#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
NBPF1	55672	broad.mit.edu	37	1	16893838	16893838	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr1:16893838C>T	ENST00000430580.2	-	25	3562	c.2675G>A	c.(2674-2676)aGg>aAg	p.R892K	NBPF1_ENST00000432949.1_Silent_p.Q295Q|NBPF1_ENST00000420031.2_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	892	NBPF 5. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CAGCAGCTCCCTGCTGAGCCT	0.473																																						uc009vos.1																			0					0						c.(2899-2901)AGG>AAG		hypothetical protein LOC55672							259.0	237.0	244.0					1																	16893838		2202	4280	6482	SO:0001583	missense	55672					cytoplasm		g.chr1:16893838C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2675G>A	1.37:g.16893838C>T	ENSP00000474456:p.Arg892Lys					NBPF1_uc009vot.1_Missense_Mutation_p.R350K|NBPF1_uc001ayz.1_Missense_Mutation_p.R350K|NBPF1_uc010oce.1_Missense_Mutation_p.R621K	p.R967K	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	26	3788	-			967			NBPF 6.		Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.2900G>A																																																																																					0.473	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	
PLK3	1263	broad.mit.edu	37	1	45271002	45271002	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr1:45271002T>C	ENST00000372201.4	+	14	1939	c.1700T>C	c.(1699-1701)gTc>gCc	p.V567A	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	567	POLO box 2. {ECO:0000255|PROSITE- ProRule:PRU00154}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic microtubule organization (GO:0031122)|endomitotic cell cycle (GO:0007113)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi disassembly (GO:0090166)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G1/S transition checkpoint (GO:0044819)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell division (GO:0051302)|regulation of cytokinesis (GO:0032465)|response to osmotic stress (GO:0006970)|response to radiation (GO:0009314)|response to reactive oxygen species (GO:0000302)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi stack (GO:0005795)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CTGCAGTGGGTCAAGACGGAT	0.602																																						uc001cmn.2																			0					0						c.(1699-1701)GTC>GCC		polo-like kinase 3							185.0	144.0	158.0					1																	45271002		2203	4300	6503	SO:0001583	missense	1263					membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:45271002T>C	AJ293866	CCDS515.1	1p34.1	2013-01-18	2010-06-24	2004-01-28	ENSG00000173846	ENSG00000173846			2154	protein-coding gene	gene with protein product		602913	"""cytokine-inducible kinase"", ""polo-like kinase 3 (Drosophila)"""	CNK		8702627	Standard	NM_004073		Approved	FNK, PRK	uc001cmn.3	Q9H4B4	OTTHUMG00000008491	ENST00000372201.4:c.1700T>C	1.37:g.45271002T>C	ENSP00000361275:p.Val567Ala					PLK3_uc001cmo.2_RNA	p.V567A	NM_004073	NP_004064	Q9H4B4	PLK3_HUMAN			14	1800	+	Acute lymphoblastic leukemia(166;0.155)		567			POLO box 2.		Q15767|Q5JR99|Q96CV1	Missense_Mutation	SNP	ENST00000372201.4	37	c.1700T>C	CCDS515.1	.	.	.	.	.	.	.	.	.	.	T	17.72	3.459282	0.63401	.	.	ENSG00000173846	ENST00000372201;ENST00000543983	T	0.32272	1.46	5.83	4.71	0.59529	POLO box duplicated domain (1);	.	.	.	.	T	0.28962	0.0719	L	0.51422	1.61	0.58432	D	0.999992	B	0.24258	0.1	B	0.22152	0.038	T	0.05835	-1.0861	9	0.62326	D	0.03	-21.3511	10.8624	0.46833	0.0:0.0732:0.0:0.9268	.	567	Q9H4B4	PLK3_HUMAN	A	567;542	ENSP00000361275:V567A	ENSP00000361275:V567A	V	+	2	0	PLK3	45043589	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.111000	0.64628	1.040000	0.40099	0.533000	0.62120	GTC		0.602	PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023429.1	NM_004073	
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						uc001end.3																			4	Substitution - coding silent(4)		prostate(3)|kidney(1)		0						c.(10558-10560)AAA>AAG		hypothetical protein LOC100132406																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron	p.K3520K	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	85	10595	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10560A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703	
PIK3C2B	5287	broad.mit.edu	37	1	204438072	204438072	+	Frame_Shift_Del	DEL	G	G	-	rs115574296		TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr1:204438072delG	ENST00000367187.3	-	3	1415	c.859delC	c.(859-861)cgcfs	p.R287fs	PIK3C2B_ENST00000424712.2_Frame_Shift_Del_p.R287fs	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	287	Interaction with GRB2.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)	p.R287fs*92(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GCATAGGTGCGGGGGGGCACC	0.622																																						uc001haw.2																			1	Deletion - Frameshift(1)		lung(1)	lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7						c.(859-861)CGCfs		phosphoinositide-3-kinase, class 2 beta							57.0	65.0	62.0					1																	204438072		2203	4300	6503	SO:0001589	frameshift_variant	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204438072delG	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.859delC	1.37:g.204438072delG	ENSP00000356155:p.Arg287fs					PIK3C2B_uc010pqv.1_Frame_Shift_Del_p.R287fs|PIK3C2B_uc001hax.1_Frame_Shift_Del_p.R287fs|PIK3C2B_uc009xbd.1_RNA	p.R287fs	NM_002646	NP_002637	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		3	1338	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		287			Interaction with GRB2.		O95666|Q5SW99	Frame_Shift_Del	DEL	ENST00000367187.3	37	c.859delC	CCDS1446.1																																																																																				0.622	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646	
LGALS8	3964	broad.mit.edu	37	1	236700824	236700824	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr1:236700824G>A	ENST00000366584.4	+	3	639	c.73G>A	c.(73-75)Gat>Aat	p.D25N	LGALS8_ENST00000527974.1_Missense_Mutation_p.D25N|RP11-385F5.5_ENST00000608547.1_RNA|LGALS8_ENST00000323938.6_Missense_Mutation_p.D25N|LGALS8_ENST00000450372.2_Missense_Mutation_p.D25N|LGALS8_ENST00000526589.1_Missense_Mutation_p.D25N|LGALS8_ENST00000416919.2_Missense_Mutation_p.D25N|LGALS8_ENST00000341872.6_Missense_Mutation_p.D25N|LGALS8_ENST00000525042.1_Missense_Mutation_p.D25N|LGALS8_ENST00000352231.2_Missense_Mutation_p.D25N|RP11-385F5.4_ENST00000433131.1_RNA|LGALS8_ENST00000526634.1_Missense_Mutation_p.D25N	NM_201544.2	NP_963838.1	O00214	LEG8_HUMAN	lectin, galactoside-binding, soluble, 8	25	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.				plasma cell differentiation (GO:0002317)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CACCATTCCTGATCAGCTGGA	0.393																																						uc001hxz.1																			0				ovary(1)	1						c.(73-75)GAT>AAT		galectin-8 isoform b							117.0	97.0	104.0					1																	236700824		2203	4300	6503	SO:0001583	missense	3964					cytoplasm|extracellular space	sugar binding	g.chr1:236700824G>A	X91790	CCDS1611.1, CCDS1612.1	1q43	2011-08-04	2008-07-25		ENSG00000116977	ENSG00000116977		"""Lectins, galactoside-binding"""	6569	protein-coding gene	gene with protein product	"""galectin 8"""	606099				7852431, 8692978	Standard	NM_201545		Approved	PCTA-1	uc001hxy.2	O00214	OTTHUMG00000039953	ENST00000366584.4:c.73G>A	1.37:g.236700824G>A	ENSP00000355543:p.Asp25Asn					LGALS8_uc001hxw.1_Missense_Mutation_p.D25N|LGALS8_uc001hxy.1_Missense_Mutation_p.D25N|LGALS8_uc009xgg.1_RNA|LGALS8_uc001hya.1_Missense_Mutation_p.D25N|LGALS8_uc001hyb.1_Missense_Mutation_p.D25N|LGALS8_uc001hyc.1_Missense_Mutation_p.D25N	p.D25N	NM_201543	NP_963837	O00214	LEG8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		4	454	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	25			Galectin 1.		O15215|Q5T3P5|Q5T3Q4|Q8TEV1|Q96B92|Q9BXC8|Q9H584|Q9H585|Q9UEZ6|Q9UP32|Q9UP33|Q9UP34	Missense_Mutation	SNP	ENST00000366584.4	37	c.73G>A	CCDS1612.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.438188	0.62955	.	.	ENSG00000116977	ENST00000481485;ENST00000454943;ENST00000527974;ENST00000430527;ENST00000352231;ENST00000406509;ENST00000526589;ENST00000529489;ENST00000341872;ENST00000450372;ENST00000366584;ENST00000238181;ENST00000356238;ENST00000416919;ENST00000323938;ENST00000526634;ENST00000525042	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.11169	3.48;3.48;3.48;3.48;3.48;3.48;3.48;2.8;3.48;3.48;3.48;3.48;3.48;2.8;3.48;3.48	5.45	5.45	0.79879	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.167498	0.51477	D	0.000095	T	0.07954	0.0199	N	0.05510	-0.035	0.33947	D	0.644011	B;B;B	0.13145	0.007;0.0;0.001	B;B;B	0.06405	0.002;0.002;0.002	T	0.18587	-1.0332	10	0.49607	T	0.09	-4.2483	19.4714	0.94965	0.0:0.0:1.0:0.0	.	25;25;25	F6V2D4;O00214;O00214-2	.;LEG8_HUMAN;.	N	25	ENSP00000435632:D25N;ENSP00000405504:D25N;ENSP00000431398:D25N;ENSP00000398630:D25N;ENSP00000309576:D25N;ENSP00000385999:D25N;ENSP00000435460:D25N;ENSP00000437007:D25N;ENSP00000342139:D25N;ENSP00000408657:D25N;ENSP00000355543:D25N;ENSP00000238181:D25N;ENSP00000410843:D25N;ENSP00000434860:D25N;ENSP00000437040:D25N;ENSP00000431884:D25N	ENSP00000238181:D25N	D	+	1	0	LGALS8	234767447	1.000000	0.71417	1.000000	0.80357	0.477000	0.33069	4.606000	0.61126	2.837000	0.97791	0.591000	0.81541	GAT		0.393	LGALS8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000096365.2	NM_006499	
APBB1IP	54518	broad.mit.edu	37	10	26849669	26849672	+	Frame_Shift_Del	DEL	CTCT	CTCT	-	rs145279460		TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr10:26849669_26849672delCTCT	ENST00000376236.4	+	13	1720_1723	c.1265_1268delCTCT	c.(1264-1269)actctcfs	p.TL422fs		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	422					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						TATGGGAAGACTCTCTATGATAAC	0.461																																						uc001iss.2																			0				lung(4)|skin(2)|central_nervous_system(1)	7						c.(1264-1269)ACTCTCfs		amyloid beta (A4) precursor protein-binding,																																				SO:0001589	frameshift_variant	54518				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium		g.chr10:26849669_26849672delCTCT	AB085852	CCDS31167.1	10p12.1	2013-01-10			ENSG00000077420	ENSG00000077420		"""Pleckstrin homology (PH) domain containing"""	17379	protein-coding gene	gene with protein product	"""Rap1-GTP-interacting adaptor molecule"""	609036				9407065	Standard	NM_019043		Approved	INAG1, RIAM	uc001iss.3	Q7Z5R6	OTTHUMG00000017841	ENST00000376236.4:c.1265_1268delCTCT	10.37:g.26849669_26849672delCTCT	ENSP00000365411:p.Thr422fs						p.T422fs	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN			13	1586_1589	+			422_423	L -> F (in Ref. 1; BAC41256).				Q8IWS8|Q8IYL7|Q8IZZ7	Frame_Shift_Del	DEL	ENST00000376236.4	37	c.1265_1268delCTCT	CCDS31167.1																																																																																				0.461	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047270.1	NM_019043	
SYT15	83849	broad.mit.edu	37	10	46965845	46965845	+	Missense_Mutation	SNP	G	G	T			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr10:46965845G>T	ENST00000374321.4	-	5	758	c.692C>A	c.(691-693)tCc>tAc	p.S231Y	SYT15_ENST00000374323.4_Missense_Mutation_p.S284Y|SYT15_ENST00000374325.3_Missense_Mutation_p.S231Y|SYT15_ENST00000503753.1_Missense_Mutation_p.S231Y|RP11-38L15.3_ENST00000506914.1_RNA	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	231	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						GTGGTAGACGGAGAACTTCAG	0.622																																					Ovarian(57;1152 1428 19651 37745)	uc001jea.2																			0					0						c.(691-693)TCC>TAC		synaptotagmin XV isoform a							45.0	49.0	48.0					10																	46965845		2120	4248	6368	SO:0001583	missense	83849					integral to membrane|plasma membrane		g.chr10:46965845G>T	AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"""Synaptotagmins"""	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.692C>A	10.37:g.46965845G>T	ENSP00000363441:p.Ser231Tyr					SYT15_uc001jdz.2_Missense_Mutation_p.S231Y|SYT15_uc001jeb.2_Missense_Mutation_p.S109Y|SYT15_uc010qfp.1_RNA	p.S231Y	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN			5	845	-			231			Cytoplasmic (Potential).|C2 1.		A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	Missense_Mutation	SNP	ENST00000374321.4	37	c.692C>A	CCDS44376.1	.	.	.	.	.	.	.	.	.	.	.	15.53	2.861548	0.51482	.	.	ENSG00000204176	ENST00000416127;ENST00000374328;ENST00000374325;ENST00000503753;ENST00000374330;ENST00000374323;ENST00000374321;ENST00000512997	T;T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46;-0.46	5.13	5.13	0.70059	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.141246	0.51477	D	0.000086	D	0.83083	0.5177	M	0.85197	2.74	0.39970	D	0.974787	D;D	0.76494	0.999;0.999	D;D	0.74348	0.982;0.983	D	0.85787	0.1365	10	0.54805	T	0.06	.	16.4476	0.83942	0.0:0.0:1.0:0.0	.	231;231	Q9BQS2;Q9BQS2-2	SYT15_HUMAN;.	Y	231;21;231;231;70;284;231;115	ENSP00000363448:S21Y;ENSP00000363445:S231Y;ENSP00000427607:S231Y;ENSP00000363443:S284Y;ENSP00000363441:S231Y;ENSP00000424803:S115Y	ENSP00000363441:S231Y	S	-	2	0	SYT15	46385851	0.981000	0.34729	0.660000	0.29694	0.280000	0.26924	1.916000	0.39986	2.550000	0.86006	0.561000	0.74099	TCC		0.622	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	NM_031912	
PTEN	5728	broad.mit.edu	37	10	89692911	89692911	+	Missense_Mutation	SNP	G	G	A	rs121909241		TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr10:89692911G>A	ENST00000371953.3	+	5	1752	c.395G>A	c.(394-396)gGt>gAt	p.G132D		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	132	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		G -> V (in one patient with clinical findings suggesting hamartoma tumor syndrome). {ECO:0000269|PubMed:16752378}.		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.?(5)|p.R55fs*1(5)|p.G132D(4)|p.Y27fs*1(2)|p.G132V(1)|p.A121_F145del(1)|p.R130fs*2(1)|p.T131fs*42(1)|p.F56fs*2(1)|p.K128fs*47(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)		GGACGAACTGGTGTAATGATA	0.398		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)																												uc001kfb.2		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		59	Whole gene deletion(37)|Deletion - Frameshift(11)|Substitution - Missense(5)|Unknown(5)|Deletion - In frame(1)	p.G132D(5)|p.R55fs*1(4)|p.?(2)|p.G132S(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.G132V(1)|p.K128fs*47(1)|p.A121_F145del(1)|p.R130fs*2(1)|p.G132fs*2(1)|p.G132R(1)|p.T131fs*42(1)|p.F56fs*2(1)	prostate(16)|central_nervous_system(14)|skin(6)|endometrium(5)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|ovary(4)|breast(3)|soft_tissue(1)|urinary_tract(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	GRCh37	CM045431|CM063078|CM074468	PTEN	M	rs121909241	c.(394-396)GGT>GAT		phosphatase and tensin homolog							137.0	127.0	130.0					10																	89692911		2203	4300	6503	SO:0001583	missense	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|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.chr10:89692911G>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.395G>A	10.37:g.89692911G>A	ENSP00000361021:p.Gly132Asp	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.G132D	NM_000314	NP_000305	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)	6	1426	+		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)	132		G -> V (in one patient with clinical findings suggesting hamartoma tumor syndrome).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.395G>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	31	5.103845	0.94245	.	.	ENSG00000171862	ENST00000371953	D	0.99563	-6.17	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	H	0.99026	4.405	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96473	0.9350	9	.	.	.	-10.5526	18.7776	0.91918	0.0:0.0:1.0:0.0	.	132	P60484	PTEN_HUMAN	D	132	ENSP00000361021:G132D	.	G	+	2	0	PTEN	89682891	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.429000	0.97481	2.411000	0.81874	0.655000	0.94253	GGT		0.398	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
PSD	5662	broad.mit.edu	37	10	104171572	104171572	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr10:104171572A>G	ENST00000020673.5	-	8	2360	c.1834T>C	c.(1834-1836)Ttt>Ctt	p.F612L	PSD_ENST00000406432.1_Missense_Mutation_p.F612L	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	612	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		TCCTTCAGAAACACCCTGGAG	0.582																																						uc001kvg.1																			0				breast(2)|urinary_tract(1)	3						c.(1834-1836)TTT>CTT		pleckstrin and Sec7 domain containing							42.0	32.0	36.0					10																	104171572		2202	4300	6502	SO:0001583	missense	5662				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr10:104171572A>G	X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"""Pleckstrin homology (PH) domain containing"""	9507	protein-coding gene	gene with protein product		602327	"""pleckstrin and Sec7 domain protein"""			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.1834T>C	10.37:g.104171572A>G	ENSP00000020673:p.Phe612Leu					PSD_uc001kvf.1_5'Flank|PSD_uc001kvh.1_Missense_Mutation_p.F233L|PSD_uc009xxd.1_Missense_Mutation_p.F612L	p.F612L	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN		Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)	8	2361	-			612			SEC7.		B1AKX7|D3DR87|Q15673|Q8IVG0	Missense_Mutation	SNP	ENST00000020673.5	37	c.1834T>C	CCDS31272.1	.	.	.	.	.	.	.	.	.	.	A	29.7	5.031202	0.93575	.	.	ENSG00000059915	ENST00000020673;ENST00000541902;ENST00000406432	T;T	0.55234	0.53;0.53	5.28	5.28	0.74379	SEC7-like, alpha orthogonal bundle (1);SEC7-like (4);	0.000000	0.85682	D	0.000000	T	0.64327	0.2588	L	0.59912	1.85	0.46521	D	0.999089	P	0.46578	0.88	P	0.55303	0.773	T	0.67150	-0.5743	10	0.62326	D	0.03	.	15.2116	0.73227	1.0:0.0:0.0:0.0	.	612	A5PKW4	PSD1_HUMAN	L	612;515;612	ENSP00000020673:F612L;ENSP00000384830:F612L	ENSP00000020673:F612L	F	-	1	0	PSD	104161562	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.437000	0.80417	2.012000	0.59069	0.454000	0.30748	TTT		0.582	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2		
OR8K3	219473	broad.mit.edu	37	11	56086192	56086192	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr11:56086192C>T	ENST00000312711.1	+	1	410	c.410C>T	c.(409-411)tCa>tTa	p.S137L		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	137						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S137*(1)		central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					GTAATCATGTCACGAAGGGTA	0.413																																						uc010rjf.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(409-411)TCA>TTA		olfactory receptor, family 8, subfamily K,							124.0	118.0	120.0					11																	56086192		2201	4296	6497	SO:0001583	missense	219473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56086192C>T	AB065541	CCDS31527.1	11q11	2012-08-09			ENSG00000181689	ENSG00000181689		"""GPCR / Class A : Olfactory receptors"""	15313	protein-coding gene	gene with protein product							Standard	NM_001005202		Approved		uc010rjf.2	Q8NH51	OTTHUMG00000166855	ENST00000312711.1:c.410C>T	11.37:g.56086192C>T	ENSP00000323555:p.Ser137Leu						p.S137L	NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN			1	410	+	Esophageal squamous(21;0.00448)		137			Cytoplasmic (Potential).		Q6IFC4	Missense_Mutation	SNP	ENST00000312711.1	37	c.410C>T	CCDS31527.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.466103	0.43839	.	.	ENSG00000181689	ENST00000312711	T	0.41400	1.0	4.56	4.56	0.56223	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000122	T	0.70029	0.3177	M	0.93978	3.48	0.29848	N	0.828702	D	0.58268	0.982	D	0.65010	0.931	T	0.73636	-0.3920	10	0.87932	D	0	.	13.1294	0.59373	0.0:0.7222:0.2778:0.0	.	137	Q8NH51	OR8K3_HUMAN	L	137	ENSP00000323555:S137L	ENSP00000323555:S137L	S	+	2	0	OR8K3	55842768	0.002000	0.14202	0.947000	0.38551	0.012000	0.07955	0.489000	0.22387	2.518000	0.84900	0.573000	0.79308	TCA		0.413	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391602.1	NM_001005202	
OR5B3	441608	broad.mit.edu	37	11	58170525	58170525	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr11:58170525G>A	ENST00000309403.2	-	1	357	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GCTGCATAGCGGTCATAGGCC	0.468																																						uc010rkf.1																			0					0						c.(358-360)CGC>TGC		olfactory receptor, family 5, subfamily B,							132.0	117.0	122.0					11																	58170525		2201	4295	6496	SO:0001583	missense	441608				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58170525G>A	AB065545	CCDS31549.1	11q12.1	2012-08-09			ENSG00000172769	ENSG00000172769		"""GPCR / Class A : Olfactory receptors"""	8324	protein-coding gene	gene with protein product				OR5B13			Standard	NM_001005469		Approved	OST129	uc010rkf.2	Q8NH48	OTTHUMG00000167516	ENST00000309403.2:c.358C>T	11.37:g.58170525G>A	ENSP00000308270:p.Arg120Cys						p.R120C	NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN			1	358	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	120			Cytoplasmic (Potential).		Q6IEV6	Missense_Mutation	SNP	ENST00000309403.2	37	c.358C>T	CCDS31549.1	.	.	.	.	.	.	.	.	.	.	g	15.22	2.767909	0.49680	.	.	ENSG00000172769	ENST00000309403	T	0.77358	-1.09	3.96	3.03	0.35002	GPCR, rhodopsin-like superfamily (1);	0.136459	0.34156	N	0.004202	T	0.81302	0.4794	M	0.87617	2.895	0.43846	D	0.996438	D	0.55605	0.972	P	0.46419	0.516	D	0.83524	0.0087	10	0.72032	D	0.01	-27.9791	10.4958	0.44777	0.099:0.0:0.901:0.0	.	120	Q8NH48	OR5B3_HUMAN	C	120	ENSP00000308270:R120C	ENSP00000308270:R120C	R	-	1	0	OR5B3	57927101	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	2.271000	0.43364	1.003000	0.39130	0.585000	0.79938	CGC		0.468	OR5B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394886.1	NM_001005469	
CLPB	81570	broad.mit.edu	37	11	72114088	72114088	+	Nonsense_Mutation	SNP	G	G	C			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr11:72114088G>C	ENST00000294053.3	-	3	637	c.464C>G	c.(463-465)tCa>tGa	p.S155*	CLPB_ENST00000445069.2_Nonsense_Mutation_p.S51*|CLPB_ENST00000437826.2_Nonsense_Mutation_p.S110*|CLPB_ENST00000538039.1_Nonsense_Mutation_p.S155*|CLPB_ENST00000340729.5_Intron|CLPB_ENST00000543042.1_Intron	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	155					cellular response to heat (GO:0034605)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						TGCACCTTCTGACAACAGCCT	0.458																																						uc001osj.2																			0				pancreas(1)	1						c.(463-465)TCA>TGA		caseinolytic peptidase B							145.0	116.0	126.0					11																	72114088		2200	4293	6493	SO:0001587	stop_gained	81570				cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr11:72114088G>C	BC006404	CCDS8215.1, CCDS58152.1, CCDS58153.1, CCDS58154.1	11q13.4	2013-01-10			ENSG00000162129	ENSG00000162129		"""Ankyrin repeat domain containing"""	30664	protein-coding gene	gene with protein product	"""suppressor of potassium transport defect 3"""					11230166, 7835694	Standard	NM_030813		Approved	HSP78, SKD3, FLJ13152	uc010rqy.3	Q9H078	OTTHUMG00000167902	ENST00000294053.3:c.464C>G	11.37:g.72114088G>C	ENSP00000294053:p.Ser155*					CLPB_uc010rqx.1_Nonsense_Mutation_p.S110*|CLPB_uc010rqy.1_Intron|CLPB_uc001osk.2_Nonsense_Mutation_p.S155*|CLPB_uc009ytg.2_RNA|CLPB_uc010rqz.1_Intron	p.S155*	NM_030813	NP_110440	Q9H078	CLPB_HUMAN			3	514	-			155			ANK 1.		B4DXJ7|B4DXP7|E7EWN6|F8W7P6|Q8ND11|Q9H8Y0	Nonsense_Mutation	SNP	ENST00000294053.3	37	c.464C>G	CCDS8215.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.278887	0.80692	.	.	ENSG00000162129	ENST00000294053;ENST00000538039;ENST00000535990;ENST00000437826;ENST00000544683;ENST00000539148	.	.	.	5.18	5.18	0.71444	.	0.208574	0.41605	D	0.000853	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-6.8543	11.7342	0.51755	0.0:0.0:0.8239:0.1761	.	.	.	.	X	155;155;160;110;9;9	.	ENSP00000294053:S155X	S	-	2	0	CLPB	71791736	0.158000	0.22850	1.000000	0.80357	0.572000	0.35998	0.808000	0.27154	2.529000	0.85273	0.000000	0.15137	TCA		0.458	CLPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396889.1	NM_030813	
MMP1	4312	broad.mit.edu	37	11	102665949	102665949	+	Missense_Mutation	SNP	A	A	T			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr11:102665949A>T	ENST00000315274.6	-	6	922	c.855T>A	c.(853-855)gaT>gaA	p.D285E	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	285					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|proteolysis (GO:0006508)|viral process (GO:0016032)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	Marimastat(DB00786)	TAGTTATAGCATCAAAGGTTA	0.403																																						uc001phi.2																			0				skin(2)|ovary(1)|lung(1)	4						c.(853-855)GAT>GAA		matrix metalloproteinase 1 isoform 1							172.0	152.0	159.0					11																	102665949		2203	4299	6502	SO:0001583	missense	4312				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102665949A>T	X54925	CCDS8322.1	11q21-q22	2014-01-30	2005-08-08		ENSG00000196611	ENSG00000196611	3.4.24.7	"""Endogenous ligands"""	7155	protein-coding gene	gene with protein product		120353	"""matrix metalloproteinase 1 (interstitial collagenase)"""	CLG			Standard	NM_002421		Approved		uc001phi.2	P03956	OTTHUMG00000048192	ENST00000315274.6:c.855T>A	11.37:g.102665949A>T	ENSP00000322788:p.Asp285Glu					uc001phh.1_RNA|MMP1_uc010ruv.1_Missense_Mutation_p.D219E	p.D285E	NM_002421	NP_002412	P03956	MMP1_HUMAN	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	6	998	-	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	285			Hemopexin-like 1.	Calcium 4; via carbonyl oxygen (By similarity).	P08156	Missense_Mutation	SNP	ENST00000315274.6	37	c.855T>A	CCDS8322.1	.	.	.	.	.	.	.	.	.	.	a	15.15	2.747370	0.49257	.	.	ENSG00000196611	ENST00000315274	T	0.08370	3.1	5.73	2.05	0.26809	Hemopexin/matrixin (2);	0.084010	0.51477	D	0.000100	T	0.36608	0.0973	H	0.95645	3.7	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.35076	-0.9803	10	0.87932	D	0	.	10.0304	0.42096	0.806:0.0:0.194:0.0	.	285	P03956	MMP1_HUMAN	E	285	ENSP00000322788:D285E	ENSP00000322788:D285E	D	-	3	2	MMP1	102171159	1.000000	0.71417	0.997000	0.53966	0.008000	0.06430	3.250000	0.51445	0.146000	0.19002	-0.256000	0.11100	GAT		0.403	MMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109632.1	NM_002421	
DSCAML1	57453	broad.mit.edu	37	11	117329509	117329509	+	Missense_Mutation	SNP	C	C	T	rs544850403		TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr11:117329509C>T	ENST00000321322.6	-	19	3710	c.3709G>A	c.(3709-3711)Gta>Ata	p.V1237I	DSCAML1_ENST00000527706.1_Missense_Mutation_p.V967I	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1177	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CTGCTGCGTACGCCGTCCCCA	0.652													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19138	0.0		0.0	False		,,,				2504	0.0					uc001prh.1																			0				ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(3709-3711)GTA>ATA		Down syndrome cell adhesion molecule like 1							100.0	80.0	87.0					11																	117329509		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117329509C>T		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.3709G>A	11.37:g.117329509C>T	ENSP00000315465:p.Val1237Ile						p.V1237I	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	19	3711	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1177			Fibronectin type-III 3.|Extracellular (Potential).		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.3709G>A	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385182	0.82792	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.57436	0.4;0.4	4.22	4.22	0.49857	Fibronectin, type III (3);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72382	0.3453	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.76337	-0.2996	9	0.59425	D	0.04	.	17.1572	0.86794	0.0:1.0:0.0:0.0	.	1177	Q8TD84	DSCL1_HUMAN	I	967;1237;944	ENSP00000434335:V967I;ENSP00000315465:V1237I	ENSP00000315465:V1237I	V	-	1	0	DSCAML1	116834719	1.000000	0.71417	0.970000	0.41538	0.682000	0.39822	7.640000	0.83355	2.373000	0.80994	0.561000	0.74099	GTA		0.652	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693	
KIAA1467	57613	broad.mit.edu	37	12	13215874	13215874	+	Missense_Mutation	SNP	C	C	G	rs373297852		TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr12:13215874C>G	ENST00000197268.8	+	5	937	c.817C>G	c.(817-819)Cga>Gga	p.R273G		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	273						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		AGACGGTGTTCGAGACCTTGT	0.448																																						uc001rbi.2																			0				central_nervous_system(2)|skin(1)	3						c.(817-819)CGA>GGA		hypothetical protein LOC57613		C	GLY/ARG	2,4404	4.2+/-10.8	0,2,2201	308.0	297.0	301.0		817	-5.2	0.0	12		301	0,8600		0,0,4300	no	missense	KIAA1467	NM_020853.1	125	0,2,6501	GG,GC,CC		0.0,0.0454,0.0154	benign	273/623	13215874	2,13004	2203	4300	6503	SO:0001583	missense	57613					integral to membrane		g.chr12:13215874C>G	AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.817C>G	12.37:g.13215874C>G	ENSP00000197268:p.Arg273Gly					KIAA1467_uc009zhx.1_RNA	p.R273G	NM_020853	NP_065904	A2RU67	K1467_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.157)	5	840	+		Prostate(47;0.184)	273					Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Missense_Mutation	SNP	ENST00000197268.8	37	c.817C>G	CCDS31750.1	.	.	.	.	.	.	.	.	.	.	C	6.283	0.420308	0.11928	4.54E-4	0.0	ENSG00000084444	ENST00000197268;ENST00000537625	T	0.22336	1.96	5.57	-5.25	0.02781	.	0.113441	0.64402	D	0.000010	T	0.13329	0.0323	L	0.36672	1.1	0.22873	N	0.998629	B	0.09022	0.002	B	0.12156	0.007	T	0.20009	-1.0288	10	0.22706	T	0.39	-20.6511	13.9977	0.64411	0.3024:0.6387:0.0589:0.0	.	273	A2RU67	K1467_HUMAN	G	273;49	ENSP00000437974:R49G	ENSP00000197268:R273G	R	+	1	2	KIAA1467	13107141	0.016000	0.18221	0.006000	0.13384	0.076000	0.17211	-0.002000	0.12924	-0.988000	0.03489	-0.457000	0.05445	CGA		0.448	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401007.1	NM_020853	
PIK3C2G	5288	broad.mit.edu	37	12	18435551	18435551	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr12:18435551A>G	ENST00000266497.5	+	1	574	c.536A>G	c.(535-537)aAt>aGt	p.N179S	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.N179S|PIK3C2G_ENST00000433979.1_Missense_Mutation_p.N179S|RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000535651.1_Missense_Mutation_p.N179S			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	179					chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CCTCCAACAAATTCATCCTTC	0.343																																						uc001rdt.2																			0				lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2)	21						c.(535-537)AAT>AGT		phosphoinositide-3-kinase, class 2 gamma							94.0	92.0	93.0					12																	18435551		1847	4095	5942	SO:0001583	missense	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18435551A>G	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.536A>G	12.37:g.18435551A>G	ENSP00000266497:p.Asn179Ser					PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Missense_Mutation_p.N179S|PIK3C2G_uc010sic.1_5'UTR	p.N179S	NM_004570	NP_004561	O75747	P3C2G_HUMAN			2	652	+		Hepatocellular(102;0.194)	179					A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	37	c.536A>G	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	A	5.340	0.247987	0.10130	.	.	ENSG00000139144	ENST00000535651;ENST00000433979;ENST00000266497;ENST00000538779	T;T;T;T	0.59906	1.56;0.24;0.24;0.23	4.52	0.907	0.19321	.	3.923480	0.00397	N	0.000045	T	0.38799	0.1054	N	0.14661	0.345	0.09310	N	1	B;B	0.20368	0.044;0.026	B;B	0.20955	0.032;0.014	T	0.14117	-1.0484	10	0.21540	T	0.41	-0.0407	3.7132	0.08428	0.6123:0.1911:0.1966:0.0	.	179;179	F5H369;O75747	.;P3C2G_HUMAN	S	179	ENSP00000443850:N179S;ENSP00000404845:N179S;ENSP00000266497:N179S;ENSP00000445381:N179S	ENSP00000266497:N179S	N	+	2	0	PIK3C2G	18326818	0.021000	0.18746	0.001000	0.08648	0.001000	0.01503	0.586000	0.23894	0.149000	0.19098	0.533000	0.62120	AAT		0.343	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570	
TMEM132D	121256	broad.mit.edu	37	12	129559351	129559351	+	Missense_Mutation	SNP	G	G	A	rs542438666		TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr12:129559351G>A	ENST00000422113.2	-	9	2695	c.2369C>T	c.(2368-2370)aCg>aTg	p.T790M	TMEM132D_ENST00000389441.4_Missense_Mutation_p.T328M	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	790					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GATGTTTGCCGTTCCAACAGC	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		21901	0.0		0.0	False		,,,				2504	0.001					uc009zyl.1																			0				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(2368-2370)ACG>ATG		transmembrane protein 132D precursor							192.0	156.0	168.0					12																	129559351		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:129559351G>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.2369C>T	12.37:g.129559351G>A	ENSP00000408581:p.Thr790Met					TMEM132D_uc001uia.2_Missense_Mutation_p.T328M	p.T790M	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	9	2697	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	790			Extracellular (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.2369C>T	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	0.701	-0.790851	0.02884	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.14144	2.53;2.53	4.2	4.2	0.49525	.	0.206643	0.38837	N	0.001551	T	0.25344	0.0616	M	0.65975	2.015	0.09310	N	1	D;P	0.65815	0.995;0.532	P;B	0.56916	0.809;0.08	T	0.05566	-1.0877	9	.	.	.	-18.5498	7.774	0.29026	0.0934:0.1798:0.7268:0.0	.	790;328	Q14C87;Q14C87-2	T132D_HUMAN;.	M	328;790	ENSP00000374092:T328M;ENSP00000408581:T790M	.	T	-	2	0	TMEM132D	128125304	0.892000	0.30473	0.025000	0.17156	0.057000	0.15508	1.613000	0.36900	2.033000	0.60031	0.462000	0.41574	ACG		0.483	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448	
ADCY4	196883	broad.mit.edu	37	14	24787905	24787905	+	Silent	SNP	G	G	A			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr14:24787905G>A	ENST00000310677.4	-	25	3149	c.3036C>T	c.(3034-3036)aaC>aaT	p.N1012N	ADCY4_ENST00000554068.2_Silent_p.N1012N|ADCY4_ENST00000418030.2_Silent_p.N1012N	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	1012					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)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GGCTGGCCACGTTCACTGTGT	0.537																																						uc001wov.2																			0				ovary(1)|lung(1)|pancreas(1)	3						c.(3034-3036)AAC>AAT		adenylate cyclase 4							103.0	95.0	98.0					14																	24787905		2203	4300	6503	SO:0001819	synonymous_variant	196883				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|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|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24787905G>A	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.3036C>T	14.37:g.24787905G>A						ADCY4_uc001wow.2_Silent_p.N1012N|ADCY4_uc010toh.1_Silent_p.N698N|ADCY4_uc001wox.2_Silent_p.N1012N|ADCY4_uc001woy.2_Silent_p.N1012N	p.N1012N	NM_139247	NP_640340	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	24	3042	-			1012			Cytoplasmic (Potential).		B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Silent	SNP	ENST00000310677.4	37	c.3036C>T	CCDS9627.1																																																																																				0.537	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4		
SERPINA1	5265	broad.mit.edu	37	14	94849557	94849557	+	Silent	SNP	C	C	T			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr14:94849557C>T	ENST00000448921.1	-	4	590	c.18G>A	c.(16-18)tcG>tcA	p.S6S	SERPINA1_ENST00000437397.1_Silent_p.S6S|SERPINA1_ENST00000402629.1_Silent_p.S6S|SERPINA1_ENST00000393088.4_Silent_p.S6S|SERPINA1_ENST00000393087.4_Silent_p.S6S|SERPINA1_ENST00000440909.1_Silent_p.S6S|SERPINA1_ENST00000404814.4_Silent_p.S6S|SERPINA1_ENST00000555289.1_5'Flank|SERPINA1_ENST00000449399.3_Silent_p.S6S|SERPINA1_ENST00000355814.4_Silent_p.S6S	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	6					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of proteolysis (GO:0030162)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GGATGCCCCACGAGACAGAAG	0.612																																						uc001ycx.3																			0				skin(1)	1						c.(16-18)TCG>TCA		serine proteinase inhibitor, clade A, member 1	Alpha-1-proteinase inhibitor(DB00058)						53.0	49.0	50.0					14																	94849557		2203	4300	6503	SO:0001819	synonymous_variant	5265	Alpha-1-Antitrypsin_Deficiency			acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity	g.chr14:94849557C>T	X01683	CCDS9925.1	14q32.1	2014-02-18	2005-08-18		ENSG00000197249	ENSG00000197249		"""Serine (or cysteine) peptidase inhibitors"""	8941	protein-coding gene	gene with protein product	"""protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin"""	107400	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1"""	PI		24172014	Standard	NM_000295		Approved	AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, alpha1AT	uc010aux.3	P01009	OTTHUMG00000150355	ENST00000448921.1:c.18G>A	14.37:g.94849557C>T						SERPINA1_uc001ycw.3_RNA|SERPINA1_uc010auw.2_Silent_p.S6S|SERPINA1_uc010aux.2_Silent_p.S6S|SERPINA1_uc001ycy.3_Silent_p.S6S|SERPINA1_uc010auy.2_Silent_p.S6S|SERPINA1_uc001ycz.3_Silent_p.S6S|SERPINA1_uc010auz.2_Silent_p.S6S|SERPINA1_uc010ava.2_Silent_p.S6S|SERPINA1_uc001ydb.3_Silent_p.S6S|SERPINA1_uc010avb.2_Silent_p.S6S|SERPINA1_uc001ydc.3_Silent_p.S6S|SERPINA1_uc001yda.1_Silent_p.S6S	p.S6S	NM_000295	NP_000286	P01009	A1AT_HUMAN		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	2	279	-		all_cancers(154;0.0649)|all_epithelial(191;0.223)	6					A6PX14|B2RDQ8|Q0PVP5|Q13672|Q53XB8|Q5U0M1|Q7M4R2|Q86U18|Q86U19|Q96BF9|Q96ES1|Q9P1P0|Q9UCE6|Q9UCM3	Silent	SNP	ENST00000448921.1	37	c.18G>A	CCDS9925.1																																																																																				0.612	SERPINA1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317768.2	NM_001002235	
RYR3	6263	broad.mit.edu	37	15	34064164	34064164	+	Nonsense_Mutation	SNP	C	C	T			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr15:34064164C>T	ENST00000389232.4	+	63	8930	c.8860C>T	c.(8860-8862)Cga>Tga	p.R2954*	RYR3_ENST00000415757.3_Nonsense_Mutation_p.R2954*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2954					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGCTGGGTTACGAGCATTCTT	0.448																																						uc001zhi.2																			0				ovary(5)|central_nervous_system(4)|lung(1)	10						c.(8860-8862)CGA>TGA		ryanodine receptor 3							58.0	56.0	56.0					15																	34064164		1905	4130	6035	SO:0001587	stop_gained	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34064164C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.8860C>T	15.37:g.34064164C>T	ENSP00000373884:p.Arg2954*					RYR3_uc010bar.2_Nonsense_Mutation_p.R2954*	p.R2954*	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	63	8930	+		all_lung(180;7.18e-09)	2954			Cytoplasmic (By similarity).		O15175|Q15412	Nonsense_Mutation	SNP	ENST00000389232.4	37	c.8860C>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	51	17.535514	0.99888	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	.	.	.	5.64	5.64	0.86602	.	0.143577	0.46145	D	0.000319	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0742	0.64880	0.0:0.9289:0.0:0.0711	.	.	.	.	X	2954	.	ENSP00000354735:R2954X	R	+	1	2	RYR3	31851456	0.940000	0.31905	0.924000	0.36721	0.930000	0.56654	1.914000	0.39966	2.937000	0.99478	0.650000	0.86243	CGA		0.448	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		
ODF4	146852	broad.mit.edu	37	17	8243551	8243551	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr17:8243551G>A	ENST00000328248.2	+	1	370	c.182G>A	c.(181-183)cGc>cAc	p.R61H	ODF4_ENST00000584943.1_Intron|RP11-849F2.4_ENST00000585275.1_lincRNA	NM_153007.4	NP_694552.2	Q2M2E3	ODFP4_HUMAN	outer dense fiber of sperm tails 4	61					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|outer dense fiber (GO:0001520)				endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)	8						TTGGGCCAGCGCCAGAACTCT	0.587																																						uc002gle.1																			0				ovary(1)	1						c.(181-183)CGC>CAC		outer dense fiber of sperm tails 4							82.0	75.0	78.0					17																	8243551		2203	4300	6503	SO:0001583	missense	146852				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr17:8243551G>A	AB081120	CCDS11140.1	17p13	2010-09-27			ENSG00000184650	ENSG00000184650			19056	protein-coding gene	gene with protein product	"""cancer/testis antigen 136"""	610097					Standard	NM_153007		Approved	OPPO1, CT136	uc002gle.1	Q2M2E3	OTTHUMG00000108190	ENST00000328248.2:c.182G>A	17.37:g.8243551G>A	ENSP00000331086:p.Arg61His						p.R61H	NM_153007	NP_694552	Q2M2E3	ODFP4_HUMAN			1	364	+			61					Q8J021	Missense_Mutation	SNP	ENST00000328248.2	37	c.182G>A	CCDS11140.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.631653	0.46944	.	.	ENSG00000184650	ENST00000328248	T	0.27557	1.66	4.34	-2.17	0.07059	.	0.790513	0.11133	N	0.596122	T	0.20088	0.0483	L	0.38838	1.175	0.09310	N	1	B	0.25169	0.119	B	0.13407	0.009	T	0.18429	-1.0337	10	0.42905	T	0.14	-3.2119	8.3164	0.32102	0.6097:0.0:0.3903:0.0	.	61	Q2M2E3	ODFP4_HUMAN	H	61	ENSP00000331086:R61H	ENSP00000331086:R61H	R	+	2	0	ODF4	8184276	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.400000	0.07241	-0.241000	0.09681	-0.136000	0.14681	CGC		0.587	ODF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226996.1		
PPP1R1B	84152	broad.mit.edu	37	17	37791907	37791907	+	Missense_Mutation	SNP	C	C	T	rs367543181		TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr17:37791907C>T	ENST00000254079.4	+	6	962	c.493C>T	c.(493-495)Cgc>Tgc	p.R165C	STARD3_ENST00000580611.1_5'Flank|PPP1R1B_ENST00000394265.1_Missense_Mutation_p.R129C|PPP1R1B_ENST00000394267.2_Missense_Mutation_p.R129C|PPP1R1B_ENST00000580825.1_Missense_Mutation_p.R165C|STARD3_ENST00000544210.2_5'Flank|STARD3_ENST00000336308.5_5'Flank|STARD3_ENST00000394250.4_5'Flank|PPP1R1B_ENST00000579000.1_Missense_Mutation_p.R132C	NM_032192.3	NP_115568.2	Q9UD71	PPR1B_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1B	165					intracellular signal transduction (GO:0035556)|negative regulation of catalytic activity (GO:0043086)|negative regulation of female receptivity (GO:0007621)|negative regulation of protein kinase activity (GO:0006469)|regulation of catalytic activity (GO:0050790)|response to amphetamine (GO:0001975)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	protein kinase inhibitor activity (GO:0004860)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 1 regulator activity (GO:0008599)			kidney(1)|large_intestine(1)|liver(1)|lung(2)	5	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GCCCTGGGAGCGCCCACCCCC	0.582																																						uc002hrz.2																			0					0						c.(493-495)CGC>TGC		protein phosphatase 1, regulatory (inhibitor)							68.0	78.0	74.0					17																	37791907		2203	4300	6503	SO:0001583	missense	84152				signal transduction	cytosol	protein kinase inhibitor activity|protein phosphatase inhibitor activity	g.chr17:37791907C>T	AI124650	CCDS11339.1, CCDS11340.1	17q12	2012-04-17	2008-07-31		ENSG00000131771	ENSG00000131771	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9287	protein-coding gene	gene with protein product	"""dopamine and cAMP regulated phosphoprotein"""	604399				8120638	Standard	NM_032192		Approved	DARPP-32, FLJ20940	uc002hrz.3	Q9UD71	OTTHUMG00000133210	ENST00000254079.4:c.493C>T	17.37:g.37791907C>T	ENSP00000254079:p.Arg165Cys					PPP1R1B_uc002hsa.2_Missense_Mutation_p.R176C|PPP1R1B_uc010cvx.2_Missense_Mutation_p.R132C|PPP1R1B_uc002hsb.2_Missense_Mutation_p.R129C|PPP1R1B_uc002hsc.2_Missense_Mutation_p.R129C|STARD3_uc010weg.1_5'Flank|STARD3_uc002hsd.2_5'Flank|STARD3_uc010weh.1_5'Flank|STARD3_uc002hse.2_5'Flank|STARD3_uc010wei.1_5'Flank	p.R165C	NM_032192	NP_115568	Q9UD71	PPR1B_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		6	960	+	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		165					Q547V9|Q547W0|Q9H7G1	Missense_Mutation	SNP	ENST00000254079.4	37	c.493C>T	CCDS11339.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.949729	0.73787	.	.	ENSG00000131771	ENST00000254079;ENST00000357165;ENST00000394271;ENST00000394267;ENST00000394265	T;T;T	0.33438	1.41;1.41;1.41	5.27	5.27	0.74061	.	0.000000	0.51477	D	0.000092	T	0.48502	0.1503	L	0.51422	1.61	0.51482	D	0.99992	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.991;0.998;0.991	T	0.47114	-0.9142	10	0.87932	D	0	-16.8158	12.2211	0.54435	0.0:0.8286:0.1714:0.0	.	165;176;165	B3KVQ9;E7ENN5;Q9UD71	.;.;PPR1B_HUMAN	C	165;165;176;129;129	ENSP00000254079:R165C;ENSP00000377810:R129C;ENSP00000377808:R129C	ENSP00000254079:R165C	R	+	1	0	PPP1R1B	35045433	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.323000	0.43823	2.466000	0.83321	0.650000	0.86243	CGC		0.582	PPP1R1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256925.2	NM_032192	
INTS2	57508	broad.mit.edu	37	17	59952385	59952385	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr17:59952385G>A	ENST00000444766.3	-	19	2570	c.2495C>T	c.(2494-2496)aCg>aTg	p.T832M	Y_RNA_ENST00000365491.1_RNA|INTS2_ENST00000251334.6_Missense_Mutation_p.T824M	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	832					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						TGCATTAACCGTCATTACCCA	0.343																																						uc002izn.2																			0				ovary(1)|lung(1)|pancreas(1)	3						c.(2494-2496)ACG>ATG		integrator complex subunit 2							60.0	54.0	56.0					17																	59952385		1849	4099	5948	SO:0001583	missense	57508				snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	g.chr17:59952385G>A	AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"""KIAA1287"""	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.2495C>T	17.37:g.59952385G>A	ENSP00000414237:p.Thr832Met					INTS2_uc002izm.2_Missense_Mutation_p.T824M	p.T832M	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN			19	2571	-			832					Q9ULD3	Missense_Mutation	SNP	ENST00000444766.3	37	c.2495C>T	CCDS45750.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.124253	0.77436	.	.	ENSG00000108506	ENST00000444766;ENST00000251334	T	0.56776	0.44	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.71239	0.3316	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.70956	-0.4731	9	.	.	.	-11.2641	17.8928	0.88877	0.0:0.0:1.0:0.0	.	832	Q9H0H0	INT2_HUMAN	M	832;831	ENSP00000414237:T832M	.	T	-	2	0	INTS2	57307167	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	9.182000	0.94881	2.521000	0.84997	0.650000	0.86243	ACG		0.343	INTS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000445368.1	NM_020748	
TANC2	26115	broad.mit.edu	37	17	61271350	61271350	+	Splice_Site	SNP	A	A	G			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr17:61271350A>G	ENST00000424789.2	+	4	215		c.e4-1		AC037445.1_ENST00000581421.1_RNA|TANC2_ENST00000389520.4_Splice_Site|AC037445.1_ENST00000435892.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2						in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						TTCTTGTTACAGGTGATGCTG	0.423																																						uc002jal.3																			0				ovary(2)	2						c.e4-2		tetratricopeptide repeat, ankyrin repeat and							68.0	65.0	66.0					17																	61271350		1939	4120	6059	SO:0001630	splice_region_variant	26115						binding	g.chr17:61271350A>G	AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.212-1A>G	17.37:g.61271350A>G						TANC2_uc010wpe.1_5'Flank	p.G71_splice	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN			4	235	+								Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Splice_Site	SNP	ENST00000424789.2	37	c.212_splice	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	A	16.69	3.191880	0.58017	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6722	0.77286	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TANC2	58625082	1.000000	0.71417	0.977000	0.42913	0.718000	0.41266	9.070000	0.93974	2.096000	0.63516	0.528000	0.53228	.		0.423	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1		Intron
PCYT2	5833	broad.mit.edu	37	17	79864762	79864762	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr17:79864762G>A	ENST00000538936.2	-	7	658	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W	PCYT2_ENST00000570388.1_Missense_Mutation_p.R106W|PCYT2_ENST00000331285.3_Missense_Mutation_p.R106W|PCYT2_ENST00000538721.2_Missense_Mutation_p.R202W|PCYT2_ENST00000570391.1_Missense_Mutation_p.R152W|PCYT2_ENST00000571105.1_Missense_Mutation_p.R184W	NM_001256435.1|NM_002861.3	NP_001243364.1|NP_002852.1	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine	184					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)	ethanolamine-phosphate cytidylyltransferase activity (GO:0004306)			breast(2)|endometrium(1)|lung(4)|ovary(1)	8	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		Lamivudine(DB00709)	CAGGGGTTCCGCCCACCAGGG	0.622																																						uc002kcf.1																			0					0						c.(550-552)CGG>TGG		phosphate cytidylyltransferase 2, ethanolamine							44.0	47.0	46.0					17																	79864762		2203	4299	6502	SO:0001583	missense	5833				phospholipid biosynthetic process		ethanolamine-phosphate cytidylyltransferase activity	g.chr17:79864762G>A	D84307	CCDS11791.1, CCDS54178.1, CCDS58610.1, CCDS62364.1	17q25.3	2008-07-18				ENSG00000185813			8756	protein-coding gene	gene with protein product		602679				9083101	Standard	XM_005256386		Approved	ET	uc002kch.2	Q99447		ENST00000538936.2:c.550C>T	17.37:g.79864762G>A	ENSP00000439245:p.Arg184Trp					PCYT2_uc010wva.1_Missense_Mutation_p.R152W|PCYT2_uc010wvb.1_Missense_Mutation_p.R152W|PCYT2_uc002kce.1_Missense_Mutation_p.R106W|PCYT2_uc002kcg.1_Missense_Mutation_p.R213W|PCYT2_uc002kch.1_Missense_Mutation_p.R202W|PCYT2_uc002kci.1_Missense_Mutation_p.R143W|PCYT2_uc010dii.1_Missense_Mutation_p.R184W|PCYT2_uc010wvc.1_Missense_Mutation_p.R106W	p.R184W	NM_002861	NP_002852	Q99447	PCY2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		7	613	-	all_neural(118;0.0878)|Ovarian(332;0.12)		184			Catalytic 1 (Potential).		B7Z7A5|B7ZAS0|F5H8B1|Q6IBM3|Q96G08	Missense_Mutation	SNP	ENST00000538936.2	37	c.550C>T	CCDS11791.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.548480	0.86127	.	.	ENSG00000185813	ENST00000538721;ENST00000538936;ENST00000331285	.	.	.	4.34	4.34	0.51931	.	0.334911	0.29791	N	0.011188	T	0.52256	0.1723	L	0.38175	1.15	0.37319	D	0.909485	P;P;D;P;D	0.62365	0.846;0.921;0.987;0.921;0.991	B;B;P;B;P	0.48677	0.339;0.339;0.54;0.339;0.586	T	0.64223	-0.6458	9	0.66056	D	0.02	-20.4416	17.0425	0.86493	0.0:0.0:1.0:0.0	.	152;152;202;106;184	B7Z4W6;B7ZAS0;F5H8B1;B7Z7A5;Q99447	.;.;.;.;PCY2_HUMAN	W	202;184;106	.	ENSP00000331719:R106W	R	-	1	2	PCYT2	77458054	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	6.891000	0.75639	2.233000	0.73108	0.561000	0.74099	CGG		0.622	PCYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439939.1	NM_002861	
DSC3	1825	broad.mit.edu	37	18	28605880	28605880	+	Splice_Site	SNP	A	A	G			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr18:28605880A>G	ENST00000360428.4	-	5	556	c.476T>C	c.(475-477)gTt>gCt	p.V159A	DSC3_ENST00000434452.1_Splice_Site_p.V159A	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	159	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			ATCAGATTCAACCTAAAAGTA	0.264																																						uc002kwj.3																			0				ovary(2)|skin(2)	4						c.(475-477)GTT>GCT		desmocollin 3 isoform Dsc3a preproprotein							36.0	37.0	36.0					18																	28605880		2203	4298	6501	SO:0001630	splice_region_variant	1825				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	g.chr18:28605880A>G	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"""Cadherins / Major cadherins"""	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.475-1T>C	18.37:g.28605880A>G						DSC3_uc002kwi.3_Missense_Mutation_p.V159A	p.V159A	NM_001941	NP_001932	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)		5	631	-			159			Cadherin 1.|Extracellular (Potential).		A6NN35|Q14200|Q9HAZ9	Missense_Mutation	SNP	ENST00000360428.4	37	c.476T>C	CCDS32810.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.397884	0.83120	.	.	ENSG00000134762	ENST00000360428;ENST00000434452	T;T	0.51817	0.69;0.69	4.94	4.94	0.65067	Cadherin (4);Cadherin-like (1);	0.000000	0.30446	N	0.009611	T	0.68421	0.2999	M	0.83774	2.66	0.44000	D	0.996705	P;D	0.54964	0.949;0.969	D;P	0.63113	0.911;0.81	T	0.74278	-0.3717	10	0.87932	D	0	.	14.0067	0.64468	1.0:0.0:0.0:0.0	.	159;159	Q14574;Q14574-2	DSC3_HUMAN;.	A	159	ENSP00000353608:V159A;ENSP00000392068:V159A	ENSP00000353608:V159A	V	-	2	0	DSC3	26859878	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	6.926000	0.75835	2.186000	0.69663	0.533000	0.62120	GTT		0.264	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423	Missense_Mutation
DSG4	147409	broad.mit.edu	37	18	28991295	28991295	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr18:28991295G>A	ENST00000308128.4	+	15	2374	c.2239G>A	c.(2239-2241)Gca>Aca	p.A747T	RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.A766T|RP11-534N16.1_ENST00000581856.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	747					anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A747T(1)|p.A766T(1)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CCTCATggccgcaggggccgc	0.612																																						uc002kwq.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(5)|ovary(3)	8						c.(2239-2241)GCA>ACA		desmoglein 4 isoform 2 preproprotein							55.0	54.0	54.0					18																	28991295		2203	4300	6503	SO:0001583	missense	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28991295G>A	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.2239G>A	18.37:g.28991295G>A	ENSP00000311859:p.Ala747Thr					DSG4_uc002kwr.2_Missense_Mutation_p.A766T	p.A747T	NM_177986	NP_817123	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		15	2374	+			747			Cytoplasmic (Potential).		A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	37	c.2239G>A	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	G	9.416	1.081746	0.20309	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.54479	0.57;0.57	5.97	3.21	0.36854	.	1.875210	0.03665	N	0.243122	T	0.47303	0.1438	L	0.46157	1.445	0.09310	N	1	B;B	0.19445	0.035;0.036	B;B	0.15870	0.014;0.012	T	0.23013	-1.0200	10	0.33141	T	0.24	.	6.4264	0.21772	0.2094:0.1314:0.6592:0.0	.	766;747	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	T	747;766	ENSP00000311859:A747T;ENSP00000352785:A766T	ENSP00000311859:A747T	A	+	1	0	DSG4	27245293	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.646000	0.24797	0.413000	0.25759	-0.727000	0.03589	GCA		0.612	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986	
POLRMT	5442	broad.mit.edu	37	19	618520	618522	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr19:618520_618522delGGA	ENST00000588649.2	-	17	3472_3474	c.3388_3390delTCC	c.(3388-3390)tccdel	p.S1130del	AC005559.2_ENST00000591847.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	1130	Mediates interaction with TEFM.				gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCATCATGTGGGAGGAGTCCAGC	0.66																																						uc002lpf.1																			0				ovary(1)|pancreas(1)	2						c.(3388-3390)TCCdel		mitochondrial DNA-directed RNA polymerase																																				SO:0001651	inframe_deletion	5442				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding	g.chr19:618520_618522delGGA		CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.3388_3390delTCC	19.37:g.618523_618525delGGA	ENSP00000465759:p.Ser1130del						p.S1130del	NM_005035	NP_005026	O00411	RPOM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	17	3444_3446	-		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	1130			Mediates interaction with TEFM.		O60370	In_Frame_Del	DEL	ENST00000588649.2	37	c.3388_3390delTCC	CCDS12036.1																																																																																				0.660	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452172.3	NM_005035	
ZNF681	148213	broad.mit.edu	37	19	23927954	23927954	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr19:23927954C>T	ENST00000402377.3	-	4	539	c.398G>A	c.(397-399)tGt>tAt	p.C133Y	ZNF681_ENST00000395385.3_Missense_Mutation_p.C64Y	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	133					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)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AGTTGGCAAACATTGGTTAAG	0.313																																						uc002nrk.3																			0					0						c.(397-399)TGT>TAT		zinc finger protein 681							53.0	52.0	53.0					19																	23927954		2202	4300	6502	SO:0001583	missense	148213				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:23927954C>T	AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"""Zinc fingers, C2H2-type"", ""-"""	26457	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31526"""						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.398G>A	19.37:g.23927954C>T	ENSP00000384000:p.Cys133Tyr					ZNF681_uc002nrl.3_Missense_Mutation_p.C64Y|ZNF681_uc002nrj.3_Missense_Mutation_p.C64Y	p.C133Y	NM_138286	NP_612143	Q96N22	ZN681_HUMAN			4	540	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	133					B3KVF7	Missense_Mutation	SNP	ENST00000402377.3	37	c.398G>A	CCDS12414.2	.	.	.	.	.	.	.	.	.	.	.	2.896	-0.228660	0.06022	.	.	ENSG00000196172	ENST00000402377;ENST00000395385;ENST00000528059;ENST00000531570	T;T;T;T	0.10099	3.23;2.91;6.06;6.41	1.27	-2.39	0.06602	.	.	.	.	.	T	0.11153	0.0272	M	0.83012	2.62	0.09310	N	1	B	0.25272	0.122	B	0.31290	0.127	T	0.47623	-0.9103	9	0.09338	T	0.73	.	0.1863	0.00129	0.256:0.2598:0.2549:0.2293	.	133	Q96N22	ZN681_HUMAN	Y	133;64;64;64	ENSP00000384000:C133Y;ENSP00000378783:C64Y;ENSP00000433806:C64Y;ENSP00000435824:C64Y	ENSP00000378783:C64Y	C	-	2	0	ZNF681	23719794	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	-0.715000	0.04997	-0.381000	0.07882	0.313000	0.20887	TGT		0.313	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320248.2	NM_138286	
PRODH2	58510	broad.mit.edu	37	19	36293096	36293096	+	Silent	SNP	G	G	A			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr19:36293096G>A	ENST00000301175.3	-	10	1440	c.1423C>T	c.(1423-1425)Ctg>Ttg	p.L475L		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	475					proline catabolic process to glutamate (GO:0010133)	mitochondrial inner membrane (GO:0005743)	proline dehydrogenase activity (GO:0004657)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CACATACCCAGTGCTAGAGAG	0.577																																						uc002obx.1																			0				ovary(2)	2						c.(1423-1425)CTG>TTG		kidney and liver proline oxidase 1							202.0	171.0	181.0					19																	36293096		2203	4300	6503	SO:0001819	synonymous_variant	58510				glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity	g.chr19:36293096G>A	U80018	CCDS12478.1	19q13.1	2014-07-11				ENSG00000250799			17325	protein-coding gene	gene with protein product							Standard	NM_021232		Approved	HSPOX1	uc002obx.1	Q9UF12		ENST00000301175.3:c.1423C>T	19.37:g.36293096G>A							p.L475L	NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		10	1441	-	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		475						Silent	SNP	ENST00000301175.3	37	c.1423C>T	CCDS12478.1																																																																																				0.577	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452552.2	NM_021232	
PSG7	5676	broad.mit.edu	37	19	43439731	43439731	+	RNA	SNP	G	G	A	rs140238439	byFrequency	TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr19:43439731G>A	ENST00000406070.2	-	0	351				PSG7_ENST00000471557.1_RNA|PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				TTATTTGACCGTCTACTATAT	0.418													.|||	9	0.00179712	0.0	0.0	5008	,	,		19066	0.0069		0.0	False		,,,				2504	0.002					uc002ovl.3																			0					0						c.(253-255)GAC>GAT		pregnancy specific beta-1-glycoprotein 7							245.0	247.0	246.0					19																	43439731		2201	4300	6501			5676				female pregnancy	extracellular region		g.chr19:43439731G>A			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43439731G>A						PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Intron	p.D85D	NM_002783	NP_002774	Q13046	PSG7_HUMAN			2	357	-		Prostate(69;0.00682)	85			Ig-like V-type.		Q15232	Silent	SNP	ENST00000406070.2	37	c.255C>T																																																																																					0.418	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650	
PVR	5817	broad.mit.edu	37	19	45153193	45153193	+	Silent	SNP	C	C	T			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr19:45153193C>T	ENST00000425690.3	+	3	839	c.540C>T	c.(538-540)caC>caT	p.H180H	PVR_ENST00000344956.4_Silent_p.H180H|PVR_ENST00000406449.4_Silent_p.H180H|PVR_ENST00000403059.4_Silent_p.H180H|CTB-171A8.1_ENST00000590796.1_RNA	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor	180	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|receptor activity (GO:0004872)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		TCACCTGGCACTCAGACCTGG	0.632																																						uc002ozm.2																			0					0						c.(538-540)CAC>CAT		poliovirus receptor isoform alpha							56.0	59.0	58.0					19																	45153193		2203	4300	6503	SO:0001819	synonymous_variant	5817				adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity	g.chr19:45153193C>T	BC015542	CCDS12640.1, CCDS46105.1, CCDS46106.1, CCDS46107.1	19q13.2	2013-01-29			ENSG00000073008	ENSG00000073008		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9705	protein-coding gene	gene with protein product	"""nectin-like 5"""	173850		PVS		2170108	Standard	XM_005259120		Approved	CD155, HVED, Necl-5, NECL5, Tage4	uc002ozm.3	P15151	OTTHUMG00000151527	ENST00000425690.3:c.540C>T	19.37:g.45153193C>T						PVR_uc010ejs.2_Silent_p.H180H|PVR_uc010xxb.1_Silent_p.H180H|PVR_uc010xxc.1_Silent_p.H180H|PVR_uc002ozn.2_Silent_p.H125H	p.H180H	NM_006505	NP_006496	P15151	PVR_HUMAN		Epithelial(262;0.000601)	3	839	+	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)	180			Extracellular (Potential).|Ig-like C2-type 1.		B4DTS9|P15152|Q15267|Q15268|Q96BJ1	Silent	SNP	ENST00000425690.3	37	c.540C>T	CCDS12640.1																																																																																				0.632	PVR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323017.2	NM_006505	
VSTM1	284415	broad.mit.edu	37	19	54567025	54567025	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr19:54567025C>T	ENST00000338372.2	-	1	182	c.7G>A	c.(7-9)Gca>Aca	p.A3T	VSTM1_ENST00000425006.2_Missense_Mutation_p.A3T|VSTM1_ENST00000366170.2_5'UTR|VSTM1_ENST00000376626.1_Missense_Mutation_p.A3T	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	3					immune system process (GO:0002376)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		AGGAATTCTGCGGTCATAGCG	0.627																																						uc002qcw.3																			0					0						c.(7-9)GCA>ACA		V-set and transmembrane domain containing 1							164.0	163.0	164.0					19																	54567025		2203	4300	6503	SO:0001583	missense	284415					integral to membrane		g.chr19:54567025C>T	AY358542	CCDS12872.1, CCDS74441.1, CCDS74442.1	19q13.42	2013-01-11			ENSG00000189068	ENSG00000189068		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29455	protein-coding gene	gene with protein product						12975309	Standard	NM_198481		Approved	UNQ3033	uc002qcw.4	Q6UX27	OTTHUMG00000064906	ENST00000338372.2:c.7G>A	19.37:g.54567025C>T	ENSP00000343366:p.Ala3Thr					VSTM1_uc010erb.2_RNA|VSTM1_uc002qcx.3_Missense_Mutation_p.A3T	p.A3T	NM_198481	NP_940883	Q6UX27	VSTM1_HUMAN		GBM - Glioblastoma multiforme(134;0.165)	1	183	-	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)		3					B6A8C6|D2DJS3|D2DJS4|Q496B6|Q496B7	Missense_Mutation	SNP	ENST00000338372.2	37	c.7G>A	CCDS12872.1	.	.	.	.	.	.	.	.	.	.	C	0.018	-1.471814	0.01044	.	.	ENSG00000189068	ENST00000338372;ENST00000376626;ENST00000425006	T;T;T	0.00557	6.86;6.62;6.65	3.38	-1.32	0.09201	.	.	.	.	.	T	0.00241	0.0007	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.36625	-0.9740	9	0.45353	T	0.12	-0.6291	3.9167	0.09227	0.0:0.3509:0.1993:0.4498	.	3;3	D2DJS4;Q6UX27	.;VSTM1_HUMAN	T	3	ENSP00000343366:A3T;ENSP00000365813:A3T;ENSP00000413006:A3T	ENSP00000343366:A3T	A	-	1	0	VSTM1	59258837	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.303000	0.02743	-0.391000	0.07763	-0.415000	0.06103	GCA		0.627	VSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139358.3	NM_198481	
GPR17	2840	broad.mit.edu	37	2	128408657	128408657	+	Silent	SNP	C	C	T	rs61749508		TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr2:128408657C>T	ENST00000272644.3	+	3	506	c.432C>T	c.(430-432)taC>taT	p.Y144Y	LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000324938.5_Intron|GPR17_ENST00000544369.1_Silent_p.Y144Y|LIMS2_ENST00000545738.2_Intron|LIMS2_ENST00000409254.1_5'Flank|LIMS2_ENST00000355119.4_Intron|GPR17_ENST00000393018.3_Silent_p.Y144Y|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000410038.1_5'Flank|LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000410011.1_Intron	NM_001161416.1|NM_001161417.1|NM_005291.2	NP_001154888.1|NP_001154889.1|NP_005282.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	144					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		TCAACATGTACGCCAGCATCT	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		18263	0.001		0.0	False		,,,				2504	0.0					uc010yzn.1																			0					0						c.(430-432)TAC>TAT		G protein-coupled receptor 17 isoform a							118.0	100.0	106.0					2																	128408657		2203	4300	6503	SO:0001819	synonymous_variant	2840					integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled	g.chr2:128408657C>T		CCDS2148.1	2q21	2014-01-30			ENSG00000144230	ENSG00000144230		"""GPCR / Class A : Orphans"""	4471	protein-coding gene	gene with protein product		603071				8558062	Standard	NM_001161415		Approved		uc002tpc.3	Q13304	OTTHUMG00000131533	ENST00000272644.3:c.432C>T	2.37:g.128408657C>T						LIMS2_uc002tow.2_5'Flank|LIMS2_uc002tox.2_Intron|LIMS2_uc010fmb.2_Intron|LIMS2_uc002toy.2_Intron|LIMS2_uc010yzm.1_Intron|LIMS2_uc002tpa.2_Intron|LIMS2_uc002toz.2_Intron|LIMS2_uc002tpb.2_Intron|GPR17_uc002tpc.2_Silent_p.Y144Y|GPR17_uc010yzo.1_Silent_p.Y116Y|GPR17_uc002tpd.2_Silent_p.Y116Y	p.Y144Y	NM_001161415	NP_001154887	Q13304	GPR17_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0677)	4	1043	+	Colorectal(110;0.1)	Ovarian(717;0.15)	144			Helical; Name=3; (Potential).		A8K9L0|B2R9X0|Q8N5S7|Q9UDZ6|Q9UE21	Silent	SNP	ENST00000272644.3	37	c.432C>T	CCDS2148.1																																																																																				0.602	GPR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254390.1		
TTN	7273	broad.mit.edu	37	2	179548796	179548796	+	Silent	SNP	C	C	T	rs368838709		TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr2:179548796C>T	ENST00000591111.1	-	131	32009	c.31785G>A	c.(31783-31785)ccG>ccA	p.P10595P	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Silent_p.P10912P|TTN_ENST00000342992.6_Silent_p.P9668P|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.				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)			CAGCTCTCTTCGGTTCCTCTG	0.368																																						uc010zfg.1																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(29002-29004)CCG>CCA		titin isoform N2-A							80.0	79.0	79.0					2																	179548796		1810	4071	5881	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179548796C>T	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.31785G>A	2.37:g.179548796C>T						TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.P6329P|TTN_uc010fre.1_Intron	p.P9668P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		130	29228	-			10595					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	Silent	SNP	ENST00000591111.1	37	c.29004G>A																																																																																					0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
ASIC4	55515	broad.mit.edu	37	2	220379838	220379838	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr2:220379838C>T	ENST00000347842.3	+	1	787	c.773C>T	c.(772-774)gCc>gTc	p.A258V	AC053503.11_ENST00000429882.1_RNA|ASIC4_ENST00000358078.4_Missense_Mutation_p.A258V	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	258					ion transmembrane transport (GO:0034220)|sodium ion transmembrane transport (GO:0035725)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)|sodium channel activity (GO:0005272)|sodium ion transmembrane transporter activity (GO:0015081)										CTCAGCGATGCCGACATCTTC	0.657																																						uc002vma.2																			0				ovary(2)	2						c.(772-774)GCC>GTC		amiloride-sensitive cation channel 4 isoform 2							50.0	43.0	45.0					2																	220379838		2203	4300	6503	SO:0001583	missense	55515					integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity	g.chr2:220379838C>T	AJ271643	CCDS2442.1	2q36.1	2012-02-22	2012-02-22	2012-02-22	ENSG00000072182	ENSG00000072182		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	21263	protein-coding gene	gene with protein product		606715	"""amiloride-sensitive cation channel 4, pituitary"", ""amiloride-sensitive cation channel family member 4, pituitary"""	ACCN4		10852210	Standard	NM_182847		Approved	BNAC4	uc002vma.3	Q96FT7	OTTHUMG00000058928	ENST00000347842.3:c.773C>T	2.37:g.220379838C>T	ENSP00000326627:p.Ala258Val					ACCN4_uc010fwi.1_Missense_Mutation_p.A258V|ACCN4_uc010fwj.1_Missense_Mutation_p.A258V|ACCN4_uc002vly.1_Missense_Mutation_p.A258V|ACCN4_uc002vlz.2_Missense_Mutation_p.A258V|ACCN4_uc002vmb.2_5'Flank	p.A258V	NM_182847	NP_878267	Q96FT7	ACCN4_HUMAN		Epithelial(149;5.47e-10)|all cancers(144;9e-08)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.0086)|READ - Rectum adenocarcinoma(5;0.156)	1	787	+		Renal(207;0.0183)	258			Extracellular (Potential).		Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	Missense_Mutation	SNP	ENST00000347842.3	37	c.773C>T	CCDS2442.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.337837	0.60963	.	.	ENSG00000072182	ENST00000347842;ENST00000358078	T;T	0.61980	0.06;0.06	4.69	4.69	0.59074	.	0.169173	0.37955	N	0.001870	T	0.64204	0.2577	L	0.45137	1.4	0.51482	D	0.999924	P;P;D	0.61697	0.948;0.928;0.99	P;P;P	0.54965	0.765;0.681;0.723	T	0.60632	-0.7225	10	0.30078	T	0.28	-13.9006	12.533	0.56126	0.1666:0.8334:0.0:0.0	.	258;258;258	Q96FT7;Q96FT7-4;Q96FT7-2	ACCN4_HUMAN;.;.	V	258	ENSP00000326627:A258V;ENSP00000350786:A258V	ENSP00000326627:A258V	A	+	2	0	ACCN4	220088082	0.998000	0.40836	1.000000	0.80357	0.988000	0.76386	3.717000	0.54911	2.431000	0.82371	0.655000	0.94253	GCC		0.657	ASIC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130263.1	NM_018674	
SLCO4A1	28231	broad.mit.edu	37	20	61297841	61297841	+	Silent	SNP	C	C	T			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr20:61297841C>T	ENST00000370507.1	+	6	1482	c.1386C>T	c.(1384-1386)acC>acT	p.T462T	RP11-93B14.5_ENST00000411824.1_RNA|RP11-93B14.5_ENST00000433126.1_RNA|SLCO4A1_ENST00000217159.1_Silent_p.T462T|SLCO4A1_ENST00000470412.1_3'UTR|RP11-93B14.5_ENST00000451648.1_RNA			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	462					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TGTTCTGCACCGTTGTCAGCC	0.652																																					Pancreas(168;741 2006 10379 40139 45334)	uc002ydb.1																			0				ovary(1)	1						c.(1384-1386)ACC>ACT		solute carrier organic anion transporter family							175.0	161.0	166.0					20																	61297841		2203	4300	6503	SO:0001819	synonymous_variant	28231				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr20:61297841C>T	AB031051	CCDS13501.1	20q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000101187	ENSG00000101187		"""Solute carriers"""	10953	protein-coding gene	gene with protein product		612436	"""solute carrier family 21 (organic anion transporter), member 12"""	SLC21A12		10873595	Standard	NM_016354		Approved	OATP-E, OATP4A1	uc002ydb.1	Q96BD0	OTTHUMG00000032923	ENST00000370507.1:c.1386C>T	20.37:g.61297841C>T						SLCO4A1_uc002ydc.1_RNA|LOC100127888_uc002ydd.2_RNA|SLCO4A1_uc002yde.1_5'Flank	p.T462T	NM_016354	NP_057438	Q96BD0	SO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		7	1591	+	Breast(26;3.65e-08)		462			Helical; Name=9; (Potential).		Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	Silent	SNP	ENST00000370507.1	37	c.1386C>T	CCDS13501.1																																																																																				0.652	SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080048.2	NM_016354	
OSM	5008	broad.mit.edu	37	22	30660354	30660354	+	Missense_Mutation	SNP	G	G	A	rs201503663		TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr22:30660354G>A	ENST00000215781.2	-	3	317	c.277C>T	c.(277-279)Cgg>Tgg	p.R93W	OSM_ENST00000403463.1_3'UTR|OSM_ENST00000403389.1_Missense_Mutation_p.R72W	NM_020530.4	NP_065391.1	P13725	ONCM_HUMAN	oncostatin M	93					behavioral response to pain (GO:0048266)|cell proliferation (GO:0008283)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of hormone secretion (GO:0046888)|negative regulation of meiosis (GO:0045835)|peripheral nervous system development (GO:0007422)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of growth (GO:0040008)|response to heat (GO:0009408)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	extracellular space (GO:0005615)|oncostatin-M receptor complex (GO:0005900)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|oncostatin-M receptor binding (GO:0005147)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3)	11			Epithelial(10;0.206)			AGGAAGCCCCGCCTGCCCAGC	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		15973	0.0		0.0	False		,,,				2504	0.001					uc003ahb.2																			0				skin(1)	1						c.(277-279)CGG>TGG		oncostatin M precursor		G	TRP/ARG	0,4386		0,0,2193	23.0	25.0	24.0		277	-4.8	0.0	22		24	1,8547		0,1,4273	no	missense	OSM	NM_020530.4	101	0,1,6466	AA,AG,GG		0.0117,0.0,0.0077	benign	93/253	30660354	1,12933	2193	4274	6467	SO:0001583	missense	5008				cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding	g.chr22:30660354G>A	AF129855	CCDS13873.1	22q12.2	2011-07-21			ENSG00000099985	ENSG00000099985			8506	protein-coding gene	gene with protein product		165095				1717982	Standard	NM_020530		Approved	MGC20461	uc003ahb.3	P13725	OTTHUMG00000150913	ENST00000215781.2:c.277C>T	22.37:g.30660354G>A	ENSP00000215781:p.Arg93Trp						p.R93W	NM_020530	NP_065391	P13725	ONCM_HUMAN	Epithelial(10;0.206)		3	329	-			93					Q6FHP8|Q9UCP6	Missense_Mutation	SNP	ENST00000215781.2	37	c.277C>T	CCDS13873.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.696181	0.30052	0.0	1.17E-4	ENSG00000099985	ENST00000215781;ENST00000403389	T	0.48836	0.8	3.73	-4.81	0.03180	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.698390	0.03715	N	0.250910	T	0.25791	0.0628	N	0.17082	0.46	0.09310	N	1	B	0.19200	0.034	B	0.11329	0.006	T	0.15037	-1.0451	10	0.56958	D	0.05	-0.4006	0.5647	0.00685	0.1995:0.2884:0.2193:0.2927	.	93	P13725	ONCM_HUMAN	W	93;72	ENSP00000215781:R93W	ENSP00000215781:R93W	R	-	1	2	OSM	28990354	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.352000	0.07701	-0.562000	0.06086	0.561000	0.74099	CGG		0.642	OSM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320512.1	NM_020530	
CX3CR1	1524	broad.mit.edu	37	3	39307959	39307959	+	Silent	SNP	G	G	A	rs550232627		TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr3:39307959G>A	ENST00000541347.1	-	2	281	c.42C>T	c.(40-42)taC>taT	p.Y14Y	CX3CR1_ENST00000358309.3_Silent_p.Y46Y|CX3CR1_ENST00000399220.2_Silent_p.Y14Y|CX3CR1_ENST00000542107.1_Silent_p.Y14Y	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	14					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cerebral cortex cell migration (GO:0021795)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|macrophage chemotaxis (GO:0048246)|microglial cell activation involved in immune response (GO:0002282)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|response to wounding (GO:0009611)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|neuronal cell body membrane (GO:0032809)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-X3-C chemokine receptor activity (GO:0016495)|chemokine receptor activity (GO:0004950)			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		CCAAATCATCGTACTCAAAGT	0.443																																						uc003cjl.2																			0				lung(3)	3						c.(40-42)TAC>TAT		chemokine (C-X3-C motif) receptor 1							64.0	64.0	64.0					3																	39307959		1926	4145	6071	SO:0001819	synonymous_variant	1524				cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity	g.chr3:39307959G>A	BC028078	CCDS43069.1, CCDS54571.1	3p21.3	2012-08-08	2002-08-22		ENSG00000168329	ENSG00000168329		"""GPCR / Class A : Chemokine receptors : C-X-3-C motif"""	2558	protein-coding gene	gene with protein product		601470	"""chemokine (C-X3-C) receptor 1"""	GPR13, CMKBRL1		9726990, 7646814	Standard	NM_001171171		Approved	CMKDR1, V28, CCRL1	uc021wwc.1	P49238	OTTHUMG00000156249	ENST00000541347.1:c.42C>T	3.37:g.39307959G>A							p.Y14Y	NM_001337	NP_001328	P49238	CX3C1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)	2	134	-			14			Extracellular (Potential).		A0N0N6|B2R5Z4|J3KP17	Silent	SNP	ENST00000541347.1	37	c.42C>T	CCDS43069.1																																																																																				0.443	CX3CR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343613.1	NM_001337	
WDR82	80335	broad.mit.edu	37	3	52292683	52292683	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr3:52292683C>T	ENST00000296490.3	-	8	1062	c.781G>A	c.(781-783)Ggc>Agc	p.G261S		NM_025222.3	NP_079498.2	Q6UXN9	WDR82_HUMAN	WD repeat domain 82	261					histone H3-K4 methylation (GO:0051568)	chromatin (GO:0000785)|histone methyltransferase complex (GO:0035097)|PTW/PP1 phosphatase complex (GO:0072357)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)								BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)		TGGATCTTGCCATCCTCTGAA	0.438																																						uc003ddl.2																			0					0						c.(781-783)GGC>AGC		WD repeat domain 82							113.0	105.0	107.0					3																	52292683		1947	4143	6090	SO:0001583	missense	80335				histone H3-K4 methylation	chromatin|PTW/PP1 phosphatase complex|Set1C/COMPASS complex	protein binding	g.chr3:52292683C>T	AF132207	CCDS2851.2	3p21.2	2013-01-10	2007-07-04	2007-07-04	ENSG00000164091	ENSG00000164091		"""WD repeat domain containing"""	28826	protein-coding gene	gene with protein product		611059	"""transmembrane protein 113"""	TMEM113		17355966	Standard	NM_025222		Approved	PRO2730, MST107, MSTP107, PRO34047, WDR82A, SWD2	uc003ddl.2	Q6UXN9	OTTHUMG00000150391	ENST00000296490.3:c.781G>A	3.37:g.52292683C>T	ENSP00000296490:p.Gly261Ser					WDR82_uc003ddk.2_Missense_Mutation_p.G186S	p.G261S	NM_025222	NP_079498	Q6UXN9	WDR82_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)	8	1063	-			261			WD 5.		A8K5R5|Q8TEB2	Missense_Mutation	SNP	ENST00000296490.3	37	c.781G>A	CCDS2851.2	.	.	.	.	.	.	.	.	.	.	C	36	5.694579	0.96793	.	.	ENSG00000164091	ENST00000296490	T	0.64618	-0.11	5.87	5.87	0.94306	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.70876	0.3274	L	0.52206	1.635	0.80722	D	1	D	0.53462	0.96	P	0.54924	0.764	T	0.66464	-0.5917	10	0.35671	T	0.21	-21.6384	20.1957	0.98242	0.0:1.0:0.0:0.0	.	261	Q6UXN9	WDR82_HUMAN	S	261	ENSP00000296490:G261S	ENSP00000296490:G261S	G	-	1	0	WDR82	52267723	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.581000	0.82535	2.780000	0.95670	0.563000	0.77884	GGC		0.438	WDR82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317919.1	NM_025222	
TRH	7200	broad.mit.edu	37	3	129695840	129695840	+	Silent	SNP	G	G	A			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr3:129695840G>A	ENST00000302649.3	+	3	1037	c.510G>A	c.(508-510)gaG>gaA	p.E170E	TRH_ENST00000507066.1_Silent_p.E166E	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	170					adult walking behavior (GO:0007628)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|histamine metabolic process (GO:0001692)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of feeding behavior (GO:2000252)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of insulin secretion (GO:0032024)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	thyrotropin-releasing hormone activity (GO:0008437)	p.E170E(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						Gggaagaagaggaggaggagg	0.642																																					Esophageal Squamous(60;321 1330 17401 41911)	uc003enc.2																			1	Substitution - coding silent(1)		prostate(1)	ovary(1)	1						c.(508-510)GAG>GAA		thyrotropin-releasing hormone							33.0	35.0	34.0					3																	129695840		2202	4300	6502	SO:0001819	synonymous_variant	7200				cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity	g.chr3:129695840G>A		CCDS3066.1	3q13.3-q21	2013-02-28				ENSG00000170893		"""Endogenous ligands"""	12298	protein-coding gene	gene with protein product	"""prothyroliberin"""	613879				2126343, 1900134	Standard	NM_007117		Approved		uc003enc.4	P20396		ENST00000302649.3:c.510G>A	3.37:g.129695840G>A							p.E170E	NM_007117	NP_009048	P20396	TRH_HUMAN			3	1071	+			170					B2R8R1|Q2TB83	Silent	SNP	ENST00000302649.3	37	c.510G>A	CCDS3066.1																																																																																				0.642	TRH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356592.1	NM_007117	
GFM1	85476	broad.mit.edu	37	3	158378683	158378683	+	Silent	SNP	C	C	T	rs575709528		TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr3:158378683C>T	ENST00000486715.1	+	10	1599	c.1242C>T	c.(1240-1242)gcC>gcT	p.A414A	GFM1_ENST00000478576.1_Silent_p.A414A|GFM1_ENST00000490261.1_3'UTR|GFM1_ENST00000264263.5_Silent_p.A433A	NM_024996.5	NP_079272.4			G elongation factor, mitochondrial 1											breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			AAGTATATGCCGGAGACATCT	0.353																																						uc003fce.2																			0				ovary(3)|central_nervous_system(1)	4						c.(1240-1242)GCC>GCT		G elongation factor, mitochondrial 1 precursor							158.0	156.0	157.0					3																	158378683		2203	4300	6503	SO:0001819	synonymous_variant	85476				mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity	g.chr3:158378683C>T	AF309777	CCDS33885.1	3q25	2008-02-05			ENSG00000168827	ENSG00000168827			13780	protein-coding gene	gene with protein product		606639	"""G translation elongation factor, mitochondrial"""			11374907, 11735030	Standard	NM_024996		Approved	EFGM, GFM, EGF1	uc003fce.3	Q96RP9	OTTHUMG00000158804	ENST00000486715.1:c.1242C>T	3.37:g.158378683C>T						GFM1_uc003fcd.2_Silent_p.A414A|GFM1_uc003fcf.2_RNA|GFM1_uc003fcg.2_Silent_p.A345A	p.A414A	NM_024996	NP_079272	Q96RP9	EFGM_HUMAN	Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		10	1349	+			414						Silent	SNP	ENST00000486715.1	37	c.1242C>T	CCDS33885.1																																																																																				0.353	GFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352271.1	NM_024996	
FGG	2266	broad.mit.edu	37	4	155528019	155528019	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr4:155528019C>T	ENST00000336098.3	-	8	1005	c.967G>A	c.(967-969)Gat>Aat	p.D323N	FGG_ENST00000404648.3_Missense_Mutation_p.D323N|FGG_ENST00000405164.1_Missense_Mutation_p.D331N|FGG_ENST00000407946.1_Missense_Mutation_p.D331N	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	323	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CTAGGATCATCGCCAAAATCA	0.468																																						uc003ioj.2																			0					0						c.(967-969)GAT>AAT		fibrinogen, gamma chain isoform gamma-B	Sucralfate(DB00364)						245.0	216.0	226.0					4																	155528019		2203	4300	6503	SO:0001583	missense	2266				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155528019C>T		CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3694	protein-coding gene	gene with protein product		134850	"""fibrinogen, gamma polypeptide"""				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.967G>A	4.37:g.155528019C>T	ENSP00000336829:p.Asp323Asn					FGG_uc003iog.2_Missense_Mutation_p.D323N|FGG_uc003ioh.2_Missense_Mutation_p.D331N|FGG_uc010ipx.2_Missense_Mutation_p.D151N|FGG_uc010ipy.2_Missense_Mutation_p.D34N|FGG_uc003ioi.2_Missense_Mutation_p.D34N|FGG_uc003iok.2_Missense_Mutation_p.D331N	p.D323N	NM_021870	NP_068656	P02679	FIBG_HUMAN			8	1108	-	all_hematologic(180;0.215)	Renal(120;0.0458)	323			Fibrinogen C-terminal.		A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Missense_Mutation	SNP	ENST00000336098.3	37	c.967G>A	CCDS3788.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.075013	0.76415	.	.	ENSG00000171557	ENST00000404648;ENST00000405164;ENST00000336098;ENST00000407946	D;D;D;D	0.97430	-4.38;-4.38;-4.38;-4.38	5.79	5.79	0.91817	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.135793	0.64402	D	0.000003	D	0.98469	0.9490	M	0.80183	2.485	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.76071	0.967;0.987;0.987;0.987;0.978	D	0.98387	1.0561	10	0.46703	T	0.11	.	20.0275	0.97527	0.0:1.0:0.0:0.0	.	220;331;323;331;323	D3DP16;C9JC84;P02679;C9JEU5;P02679-2	.;.;FIBG_HUMAN;.;.	N	323;331;323;331	ENSP00000384860:D323N;ENSP00000384101:D331N;ENSP00000336829:D323N;ENSP00000384552:D331N	ENSP00000336829:D323N	D	-	1	0	FGG	155747469	1.000000	0.71417	0.984000	0.44739	0.495000	0.33615	4.731000	0.62022	2.727000	0.93392	0.650000	0.86243	GAT		0.468	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1	NM_021870	
IRX4	50805	broad.mit.edu	37	5	1880903	1880903	+	Silent	SNP	G	G	A			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr5:1880903G>A	ENST00000505790.1	-	4	799	c.343C>T	c.(343-345)Ctg>Ttg	p.L115L	IRX4_ENST00000513692.1_Silent_p.L115L|IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000231357.2_Silent_p.L115L	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	115					establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		GCTGGTGCCAGGCCCCCATGC	0.622																																						uc003jcz.2																			0					0						c.(343-345)CTG>TTG		iroquois homeobox 4							68.0	73.0	71.0					5																	1880903		2203	4300	6503	SO:0001819	synonymous_variant	50805				heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:1880903G>A	AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"""Homeoboxes / TALE class"""	6129	protein-coding gene	gene with protein product		606199	"""iroquois homeobox protein 4"""			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.343C>T	5.37:g.1880903G>A						IRX4_uc011cmf.1_5'UTR	p.L115L	NM_016358	NP_057442	P78413	IRX4_HUMAN		GBM - Glioblastoma multiforme(108;0.242)	3	462	-			115					B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	Silent	SNP	ENST00000505790.1	37	c.343C>T	CCDS3867.1																																																																																				0.622	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365500.1	NM_016358	
TRPC7	57113	broad.mit.edu	37	5	135692954	135692954	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr5:135692954G>A	ENST00000513104.1	-	2	404	c.122C>T	c.(121-123)aCg>aTg	p.T41M	TRPC7_ENST00000355180.3_Missense_Mutation_p.T41M|TRPC7_ENST00000426057.2_Missense_Mutation_p.T41M	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	41					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTCCTCGGGCGTCAGACTGGT	0.602																																						uc003lbn.1																			0					0						c.(118-120)ACG>ATG		transient receptor potential cation channel,							81.0	90.0	87.0					5																	135692954		2105	4248	6353	SO:0001583	missense	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135692954G>A	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.122C>T	5.37:g.135692954G>A	ENSP00000426070:p.Thr41Met					TRPC7_uc010jef.1_Missense_Mutation_p.T32M|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Missense_Mutation_p.T32M|TRPC7_uc010jei.1_Missense_Mutation_p.T32M|TRPC7_uc010jej.1_Translation_Start_Site	p.T40M	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		1	122	-			41			Cytoplasmic (Potential).		A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	37	c.119C>T	CCDS47267.2	.	.	.	.	.	.	.	.	.	.	G	24.6	4.546444	0.86022	.	.	ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193	T;T;T	0.79247	-1.08;-1.25;-1.2	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.82430	0.5035	L	0.48642	1.525	0.41798	D	0.989908	D;D;D;D	0.65815	0.995;0.978;0.991;0.991	P;P;P;P	0.56127	0.63;0.738;0.792;0.714	D	0.84463	0.0595	10	0.87932	D	0	-17.8157	18.9316	0.92568	0.0:0.0:1.0:0.0	.	41;41;41;41	Q8IWP7;F5H5U9;Q70T25;Q9HCX4	.;.;.;TRPC7_HUMAN	M	41	ENSP00000347312:T41M;ENSP00000441628:T41M;ENSP00000426070:T41M	ENSP00000265193:T41M	T	-	2	0	TRPC7	135720853	1.000000	0.71417	0.962000	0.40283	0.952000	0.60782	7.831000	0.86748	2.691000	0.91804	0.655000	0.94253	ACG		0.602	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389	
PCDHGA6	56109	broad.mit.edu	37	5	140754770	140754770	+	Nonsense_Mutation	SNP	C	C	T			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr5:140754770C>T	ENST00000517434.1	+	1	1120	c.1120C>T	c.(1120-1122)Cga>Tga	p.R374*	PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	374	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGTTCGATCGAGACTCTGG	0.428																																						uc003ljy.1																			0				breast(1)	1						c.(1120-1122)CGA>TGA		protocadherin gamma subfamily A, 6 isoform 1							81.0	82.0	82.0					5																	140754770		1906	4133	6039	SO:0001587	stop_gained	56109				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140754770C>T	AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.1120C>T	5.37:g.140754770C>T	ENSP00000429601:p.Arg374*					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Nonsense_Mutation_p.R374*	p.R374*	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1120	+			374			Cadherin 4.|Extracellular (Potential).		A6H8K7|B2RN55|Q9Y5D1	Nonsense_Mutation	SNP	ENST00000517434.1	37	c.1120C>T	CCDS54926.1	.	.	.	.	.	.	.	.	.	.	.	14.09	2.430445	0.43122	.	.	ENSG00000253731	ENST00000517434	.	.	.	5.25	2.19	0.27852	.	0.264887	0.18545	U	0.138098	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.0177	0.36179	0.4868:0.4392:0.0:0.0739	.	.	.	.	X	374	.	ENSP00000429601:R374X	R	+	1	2	PCDHGA6	140734954	0.000000	0.05858	0.774000	0.31636	0.122000	0.20287	-3.187000	0.00566	0.827000	0.34685	0.655000	0.94253	CGA		0.428	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919	
FBXO38	81545	broad.mit.edu	37	5	147807296	147807296	+	Silent	SNP	C	C	T			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr5:147807296C>T	ENST00000340253.5	+	15	2607	c.2439C>T	c.(2437-2439)tcC>tcT	p.S813S	FBXO38_ENST00000513826.1_Intron|CTD-2283N19.1_ENST00000520980.2_RNA|FBXO38_ENST00000296701.6_Intron|FBXO38_ENST00000394370.3_Intron			Q6PIJ6	FBX38_HUMAN	F-box protein 38	813					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACGAGATCCGCCTTTTCCT	0.567																																						uc003lpf.1																			0				ovary(4)|skin(2)	6						c.(2437-2439)TCC>TCT		F-box protein 38 isoform b							50.0	47.0	48.0					5																	147807296		2203	4300	6503	SO:0001819	synonymous_variant	81545					cytoplasm|nucleus		g.chr5:147807296C>T	BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"""F-boxes /  ""other"""""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.2439C>T	5.37:g.147807296C>T						FBXO38_uc003lpg.1_Intron|FBXO38_uc003lph.2_Intron	p.S813S	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		15	2559	+			813					Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Silent	SNP	ENST00000340253.5	37	c.2439C>T																																																																																					0.567	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793	
MTFR2	113115	broad.mit.edu	37	6	136554632	136554632	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr6:136554632G>A	ENST00000420702.1	-	7	1264	c.875C>T	c.(874-876)cCt>cTt	p.P292L	MTFR2_ENST00000451457.2_Missense_Mutation_p.P292L	NM_001099286.1	NP_001092756.1	Q6P444	MTFR2_HUMAN	mitochondrial fission regulator 2	292					aerobic respiration (GO:0009060)|mitochondrial fission (GO:0000266)|mitochondrion organization (GO:0007005)	mitochondrion (GO:0005739)											TCTACCGCCAGGTGACCtatt	0.318																																						uc010kgp.1																			0				skin(1)	1						c.(874-876)CCT>CTT		DUF729 domain containing 1							35.0	39.0	37.0					6																	136554632		2201	4296	6497	SO:0001583	missense	113115							g.chr6:136554632G>A	BC011716	CCDS5176.1	6q23.2	2012-11-30	2012-11-29	2012-11-29	ENSG00000146410	ENSG00000146410			21115	protein-coding gene	gene with protein product			"""DUF729 domain containing 1"", ""family with sequence similarity 54, member A"""	DUFD1, FAM54A			Standard	NM_138419		Approved		uc003qgt.1	Q6P444	OTTHUMG00000015643	ENST00000420702.1:c.875C>T	6.37:g.136554632G>A	ENSP00000395232:p.Pro292Leu					FAM54A_uc003qgt.1_Missense_Mutation_p.P292L|FAM54A_uc003qgu.1_Missense_Mutation_p.P249L	p.P292L	NM_001099286	NP_001092756	Q6P444	FA54A_HUMAN		GBM - Glioblastoma multiforme(68;0.00228)|OV - Ovarian serous cystadenocarcinoma(155;0.00504)	7	1265	-	Colorectal(23;0.24)		292					A8K8D8|E1P585|Q5JWR7|Q6ZUE8|Q7L3U6|Q9BZ39	Missense_Mutation	SNP	ENST00000420702.1	37	c.875C>T	CCDS5176.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.239268	0.79800	.	.	ENSG00000146410	ENST00000451457;ENST00000420702	T;T	0.54866	0.55;0.55	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.65565	0.2703	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.67833	-0.5568	10	0.87932	D	0	-21.8913	18.3566	0.90359	0.0:0.0:1.0:0.0	.	292	Q6P444	FA54A_HUMAN	L	292	ENSP00000407010:P292L;ENSP00000395232:P292L	ENSP00000395232:P292L	P	-	2	0	FAM54A	136596325	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	6.817000	0.75252	2.632000	0.89209	0.561000	0.74099	CCT		0.318	MTFR2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042378.2	NM_138419	
SDK1	221935	broad.mit.edu	37	7	3991529	3991529	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr7:3991529C>T	ENST00000404826.2	+	7	1266	c.1127C>T	c.(1126-1128)gCg>gTg	p.A376V	SDK1_ENST00000389531.3_Missense_Mutation_p.A376V	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	376	Ig-like C2-type 3.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCGGCCAGGGCGACGGCCTTT	0.577																																						uc003smx.2																			0				large_intestine(3)|ovary(2)|skin(1)	6						c.(1126-1128)GCG>GTG		sidekick 1 precursor							29.0	32.0	31.0					7																	3991529		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:3991529C>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.1127C>T	7.37:g.3991529C>T	ENSP00000385899:p.Ala376Val						p.A376V	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	7	1266	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	376			Ig-like C2-type 3.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.1127C>T	CCDS34590.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.89|17.89	3.498583|3.498583	0.64298|0.64298	.|.	.|.	ENSG00000146555|ENSG00000146555	ENST00000404826;ENST00000389531|ENST00000426596	T;T|.	0.29917|.	1.55;1.55|.	4.87|4.87	4.87|4.87	0.63330|0.63330	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);|.	0.077913|.	0.49916|.	D|.	0.000133|.	D|.	0.83124|.	0.5186|.	M|M	0.88105|0.88105	2.93|2.93	0.49299|0.49299	D|D	0.999773|0.999773	D|.	0.56035|.	0.974|.	B|.	0.41894|.	0.369|.	D|.	0.86165|.	0.1596|.	10|.	0.66056|.	D|.	0.02|.	.|.	16.5463|16.5463	0.84446|0.84446	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	376|.	Q7Z5N4|.	SDK1_HUMAN|.	V|X	376|95	ENSP00000385899:A376V;ENSP00000374182:A376V|.	ENSP00000374182:A376V|.	A|R	+|+	2|1	0|2	SDK1|SDK1	3958055|3958055	1.000000|1.000000	0.71417|0.71417	0.072000|0.072000	0.20136|0.20136	0.030000|0.030000	0.12068|0.12068	5.850000|5.850000	0.69473|0.69473	2.410000|2.410000	0.81850|0.81850	0.655000|0.655000	0.94253|0.94253	GCG|CGA		0.577	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744	
CALCR	799	broad.mit.edu	37	7	93055883	93055883	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr7:93055883G>A	ENST00000394441.1	-	13	1525	c.1210C>T	c.(1210-1212)Cgc>Tgc	p.R404C	CALCR_ENST00000426151.1_Missense_Mutation_p.R404C|CALCR_ENST00000359558.2_Missense_Mutation_p.R438C|CALCR_ENST00000360249.4_Missense_Mutation_p.R420C|CALCR_ENST00000421592.1_Missense_Mutation_p.R420C	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	438					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.R438C(1)|p.R404C(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	GCCCATTGGCGCTTCACGGTG	0.537																																						uc003umv.1																			2	Substitution - Missense(2)		endometrium(2)	ovary(3)|lung(3)|skin(2)|pancreas(1)	9						c.(1312-1314)CGC>TGC		calcitonin receptor isoform 2 precursor	Salmon Calcitonin(DB00017)						33.0	37.0	35.0					7																	93055883		2203	4300	6503	SO:0001583	missense	799				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding	g.chr7:93055883G>A	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.1210C>T	7.37:g.93055883G>A	ENSP00000377959:p.Arg404Cys					CALCR_uc011kia.1_Missense_Mutation_p.R218C|CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Missense_Mutation_p.R404C|CALCR_uc003umw.2_Missense_Mutation_p.R404C	p.R438C	NM_001742	NP_001733	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		15	1573	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		420			Cytoplasmic (Potential).		A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	ENST00000394441.1	37	c.1312C>T	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.805196	0.50315	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000394441;ENST00000426151	T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2	4.78	3.83	0.44106	.	.	.	.	.	T	0.78483	0.4290	M	0.85542	2.76	0.80722	D	1	D;D	0.89917	1.0;0.995	D;P	0.97110	1.0;0.679	T	0.80336	-0.1425	9	0.87932	D	0	.	9.7877	0.40686	0.0:0.0:0.7949:0.2051	.	438;404	F5H605;A4D1G6	.;.	C	438;420;420;404;404	ENSP00000352561:R438C;ENSP00000353385:R420C;ENSP00000399552:R420C;ENSP00000377959:R404C;ENSP00000389295:R404C	ENSP00000352561:R438C	R	-	1	0	CALCR	92893819	1.000000	0.71417	1.000000	0.80357	0.321000	0.28281	2.210000	0.42816	2.669000	0.90835	0.585000	0.79938	CGC		0.537	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742	
KIAA1549	57670	broad.mit.edu	37	7	138593736	138593736	+	Splice_Site	SNP	C	C	A			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr7:138593736C>A	ENST00000422774.1	-	5	3325		c.e5+1		KIAA1549_ENST00000242365.4_Splice_Site|KIAA1549_ENST00000440172.1_Splice_Site			Q9HCM3	K1549_HUMAN	KIAA1549							integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GATATTCTCACCTGCACCGTG	0.468			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	uc011kql.1				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(229)	0				central_nervous_system(229)|pancreas(1)	230						c.e5+1		hypothetical protein LOC57670 isoform 1							93.0	93.0	93.0					7																	138593736		1943	4143	6086	SO:0001630	splice_region_variant	57670					integral to membrane		g.chr7:138593736C>A		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.3276+1G>T	7.37:g.138593736C>A						KIAA1549_uc003vuk.3_Splice_Site_p.Q1042_splice|KIAA1549_uc011kqj.1_Splice_Site_p.Q1092_splice	p.Q1092_splice	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN			5	3325	-								B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Splice_Site	SNP	ENST00000422774.1	37	c.3276_splice	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.370678	0.61624	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	.	.	.	4.73	4.73	0.59995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2234	0.86963	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA1549	138244276	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	7.249000	0.78278	2.603000	0.88011	0.585000	0.79938	.		0.468	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1		Intron
PRKAG2	51422	broad.mit.edu	37	7	151261177	151261177	+	Missense_Mutation	SNP	A	A	T			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr7:151261177A>T	ENST00000287878.4	-	14	2075	c.1571T>A	c.(1570-1572)aTa>aAa	p.I524K	PRKAG2_ENST00000392801.2_Missense_Mutation_p.I480K|PRKAG2_ENST00000418337.2_Missense_Mutation_p.I283K|PRKAG2_ENST00000433631.2_Missense_Mutation_p.I399K|PRKAG2_ENST00000492843.1_Missense_Mutation_p.I400K	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	524	CBS 4. {ECO:0000255|PROSITE- ProRule:PRU00703}.				ATP biosynthetic process (GO:0006754)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|glycogen metabolic process (GO:0005977)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase activity (GO:0045860)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid metabolic process (GO:0019217)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose import (GO:0046324)|regulation of glycolytic process (GO:0006110)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|phosphorylase kinase regulator activity (GO:0008607)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	Acetylsalicylic acid(DB00945)	AGCTCTTACTATTCTGTCCAC	0.517																																						uc003wkk.2																			0				breast(1)|kidney(1)	2						c.(1570-1572)ATA>AAA		AMP-activated protein kinase gamma2 subunit							211.0	194.0	200.0					7																	151261177		2203	4300	6503	SO:0001583	missense	51422				ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding	g.chr7:151261177A>T	AF087875	CCDS5928.1, CCDS43683.1, CCDS47752.1	7q35-q36	2014-09-17			ENSG00000106617	ENSG00000106617			9386	protein-coding gene	gene with protein product	"""AMPK gamma2"""	602743				8557660, 8621499	Standard	NM_024429		Approved	AAKG, AAKG2, H91620p, WPWS, CMH6	uc003wkk.3	Q9UGJ0	OTTHUMG00000157324	ENST00000287878.4:c.1571T>A	7.37:g.151261177A>T	ENSP00000287878:p.Ile524Lys					PRKAG2_uc003wki.2_Missense_Mutation_p.I283K|PRKAG2_uc011kvl.1_Missense_Mutation_p.I399K|PRKAG2_uc003wkj.2_Missense_Mutation_p.I480K|PRKAG2_uc003wkl.2_Missense_Mutation_p.I72K	p.I524K	NM_016203	NP_057287	Q9UGJ0	AAKG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	14	2182	-	all_neural(206;0.187)	all_hematologic(28;0.0605)	524			CBS 4.		Q53Y07|Q6NUI0|Q75MP4|Q9NUZ9|Q9UDN8|Q9ULX8	Missense_Mutation	SNP	ENST00000287878.4	37	c.1571T>A	CCDS5928.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.121378	0.77436	.	.	ENSG00000106617	ENST00000418337;ENST00000287878;ENST00000492843;ENST00000433631;ENST00000392801	D;D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97;-2.97	5.95	5.95	0.96441	Aldolase-type TIM barrel (1);Cystathionine beta-synthase, core (3);	0.000000	0.85682	D	0.000000	D	0.96876	0.8980	M	0.92317	3.295	0.80722	D	1	D;D;D	0.69078	0.997;0.988;0.997	D;D;D	0.71656	0.968;0.974;0.953	D	0.97709	1.0189	10	0.87932	D	0	.	15.6048	0.76658	1.0:0.0:0.0:0.0	.	399;57;524	B7Z6X8;Q5H9N7;Q9UGJ0	.;.;AAKG2_HUMAN	K	283;524;400;399;480	ENSP00000387386:I283K;ENSP00000287878:I524K;ENSP00000419577:I400K;ENSP00000406544:I399K;ENSP00000376549:I480K	ENSP00000287878:I524K	I	-	2	0	PRKAG2	150892110	1.000000	0.71417	0.892000	0.35008	0.412000	0.31113	9.097000	0.94193	2.279000	0.76181	0.533000	0.62120	ATA		0.517	PRKAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348440.2	NM_016203	
FRMD3	257019	broad.mit.edu	37	9	85913683	85913683	+	Silent	SNP	C	C	T			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr9:85913683C>T	ENST00000304195.3	-	12	1256	c.1050G>A	c.(1048-1050)agG>agA	p.R350R	FRMD3_ENST00000376438.1_Silent_p.R350R|FRMD3_ENST00000376434.1_Silent_p.R156R	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	350						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						CAGGAGGCTCCCTCTGGATCT	0.493																																						uc004ams.1																			0				ovary(1)|central_nervous_system(1)	2						c.(1048-1050)AGG>AGA		FERM domain containing 3							82.0	82.0	82.0					9																	85913683		1967	4163	6130	SO:0001819	synonymous_variant	257019					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	g.chr9:85913683C>T	AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.1050G>A	9.37:g.85913683C>T						FRMD3_uc004amr.1_Silent_p.R336R	p.R350R	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN			12	1252	-			350					A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Silent	SNP	ENST00000304195.3	37	c.1050G>A	CCDS43840.1																																																																																				0.493	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157355.1	NM_174938	
LRRC8A	56262	broad.mit.edu	37	9	131669841	131669841	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr9:131669841C>T	ENST00000259324.5	+	3	921	c.398C>T	c.(397-399)aCg>aTg	p.T133M	LRRC8A_ENST00000372599.3_Missense_Mutation_p.T133M|LRRC8A_ENST00000372600.4_Missense_Mutation_p.T133M	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	133					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						CTTCTGCACACGCTCATCTTC	0.557																																						uc004bwl.3																			0					0						c.(397-399)ACG>ATG		leucine rich repeat containing 8 family, member							114.0	107.0	109.0					9																	131669841		2203	4300	6503	SO:0001583	missense	56262				pre-B cell differentiation	integral to membrane		g.chr9:131669841C>T	AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"""leucine rich repeat containing 8"""	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.398C>T	9.37:g.131669841C>T	ENSP00000259324:p.Thr133Met					LRRC8A_uc010myp.2_Missense_Mutation_p.T133M|LRRC8A_uc010myq.2_Missense_Mutation_p.T133M	p.T133M	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN			3	652	+			133			Helical; (Potential).		Q6UXM2|Q8NCI0|Q9P2B1	Missense_Mutation	SNP	ENST00000259324.5	37	c.398C>T	CCDS35155.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.401023	0.62288	.	.	ENSG00000136802	ENST00000372600;ENST00000372599;ENST00000259324	T;T;T	0.36878	1.23;1.23;1.23	5.17	5.17	0.71159	Leucine-rich repeat-containing protein 8, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.56934	0.2019	L	0.52905	1.665	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.59742	-0.7397	10	0.87932	D	0	.	17.6579	0.88183	0.0:1.0:0.0:0.0	.	133	Q8IWT6	LRC8A_HUMAN	M	133	ENSP00000361682:T133M;ENSP00000361680:T133M;ENSP00000259324:T133M	ENSP00000259324:T133M	T	+	2	0	LRRC8A	130709662	1.000000	0.71417	0.985000	0.45067	0.977000	0.68977	7.818000	0.86416	2.421000	0.82119	0.563000	0.77884	ACG		0.557	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054516.2	NM_019594	
