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"""		E	82	Substitution - Missense(82)	eye(69)|skin(8)|meninges(5)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(625-627)cAg>cTg	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)						104.0	89.0	94.0					19																	3118942		2203	4300	6503	SO:0001583	missense	2767			activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3118942A>T	AF493900	AF493900	CCDS12103.1	CCDS12103.1	19p13.3	2014-02-04			2014-02-04			ENSG00000088256	ENSG00000088256	ENSG00000088256	ENSG00000088256				4379	4379	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			139313	139313	"""hypocalciuric hypercalcemia 2"""	HHC2	"""hypocalciuric hypercalcemia 2"""	HHC2		1302014, 23802516	1302014, 23802516	Standard	Standard	NM_002067	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	uc002lxd.3	P29992	P29992	OTTHUMG00000180631	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu		AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	p.Q209L	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	5	868	+		Hepatocellular(1079;0.137)	209		O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.626A>T	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	0	GNA11	3069942	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG		0.612	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2		60.062185	4	4	85	85	NM_002067		21	60.646349	60.646349	33	0.388889	0	0	0	1	0	21	33	0.388889
RYR1	6261	broad.mit.edu	37	19	38979906	38979906	+	Silent	SNP	C	C	T	rs143418190	byFrequency	TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr19:38979906C>T	ENST00000359596.3	+	35	5637	c.5637C>T	c.(5635-5637)gaC>gaT	p.D1879D	RYR1_ENST00000355481.4_Silent_p.D1879D|RYR1_ENST00000360985.3_Silent_p.D1879D			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1879	6 X approximate repeats.|Glu-rich (acidic).				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	aggaggaggacgaggaggaag	0.498																																						ENST00000355481.4											0			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(5635-5637)gaC>gaT	ryanodine receptor 1 (skeletal)	C	,	1,4405	2.1+/-5.4	0,1,2202	91.0	75.0	80.0		5637,5637	-0.6	0.9	19	dbSNP_134	80	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous,coding-synonymous	RYR1	NM_000540.2,NM_001042723.1	,	0,7,6496	TT,TC,CC		0.0698,0.0227,0.0538	,	1879/5039,1879/5034	38979906	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	6261			muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38979906C>T	J05200	J05200	CCDS33011.1, CCDS42563.1	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17			2014-09-17				ENSG00000196218		ENSG00000196218		"""Ion channels / Ryanodine receptors"""	"""Ion channels / Ryanodine receptors"""	10483	10483	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	"""protein phosphatase 1, regulatory subunit 137"""	180901	180901	"""central core disease of muscle"""	MHS, MHS1, CCO	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	1862346, 16621918	Standard	Standard	NM_000540	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	uc002oit.3	P21817	P21817			ENST00000359596.3:c.5637C>T	19.37:g.38979906C>T			RYR1_ENST00000359596.3_Silent_p.D1879D|RYR1_ENST00000360985.3_Silent_p.D1879D	p.D1879D	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		35	5768	+	all_cancers(60;7.91e-06)		1879	6 X approximate repeats.|Glu-rich (acidic).	Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.5637C>T	CCDS33011.1																																																																																									0.498	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		32.722253	7	7	31	31			11	32.758519	32.758519	13	0.458333	0	0	0	1	0	11	13	0.458333
ZNF836	162962	broad.mit.edu	37	19	52659256	52659256	+	Silent	SNP	G	G	C			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr19:52659256G>C	ENST00000322146.8	-	5	2201	c.1680C>G	c.(1678-1680)ggC>ggG	p.G560G	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Silent_p.G560G	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	560					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TGAAGACCTTGCCACACACAT	0.383																																						ENST00000322146.8											0			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1678-1680)ggC>ggG	zinc finger protein 836						165.0	176.0	172.0					19																	52659256		2052	4237	6289	SO:0001819	synonymous_variant	162962			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52659256G>C	BC011784	BC011784	CCDS46162.1	CCDS46162.1	19q13.33	2013-01-08			2013-01-08			ENSG00000196267	ENSG00000196267	ENSG00000196267	ENSG00000196267		"""Zinc fingers, C2H2-type"", ""-"""	"""Zinc fingers, C2H2-type"", ""-"""	34333	34333	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001102657	NM_001102657		Approved	FLJ16287	uc010ydj.2	uc010ydj.2	Q6ZNA1	Q6ZNA1			ENST00000322146.8:c.1680C>G	19.37:g.52659256G>C			ZNF836_ENST00000597252.1_Silent_p.G560G|CTC-471J1.8_ENST00000594362.1_RNA	p.G560G	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN			5	2201	-			560			Silent	SNP	ENST00000322146.8	37	c.1680C>G	CCDS46162.1																																																																																									0.383	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1		158.622991	2	2	197	197	NM_001102657		54	162.348999	162.348999	106	0.337500	0	0	0	1	0	54	106	0.3375
RRBP1	6238	broad.mit.edu	37	20	17639295	17639295	+	Missense_Mutation	SNP	T	T	C			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr20:17639295T>C	ENST00000377813.1	-	3	2161	c.1858A>G	c.(1858-1860)Aag>Gag	p.K620E	RRBP1_ENST00000360807.4_Missense_Mutation_p.K190E|RRBP1_ENST00000455029.2_Intron|RRBP1_ENST00000377807.2_Missense_Mutation_p.K190E|RRBP1_ENST00000246043.4_Missense_Mutation_p.K620E			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	620					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						GCCTCTTGCTTTGGTGCCTCT	0.473																																						ENST00000377813.1											0			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						c.(1858-1860)Aag>Gag	ribosome binding protein 1						152.0	139.0	143.0					20																	17639295		2203	4300	6503	SO:0001583	missense	6238			protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity	g.chr20:17639295T>C	AB037819	AB037819	CCDS13128.1	CCDS13128.1	20p12	2012-12-07	2012-12-07		2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844	ENSG00000125844	ENSG00000125844				10448	10448	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601418	601418	"""ribosome binding protein 1 (dog 180kD homolog)"", ""ribosome binding protein 1 homolog 180kDa (dog)"""		"""ribosome binding protein 1 (dog 180kD homolog)"", ""ribosome binding protein 1 homolog 180kDa (dog)"""			8812507	8812507	Standard	Standard	NM_001042576	NM_001042576		Approved	ES/130, hES	uc002wpw.1	uc002wpw.1	Q9P2E9	Q9P2E9	OTTHUMG00000031945	OTTHUMG00000031945	ENST00000377813.1:c.1858A>G	20.37:g.17639295T>C	ENSP00000367044:p.Lys620Glu		RRBP1_ENST00000246043.4_Missense_Mutation_p.K620E|RRBP1_ENST00000377807.2_Missense_Mutation_p.K190E|RRBP1_ENST00000360807.4_Missense_Mutation_p.K190E|RRBP1_ENST00000455029.2_Intron	p.K620E			Q9P2E9	RRBP1_HUMAN			3	2161	-			620		A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Missense_Mutation	SNP	ENST00000377813.1	37	c.1858A>G		.	.	.	.	.	.	.	.	.	.	T	15.22	2.768536	0.49680	.	.	ENSG00000125844	ENST00000360807;ENST00000377813;ENST00000377807;ENST00000246043	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.41	4.29	0.51040	5.41	4.29	0.51040	.	0.000000	0.37857	N	0.001901	T	0.31857	0.0810	L	0.46157	1.445	0.80722	D	1	B	0.31435	0.323	B	0.24006	0.05	T	0.07139	-1.0788	10	0.10111	T	0.7	-43.68	6.5132	0.22234	0.0:0.0794:0.1584:0.7622	.	190	Q9P2E9-3	.	E	190;620;190;620	ENSP00000354045:K190E;ENSP00000367044:K620E;ENSP00000367038:K190E;ENSP00000246043:K620E	ENSP00000246043:K620E	K	-	1	0	0	RRBP1	17587295	17587295	0.998000	0.40836	0.993000	0.49108	0.299000	0.27559	3.475000	0.53136	0.984000	0.38629	0.482000	0.46254	AAG		0.473	RRBP1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000078125.1		141.351072	0	0	140	140	NM_001042576		45	142.296109	142.296109	67	0.401786	0	0	0	1	0	45	67	0.401786
GIPC2	54810	ucsc.edu	37	1	78591631	78591631	+	Silent	SNP	C	C	A			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr1:78591631C>A	ENST00000370759.3	+	5	974	c.781C>A	c.(781-783)Cga>Aga	p.R261R		NM_017655.4	NP_060125.4	Q8TF65	GIPC2_HUMAN	GIPC PDZ domain containing family, member 2	261						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)	20						CATGGGAATTCGAGATATTGA	0.279																																																	0																	73.0	77.0	76.0					1																	78591631		2203	4299	6502	SO:0001819	synonymous_variant	54810							AB073737	AB073737	CCDS685.1	CCDS685.1	1p31.1	2010-05-28			2010-05-28			ENSG00000137960	ENSG00000137960	ENSG00000137960	ENSG00000137960				18177	18177	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""semaphorin cytoplasmic domain associated protein 2"""	"""semaphorin cytoplasmic domain associated protein 2"""								11836570	11836570	Standard	Standard	NM_017655	NM_017655		Approved	FLJ20075, SEMCAP-2	uc001dik.3	uc001dik.3	Q8TF65	Q8TF65	OTTHUMG00000041145	OTTHUMG00000041145	ENST00000370759.3:c.781C>A	1.37:g.78591631C>A																		Q8IYD3|Q9NXS7	Silent	SNP	ENST00000370759.3	37		CCDS685.1																																																																																									0.279	GIPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098629.1			0	0	40	40	NM_017655		4			38							4	38	
IL24	11009	broad.mit.edu	37	1	207073691	207073691	+	Nonsense_Mutation	SNP	C	C	T			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr1:207073691C>T	ENST00000294984.2	+	4	566	c.292C>T	c.(292-294)Cag>Tag	p.Q98*	IL24_ENST00000491169.1_3'UTR|IL24_ENST00000391929.3_Nonsense_Mutation_p.Q99*|IL24_ENST00000367093.3_Nonsense_Mutation_p.Q99*	NM_001185156.1|NM_006850.3	NP_001172085.1|NP_006841.1	Q13007	IL24_HUMAN	interleukin 24	98					apoptotic process (GO:0006915)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|serine phosphorylation of STAT3 protein (GO:0033136)|wound healing (GO:0042060)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12	Breast(84;0.201)					GGAGGTTCTGCAGAACGTCTC	0.552																																						ENST00000367093.3											0			endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						c.(295-297)Cag>Tag	interleukin 24						63.0	60.0	61.0					1																	207073691		2203	4300	6503	SO:0001587	stop_gained	11009			apoptosis	extracellular space	cytokine activity	g.chr1:207073691C>T	U16261	U16261	CCDS1471.1, CCDS53465.1, CCDS53466.1, CCDS73021.1	CCDS1471.1, CCDS53465.1, CCDS53466.1, CCDS73021.1	1q32	2011-07-15		2001-06-29	2011-07-15		2001-06-29	ENSG00000162892	ENSG00000162892	ENSG00000162892	ENSG00000162892		"""Interleukins and interleukin receptors"""	"""Interleukins and interleukin receptors"""	11346	11346	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""melanoma differentiation association protein 7"", ""suppression of tumorigenicity 16 (melanoma differentiation)"", ""IL-4-induced secreted protein"""	"""melanoma differentiation association protein 7"", ""suppression of tumorigenicity 16 (melanoma differentiation)"", ""IL-4-induced secreted protein"""	604136	604136		ST16		ST16		8545104, 8799171	8545104, 8799171	Standard	Standard	NM_001185156	NM_001185156		Approved	mda-7, IL10B, Mob-5, C49A, FISP, IL-24	uc001heu.2	uc001heu.2	Q13007	Q13007	OTTHUMG00000036459	OTTHUMG00000036459	ENST00000294984.2:c.292C>T	1.37:g.207073691C>T	ENSP00000294984:p.Gln98*		IL24_ENST00000294984.2_Nonsense_Mutation_p.Q98*|IL24_ENST00000391929.3_Nonsense_Mutation_p.Q99*|IL24_ENST00000491169.1_3'UTR	p.Q99*	NM_001185157.1|NM_001185158.1	NP_001172086.1|NP_001172087.1	Q13007	IL24_HUMAN			4	569	+	Breast(84;0.201)		98		Q2YHE5|Q53XZ7|Q5YLN8|Q96DB0|Q96KG4	Nonsense_Mutation	SNP	ENST00000294984.2	37	c.295C>T	CCDS1471.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.781078	0.70222	.	.	ENSG00000162892	ENST00000391929;ENST00000294984;ENST00000367093	.	.	.	4.3	3.39	0.38822	4.3	3.39	0.38822	.	0.873177	0.10153	N	0.709280	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	7.7465	0.28873	0.0:0.8867:0.0:0.1133	.	.	.	.	X	99;98;99	.	ENSP00000294984:Q98X	Q	+	1	0	0	IL24	205140314	205140314	1.000000	0.71417	0.392000	0.26245	0.088000	0.18126	1.668000	0.37481	1.032000	0.39892	0.561000	0.74099	CAG		0.552	IL24-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088680.2		69.021168	-1	-1	97	97	NM_006850		23	69.039341	69.039341	25	0.479167	0	0	0	1	0	23	25	0.479167
DOPEY1	23033	broad.mit.edu	37	6	83868338	83868338	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr6:83868338C>T	ENST00000349129.2	+	36	7054	c.6794C>T	c.(6793-6795)tCa>tTa	p.S2265L	DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000237163.5_Intron|DOPEY1_ENST00000369739.3_Missense_Mutation_p.S2256L	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	2265					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GAAGATATTTCACGGTAATAT	0.284																																						ENST00000349129.2											0			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67						c.(6793-6795)tCa>tTa	dopey family member 1						55.0	56.0	55.0					6																	83868338		2199	4283	6482	SO:0001583	missense	23033			protein transport			g.chr6:83868338C>T	AK027030	AK027030	CCDS4996.1, CCDS64467.1	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097	ENSG00000083097	ENSG00000083097				21194	21194	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""KIAA1117"""	KIAA1117	"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	16301316, 16303751, 10931277	Standard	Standard	NM_015018	NM_015018		Approved	dJ202D23.2	uc011dyy.2	uc011dyy.2	Q5JWR5	Q5JWR5	OTTHUMG00000016365	OTTHUMG00000016365	ENST00000349129.2:c.6794C>T	6.37:g.83868338C>T	ENSP00000195654:p.Ser2265Leu		DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000237163.5_Intron|DOPEY1_ENST00000369739.3_Missense_Mutation_p.S2256L	p.S2265L	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	36	7054	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	2265		Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	c.6794C>T	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.493494	0.64186	.	.	ENSG00000083097	ENST00000349129	T	0.39787	1.06	5.86	5.86	0.93980	5.86	5.86	0.93980	.	0.325105	0.33534	N	0.004808	T	0.12347	0.0300	N	0.08118	0	0.80722	D	1	P;P;P	0.49090	0.919;0.666;0.666	B;B;B	0.37550	0.253;0.162;0.162	T	0.08229	-1.0732	10	0.11182	T	0.66	.	20.1735	0.98170	0.0:1.0:0.0:0.0	.	2156;2256;2265	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	L	2265	ENSP00000195654:S2265L	ENSP00000195654:S2265L	S	+	2	0	0	DOPEY1	83925057	83925057	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	7.330000	0.79181	2.937000	0.99478	0.650000	0.86243	TCA		0.284	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2		41.242544	-9	-9	26	26	NM_015018		14	41.271867	41.271867	16	0.466667	0	0	0	1	0	14	16	0.466667
BAP1	8314	broad.mit.edu	37	3	52437669	52437670	+	Frame_Shift_Ins	INS	-	-	A			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr3:52437669_52437670insA	ENST00000460680.1	-	13	1962_1963	c.1491_1492insT	c.(1489-1494)tctgagfs	p.E498fs	BAP1_ENST00000296288.5_Frame_Shift_Ins_p.E480fs	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	202					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CTGCCGATCTCAGAGGCCGTGT	0.644			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""																															GBM(101;493 1458 7992 21037 25532)	ENST00000460680.1		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	0			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(1489-1494)tctgagfs	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)																																			SO:0001589	frameshift_variant	8314			monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:52437669_52437670insA	AF045581	AF045581	CCDS2853.1	CCDS2853.1	3p21.31-p21.2	2014-09-17			2014-09-17			ENSG00000163930	ENSG00000163930	ENSG00000163930	ENSG00000163930				950	950	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603089	603089						9528852	9528852	Standard	Standard	NM_004656	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	uc003ddx.4	Q92560	Q92560	OTTHUMG00000158392	OTTHUMG00000158392	ENST00000460680.1:c.1492dupT	3.37:g.52437670_52437670dupA	ENSP00000417132:p.Glu498fs		BAP1_ENST00000296288.5_Frame_Shift_Ins_p.E480fs	p.E498fs	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	13	1962_1963	-			498		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Frame_Shift_Ins	INS	ENST00000460680.1	37	c.1491_1492insT	CCDS2853.1																																																																																									0.644	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1	.	.	4	4	26	26			11			1	0.92						11	1	0.92
TAS1R2	80834	broad.mit.edu	37	1	19180971	19180971	+	Frame_Shift_Del	DEL	G	G	-			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr1:19180971delG	ENST00000375371.3	-	3	1014	c.993delC	c.(991-993)cccfs	p.P331fs	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	331					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	AGCCCGGGATGGGCACGCTCT	0.667																																						ENST00000375371.3											0			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45						c.(991-993)cccfs	taste receptor, type 1, member 2						63.0	63.0	63.0					1																	19180971		2203	4300	6503	SO:0001589	frameshift_variant	80834			detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:19180971delG			CCDS187.1	CCDS187.1	1p36.13	2012-08-22	2003-03-07		2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002	ENSG00000179002	ENSG00000179002		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14905	14905	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606226	606226	"""G protein-coupled receptor 71"""	GPR71	"""G protein-coupled receptor 71"""	GPR71				Standard	Standard	NM_152232	NM_152232		Approved	T1R2, TR2	uc001bba.1	uc001bba.1	Q8TE23	Q8TE23	OTTHUMG00000002442	OTTHUMG00000002442	ENST00000375371.3:c.993delC	1.37:g.19180971delG	ENSP00000364520:p.Pro331fs		RP13-279N23.2_ENST00000494072.3_3'UTR	p.P331fs	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	3	1014	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	331		Q5TZ19	Frame_Shift_Del	DEL	ENST00000375371.3	37	c.993delC	CCDS187.1																																																																																									0.667	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1	.	.	2	2	26	26			2			4	0.33						2	4	0.33
PAXBP1	94104	broad.mit.edu	37	21	34117154	34117154	+	Frame_Shift_Del	DEL	T	T	-			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr21:34117154delT	ENST00000331923.4	-	13	2328	c.2139delA	c.(2137-2139)aaafs	p.K713fs	PAXBP1_ENST00000290178.4_Frame_Shift_Del_p.K713fs|PAXBP1-AS1_ENST00000440052.1_RNA	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	713					muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CATTGATTAATTTTAGTGTAA	0.313																																						ENST00000331923.4											0										c.(2137-2139)aaafs	PAX3 and PAX7 binding protein 1						109.0	121.0	117.0					21																	34117154		2203	4298	6501	SO:0001589	frameshift_variant	94104						g.chr21:34117154delT	AF231920	AF231920	CCDS13619.1, CCDS33541.1	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086	ENSG00000159086	ENSG00000159086				13579	13579	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 105"", ""GC-rich sequence DNA-binding factor candidate"""	"""functional spliceosome-associated protein 105"", ""GC-rich sequence DNA-binding factor candidate"""			"""chromosome 21 open reading frame 66"", ""GC-rich sequence DNA-binding factor 1"""	C21orf66, GCFC1	"""chromosome 21 open reading frame 66"", ""GC-rich sequence DNA-binding factor 1"""	C21orf66, GCFC1		11707072, 22862948	11707072, 22862948	Standard	Standard	NM_016631	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	uc002yqn.3	Q9Y5B6	Q9Y5B6	OTTHUMG00000064980	OTTHUMG00000064980	ENST00000331923.4:c.2139delA	21.37:g.34117154delT	ENSP00000328992:p.Lys713fs		PAXBP1_ENST00000290178.4_Frame_Shift_Del_p.K713fs	p.K713fs	NM_016631.3	NP_057715.2					13	2328	-					D3DSE7|Q96DU8|Q9NYQ0	Frame_Shift_Del	DEL	ENST00000331923.4	37	c.2139delA	CCDS13619.1																																																																																									0.313	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139563.1	.	.	-9	-9	133	133	NM_013329		38			60	0.39						38	60	0.39
MYH11	4629	broad.mit.edu	37	16	15814858	15814860	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr16:15814858_15814860delCTC	ENST00000300036.5	-	33	4736_4738	c.4627_4629delGAG	c.(4627-4629)gagdel	p.E1543del	MYH11_ENST00000452625.2_In_Frame_Del_p.E1550del|NDE1_ENST00000342673.5_Intron|NDE1_ENST00000396354.1_Intron|MYH11_ENST00000576790.2_In_Frame_Del_p.E1543del|NDE1_ENST00000396355.1_Intron|MYH11_ENST00000396324.3_In_Frame_Del_p.E1550del	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1543					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GCGTCTTCATCTCCTCCATCTGG	0.611			T	CBFB	AML																																	ENST00000452625.2		Dom	yes		16	16p13.13-p13.12	4629	"""myosin, heavy polypeptide 11, smooth muscle"""		L	0			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						c.(4648-4650)gagdel	myosin, heavy chain 11, smooth muscle																																			SO:0001651	inframe_deletion	4629			axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15814858_15814860delCTC	X69292	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392	ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	"""Myosins / Myosin superfamily : Class II"""	7569	7569	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			160745	160745	"""myosin, heavy polypeptide 11, smooth muscle"""		"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	7684189	Standard	Standard	NM_001040113	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	uc002ddx.3	P35749	P35749	OTTHUMG00000129935	OTTHUMG00000129935	ENST00000300036.5:c.4627_4629delGAG	16.37:g.15814861_15814863delCTC	ENSP00000300036:p.Glu1543del		NDE1_ENST00000342673.5_Intron|MYH11_ENST00000576790.2_In_Frame_Del_p.E1543del|NDE1_ENST00000396355.1_Intron|MYH11_ENST00000396324.3_In_Frame_Del_p.E1550del|MYH11_ENST00000300036.5_In_Frame_Del_p.E1543del|NDE1_ENST00000396354.1_Intron	p.E1550del	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN			34	4735_4737	-			1543		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	In_Frame_Del	DEL	ENST00000300036.5	37	c.4648_4650delGAG	CCDS10565.1																																																																																									0.611	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	.	.	-6	-6	116	116	NM_001040113		26			65	0.29						26	65	0.29
