#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CLSTN1	22883	broad.mit.edu	37	1	9804060	9804060	+	Missense_Mutation	SNP	A	A	T			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr1:9804060A>T	ENST00000377298.4	-	9	2030	c.1238T>A	c.(1237-1239)aTg>aAg	p.M413K	CLSTN1_ENST00000361311.4_Missense_Mutation_p.M403K|CLSTN1_ENST00000377288.3_Missense_Mutation_p.M413K	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	413					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		GTGCCGATTCATATCTGCAAA	0.438																																						ENST00000377298.4																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						c.(1237-1239)aTg>aAg		calsyntenin 1							88.0	95.0	93.0					1																	9804060		2203	4300	6503	SO:0001583	missense	22883				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding	g.chr1:9804060A>T	AB020718	CCDS105.1, CCDS30580.1	1p36.22	2011-07-01			ENSG00000171603	ENSG00000171603		"""Cadherins / Cadherin-related"""	17447	protein-coding gene	gene with protein product	"""cadherin-related family member 12"""	611321				10048485	Standard	XM_005263432		Approved	CSTN1, KIAA0911, CDHR12	uc001aqh.3	O94985	OTTHUMG00000001451	ENST00000377298.4:c.1238T>A	1.37:g.9804060A>T	ENSP00000366513:p.Met413Lys		Somatic				CLSTN1_ENST00000361311.4_Missense_Mutation_p.M403K|CLSTN1_ENST00000377288.3_Missense_Mutation_p.M413K	p.M413K	NM_001009566.1	NP_001009566.1	WXS	Illumina GAIIx	Phase_I	O94985	CSTN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)	9	2030	-	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	413					A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Missense_Mutation	SNP	ENST00000377298.4	37	c.1238T>A	CCDS30580.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.009951	0.75046	.	.	ENSG00000171603	ENST00000377298;ENST00000361311;ENST00000435891;ENST00000377288;ENST00000539822	T;T;T;T	0.02067	4.47;4.47;4.47;4.47	5.66	4.51	0.55191	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.037233	0.85682	D	0.000000	T	0.08537	0.0212	M	0.69248	2.105	0.80722	D	1	D;D;D	0.61080	0.989;0.986;0.989	P;P;P	0.58721	0.844;0.758;0.844	T	0.03221	-1.1059	10	0.51188	T	0.08	-46.8057	13.0661	0.59034	0.8657:0.1343:0.0:0.0	.	413;403;413	B4E3Q1;O94985-2;O94985	.;.;CSTN1_HUMAN	K	413;403;233;413;413	ENSP00000366513:M413K;ENSP00000354997:M403K;ENSP00000401934:M233K;ENSP00000366502:M413K	ENSP00000354997:M403K	M	-	2	0	CLSTN1	9726647	1.000000	0.71417	0.992000	0.48379	0.675000	0.39556	6.212000	0.72188	1.039000	0.40074	0.533000	0.62120	ATG		0.438	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004239.1			24	33	24	33	---	---	---	---
POMGNT1	55624	broad.mit.edu	37	1	46663480	46663480	+	Missense_Mutation	SNP	T	T	G			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr1:46663480T>G	ENST00000371984.3	-	2	171	c.14A>C	c.(13-15)aAg>aCg	p.K5T	POMGNT1_ENST00000396420.3_Missense_Mutation_p.K5T|POMGNT1_ENST00000371992.1_Missense_Mutation_p.K5T|POMGNT1_ENST00000535522.1_5'Flank|POMGNT1_ENST00000371986.3_Missense_Mutation_p.K5T	NM_017739.3	NP_060209	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	5					protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					GGGGCTGGGCTTCCAGTCGTC	0.582																																						ENST00000396420.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(13-15)aAg>aCg		protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)							60.0	62.0	62.0					1																	46663480		2203	4300	6503	SO:0001583	missense	55624				protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity	g.chr1:46663480T>G		CCDS531.1, CCDS57995.1	1p34.1	2014-09-17	2013-07-31		ENSG00000085998	ENSG00000085998	2.4.1.-	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	19139	protein-coding gene	gene with protein product	"""protein O-mannose beta-1,2-N-acetylglucosaminyltransferase"""	606822	"""muscle-eye-brain disease"", ""protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase"""	MEB		11742540, 12788071	Standard	NM_017739		Approved	FLJ20277, MGAT1.2, LGMD2O	uc001cpg.3	Q8WZA1	OTTHUMG00000007604	ENST00000371984.3:c.14A>C	1.37:g.46663480T>G	ENSP00000361052:p.Lys5Thr		Somatic				POMGNT1_ENST00000371986.3_Missense_Mutation_p.K5T|POMGNT1_ENST00000371992.1_Missense_Mutation_p.K5T|POMGNT1_ENST00000371984.3_Missense_Mutation_p.K5T	p.K5T			WXS	Illumina GAIIx	Phase_I	Q8WZA1	PMGT1_HUMAN			2	650	-	Acute lymphoblastic leukemia(166;0.155)		5					D3DQ16|Q5VST2|Q5VST3|Q9BV55|Q9H9L8|Q9NXF9|Q9NYF7	Missense_Mutation	SNP	ENST00000371984.3	37	c.14A>C	CCDS531.1	.	.	.	.	.	.	.	.	.	.	T	16.34	3.094644	0.56075	.	.	ENSG00000085998	ENST00000396420;ENST00000371984;ENST00000371992;ENST00000371986	T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97	5.43	5.43	0.79202	.	0.224762	0.53938	D	0.000058	T	0.59797	0.2220	N	0.16307	0.4	0.37977	D	0.933467	B;B;B	0.13145	0.007;0.005;0.003	B;B;B	0.14578	0.011;0.005;0.003	T	0.58329	-0.7655	10	0.21014	T	0.42	-21.7741	15.4786	0.75504	0.0:0.0:0.0:1.0	.	5;5;5	Q68CV6;Q5VST3;Q8WZA1	.;.;PMGT1_HUMAN	T	5	ENSP00000379698:K5T;ENSP00000361052:K5T;ENSP00000361060:K5T;ENSP00000361054:K5T	ENSP00000361052:K5T	K	-	2	0	POMGNT1	46436067	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.048000	0.71046	2.056000	0.61249	0.533000	0.62120	AAG		0.582	POMGNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020146.1	NM_017739		32	44	32	44	---	---	---	---
OLFML3	56944	broad.mit.edu	37	1	114524076	114524076	+	Missense_Mutation	SNP	T	T	G			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr1:114524076T>G	ENST00000320334.4	+	3	980	c.906T>G	c.(904-906)gaT>gaG	p.D302E	OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000393300.2_Missense_Mutation_p.D282E|OLFML3_ENST00000369551.1_Missense_Mutation_p.D282E	NM_020190.2	NP_064575.1	Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	302	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)|vesicle (GO:0031982)				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCAAGTTAGATCCACAGACAC	0.547																																						ENST00000369551.1																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14						c.(844-846)gaT>gaG		olfactomedin-like 3							99.0	82.0	87.0					1																	114524076		2203	4300	6503	SO:0001583	missense	56944				multicellular organismal development	extracellular region		g.chr1:114524076T>G	AF201945	CCDS870.1, CCDS65618.1, CCDS72839.1	1p13.1	2008-02-05			ENSG00000116774	ENSG00000116774			24956	protein-coding gene	gene with protein product		610088					Standard	NM_001286353		Approved	HNOEL-iso, OLF44	uc001eer.1	Q9NRN5	OTTHUMG00000011980	ENST00000320334.4:c.906T>G	1.37:g.114524076T>G	ENSP00000322273:p.Asp302Glu		Somatic				OLFML3_ENST00000320334.4_Missense_Mutation_p.D302E|OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000393300.2_Missense_Mutation_p.D282E	p.D282E			WXS	Illumina GAIIx	Phase_I	Q9NRN5	OLFL3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	1134	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	302			Olfactomedin-like.		Q53FR1|Q53HV9|Q5SQL6|Q69AX9|Q8NBJ2	Missense_Mutation	SNP	ENST00000320334.4	37	c.846T>G	CCDS870.1	.	.	.	.	.	.	.	.	.	.	T	16.14	3.037802	0.54896	.	.	ENSG00000116774	ENST00000369551;ENST00000320334;ENST00000393300	D;D;D	0.90676	-2.71;-2.71;-2.71	5.96	1.56	0.23342	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	T	0.81235	0.4780	L	0.59967	1.855	0.80722	D	1	P;P	0.51537	0.946;0.757	B;B	0.43155	0.41;0.334	T	0.76634	-0.2887	10	0.32370	T	0.25	.	9.4195	0.38541	0.0:0.6642:0.0:0.3358	.	282;302	Q9NRN5-2;Q9NRN5	.;OLFL3_HUMAN	E	282;302;282	ENSP00000358564:D282E;ENSP00000322273:D302E;ENSP00000376977:D282E	ENSP00000322273:D302E	D	+	3	2	OLFML3	114325599	0.958000	0.32768	1.000000	0.80357	0.995000	0.86356	0.213000	0.17521	0.278000	0.22164	0.533000	0.62120	GAT		0.547	OLFML3-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033119.1	NM_020190		12	54	12	54	---	---	---	---
TBX15	6913	broad.mit.edu	37	1	119428032	119428032	+	Missense_Mutation	SNP	C	C	G			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr1:119428032C>G	ENST00000369429.3	-	8	1141	c.1132G>C	c.(1132-1134)Gcc>Ccc	p.A378P	TBX15_ENST00000207157.3_Missense_Mutation_p.A272P			Q96SF7	TBX15_HUMAN	T-box 15	378					embryonic cranial skeleton morphogenesis (GO:0048701)	Tle3-Aes complex (GO:0070722)	RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		GTGTTGGGGGCCAGATGAAAA	0.522																																						ENST00000369429.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37						c.(1132-1134)Gcc>Ccc		T-box 15							38.0	43.0	41.0					1																	119428032		2203	4300	6503	SO:0001583	missense	6913					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:119428032C>G	AK127536	CCDS30816.1	1p11.1	2008-02-05	2004-10-05		ENSG00000092607	ENSG00000092607		"""T-boxes"""	11594	protein-coding gene	gene with protein product		604127	"""T-box 14"""	TBX14		9693034	Standard	XM_005271162		Approved		uc001ehl.1	Q96SF7	OTTHUMG00000012263	ENST00000369429.3:c.1132G>C	1.37:g.119428032C>G	ENSP00000358437:p.Ala378Pro		Somatic				TBX15_ENST00000207157.3_Missense_Mutation_p.A272P	p.A378P			WXS	Illumina GAIIx	Phase_I	Q96SF7	TBX15_HUMAN		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)	8	1141	-	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)	378					Q08E76|Q5JT54|Q5T9S7	Missense_Mutation	SNP	ENST00000369429.3	37	c.1132G>C		.	.	.	.	.	.	.	.	.	.	C	3.616	-0.078516	0.07184	.	.	ENSG00000092607	ENST00000344218;ENST00000207157;ENST00000369429;ENST00000449873;ENST00000393149	T;T;T	0.73469	-0.75;-0.75;-0.75	5.67	5.67	0.87782	.	0.060715	0.64402	D	0.000004	T	0.36303	0.0962	N	0.13235	0.315	0.47183	D	0.999348	B;B	0.12630	0.006;0.001	B;B	0.11329	0.006;0.004	T	0.32851	-0.9891	10	0.10636	T	0.68	.	9.5506	0.39308	0.0:0.7824:0.1436:0.074	.	175;378	E9PCG3;Q96SF7	.;TBX15_HUMAN	P	175;272;378;106;105	ENSP00000207157:A272P;ENSP00000358437:A378P;ENSP00000398625:A106P	ENSP00000207157:A272P	A	-	1	0	TBX15	119229555	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.547000	0.60712	2.686000	0.91538	0.561000	0.74099	GCC		0.522	TBX15-002	PUTATIVE	not_organism_supported|upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000034351.1	NM_152380		6	32	6	32	---	---	---	---
GPA33	10223	broad.mit.edu	37	1	167038355	167038355	+	Silent	SNP	C	C	T	rs144380186		TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr1:167038355C>T	ENST00000367868.3	-	3	562	c.219G>A	c.(217-219)ccG>ccA	p.P73P	GPA33_ENST00000527955.1_5'UTR	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	73	Ig-like V-type.					extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TGTTTGAAAACGGCCAGATGA	0.507													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16036	0.0		0.0	False		,,,				2504	0.0					ENST00000367868.3																			0				endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(217-219)ccG>ccA		glycoprotein A33 (transmembrane)		C		11,4395	17.9+/-39.9	0,11,2192	93.0	87.0	89.0		219	-11.3	0.0	1	dbSNP_134	89	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GPA33	NM_005814.1		0,12,6491	TT,TC,CC		0.0116,0.2497,0.0923		73/320	167038355	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	10223					integral to plasma membrane	receptor activity	g.chr1:167038355C>T	U79725	CCDS1258.1	1q24.1	2013-01-29			ENSG00000143167	ENSG00000143167		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	4445	protein-coding gene	gene with protein product		602171				9012807, 9245713	Standard	NM_005814		Approved	A33	uc001gea.1	Q99795	OTTHUMG00000034435	ENST00000367868.3:c.219G>A	1.37:g.167038355C>T			Somatic				GPA33_ENST00000527955.1_5'UTR	p.P73P	NM_005814.1	NP_005805.1	WXS	Illumina GAIIx	Phase_I	Q99795	GPA33_HUMAN			3	562	-			73			Ig-like V-type.		Q5VZP6	Silent	SNP	ENST00000367868.3	37	c.219G>A	CCDS1258.1																																																																																				0.507	GPA33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083245.1	NM_005814		13	19	13	19	---	---	---	---
PLA2G4A	5321	broad.mit.edu	37	1	186925324	186925324	+	Nonsense_Mutation	SNP	C	C	G			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr1:186925324C>G	ENST00000367466.3	+	14	1579	c.1427C>G	c.(1426-1428)tCa>tGa	p.S476*	PLA2G4A_ENST00000442353.2_Nonsense_Mutation_p.S416*	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	476	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	GTGAGTGATTCAGCTTTATTC	0.418																																						ENST00000367466.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53						c.(1426-1428)tCa>tGa		phospholipase A2, group IVA (cytosolic, calcium-dependent)	Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)						154.0	137.0	143.0					1																	186925324		2203	4300	6503	SO:0001587	stop_gained	5321				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr1:186925324C>G	M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.1427C>G	1.37:g.186925324C>G	ENSP00000356436:p.Ser476*		Somatic				PLA2G4A_ENST00000442353.2_Nonsense_Mutation_p.S416*	p.S476*	NM_024420.2	NP_077734	WXS	Illumina GAIIx	Phase_I	P47712	PA24A_HUMAN			14	1579	+			476			PLA2c.		B1AKG4|Q29R80	Nonsense_Mutation	SNP	ENST00000367466.3	37	c.1427C>G	CCDS1372.1	.	.	.	.	.	.	.	.	.	.	C	38	6.814899	0.97857	.	.	ENSG00000116711	ENST00000367466;ENST00000442353	.	.	.	5.45	5.45	0.79879	.	0.179711	0.49916	D	0.000129	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-16.0726	14.9864	0.71351	0.0:0.8472:0.1528:0.0	.	.	.	.	X	476;416	.	ENSP00000356436:S476X	S	+	2	0	PLA2G4A	185191947	1.000000	0.71417	0.282000	0.24776	0.955000	0.61496	5.814000	0.69208	2.725000	0.93324	0.655000	0.94253	TCA		0.418	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420		22	30	22	30	---	---	---	---
PTPRC	5788	broad.mit.edu	37	1	198713285	198713285	+	Missense_Mutation	SNP	A	A	C			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr1:198713285A>C	ENST00000367376.2	+	26	2965	c.2794A>C	c.(2794-2796)Aaa>Caa	p.K932Q	PTPRC_ENST00000442510.2_Missense_Mutation_p.K934Q|PTPRC_ENST00000348564.6_Missense_Mutation_p.K773Q|PTPRC_ENST00000594404.1_Missense_Mutation_p.K771Q|PTPRC_ENST00000352140.3_Missense_Mutation_p.K884Q	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	932					axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TAACATGAAGAAAAGGGATCC	0.378																																						ENST00000367376.2																			0				breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						c.(2794-2796)Aaa>Caa		protein tyrosine phosphatase, receptor type, C							85.0	80.0	82.0					1																	198713285		2202	4298	6500	SO:0001583	missense	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198713285A>C	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.2794A>C	1.37:g.198713285A>C	ENSP00000356346:p.Lys932Gln		Somatic				PTPRC_ENST00000594404.1_Missense_Mutation_p.K771Q|PTPRC_ENST00000352140.3_Missense_Mutation_p.K884Q|PTPRC_ENST00000348564.6_Missense_Mutation_p.K773Q|PTPRC_ENST00000442510.2_Missense_Mutation_p.K934Q	p.K932Q	NM_002838.4	NP_002829.3	WXS	Illumina GAIIx	Phase_I	P08575	PTPRC_HUMAN			26	2965	+			932					A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37	c.2794A>C		.	.	.	.	.	.	.	.	.	.	A	12.71	2.020906	0.35606	.	.	ENSG00000081237	ENST00000367376;ENST00000352140;ENST00000442510;ENST00000348564	T	0.14022	2.54	5.78	5.78	0.91487	.	0.000000	0.52532	D	0.000069	T	0.08758	0.0217	N	0.17474	0.49	0.38002	D	0.934276	B;P;B	0.34462	0.264;0.454;0.264	B;B;B	0.37601	0.186;0.254;0.186	T	0.23583	-1.0184	10	0.07813	T	0.8	.	11.2273	0.48890	0.8633:0.0:0.0:0.1367	.	773;884;932	B1ALS3;E9PC28;P08575	.;.;PTPRC_HUMAN	Q	934;884;932;771	ENSP00000193532:K884Q	ENSP00000306782:K771Q	K	+	1	0	PTPRC	196979908	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	2.279000	0.43435	2.199000	0.70637	0.519000	0.50382	AAA		0.378	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				15	21	15	21	---	---	---	---
PPP2R5A	5525	broad.mit.edu	37	1	212515567	212515567	+	Missense_Mutation	SNP	C	C	G			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr1:212515567C>G	ENST00000261461.2	+	4	1092	c.518C>G	c.(517-519)cCt>cGt	p.P173R	PPP2R5A_ENST00000537030.3_Missense_Mutation_p.P116R|PPP2R5A_ENST00000498129.2_3'UTR	NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B', alpha	173					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of lipid kinase activity (GO:0090219)|positive regulation of protein dephosphorylation (GO:0035307)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|M band (GO:0031430)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)|Z disc (GO:0030018)	kinase binding (GO:0019900)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		TTGGAGAGCCCTGATTTCCAG	0.348																																						ENST00000261461.2																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16						c.(517-519)cCt>cGt		protein phosphatase 2, regulatory subunit B', alpha							130.0	124.0	126.0					1																	212515567		2203	4300	6503	SO:0001583	missense	5525				negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex	kinase binding|protein phosphatase type 2A regulator activity	g.chr1:212515567C>G	BC022474	CCDS1503.1, CCDS55686.1	1q32.2-q32.3	2010-06-18	2010-04-14		ENSG00000066027	ENSG00000066027		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9309	protein-coding gene	gene with protein product		601643	"""protein phosphatase 2, regulatory subunit B (B56), alpha isoform"", ""protein phosphatase 2, regulatory subunit B', alpha isoform"""			7592815	Standard	NM_006243		Approved	PR61A, B56A	uc001hjb.3	Q15172	OTTHUMG00000036750	ENST00000261461.2:c.518C>G	1.37:g.212515567C>G	ENSP00000261461:p.Pro173Arg		Somatic				PPP2R5A_ENST00000498129.2_3'UTR|PPP2R5A_ENST00000537030.3_Missense_Mutation_p.P116R	p.P173R	NM_006243.3	NP_006234.1	WXS	Illumina GAIIx	Phase_I	Q15172	2A5A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)	4	1092	+			173					B2R6D2|B7Z7L2|D3DT99|Q2NL72|Q5VVB2|Q8TBI9	Missense_Mutation	SNP	ENST00000261461.2	37	c.518C>G	CCDS1503.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.359211	0.82353	.	.	ENSG00000066027	ENST00000542178;ENST00000261461;ENST00000537030	.	.	.	5.86	5.86	0.93980	Armadillo-type fold (1);	0.046304	0.85682	N	0.000000	T	0.81059	0.4744	M	0.88181	2.935	0.58432	D	0.999998	P;P	0.43314	0.803;0.803	P;P	0.49252	0.604;0.604	D	0.83591	0.0123	9	0.72032	D	0.01	-11.9491	20.1837	0.98210	0.0:1.0:0.0:0.0	.	116;173	B7Z7L2;Q15172	.;2A5A_HUMAN	R	173;173;116	.	ENSP00000261461:P173R	P	+	2	0	PPP2R5A	210582190	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.769000	0.47654	2.774000	0.95407	0.650000	0.86243	CCT		0.348	PPP2R5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089302.1	NM_006243		48	72	48	72	---	---	---	---
SMYD2	56950	broad.mit.edu	37	1	214491465	214491465	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr1:214491465T>C	ENST00000366957.5	+	4	414	c.392T>C	c.(391-393)gTg>gCg	p.V131A	SMYD2_ENST00000491455.1_3'UTR|SMYD2_ENST00000415093.2_Missense_Mutation_p.V131A	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2	131	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|RNA polymerase II core binding (GO:0000993)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		TTGTTAGCTGTGAAGGAGTTT	0.448																																						ENST00000366957.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(391-393)gTg>gCg		SET and MYND domain containing 2							106.0	110.0	108.0					1																	214491465		2203	4300	6503	SO:0001583	missense	56950				negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	cytosol|nucleus	histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding	g.chr1:214491465T>C	AF226053	CCDS31022.1	1q32.3	2011-07-01			ENSG00000143499	ENSG00000143499		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20982	protein-coding gene	gene with protein product		610663					Standard	NM_020197		Approved	HSKM-B, ZMYND14, KMT3C	uc021pix.1	Q9NRG4	OTTHUMG00000037066	ENST00000366957.5:c.392T>C	1.37:g.214491465T>C	ENSP00000355924:p.Val131Ala		Somatic				SMYD2_ENST00000491455.1_3'UTR|SMYD2_ENST00000415093.2_Missense_Mutation_p.V131A	p.V131A	NM_020197.2	NP_064582.2	WXS	Illumina GAIIx	Phase_I	Q9NRG4	SMYD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)	4	414	+			131			SET.		B2R9P9|I6L9H7|Q4V765|Q5VSH9|Q96AI4	Missense_Mutation	SNP	ENST00000366957.5	37	c.392T>C	CCDS31022.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.423922	0.83667	.	.	ENSG00000143499	ENST00000366957;ENST00000415093	T;T	0.14640	2.49;2.49	5.62	5.62	0.85841	SET domain (2);	0.263700	0.38492	N	0.001674	T	0.26195	0.0639	L	0.39147	1.195	0.58432	D	0.999992	D;P	0.56968	0.978;0.94	P;P	0.62560	0.904;0.836	T	0.00883	-1.1528	10	0.31617	T	0.26	-1.5315	15.8248	0.78690	0.0:0.0:0.0:1.0	.	131;115	Q9NRG4;Q05C86	SMYD2_HUMAN;.	A	131	ENSP00000355924:V131A;ENSP00000388682:V131A	ENSP00000355924:V131A	V	+	2	0	SMYD2	212558088	1.000000	0.71417	0.998000	0.56505	0.933000	0.57130	6.987000	0.76206	2.140000	0.66376	0.459000	0.35465	GTG		0.448	SMYD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089998.1	NM_020197		31	52	31	52	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216251433	216251433	+	Missense_Mutation	SNP	T	T	G			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr1:216251433T>G	ENST00000307340.3	-	27	5956	c.5570A>C	c.(5569-5571)cAa>cCa	p.Q1857P	RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.Q1857P	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1857	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GAACTTACCTTGTTCCAAACA	0.458										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(5569-5571)cAa>cCa		Usher syndrome 2A (autosomal recessive, mild)							72.0	77.0	75.0					1																	216251433		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216251433T>G	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.5570A>C	1.37:g.216251433T>G	ENSP00000305941:p.Gln1857Pro	HNSCC(13;0.011)	Somatic				USH2A_ENST00000307340.3_Missense_Mutation_p.Q1857P|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA	p.Q1857P			WXS	Illumina GAIIx	Phase_I	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	27	5956	-			1857			Laminin G-like 2.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.5570A>C	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	15.80	2.941165	0.53079	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.78003	-1.14;-1.14	5.01	-2.47	0.06442	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.384731	0.18942	N	0.126915	T	0.64080	0.2566	L	0.43701	1.375	0.21841	N	0.999514	B	0.15141	0.012	B	0.16722	0.016	T	0.48547	-0.9026	10	0.27785	T	0.31	.	8.6101	0.33797	0.2134:0.0:0.4408:0.3458	.	1857	O75445	USH2A_HUMAN	P	1857	ENSP00000305941:Q1857P;ENSP00000355910:Q1857P	ENSP00000305941:Q1857P	Q	-	2	0	USH2A	214318056	1.000000	0.71417	0.478000	0.27316	0.911000	0.54048	1.443000	0.35057	-0.804000	0.04410	0.528000	0.53228	CAA		0.458	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		31	35	31	35	---	---	---	---
SEC22A	26984	broad.mit.edu	37	3	122990559	122990559	+	Missense_Mutation	SNP	A	A	C			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr3:122990559A>C	ENST00000309934.4	+	6	1810	c.914A>C	c.(913-915)tAt>tCt	p.Y305S	SEC22A_ENST00000492595.1_Missense_Mutation_p.Y305S|SEC22A_ENST00000481965.2_3'UTR	NM_012430.4	NP_036562.2	Q96IW7	SC22A_HUMAN	SEC22 vesicle trafficking protein homolog A (S. cerevisiae)	305					ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10				GBM - Glioblastoma multiforme(114;0.0548)		GCTCCCGATTATGATGTCTGA	0.493																																						ENST00000309934.4																			0				NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10						c.(913-915)tAt>tCt		SEC22 vesicle trafficking protein homolog A (S. cerevisiae)							62.0	55.0	57.0					3																	122990559		2203	4300	6503	SO:0001583	missense	26984				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane	transporter activity	g.chr3:122990559A>C	AF100749	CCDS3021.1	3q21.1	2006-04-25	2006-04-25	2006-04-25	ENSG00000121542	ENSG00000121542			20260	protein-coding gene	gene with protein product		612442	"""SEC22 vesicle trafficking protein-like 2 (S. cerevisiae)"""	SEC22L2		9094723, 9501016	Standard	NM_012430		Approved		uc003ege.3	Q96IW7	OTTHUMG00000159495	ENST00000309934.4:c.914A>C	3.37:g.122990559A>C	ENSP00000310521:p.Tyr305Ser		Somatic				SEC22A_ENST00000481965.2_3'UTR|SEC22A_ENST00000492595.1_Missense_Mutation_p.Y305S	p.Y305S	NM_012430.4	NP_036562.2	WXS	Illumina GAIIx	Phase_I	Q96IW7	SC22A_HUMAN		GBM - Glioblastoma multiforme(114;0.0548)	6	1810	+			305					B2RE26|Q9Y682	Missense_Mutation	SNP	ENST00000309934.4	37	c.914A>C	CCDS3021.1	.	.	.	.	.	.	.	.	.	.	A	19.50	3.839629	0.71488	.	.	ENSG00000121542	ENST00000492595;ENST00000309934	T;T	0.22539	1.95;1.95	5.84	5.84	0.93424	.	0.058484	0.64402	D	0.000001	T	0.28499	0.0705	M	0.77616	2.38	0.58432	D	0.999998	P	0.36065	0.535	B	0.34722	0.188	T	0.05273	-1.0895	10	0.27082	T	0.32	0.2936	16.2123	0.82170	1.0:0.0:0.0:0.0	.	305	Q96IW7	SC22A_HUMAN	S	305	ENSP00000417972:Y305S;ENSP00000310521:Y305S	ENSP00000310521:Y305S	Y	+	2	0	SEC22A	124473249	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	8.962000	0.93254	2.231000	0.72958	0.455000	0.32223	TAT		0.493	SEC22A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355770.2	NM_012430		14	22	14	22	---	---	---	---
PIK3CB	5291	broad.mit.edu	37	3	138417865	138417865	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr3:138417865C>T	ENST00000477593.1	-	12	1727	c.1654G>A	c.(1654-1656)Gaa>Aaa	p.E552K	PIK3CB_ENST00000289153.2_Missense_Mutation_p.E552K|PIK3CB_ENST00000544716.1_5'UTR			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	552	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|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)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)	p.E552K(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	ATTTCATTTTCACACAGTTGA	0.373																																						ENST00000477593.1																			1	Substitution - Missense(1)	p.E552K(1)	endometrium(1)	NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(1654-1656)Gaa>Aaa		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta							98.0	98.0	98.0					3																	138417865		2203	4300	6503	SO:0001583	missense	5291				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:138417865C>T		CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"""phosphoinositide-3-kinase, catalytic, beta polypeptide"""	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.1654G>A	3.37:g.138417865C>T	ENSP00000418143:p.Glu552Lys		Somatic				PIK3CB_ENST00000544716.1_5'UTR|PIK3CB_ENST00000289153.2_Missense_Mutation_p.E552K	p.E552K			WXS	Illumina GAIIx	Phase_I	P42338	PK3CB_HUMAN			12	1727	-			552			PI3K helical.		D3DNF0|Q24JU2	Missense_Mutation	SNP	ENST00000477593.1	37	c.1654G>A	CCDS3104.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.522909	0.85600	.	.	ENSG00000051382	ENST00000477593;ENST00000289153	T;T	0.63255	-0.03;-0.03	5.91	5.01	0.66863	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73845	0.3639	L	0.54863	1.705	0.80722	D	1	D;D	0.76494	0.967;0.999	P;D	0.73708	0.897;0.981	T	0.69228	-0.5200	10	0.30078	T	0.28	-17.9641	16.5318	0.84362	0.1311:0.8689:0.0:0.0	.	552;139	P42338;B4DZI3	PK3CB_HUMAN;.	K	552	ENSP00000418143:E552K;ENSP00000289153:E552K	ENSP00000289153:E552K	E	-	1	0	PIK3CB	139900555	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.758000	0.68776	2.805000	0.96524	0.460000	0.39030	GAA		0.373	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1			7	71	7	71	---	---	---	---
GSX2	170825	broad.mit.edu	37	4	54966544	54966544	+	Silent	SNP	C	C	A			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr4:54966544C>A	ENST00000326902.2	+	1	347	c.33C>A	c.(31-33)atC>atA	p.I11I	FIP1L1_ENST00000507166.1_Intron|GSX2_ENST00000503800.1_Silent_p.I11I	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	GS homeobox 2	11					forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain morphogenesis (GO:0048853)|hindbrain morphogenesis (GO:0021575)|neuron fate specification (GO:0048665)|olfactory bulb interneuron differentiation (GO:0021889)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of transcription, DNA-templated (GO:0006355)|spinal cord association neuron differentiation (GO:0021527)|subpallium neuron fate commitment (GO:0060163)|telencephalon regionalization (GO:0021978)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(2)|lung(2)	6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			ACTCGCTCATCATCAAGGACA	0.642																																						ENST00000326902.2																			0				endometrium(2)|large_intestine(2)|lung(2)	6						c.(31-33)atC>atA		GS homeobox 2							57.0	44.0	48.0					4																	54966544		2203	4299	6502	SO:0001819	synonymous_variant	170825					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr4:54966544C>A		CCDS3494.1	4q12	2012-03-09			ENSG00000180613	ENSG00000180613		"""Homeoboxes / ANTP class : HOXL subclass"""	24959	protein-coding gene	gene with protein product						11861295, 12205114	Standard	NM_133267		Approved	Gsh2	uc010igp.1	Q9BZM3	OTTHUMG00000128696	ENST00000326902.2:c.33C>A	4.37:g.54966544C>A			Somatic				GSX2_ENST00000503800.1_Silent_p.I11I|FIP1L1_ENST00000507166.1_Intron	p.I11I	NM_133267.2	NP_573574.1	WXS	Illumina GAIIx	Phase_I	Q9BZM3	GSX2_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00216)		1	347	+	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		11						Silent	SNP	ENST00000326902.2	37	c.33C>A	CCDS3494.1																																																																																				0.642	GSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250595.1	NM_133267		3	29	3	29	---	---	---	---
NPR3	4883	broad.mit.edu	37	5	32789763	32789763	+	3'UTR	SNP	C	C	T			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr5:32789763C>T	ENST00000265074.8	+	0	5281				AC026703.1_ENST00000326958.1_Missense_Mutation_p.H86Y	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3						adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	TTACTCAAGGCACATGTGCCT	0.408																																						ENST00000326958.1																			0											c.(256-258)Cac>Tac									141.0	120.0	127.0					5																	32789763		2203	4300	6503	SO:0001624	3_prime_UTR_variant	4883							g.chr5:32789763C>T		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.*3312C>T	5.37:g.32789763C>T			Somatic				NPR3_ENST00000265074.8_3'UTR	p.H86Y			WXS	Illumina GAIIx	Phase_I					1	819	+								A2RRD1|B4DT84|E7EPG9	Missense_Mutation	SNP	ENST00000265074.8	37	c.256C>T	CCDS56357.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.896437	0.33442	.	.	ENSG00000181495	ENST00000326958	.	.	.	4.68	0.628	0.17681	.	.	.	.	.	T	0.35740	0.0942	.	.	.	0.20764	N	0.999855	.	.	.	.	.	.	T	0.36768	-0.9734	5	0.87932	D	0	.	3.3698	0.07216	0.3585:0.4458:0.0:0.1957	.	.	.	.	Y	86	.	ENSP00000318340:H86Y	H	+	1	0	AC026703.1	32825520	0.003000	0.15002	0.008000	0.14137	0.956000	0.61745	-0.148000	0.10219	0.301000	0.22738	0.591000	0.81541	CAC		0.408	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		4	126	4	126	---	---	---	---
GPR110	266977	broad.mit.edu	37	6	46973590	46973590	+	Silent	SNP	C	C	T			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr6:46973590C>T	ENST00000371253.2	-	13	2771	c.2556G>A	c.(2554-2556)aaG>aaA	p.K852K	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Silent_p.K655K	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	852					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						AGGCAGACAACTTGTTGAACA	0.373																																						ENST00000371253.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						c.(2554-2556)aaG>aaA		G protein-coupled receptor 110							79.0	64.0	69.0					6																	46973590		2203	4300	6503	SO:0001819	synonymous_variant	266977				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46973590C>T	AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"""-"", ""GPCR / Class B : Orphans"""	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.2556G>A	6.37:g.46973590C>T			Somatic				GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Silent_p.K655K	p.K852K	NM_153840.2	NP_722582.2	WXS	Illumina GAIIx	Phase_I	Q5T601	GP110_HUMAN			13	2771	-			852					Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Silent	SNP	ENST00000371253.2	37	c.2556G>A	CCDS34471.1																																																																																				0.373	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	NM_153840		15	20	15	20	---	---	---	---
SMPD2	6610	broad.mit.edu	37	6	109762786	109762786	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr6:109762786G>A	ENST00000258052.3	+	3	538	c.179G>A	c.(178-180)aGa>aAa	p.R60K	PPIL6_ENST00000440797.2_5'Flank|PPIL6_ENST00000424445.2_5'Flank|PPIL6_ENST00000521072.2_5'Flank	NM_003080.2	NP_003071.2	O60906	NSMA_HUMAN	sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)	60					apoptotic signaling pathway (GO:0097190)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|neurotrophin TRK receptor signaling pathway (GO:0048011)|response to mechanical stimulus (GO:0009612)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin metabolic process (GO:0006684)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		CAGTACCTGAGACAGAAGCTG	0.607																																						ENST00000258052.3																			0				endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8						c.(178-180)aGa>aAa		sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)							173.0	155.0	161.0					6																	109762786		2203	4300	6503	SO:0001583	missense	6610				induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process	integral to plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity	g.chr6:109762786G>A	AJ222801	CCDS5075.1	6q21	2009-10-23			ENSG00000135587	ENSG00000135587	3.1.4.12		11121	protein-coding gene	gene with protein product		603498				9520418	Standard	XM_005267109		Approved	nSMase, ISC1	uc003pti.3	O60906	OTTHUMG00000015348	ENST00000258052.3:c.179G>A	6.37:g.109762786G>A	ENSP00000258052:p.Arg60Lys		Somatic					p.R60K	NM_003080.2	NP_003071.2	WXS	Illumina GAIIx	Phase_I	O60906	NSMA_HUMAN		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)	3	538	+		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)	60					Q5TED1|Q9BWR3	Missense_Mutation	SNP	ENST00000258052.3	37	c.179G>A	CCDS5075.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.695050	0.30052	.	.	ENSG00000135587	ENST00000258052	T	0.29397	1.57	4.87	1.94	0.25998	Endonuclease/exonuclease/phosphatase (2);	0.234553	0.49916	N	0.000127	T	0.03434	0.0099	N	0.04355	-0.22	0.31040	N	0.716408	B;B	0.06786	0.001;0.0	B;B	0.15484	0.013;0.003	T	0.44982	-0.9292	10	0.12430	T	0.62	-5.0742	6.9569	0.24576	0.2911:0.0:0.7089:0.0	.	60;60	B2R8U8;O60906	.;NSMA_HUMAN	K	60	ENSP00000258052:R60K	ENSP00000258052:R60K	R	+	2	0	SMPD2	109869479	0.886000	0.30341	0.945000	0.38365	0.993000	0.82548	1.217000	0.32455	0.280000	0.22209	0.655000	0.94253	AGA		0.607	SMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041755.1			35	42	35	42	---	---	---	---
KIF25	3834	broad.mit.edu	37	6	168440860	168440860	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr6:168440860G>A	ENST00000443060.2	+	7	1001	c.610G>A	c.(610-612)Gtg>Atg	p.V204M	KIF25_ENST00000354419.2_Missense_Mutation_p.V204M|KIF25_ENST00000351261.3_Missense_Mutation_p.V204M			Q9UIL4	KIF25_HUMAN	kinesin family member 25	204	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of autophagy (GO:0010507)|organelle organization (GO:0006996)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GATAATTACGGTGACTCTAAC	0.507																																						ENST00000443060.2																			0				NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(610-612)Gtg>Atg		kinesin family member 25							73.0	62.0	66.0					6																	168440860		2203	4300	6503	SO:0001583	missense	3834				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr6:168440860G>A	AB012722	CCDS5305.1, CCDS43530.1	6q27	2008-02-05	2003-01-09	2003-01-10	ENSG00000125337	ENSG00000125337		"""Kinesins"""	6390	protein-coding gene	gene with protein product		603815	"""kinesin-like 3"""	KNSL3		9925910	Standard	NM_030615		Approved		uc003qwk.1	Q9UIL4	OTTHUMG00000016035	ENST00000443060.2:c.610G>A	6.37:g.168440860G>A	ENSP00000388878:p.Val204Met		Somatic				KIF25_ENST00000351261.3_Missense_Mutation_p.V204M|KIF25_ENST00000354419.2_Missense_Mutation_p.V204M	p.V204M			WXS	Illumina GAIIx	Phase_I	Q9UIL4	KIF25_HUMAN		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)	7	1001	+		Breast(66;1.07e-05)|Ovarian(120;0.0728)	204			Kinesin-motor.		O94775|Q5SZU9	Missense_Mutation	SNP	ENST00000443060.2	37	c.610G>A	CCDS5305.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.922712	0.33908	.	.	ENSG00000125337	ENST00000443060;ENST00000354419;ENST00000351261	T;T;T	0.77098	-1.07;-1.07;-1.07	4.09	0.844	0.18943	Kinesin, motor domain (5);	1.000060	0.08071	N	0.999875	T	0.69441	0.3111	L	0.38531	1.155	0.09310	N	1	P;D	0.69078	0.858;0.997	P;D	0.66196	0.491;0.942	T	0.57510	-0.7799	10	0.87932	D	0	-24.803	5.748	0.18130	0.1153:0.3822:0.5026:0.0	.	204;204	Q9UIL4-2;Q9UIL4	.;KIF25_HUMAN	M	204	ENSP00000388878:V204M;ENSP00000346401:V204M;ENSP00000252688:V204M	ENSP00000252688:V204M	V	+	1	0	KIF25	168183709	0.019000	0.18553	0.001000	0.08648	0.015000	0.08874	0.049000	0.14099	0.673000	0.31224	0.411000	0.27672	GTG		0.507	KIF25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362509.1			11	18	11	18	---	---	---	---
CHST12	55501	broad.mit.edu	37	7	2473422	2473422	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr7:2473422A>G	ENST00000258711.6	+	2	1283	c.1148A>G	c.(1147-1149)aAg>aGg	p.K383R		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	383					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|chondroitin 4-sulfotransferase activity (GO:0047756)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		TGGTTCGCCAAGATCCCCCTG	0.627																																						ENST00000258711.6																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(1147-1149)aAg>aGg		carbohydrate (chondroitin 4) sulfotransferase 12							47.0	51.0	50.0					7																	2473422		2203	4300	6503	SO:0001583	missense	55501				dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding	g.chr7:2473422A>G	AF239822	CCDS5333.1	7p22	2007-03-14			ENSG00000136213	ENSG00000136213	2.8.2.5	"""Sulfotransferases, membrane-bound"""	17423	protein-coding gene	gene with protein product		610129				10781601	Standard	NM_018641		Approved	C4S-2, C4ST2	uc021zyu.1	Q9NRB3	OTTHUMG00000023849	ENST00000258711.6:c.1148A>G	7.37:g.2473422A>G	ENSP00000258711:p.Lys383Arg		Somatic					p.K383R	NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	WXS	Illumina GAIIx	Phase_I	Q9NRB3	CHSTC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)	2	1283	+		Ovarian(82;0.0253)	383					A4D1Z9|Q502W3|Q9NXY7	Missense_Mutation	SNP	ENST00000258711.6	37	c.1148A>G	CCDS5333.1	.	.	.	.	.	.	.	.	.	.	A	13.09	2.134670	0.37630	.	.	ENSG00000136213	ENST00000258711	T	0.72835	-0.69	5.15	0.369	0.16151	.	2.679520	0.01667	N	0.025437	T	0.60457	0.2270	L	0.34521	1.04	0.20307	N	0.999917	B	0.12013	0.005	B	0.14023	0.01	T	0.38200	-0.9672	10	0.33940	T	0.23	-24.3429	6.7016	0.23229	0.6196:0.2889:0.0915:0.0	.	383	Q9NRB3	CHSTC_HUMAN	R	383	ENSP00000258711:K383R	ENSP00000258711:K383R	K	+	2	0	CHST12	2439948	0.948000	0.32251	0.000000	0.03702	0.983000	0.72400	3.420000	0.52735	-0.045000	0.13468	0.459000	0.35465	AAG		0.627	CHST12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060170.3	NM_018641		28	27	28	27	---	---	---	---
TRBV6-1	28606	broad.mit.edu	37	7	142028602	142028602	+	RNA	SNP	C	C	G			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr7:142028602C>G	ENST00000390353.2	+	0	393									T cell receptor beta variable 6-1																		TCTGTGCCAGCAGTGAAGCCA	0.587																																						ENST00000390353.2																			0																				93.0	99.0	97.0					7																	142028602		2029	4192	6221			28606							g.chr7:142028602C>G	X61446		7q34	2012-02-07			ENSG00000211706	ENSG00000211706		"""T cell receptors / TRB locus"""	12226	other	T cell receptor gene	"""T-cell receptor beta chain V region C5 -like"""					8650574	Standard	NG_001333		Approved	TRBV61, TCRBV13S3, TCRBV6S1			OTTHUMG00000158531		7.37:g.142028602C>G			Somatic								WXS	Illumina GAIIx	Phase_I					0	393	+									RNA	SNP	ENST00000390353.2	37																																																																																						0.587	TRBV6-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351237.1	NG_001333		40	65	40	65	---	---	---	---
ARHGAP20	57569	broad.mit.edu	37	11	110479773	110479773	+	Splice_Site	SNP	C	C	T			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr11:110479773C>T	ENST00000260283.4	-	9	994	c.710G>A	c.(709-711)gGc>gAc	p.G237D	ARHGAP20_ENST00000528829.1_Splice_Site_p.G201D|ARHGAP20_ENST00000527598.1_Splice_Site_p.G201D|ARHGAP20_ENST00000357139.3_Splice_Site_p.G211D|ARHGAP20_ENST00000533353.1_Splice_Site_p.G211D|ARHGAP20_ENST00000524756.1_Splice_Site_p.G214D	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	237	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TCTCTCAGAGCCCTTAGAGAT	0.373																																						ENST00000260283.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60						c.(709-711)gGc>gAc		Rho GTPase activating protein 20							102.0	113.0	110.0					11																	110479773		2201	4298	6499	SO:0001630	splice_region_variant	57569				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:110479773C>T	AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"""Rho GTPase activating proteins"""	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.709-1G>A	11.37:g.110479773C>T			Somatic				ARHGAP20_ENST00000533353.1_Splice_Site_p.G211D|ARHGAP20_ENST00000528829.1_Splice_Site_p.G201D|ARHGAP20_ENST00000527598.1_Splice_Site_p.G201D|ARHGAP20_ENST00000524756.1_Splice_Site_p.G214D|ARHGAP20_ENST00000357139.3_Splice_Site_p.G211D	p.G237D	NM_020809.3	NP_065860.2	WXS	Illumina GAIIx	Phase_I	Q9P2F6	RHG20_HUMAN		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)	9	994	-		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	237			Ras-associating.		A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Splice_Site	SNP	ENST00000260283.4	37	c.710G>A	CCDS31673.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.961773	0.74016	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01;-0.01	5.76	5.76	0.90799	Ras-association (2);	0.044086	0.85682	D	0.000000	T	0.77336	0.4115	L	0.59436	1.845	0.48901	D	0.999724	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.72924	-0.4144	10	0.36615	T	0.2	.	19.9345	0.97131	0.0:1.0:0.0:0.0	.	237;214	Q9P2F6;Q9P2F6-3	RHG20_HUMAN;.	D	237;211;214;201;211;201	ENSP00000260283:G237D;ENSP00000349660:G211D;ENSP00000432076:G214D;ENSP00000436319:G201D;ENSP00000436522:G211D;ENSP00000431399:G201D	ENSP00000260283:G237D	G	-	2	0	ARHGAP20	109984983	1.000000	0.71417	0.999000	0.59377	0.597000	0.36814	4.939000	0.63526	2.882000	0.98803	0.655000	0.94253	GGC		0.373	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809	Missense_Mutation	51	65	51	65	---	---	---	---
POTEG	404785	broad.mit.edu	37	14	19553754	19553754	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr14:19553754G>A	ENST00000409832.3	+	1	390	c.338G>A	c.(337-339)gGc>gAc	p.G113D		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	113										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AGGGGGAGCGGCAAGAGCAAA	0.597																																						ENST00000409832.3																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(337-339)gGc>gAc		POTE ankyrin domain family, member G							348.0	379.0	369.0					14																	19553754		2201	4298	6499	SO:0001583	missense	404785							g.chr14:19553754G>A		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.338G>A	14.37:g.19553754G>A	ENSP00000386971:p.Gly113Asp		Somatic					p.G113D	NM_001005356.2	NP_001005356.1	WXS	Illumina GAIIx	Phase_I	Q6S5H5	POTEG_HUMAN			1	390	+			113					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	c.338G>A	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	g	6.591	0.477486	0.12521	.	.	ENSG00000222036	ENST00000409832	T	0.28895	1.59	0.604	0.604	0.17547	.	.	.	.	.	T	0.30727	0.0774	L	0.58101	1.795	0.09310	N	1	P	0.43938	0.822	B	0.43575	0.424	T	0.16867	-1.0388	8	0.59425	D	0.04	.	.	.	.	.	113	Q6S5H5	POTEG_HUMAN	D	113	ENSP00000386971:G113D	ENSP00000386971:G113D	G	+	2	0	POTEG	18623754	0.001000	0.12720	0.002000	0.10522	0.007000	0.05969	0.607000	0.24209	0.571000	0.29365	0.416000	0.27883	GGC		0.597	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		5	609	5	609	---	---	---	---
OR4L1	122742	broad.mit.edu	37	14	20528658	20528658	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr14:20528658G>T	ENST00000315683.1	+	1	455	c.455G>T	c.(454-456)gGt>gTt	p.G152V		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	152						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G152V(1)		central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TGGATAATTGGTTTTTTACAC	0.403																																						ENST00000315683.1																			1	Substitution - Missense(1)	p.G152V(1)	large_intestine(1)	central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(454-456)gGt>gTt		olfactory receptor, family 4, subfamily L, member 1							143.0	134.0	137.0					14																	20528658		2203	4300	6503	SO:0001583	missense	122742				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20528658G>T		CCDS32029.1	14q11.2	2013-09-23			ENSG00000176246	ENSG00000176246		"""GPCR / Class A : Olfactory receptors"""	15356	protein-coding gene	gene with protein product				OR4L2P			Standard	NM_001004717		Approved		uc001vwn.1	Q8NH43	OTTHUMG00000169492	ENST00000315683.1:c.455G>T	14.37:g.20528658G>T	ENSP00000319217:p.Gly152Val		Somatic					p.G152V	NM_001004717.1	NP_001004717.1	WXS	Illumina GAIIx	Phase_I	Q8NH43	OR4L1_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	1	455	+	all_cancers(95;0.00108)		152					Q6IEZ5	Missense_Mutation	SNP	ENST00000315683.1	37	c.455G>T	CCDS32029.1	.	.	.	.	.	.	.	.	.	.	.	10.46	1.355282	0.24512	.	.	ENSG00000176246	ENST00000315683	T	0.39056	1.1	4.37	4.37	0.52481	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000025	T	0.73024	0.3534	H	0.94847	3.59	0.21256	N	0.999749	D	0.89917	1.0	D	0.91635	0.999	T	0.69895	-0.5021	10	0.87932	D	0	.	14.8025	0.69926	0.0:0.0:1.0:0.0	.	152	Q8NH43	OR4L1_HUMAN	V	152	ENSP00000319217:G152V	ENSP00000319217:G152V	G	+	2	0	OR4L1	19598498	0.996000	0.38824	0.615000	0.29064	0.091000	0.18340	4.483000	0.60264	2.423000	0.82170	0.650000	0.86243	GGT		0.403	OR4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404381.1			48	34	48	34	---	---	---	---
CSNK1G1	53944	broad.mit.edu	37	15	64464144	64464144	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr15:64464144G>A	ENST00000303052.7	-	12	1678	c.1255C>T	c.(1255-1257)Cag>Tag	p.Q419*	CSNK1G1_ENST00000607537.1_Intron	NM_022048.3	NP_071331.2	Q9HCP0	KC1G1_HUMAN	casein kinase 1, gamma 1	419					Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						TTGTGGCGCTGAGCAGTCTTC	0.547																																						ENST00000303052.7																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						c.(1255-1257)Cag>Tag		casein kinase 1, gamma 1							110.0	117.0	115.0					15																	64464144		2054	4207	6261	SO:0001587	stop_gained	53944				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr15:64464144G>A	AB042562	CCDS10192.2	15q22.1-q22.31	2013-01-17			ENSG00000169118	ENSG00000169118			2454	protein-coding gene	gene with protein product		606274				11124537	Standard	NM_022048		Approved	CK1gamma1	uc002anf.3	Q9HCP0	OTTHUMG00000133019	ENST00000303052.7:c.1255C>T	15.37:g.64464144G>A	ENSP00000305777:p.Gln419*		Somatic				CSNK1G1_ENST00000607537.1_Intron	p.Q419*	NM_022048.3	NP_071331.2	WXS	Illumina GAIIx	Phase_I	Q9HCP0	KC1G1_HUMAN			12	1678	-			419					Q5JPH1|Q96AE9|Q9HCP1	Nonsense_Mutation	SNP	ENST00000303052.7	37	c.1255C>T	CCDS10192.2	.	.	.	.	.	.	.	.	.	.	G	38	7.081683	0.98051	.	.	ENSG00000169118	ENST00000303052;ENST00000447727	.	.	.	5.66	5.66	0.87406	.	0.422190	0.27730	N	0.018086	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	19.7417	0.96234	0.0:0.0:1.0:0.0	.	.	.	.	X	419;375	.	ENSP00000305777:Q419X	Q	-	1	0	CSNK1G1	62251197	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.278000	0.72614	2.661000	0.90470	0.655000	0.94253	CAG		0.547	CSNK1G1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256605.1	NM_022048		38	68	38	68	---	---	---	---
RBL2	5934	broad.mit.edu	37	16	53487463	53487463	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr16:53487463A>G	ENST00000262133.6	+	6	1003	c.866A>G	c.(865-867)gAa>gGa	p.E289G	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Missense_Mutation_p.E73G	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	289					chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CTAGTTTTGGAAGCAAAGGGG	0.358																																						ENST00000262133.6																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(865-867)gAa>gGa		retinoblastoma-like 2 (p130)							112.0	114.0	114.0					16																	53487463		2198	4300	6498	SO:0001583	missense	5934				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr16:53487463A>G	X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.866A>G	16.37:g.53487463A>G	ENSP00000262133:p.Glu289Gly		Somatic				RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Missense_Mutation_p.E73G	p.E289G	NM_005611.3	NP_005602.3	WXS	Illumina GAIIx	Phase_I	Q08999	RBL2_HUMAN			6	1003	+			289					B7Z913|Q15073|Q16084|Q8NE70|Q92812	Missense_Mutation	SNP	ENST00000262133.6	37	c.866A>G	CCDS10748.1	.	.	.	.	.	.	.	.	.	.	A	17.68	3.449887	0.63290	.	.	ENSG00000103479	ENST00000262133;ENST00000544405;ENST00000544545	D;D;D	0.91945	-2.94;-2.71;-2.27	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	D	0.96172	0.8752	M	0.85462	2.755	0.58432	D	0.999998	D;D;D	0.89917	0.998;1.0;0.999	D;D;D	0.97110	0.991;1.0;0.994	D	0.96843	0.9619	10	0.87932	D	0	-16.3863	14.5267	0.67894	1.0:0.0:0.0:0.0	.	73;289;289	B7Z913;Q8NE70;Q08999	.;.;RBL2_HUMAN	G	289;215;73	ENSP00000262133:E289G;ENSP00000443744:E215G;ENSP00000444685:E73G	ENSP00000262133:E289G	E	+	2	0	RBL2	52044964	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.713000	0.91408	1.815000	0.52974	0.402000	0.26972	GAA		0.358	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611		19	76	19	76	---	---	---	---
PRSS54	221191	broad.mit.edu	37	16	58314536	58314536	+	Silent	SNP	G	G	A	rs367759301		TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr16:58314536G>A	ENST00000219301.4	-	7	1174	c.780C>T	c.(778-780)taC>taT	p.Y260Y	CCDC113_ENST00000443128.2_3'UTR|PRSS54_ENST00000543437.1_Silent_p.Y161Y|PRSS54_ENST00000567164.1_Silent_p.Y260Y|CCDC113_ENST00000219299.4_3'UTR	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	260	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TCCATTTGCTGTAGTCTTCCA	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		18386	0.001		0.0	False		,,,				2504	0.0					ENST00000219301.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(778-780)taC>taT		protease, serine, 54		G	,,	0,4396		0,0,2198	67.0	67.0	67.0		780,,	2.8	1.0	16		67	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,utr-3,utr-3	CCDC113,PRSS54	NM_001080492.1,NM_001142302.1,NM_014157.3	,,	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	,,	260/396,,	58314536	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	221191				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:58314536G>A	AK058068	CCDS32463.1	16q21	2010-05-07			ENSG00000103023	ENSG00000103023		"""Serine peptidases / Serine peptidases"""	26336	protein-coding gene	gene with protein product	"""cancer/testis antigen 67"""					17521433	Standard	NM_001080492		Approved	FLJ25339, KLKBL4, CT67	uc002enf.3	Q6PEW0		ENST00000219301.4:c.780C>T	16.37:g.58314536G>A			Somatic				PRSS54_ENST00000567164.1_Silent_p.Y260Y|PRSS54_ENST00000543437.1_Silent_p.Y161Y|CCDC113_ENST00000443128.2_3'UTR|CCDC113_ENST00000219299.4_3'UTR	p.Y260Y	NM_001080492.1	NP_001073961.1	WXS	Illumina GAIIx	Phase_I	Q6PEW0	PRS54_HUMAN			7	1174	-			260			Peptidase S1.		Q96LN9|Q9NT77	Silent	SNP	ENST00000219301.4	37	c.780C>T	CCDS32463.1																																																																																				0.547	PRSS54-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422556.1	NM_001080492		15	11	15	11	---	---	---	---
ADPRM	56985	broad.mit.edu	37	17	10614356	10614356	+	Silent	SNP	C	C	G			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr17:10614356C>G	ENST00000379774.4	+	4	1015	c.924C>G	c.(922-924)gcC>gcG	p.A308A	ADPRM_ENST00000609540.1_3'UTR	NM_020233.4	NP_064618.3	Q3LIE5	ADPRM_HUMAN	ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent	308							ADP-ribose diphosphatase activity (GO:0047631)|CDP-glycerol diphosphatase activity (GO:0047734)|metal ion binding (GO:0046872)										ACAGCCAAGCCTTTGGCACAG	0.438																																						ENST00000379774.4																			0											c.(922-924)gcC>gcG		ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent							129.0	120.0	123.0					17																	10614356		2203	4300	6503	SO:0001819	synonymous_variant	56985							g.chr17:10614356C>G	BC070155	CCDS11159.2	17p13.1	2012-07-20	2012-07-20	2012-07-20	ENSG00000170222	ENSG00000170222	3.6.1.13, 3.6.1.16, 3.6.1.53		30925	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 48"""	C17orf48		18352857	Standard	XM_005256738		Approved	MDS006	uc002gmt.3	Q3LIE5	OTTHUMG00000130366	ENST00000379774.4:c.924C>G	17.37:g.10614356C>G			Somatic				ADPRM_ENST00000609540.1_3'UTR	p.A308A	NM_020233.4	NP_064618.3	WXS	Illumina GAIIx	Phase_I					4	1015	+								A8K9B4|D3DTS4|Q9BVD4|Q9NRU8	Silent	SNP	ENST00000379774.4	37	c.924C>G	CCDS11159.2																																																																																				0.438	ADPRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252732.2	NM_020233		25	20	25	20	---	---	---	---
KRT28	162605	broad.mit.edu	37	17	38956166	38956166	+	De_novo_Start_InFrame	SNP	C	C	T			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr17:38956166C>T	ENST00000306658.7	-	0	45					NM_181535.3	NP_853513.2			keratin 28											NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				GAAATGTTCACCTTGTCTATG	0.398																																					Melanoma(19;789 869 15380 26882 39836)	ENST00000306658.7																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30								keratin 28							46.0	49.0	48.0					17																	38956166		2203	4300	6503			162605					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38956166C>T	AK129827	CCDS11376.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000173908	ENSG00000173908		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30842	protein-coding gene	gene with protein product			"""keratin 25D"""	KRT25D		16831889	Standard	NM_181535		Approved		uc002hvh.1	Q7Z3Y7	OTTHUMG00000133365		17.37:g.38956166C>T			Somatic						NM_181535.3	NP_853513.2	WXS	Illumina GAIIx	Phase_I	Q7Z3Y7	K1C28_HUMAN			0	45	-		Breast(137;0.000301)							Translation_Start_Site	SNP	ENST00000306658.7	37		CCDS11376.1																																																																																				0.398	KRT28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257201.2	NM_181535		12	15	12	15	---	---	---	---
SLC16A6	9120	broad.mit.edu	37	17	66274395	66274395	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr17:66274395A>G	ENST00000327268.4	-	3	231	c.67T>C	c.(67-69)Tgg>Cgg	p.W23R	ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Missense_Mutation_p.W23R	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	23					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	GCCCAGCCCCATCCTCCATCA	0.378																																						ENST00000327268.4																			0				large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15						c.(67-69)Tgg>Cgg		solute carrier family 16, member 6	Pyruvic acid(DB00119)						91.0	90.0	90.0					17																	66274395		2203	4300	6503	SO:0001583	missense	9120					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chr17:66274395A>G	U79745	CCDS11675.1	17q24.2	2013-07-18	2013-07-18		ENSG00000108932	ENSG00000108932		"""Solute carriers"""	10927	protein-coding gene	gene with protein product		603880	"""solute carrier family 16 (monocarboxylic acid transporters), member 6"", ""solute carrier family 16, member 6 (monocarboxylic acid transporter 7)"""			9425115	Standard	NM_004694		Approved	MCT6, MCT7	uc002jgz.2	O15403	OTTHUMG00000179812	ENST00000327268.4:c.67T>C	17.37:g.66274395A>G	ENSP00000319991:p.Trp23Arg		Somatic				ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Missense_Mutation_p.W23R	p.W23R	NM_001174166.1	NP_001167637.1	WXS	Illumina GAIIx	Phase_I	O15403	MOT7_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		3	231	-	all_cancers(12;1.24e-09)		23					Q6P1X3	Missense_Mutation	SNP	ENST00000327268.4	37	c.67T>C	CCDS11675.1	.	.	.	.	.	.	.	.	.	.	A	11.66	1.704204	0.30232	.	.	ENSG00000108932	ENST00000327268	T	0.56444	0.46	5.18	5.18	0.71444	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.73241	0.3562	M	0.80332	2.49	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.77864	-0.2429	10	0.87932	D	0	.	14.4929	0.67665	1.0:0.0:0.0:0.0	.	23	O15403	MOT7_HUMAN	R	23	ENSP00000319991:W23R	ENSP00000319991:W23R	W	-	1	0	SLC16A6	63785990	1.000000	0.71417	1.000000	0.80357	0.695000	0.40330	8.641000	0.91032	2.081000	0.62600	0.533000	0.62120	TGG		0.378	SLC16A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448323.1	NM_004694		29	38	29	38	---	---	---	---
GPR32	2854	broad.mit.edu	37	19	51274218	51274218	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr19:51274218G>T	ENST00000270590.4	+	1	498	c.361G>T	c.(361-363)Gtg>Ttg	p.V121L		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	121					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CATCACCTTTGTGTTCCTCAG	0.537																																					Esophageal Squamous(113;152 1581 5732 15840 44398)	ENST00000270590.4																			0				breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(361-363)Gtg>Ttg		G protein-coupled receptor 32							190.0	179.0	183.0					19																	51274218		2203	4300	6503	SO:0001583	missense	2854					integral to plasma membrane	N-formyl peptide receptor activity	g.chr19:51274218G>T	AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"""GPCR / Class A : Resolvin receptors"""	4487	protein-coding gene	gene with protein product	"""resolvin D1 receptor"""	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.361G>T	19.37:g.51274218G>T	ENSP00000270590:p.Val121Leu		Somatic					p.V121L	NM_001506.1	NP_001497.1	WXS	Illumina GAIIx	Phase_I	O75388	GPR32_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	1	498	+		all_neural(266;0.131)	121					Q502U7|Q6NWS5	Missense_Mutation	SNP	ENST00000270590.4	37	c.361G>T	CCDS12801.1	.	.	.	.	.	.	.	.	.	.	G	3.073	-0.190597	0.06299	.	.	ENSG00000142511	ENST00000270590	T	0.36520	1.25	2.73	-2.18	0.07037	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.19127	0.0459	N	0.13327	0.33	0.09310	N	1	B	0.29766	0.256	B	0.37943	0.261	T	0.33163	-0.9879	9	0.30854	T	0.27	.	1.4546	0.02382	0.1789:0.2608:0.3925:0.1678	.	121	O75388	GPR32_HUMAN	L	121	ENSP00000270590:V121L	ENSP00000270590:V121L	V	+	1	0	GPR32	55966030	0.000000	0.05858	0.163000	0.22734	0.313000	0.28021	-0.126000	0.10563	-0.064000	0.13043	0.313000	0.20887	GTG		0.537	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465016.1			36	27	36	27	---	---	---	---
LILRB1	10859	broad.mit.edu	37	19	55143638	55143638	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr19:55143638C>T	ENST00000396331.1	+	6	968	c.611C>T	c.(610-612)tCt>tTt	p.S204F	LILRB1_ENST00000396327.3_Missense_Mutation_p.S204F|LILRB1_ENST00000396317.1_Missense_Mutation_p.S204F|LILRB1_ENST00000396321.2_Missense_Mutation_p.S204F|LILRB1_ENST00000396315.1_Missense_Mutation_p.S204F|LILRB1_ENST00000396332.4_Missense_Mutation_p.S204F|LILRB1_ENST00000324602.7_Missense_Mutation_p.S204F|LILRB1_ENST00000448689.1_Missense_Mutation_p.S204F|AC009892.1_ENST00000578908.1_RNA|LILRB1_ENST00000418536.2_Missense_Mutation_p.S204F|LILRB1_ENST00000434867.2_Missense_Mutation_p.S204F|LILRB1_ENST00000427581.2_Missense_Mutation_p.S240F	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	204	Ig-like C2-type 2.				cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GACTCGAACTCTCCCTATGAG	0.602										HNSCC(37;0.09)																												ENST00000396331.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(610-612)tCt>tTt		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1							159.0	156.0	157.0					19																	55143638		2203	4300	6503	SO:0001583	missense	10859				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55143638C>T	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.611C>T	19.37:g.55143638C>T	ENSP00000379622:p.Ser204Phe	HNSCC(37;0.09)	Somatic				LILRB1_ENST00000396327.3_Missense_Mutation_p.S204F|LILRB1_ENST00000324602.7_Missense_Mutation_p.S204F|LILRB1_ENST00000434867.2_Missense_Mutation_p.S204F|LILRB1_ENST00000448689.1_Missense_Mutation_p.S204F|LILRB1_ENST00000396315.1_Missense_Mutation_p.S204F|LILRB1_ENST00000396317.1_Missense_Mutation_p.S204F|LILRB1_ENST00000396321.2_Missense_Mutation_p.S204F|LILRB1_ENST00000396332.4_Missense_Mutation_p.S204F|LILRB1_ENST00000418536.2_Missense_Mutation_p.S204F|LILRB1_ENST00000427581.2_Missense_Mutation_p.S240F	p.S204F	NM_006669.3	NP_006660.3	WXS	Illumina GAIIx	Phase_I	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	6	968	+			204			Ig-like C2-type 2.		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	c.611C>T	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	C	0.399	-0.919507	0.02396	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86;1.86;1.86;1.86;1.86;1.86;1.86	1.57	-3.14	0.05250	Immunoglobulin-like fold (1);	3.116130	0.00941	N	0.002821	T	0.28167	0.0695	M	0.63428	1.95	0.09310	N	1	B;B;B;B;B	0.18741	0.03;0.002;0.005;0.008;0.002	B;B;B;B;B	0.28465	0.09;0.01;0.007;0.025;0.003	T	0.30707	-0.9969	10	0.62326	D	0.03	.	4.3027	0.10932	0.3303:0.4937:0.1759:0.0	.	204;204;204;204;204	A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;LIRB1_HUMAN	F	204;204;204;204;204;204;204;204;240;204;204	ENSP00000379614:S204F;ENSP00000391514:S204F;ENSP00000409968:S204F;ENSP00000379622:S204F;ENSP00000379618:S204F;ENSP00000315997:S204F;ENSP00000405243:S204F;ENSP00000379623:S204F;ENSP00000395004:S240F;ENSP00000379610:S204F;ENSP00000379608:S204F	ENSP00000315997:S204F	S	+	2	0	LILRB1	59835450	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.281000	0.00528	-1.184000	0.02720	-1.296000	0.01341	TCT		0.602	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			14	60	14	60	---	---	---	---
NRIP1	8204	broad.mit.edu	37	21	16339649	16339649	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr21:16339649T>C	ENST00000400202.1	-	3	1577	c.865A>G	c.(865-867)Aat>Gat	p.N289D	NRIP1_ENST00000400199.1_Missense_Mutation_p.N289D|NRIP1_ENST00000318948.4_Missense_Mutation_p.N289D			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	289	Interaction with ZNF366.|Repression domain 1.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TGATTTGCATTTTGCGTTTTT	0.448																																						ENST00000400202.1																			0				cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39						c.(865-867)Aat>Gat		nuclear receptor interacting protein 1							108.0	101.0	103.0					21																	16339649		2203	4300	6503	SO:0001583	missense	8204				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity	g.chr21:16339649T>C	X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"""receptor interacting protein 140"", ""nuclear factor RIP140"""	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.865A>G	21.37:g.16339649T>C	ENSP00000383063:p.Asn289Asp		Somatic				NRIP1_ENST00000400199.1_Missense_Mutation_p.N289D|NRIP1_ENST00000318948.4_Missense_Mutation_p.N289D	p.N289D			WXS	Illumina GAIIx	Phase_I	P48552	NRIP1_HUMAN		Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)	3	1577	-			289			Repression domain 1.		Q8IWE8	Missense_Mutation	SNP	ENST00000400202.1	37	c.865A>G	CCDS13568.1	.	.	.	.	.	.	.	.	.	.	T	12.98	2.099552	0.37048	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	T;T;T	0.08896	3.04;3.04;3.04	5.99	5.99	0.97316	.	0.331890	0.31976	N	0.006778	T	0.12050	0.0293	L	0.50333	1.59	0.32659	N	0.518337	P	0.39480	0.675	B	0.39258	0.295	T	0.04053	-1.0981	10	0.49607	T	0.09	-16.1196	16.4886	0.84191	0.0:0.0:0.0:1.0	.	289	P48552	NRIP1_HUMAN	D	289	ENSP00000383060:N289D;ENSP00000383063:N289D;ENSP00000327213:N289D	ENSP00000327213:N289D	N	-	1	0	NRIP1	15261520	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.209000	0.58493	2.294000	0.77228	0.528000	0.53228	AAT		0.448	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489		32	54	32	54	---	---	---	---
PRDM15	63977	broad.mit.edu	37	21	43230589	43230589	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr21:43230589G>A	ENST00000269844.3	-	28	3781	c.3671C>T	c.(3670-3672)gCg>gTg	p.A1224V	PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000398548.1_Missense_Mutation_p.A895V|PRDM15_ENST00000447207.2_Missense_Mutation_p.A858V|PRDM15_ENST00000538201.1_Missense_Mutation_p.A878V|PRDM15_ENST00000422911.1_Missense_Mutation_p.A915V	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	1224					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						GCAGCTCTGCGCCTCCACCTT	0.627																																						ENST00000422911.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						c.(2743-2745)gCg>gTg		PR domain containing 15							102.0	65.0	77.0					21																	43230589		2203	4300	6503	SO:0001583	missense	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43230589G>A	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.3671C>T	21.37:g.43230589G>A	ENSP00000269844:p.Ala1224Val		Somatic				PRDM15_ENST00000269844.3_Missense_Mutation_p.A1224V|PRDM15_ENST00000447207.2_Missense_Mutation_p.A858V|PRDM15_ENST00000538201.1_Missense_Mutation_p.A878V|PRDM15_ENST00000398548.1_Missense_Mutation_p.A895V|PRDM15_ENST00000470586.1_5'UTR	p.A915V	NM_001282934.1	NP_001269863.1	WXS	Illumina GAIIx	Phase_I	P57071	PRD15_HUMAN			22	2845	-			1224					E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	ENST00000269844.3	37	c.2744C>T	CCDS13676.1	.	.	.	.	.	.	.	.	.	.	g	28.2	4.901726	0.92035	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844	T;T;T;T;T	0.08807	4.75;4.75;4.75;4.75;3.05	4.11	4.11	0.48088	Zinc finger, C2H2 (1);	.	.	.	.	T	0.18676	0.0448	L	0.31476	0.935	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.991;0.986;0.996	T	0.02885	-1.1098	9	0.87932	D	0	-18.5854	15.3339	0.74234	0.0:0.0:1.0:0.0	.	1224;915;895	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	V	915;895;878;858;1224	ENSP00000408592:A915V;ENSP00000381556:A895V;ENSP00000444044:A878V;ENSP00000390245:A858V;ENSP00000269844:A1224V	ENSP00000269844:A1224V	A	-	2	0	PRDM15	42103658	1.000000	0.71417	0.976000	0.42696	0.954000	0.61252	9.491000	0.97954	1.836000	0.53414	0.306000	0.20318	GCG		0.627	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		4	29	4	29	---	---	---	---
PI4KA	5297	broad.mit.edu	37	22	21097023	21097023	+	Silent	SNP	G	G	T			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr22:21097023G>T	ENST00000572273.1	-	31	3542	c.3312C>A	c.(3310-3312)acC>acA	p.T1104T	PI4KA_ENST00000255882.6_Silent_p.T1162T			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1104					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TCTGGCCTGTGGTGCCTGAGA	0.478																																					GBM(136;1332 1831 3115 23601 50806)	ENST00000255882.6																			0				breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79						c.(3484-3486)acC>acA		phosphatidylinositol 4-kinase, catalytic, alpha							243.0	188.0	207.0					22																	21097023		2203	4300	6503	SO:0001819	synonymous_variant	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21097023G>T	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.3312C>A	22.37:g.21097023G>T			Somatic				PI4KA_ENST00000572273.1_Silent_p.T1104T	p.T1162T	NM_058004.3	NP_477352.3	WXS	Illumina GAIIx	Phase_I	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		31	3572	-	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	1104					Q7Z625|Q9UPG2	Silent	SNP	ENST00000572273.1	37	c.3486C>A																																																																																					0.478	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		15	76	15	76	---	---	---	---
USP9X	8239	broad.mit.edu	37	X	41082490	41082490	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chrX:41082490C>T	ENST00000324545.8	+	39	7219	c.6586C>T	c.(6586-6588)Ctt>Ttt	p.L2196F	USP9X_ENST00000378308.2_Missense_Mutation_p.L2196F	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	2196					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GAAGACACAGCTTCTGAAATT	0.398																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.8																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(6586-6588)Ctt>Ttt		ubiquitin specific peptidase 9, X-linked							130.0	118.0	122.0					X																	41082490		2196	4300	6496	SO:0001583	missense	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41082490C>T	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.6586C>T	X.37:g.41082490C>T	ENSP00000316357:p.Leu2196Phe		Somatic				USP9X_ENST00000378308.2_Missense_Mutation_p.L2196F	p.L2196F	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	WXS	Illumina GAIIx	Phase_I	Q93008	USP9X_HUMAN			39	7219	+								O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.6586C>T	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.931674	0.92389	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.32988	1.43;1.43	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.60483	0.2272	M	0.80746	2.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.65191	-0.6228	10	0.66056	D	0.02	.	18.483	0.90819	0.0:1.0:0.0:0.0	.	2196;2196	Q93008-1;Q93008	.;USP9X_HUMAN	F	2196	ENSP00000367558:L2196F;ENSP00000316357:L2196F	ENSP00000316357:L2196F	L	+	1	0	USP9X	40967434	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.629000	0.61290	2.307000	0.77673	0.594000	0.82650	CTT		0.398	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		34	5	34	5	---	---	---	---
CASR	846	broad.mit.edu	37	3	122002787	122002792	+	In_Frame_Del	DEL	CTCCAG	CTCCAG	-			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr3:122002787_122002792delCTCCAG	ENST00000490131.1	+	7	2358_2363	c.1986_1991delCTCCAG	c.(1984-1992)ttctccagc>ttc	p.SS663del	CASR_ENST00000296154.5_In_Frame_Del_p.SS663del|AC068754.1_ENST00000408547.1_RNA|CASR_ENST00000498619.1_In_Frame_Del_p.SS673del	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	663					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TCTGCTGCTTCTCCAGCTCCCTGTTC	0.592																																						ENST00000498619.1																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(2014-2022)ttctccagc>ttc		calcium-sensing receptor	Cinacalcet(DB01012)																																			SO:0001651	inframe_deletion	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:122002787_122002792delCTCCAG	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.1986_1991delCTCCAG	3.37:g.122002787_122002792delCTCCAG	ENSP00000418685:p.Ser663_Ser664del		Somatic				CASR_ENST00000296154.5_In_Frame_Del_p.SS663del|CASR_ENST00000490131.1_In_Frame_Del_p.SS663del	p.SS673del	NM_001178065.1	NP_001171536	WXS	Illumina GAIIx	Phase_I	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	7	2454_2459	+			663					Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	In_Frame_Del	DEL	ENST00000490131.1	37	c.2016_2021delCTCCAG	CCDS3010.1																																																																																				0.592	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		19	58	19	58	---	---	---	---
IFNA16	3449	broad.mit.edu	37	9	21217216	21217216	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr9:21217216delT	ENST00000380216.1	-	1	94	c.89delA	c.(88-90)cacfs	p.H30fs		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	30					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		ACCCAGGCTGTGAGTCTGAGG	0.507																																						ENST00000380216.1																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13						c.(88-90)cacfs		interferon, alpha 16							95.0	95.0	95.0					9																	21217216		2203	4300	6503	SO:0001589	frameshift_variant	3449				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:21217216delT		CCDS34996.1	9p22	2010-12-10			ENSG00000147885	ENSG00000147885		"""Interferons"""	5421	protein-coding gene	gene with protein product		147580				1385305	Standard	NM_002173		Approved	IFN-alphaO	uc003zor.1	P05015	OTTHUMG00000019663	ENST00000380216.1:c.89delA	9.37:g.21217216delT	ENSP00000369564:p.His30fs		Somatic					p.H30fs	NM_002173.2	NP_002164.1	WXS	Illumina GAIIx	Phase_I	P05015	IFN16_HUMAN		Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)	1	94	-			30					Q5VV12	Frame_Shift_Del	DEL	ENST00000380216.1	37	c.89delA	CCDS34996.1																																																																																				0.507	IFNA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051892.1	NM_002173		42	100	42	100	---	---	---	---
IDE	3416	broad.mit.edu	37	10	94269859	94269859	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr10:94269859delT	ENST00000265986.6	-	6	901	c.845delA	c.(844-846)aatfs	p.N282fs		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	282					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""""""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"""	CAATGGAACATTTTTGTTCTC	0.318																																						ENST00000265986.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33						c.(844-846)aatfs		insulin-degrading enzyme	Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						137.0	143.0	141.0					10																	94269859		2203	4299	6502	SO:0001589	frameshift_variant	3416				beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding	g.chr10:94269859delT	M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"""insulysin"""	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.845delA	10.37:g.94269859delT	ENSP00000265986:p.Asn282fs		Somatic					p.N282fs	NM_004969.3	NP_004960.2	WXS	Illumina GAIIx	Phase_I	P14735	IDE_HUMAN			6	901	-			282					B2R721|B7ZAU2|D3DR35|Q5T5N2	Frame_Shift_Del	DEL	ENST00000265986.6	37	c.845delA	CCDS7421.1																																																																																				0.318	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049393.1	NM_004969		13	62	13	62	---	---	---	---
LOC101928517	101928517	broad.mit.edu	37	19	51671586	51671587	+	RNA	DEL	GT	GT	-			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr19:51671586_51671587delGT	ENST00000600074.1	-	0	493				SIGLEC17P_ENST00000598286.1_RNA																							CCCGGAGCTGGTGTGACCACGG	0.629																																						ENST00000600074.1																			0																																																			101928517							g.chr19:51671586_51671587delGT																													19.37:g.51671588_51671589delGT			Somatic				SIGLEC17P_ENST00000598286.1_RNA				WXS	Illumina GAIIx	Phase_I					0	493	-									RNA	DEL	ENST00000600074.1	37																																																																																						0.629	CTD-3187F8.14-001	KNOWN	basic	antisense	antisense	OTTHUMT00000465635.1			7	19	7	19	---	---	---	---
