#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_filter	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
PADI1	29943	broad.mit.edu	37	1	17552360	17552360	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr1:17552360G>A	ENST00000375471.4	+	5	555	c.463G>A	c.(463-465)Gac>Aac	p.D155N		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	155					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)	p.D155N(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	GGTGAACTGTGACCGGGACAA	0.592																																					Esophageal Squamous(80;414 1257 4580 27746 50832)	uc001bah.1																			1	Substitution - Missense(1)		lung(1)		0						c.(463-465)GAC>AAC		peptidylarginine deiminase type I	L-Citrulline(DB00155)						115.0	118.0	117.0					1																	17552360		2203	4300	6503	SO:0001583	missense	29943				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17552360G>A	AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"""Peptidyl arginine deiminases"""	18367	protein-coding gene	gene with protein product	"""peptidylarginine deiminase type I"", ""protein-arginine deiminase type-1"", ""hPAD-colony 10"""	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.463G>A	1.37:g.17552360G>A	ENSP00000364620:p.Asp155Asn						p.D155N	NM_013358	NP_037490	Q9ULC6	PADI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	5	555	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	155					A1L4K6|Q70SX6	Missense_Mutation	SNP	ENST00000375471.4	37	c.463G>A	CCDS178.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.858179	0.91433	.	.	ENSG00000142623	ENST00000375471	T	0.18502	2.21	4.91	4.91	0.64330	Protein-arginine deiminase (PAD), central domain (2);	0.000000	0.85682	D	0.000000	T	0.47377	0.1442	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.50608	-0.8808	10	0.34782	T	0.22	-35.6867	16.6708	0.85266	0.0:0.0:1.0:0.0	.	155	Q9ULC6	PADI1_HUMAN	N	155	ENSP00000364620:D155N	ENSP00000364620:D155N	D	+	1	0	PADI1	17424947	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	8.256000	0.89848	2.274000	0.75844	0.305000	0.20034	GAC		PASS	0.592	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006621.1	NM_013358		41	144	41	144	---	---	---	---
RAP1GAP	5909	broad.mit.edu	37	1	21936075	21936075	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr1:21936075A>G	ENST00000374765.4	-	15	1264	c.1064T>C	c.(1063-1065)tTc>tCc	p.F355S	RAP1GAP_ENST00000542643.2_Missense_Mutation_p.F355S|RAP1GAP_ENST00000374761.2_Missense_Mutation_p.F386S|RAP1GAP_ENST00000374763.2_Missense_Mutation_p.F355S|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.F419S	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	355	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016)	p.F355S(1)|p.F386S(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		CACCTTCCTGAACACAGCGGG	0.612																																						uc001bex.2																			2	Substitution - Missense(2)		lung(2)	breast(2)|ovary(1)	3						c.(1063-1065)TTC>TCC		RAP1 GTPase activating protein isoform c							59.0	66.0	64.0					1																	21936075		2203	4299	6502	SO:0001583	missense	5909				regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding	g.chr1:21936075A>G	BC054490	CCDS218.1, CCDS53276.1, CCDS53277.1	1p36.1-p35	2009-09-14	2006-04-12	2006-04-12	ENSG00000076864	ENSG00000076864			9858	protein-coding gene	gene with protein product		600278	"""RAP1, GTPase activating protein 1"""	RAP1GA1		1904317	Standard	NM_001145657		Approved	KIAA0474, RAP1GAP1, RAP1GAPII	uc001bew.3	P47736	OTTHUMG00000007513	ENST00000374765.4:c.1064T>C	1.37:g.21936075A>G	ENSP00000363897:p.Phe355Ser					RAP1GAP_uc001bev.2_Missense_Mutation_p.F355S|RAP1GAP_uc001bew.2_Missense_Mutation_p.F419S|RAP1GAP_uc001bey.2_Missense_Mutation_p.F355S	p.F355S	NM_002885	NP_002876	P47736	RPGP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)	15	1322	-		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	355			Rap-GAP.		J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51	Missense_Mutation	SNP	ENST00000374765.4	37	c.1064T>C	CCDS218.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.096751	0.76870	.	.	ENSG00000076864	ENST00000290101;ENST00000374761;ENST00000542643;ENST00000374765;ENST00000374763;ENST00000374758	D;D;D;D	0.94613	-3.47;-3.47;-3.47;-3.47	5.71	5.71	0.89125	Rap/ran-GAP (2);	0.052623	0.85682	D	0.000000	D	0.97492	0.9179	M	0.88105	2.93	0.80722	D	1	P;D;D;D	0.89917	0.855;1.0;1.0;1.0	P;D;D;D	0.91635	0.634;0.999;0.991;0.999	D	0.98235	1.0485	10	0.87932	D	0	-19.8059	13.9478	0.64096	1.0:0.0:0.0:0.0	.	355;355;385;355	P47736-2;P47736;P47736-3;Q7Z5S8	.;RPGP1_HUMAN;.;.	S	419;386;355;355;385;355	ENSP00000290101:F419S;ENSP00000363893:F386S;ENSP00000441661:F355S;ENSP00000363897:F355S	ENSP00000290101:F419S	F	-	2	0	RAP1GAP	21808662	1.000000	0.71417	1.000000	0.80357	0.247000	0.25773	8.815000	0.91973	2.188000	0.69820	0.533000	0.62120	TTC		PASS	0.612	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019759.2	NM_002885		27	145	27	145	---	---	---	---
MTF1	4520	broad.mit.edu	37	1	38300828	38300828	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr1:38300828T>C	ENST00000373036.4	-	6	1053	c.913A>G	c.(913-915)Agt>Ggt	p.S305G		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	305					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cadmium ion (GO:0046686)|response to metal ion (GO:0010038)|response to oxidative stress (GO:0006979)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.S305G(1)		endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CTTTTGAGACTGTATTGAGTG	0.393																																						uc001cce.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(913-915)AGT>GGT		metal-regulatory transcription factor 1							313.0	268.0	283.0					1																	38300828		2203	4300	6503	SO:0001583	missense	4520					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding	g.chr1:38300828T>C	BC014454	CCDS30676.1	1p33	2008-02-05			ENSG00000188786	ENSG00000188786			7428	protein-coding gene	gene with protein product		600172				8065932	Standard	NM_005955		Approved		uc001cce.1	Q14872	OTTHUMG00000004439	ENST00000373036.4:c.913A>G	1.37:g.38300828T>C	ENSP00000362127:p.Ser305Gly					MTF1_uc009vvj.1_5'UTR	p.S305G	NM_005955	NP_005946	Q14872	MTF1_HUMAN			6	1054	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	305			C2H2-type 6.		B2RAK6|Q96CB1	Missense_Mutation	SNP	ENST00000373036.4	37	c.913A>G	CCDS30676.1	.	.	.	.	.	.	.	.	.	.	T	19.11	3.764550	0.69878	.	.	ENSG00000188786	ENST00000373036;ENST00000543396	T	0.15487	2.42	5.18	5.18	0.71444	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.18882	0.0453	L	0.54323	1.7	0.53688	D	0.999978	B	0.31383	0.321	B	0.26416	0.069	T	0.02037	-1.1225	10	0.54805	T	0.06	.	15.0426	0.71803	0.0:0.0:0.0:1.0	.	305	Q14872	MTF1_HUMAN	G	305;173	ENSP00000362127:S305G	ENSP00000362127:S305G	S	-	1	0	MTF1	38073415	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.883000	0.87264	1.951000	0.56629	0.528000	0.53228	AGT		PASS	0.393	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012984.2	NM_005955		3	176	3	176	---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39799867	39799867	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr1:39799867A>G	ENST00000372915.3	+	36	7709	c.7622A>G	c.(7621-7623)aAa>aGa	p.K2541R	MACF1_ENST00000289893.4_Missense_Mutation_p.K976R|MACF1_ENST00000567887.1_Missense_Mutation_p.K2573R|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000564288.1_Missense_Mutation_p.K2536R|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000476350.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2541					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.K976R(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAGAAACTCAAAAGAGTTGAG	0.363																																						uc010oiu.1																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(2926-2928)AAA>AGA		microfilament and actin filament cross-linker							59.0	63.0	61.0					1																	39799867		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39799867A>G	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.7622A>G	1.37:g.39799867A>G	ENSP00000362006:p.Lys2541Arg					MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	p.K976R	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	3058	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	2541			Plectin 9.		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.2927A>G		.	.	.	.	.	.	.	.	.	.	A	3.947	-0.012979	0.07727	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.72942	-0.7;-0.7	5.57	0.752	0.18398	.	1.007550	0.07970	N	0.983783	T	0.49133	0.1539	N	0.16478	0.41	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.32903	-0.9889	10	0.08381	T	0.77	.	7.294	0.26383	0.3535:0.0:0.5098:0.1367	.	2541	Q9UPN3	MACF1_HUMAN	R	2541;976	ENSP00000362006:K2541R;ENSP00000289893:K976R	ENSP00000289893:K976R	K	+	2	0	MACF1	39572454	0.000000	0.05858	0.937000	0.37676	0.439000	0.31926	-0.838000	0.04372	-0.110000	0.12022	0.459000	0.35465	AAA		PASS	0.363	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		5	153	5	153	---	---	---	---
C1orf87	127795	broad.mit.edu	37	1	60476071	60476071	+	Silent	SNP	C	C	T			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr1:60476071C>T	ENST00000371201.3	-	9	1292	c.1185G>A	c.(1183-1185)ttG>ttA	p.L395L	C1orf87_ENST00000395552.1_5'Flank|C1orf87_ENST00000486478.1_5'Flank|C1orf87_ENST00000450089.2_Silent_p.L166L	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	395							calcium ion binding (GO:0005509)	p.L395L(2)		breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CACCTGTAGGCAAATCAGATA	0.388																																					NSCLC(75;811 1386 4923 13371 51772)	uc001czs.1																			2	Substitution - coding silent(2)		large_intestine(1)|lung(1)	ovary(1)|breast(1)	2						c.(1183-1185)TTG>TTA		hypothetical protein LOC127795							126.0	125.0	125.0					1																	60476071		2203	4300	6503	SO:0001819	synonymous_variant	127795						calcium ion binding	g.chr1:60476071C>T	AK124828	CCDS614.1	1p32.1	2014-04-03			ENSG00000162598	ENSG00000162598			28547	protein-coding gene	gene with protein product	"""carcinoma-related EF-hand protein"""					12477932	Standard	NM_152377		Approved	MGC34837, CREF	uc001czs.2	Q8N0U7	OTTHUMG00000008992	ENST00000371201.3:c.1185G>A	1.37:g.60476071C>T						C1orf87_uc001czr.1_5'Flank	p.L395L	NM_152377	NP_689590	Q8N0U7	CA087_HUMAN			9	1277	-			395					Q6ZU07|Q8IVS0	Silent	SNP	ENST00000371201.3	37	c.1185G>A	CCDS614.1																																																																																				PASS	0.388	C1orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024943.1	NM_152377		16	102	16	102	---	---	---	---
SRSF11	9295	broad.mit.edu	37	1	70716181	70716181	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr1:70716181G>A	ENST00000370950.3	+	12	1334	c.1252G>A	c.(1252-1254)Gta>Ata	p.V418I	SRSF11_ENST00000370949.1_Missense_Mutation_p.V358I|SRSF11_ENST00000484162.1_3'UTR|SRSF11_ENST00000405432.1_Missense_Mutation_p.V418I|SRSF11_ENST00000370951.1_Missense_Mutation_p.V418I			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11	418					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.V418I(1)		large_intestine(3)|ovary(2)|skin(1)	6						TGATAAAGATGTAAAAGTATG	0.313																																						uc001des.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1252-1254)GTA>ATA		splicing factor, arginine/serine-rich 11							89.0	98.0	95.0					1																	70716181		2203	4298	6501	SO:0001583	missense	9295				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr1:70716181G>A	M74002	CCDS647.1, CCDS53332.1	1p31.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000116754	ENSG00000116754		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10782	protein-coding gene	gene with protein product	"""SR splicing factor 11"""	602010	"""splicing factor, arginine/serine-rich 11"""	SFRS11		1896467, 20516191	Standard	NM_004768		Approved	p54, NET2	uc001des.3	Q05519	OTTHUMG00000009342	ENST00000370950.3:c.1252G>A	1.37:g.70716181G>A	ENSP00000359988:p.Val418Ile					SFRS11_uc001det.2_Missense_Mutation_p.V418I|SFRS11_uc001deu.2_Missense_Mutation_p.V425I|SFRS11_uc001dev.2_Missense_Mutation_p.V228I|SFRS11_uc001dew.2_Missense_Mutation_p.V358I	p.V418I	NM_004768	NP_004759	Q05519	SRS11_HUMAN			12	1376	+			418					Q5T758|Q8IWE6	Missense_Mutation	SNP	ENST00000370950.3	37	c.1252G>A	CCDS647.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.614779	0.66672	.	.	ENSG00000116754	ENST00000370951;ENST00000370950;ENST00000405432;ENST00000370949	D;T;T;T	0.83992	-1.79;2.18;2.18;-0.53	5.34	5.34	0.76211	.	0.447894	0.23310	N	0.049577	T	0.79161	0.4399	N	0.22421	0.69	0.80722	D	1	D;P;P	0.56287	0.975;0.646;0.646	P;B;B	0.61003	0.882;0.225;0.225	T	0.75291	-0.3369	10	0.18276	T	0.48	.	19.0181	0.92902	0.0:0.0:1.0:0.0	.	358;418;418	Q5T757;Q8IWE6;Q05519	.;.;SRS11_HUMAN	I	418;418;418;358	ENSP00000359989:V418I;ENSP00000359988:V418I;ENSP00000384357:V418I;ENSP00000359987:V358I	ENSP00000359987:V358I	V	+	1	0	SRSF11	70488769	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.459000	0.73513	2.665000	0.90641	0.563000	0.77884	GTA		PASS	0.313	SRSF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025889.1	NM_004768		32	115	32	115	---	---	---	---
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74701805	74701805	+	Silent	SNP	C	C	T			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr1:74701805C>T	ENST00000370899.3	+	4	400	c.363C>T	c.(361-363)gtC>gtT	p.V121V	FPGT-TNNI3K_ENST00000370895.1_Silent_p.V121V|FPGT-TNNI3K_ENST00000533006.1_3'UTR|TNNI3K_ENST00000326637.3_Silent_p.V20V|FPGT-TNNI3K_ENST00000557284.2_Silent_p.V134V|FPGT-TNNI3K_ENST00000370893.1_Silent_p.V121V|TNNI3K_ENST00000370891.2_Silent_p.V121V	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough									p.V20V(1)									AGAAAAAAGTCAGTGAATCAT	0.308																																						uc001dgf.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(58-60)GTC>GTT		TNNI3 interacting kinase isoform b							96.0	100.0	99.0					1																	74701805		2203	4295	6498	SO:0001819	synonymous_variant	51086					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	g.chr1:74701805C>T			1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.363C>T	1.37:g.74701805C>T						TNNI3K_uc001dgc.1_Silent_p.V121V|TNNI3K_uc001dgd.2_Silent_p.V121V|TNNI3K_uc001dge.1_Silent_p.V121V	p.V20V	NM_015978	NP_057062	Q59H18	TNI3K_HUMAN			2	111	+			20						Silent	SNP	ENST00000370899.3	37	c.60C>T																																																																																					PASS	0.308	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3			5	55	5	55	---	---	---	---
LPHN2	23266	broad.mit.edu	37	1	82408777	82408777	+	Silent	SNP	C	C	T			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr1:82408777C>T	ENST00000370728.1	+	8	1167	c.522C>T	c.(520-522)ccC>ccT	p.P174P	LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000319517.6_Silent_p.P174P|LPHN2_ENST00000370730.1_Silent_p.P174P|LPHN2_ENST00000370717.2_Silent_p.P174P|LPHN2_ENST00000370727.1_Silent_p.P174P|LPHN2_ENST00000271029.4_Silent_p.P174P|LPHN2_ENST00000370721.1_Silent_p.P178P|LPHN2_ENST00000359929.3_Silent_p.P174P|LPHN2_ENST00000335786.5_Silent_p.P174P|LPHN2_ENST00000370713.1_Silent_p.P174P|LPHN2_ENST00000370725.1_Silent_p.P174P|LPHN2_ENST00000394879.1_Silent_p.P174P|LPHN2_ENST00000370715.1_Silent_p.P174P|LPHN2_ENST00000370723.1_Silent_p.P174P			O95490	LPHN2_HUMAN	latrophilin 2	174	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)	p.P174P(2)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ATTTCATGCCCTGGACTCCCT	0.398																																						uc001dit.3																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9						c.(520-522)CCC>CCT		latrophilin 2 precursor							75.0	81.0	79.0					1																	82408777		2203	4298	6501	SO:0001819	synonymous_variant	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82408777C>T	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.522C>T	1.37:g.82408777C>T						LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Silent_p.P174P|LPHN2_uc001div.2_Silent_p.P174P|LPHN2_uc009wcd.2_Silent_p.P174P	p.P174P	NM_012302	NP_036434	O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	6	703	+			174			Extracellular (Potential).|Olfactomedin-like.		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Silent	SNP	ENST00000370728.1	37	c.522C>T		.	.	.	.	.	.	.	.	.	.	C	4.490	0.090790	0.08632	.	.	ENSG00000117114	ENST00000449420	D	0.88741	-2.42	5.9	4.92	0.64577	.	0.000000	0.85682	D	0.000000	D	0.90380	0.6989	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.91035	0.4867	7	0.87932	D	0	.	11.6265	0.51149	0.3813:0.6187:0.0:0.0	.	.	.	.	L	42	ENSP00000397740:P42L	ENSP00000397740:P42L	P	+	2	0	LPHN2	82181365	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.676000	0.37565	2.788000	0.95919	0.650000	0.86243	CCT		PASS	0.398	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		36	151	36	151	---	---	---	---
LPAR3	23566	broad.mit.edu	37	1	85279701	85279701	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr1:85279701T>C	ENST00000440886.1	-	2	928	c.890A>G	c.(889-891)gAc>gGc	p.D297G	LPAR3_ENST00000491034.1_5'UTR|LPAR3_ENST00000370611.3_Missense_Mutation_p.D297G			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	297					activation of MAPK activity (GO:0000187)|bleb assembly (GO:0032060)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|synaptic transmission (GO:0007268)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)	p.D297G(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						CATGTCCTCGTCCTTGTAGGA	0.567																																						uc001dkl.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)	5						c.(889-891)GAC>GGC		lysophosphatidic acid receptor 3							120.0	111.0	114.0					1																	85279701		2203	4300	6503	SO:0001583	missense	23566				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle		g.chr1:85279701T>C	AF127138	CCDS700.1	1p22.3	2012-08-08	2008-04-11	2008-04-11	ENSG00000171517	ENSG00000171517		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	14298	protein-coding gene	gene with protein product		605106	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 7"""	EDG7		10488122	Standard	NM_012152		Approved	LP-A3, Edg-7, RP4-678I3, HOFNH30, LPA3	uc009wcj.1	Q9UBY5	OTTHUMG00000009925	ENST00000440886.1:c.890A>G	1.37:g.85279701T>C	ENSP00000395389:p.Asp297Gly					LPAR3_uc009wcj.1_Missense_Mutation_p.D297G	p.D297G	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN			2	929	-			297			Helical; Name=7; (Potential).		A0AVA3	Missense_Mutation	SNP	ENST00000440886.1	37	c.890A>G	CCDS700.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.492957	0.84962	.	.	ENSG00000171517	ENST00000440886;ENST00000370611	T;T	0.35973	1.28;1.28	5.65	4.5	0.54988	.	0.046656	0.85682	D	0.000000	T	0.32645	0.0836	L	0.27053	0.805	0.50313	D	0.999868	D	0.69078	0.997	D	0.77004	0.989	T	0.25328	-1.0135	10	0.59425	D	0.04	.	11.3298	0.49468	0.1362:0.0:0.0:0.8638	.	297	Q9UBY5	LPAR3_HUMAN	G	297	ENSP00000395389:D297G;ENSP00000359643:D297G	ENSP00000359643:D297G	D	-	2	0	LPAR3	85052289	1.000000	0.71417	0.830000	0.32933	0.971000	0.66376	8.013000	0.88655	0.941000	0.37499	0.528000	0.53228	GAC		PASS	0.567	LPAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027467.1	NM_012152		23	129	23	129	---	---	---	---
CHIA	27159	broad.mit.edu	37	1	111854925	111854925	+	Missense_Mutation	SNP	G	G	A	rs182022651	byFrequency	TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr1:111854925G>A	ENST00000369740.1	+	4	272	c.169G>A	c.(169-171)Gcc>Acc	p.A57T	CHIA_ENST00000343320.6_Missense_Mutation_p.A57T|CHIA_ENST00000451398.2_Intron|CHIA_ENST00000483391.1_Intron|CHIA_ENST00000430615.1_Intron|CHIA_ENST00000353665.6_Intron	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	57					apoptotic process (GO:0006915)|cell wall chitin metabolic process (GO:0006037)|chitin catabolic process (GO:0006032)|chitin metabolic process (GO:0006030)|digestion (GO:0007586)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|positive regulation of chemokine secretion (GO:0090197)|production of molecular mediator involved in inflammatory response (GO:0002532)|response to fungus (GO:0009620)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|chitinase activity (GO:0004568)|kinase binding (GO:0019900)|lysozyme activity (GO:0003796)	p.A57T(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		CCTGATCTACGCCTTTGCTGG	0.542													G|||	8	0.00159744	0.0	0.0101	5008	,	,		19646	0.001		0.0	False		,,,				2504	0.0					uc001eas.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(169-171)GCC>ACC		acidic chitinase isoform c		G	,THR/ALA	0,4040		0,0,2020	120.0	117.0	118.0		,169	3.0	1.0	1		118	6,8374		0,6,4184	yes	intron,missense	CHIA	NM_021797.2,NM_201653.2	,58	0,6,6204	AA,AG,GG		0.0716,0.0,0.0483	,probably-damaging	,57/477	111854925	6,12414	2020	4190	6210	SO:0001583	missense	27159				apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding	g.chr1:111854925G>A	AF290004	CCDS832.1, CCDS41368.1, CCDS58017.1	1p13.2	2008-05-14			ENSG00000134216	ENSG00000134216			17432	protein-coding gene	gene with protein product		606080				11085997	Standard	NM_021797		Approved	AMCase, TSA1902, CHIT2	uc001eas.4	Q9BZP6	OTTHUMG00000011165	ENST00000369740.1:c.169G>A	1.37:g.111854925G>A	ENSP00000358755:p.Ala57Thr					CHIA_uc001ear.2_Intron|CHIA_uc001eaq.2_Intron|CHIA_uc009wgc.2_Intron|CHIA_uc001eat.2_Intron|CHIA_uc001eav.2_Intron|CHIA_uc001eau.2_Intron|CHIA_uc009wgd.2_Intron	p.A57T	NM_201653	NP_970615	Q9BZP6	CHIA_HUMAN		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)	4	272	+		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)	57					Q32W79|Q32W80|Q3B866|Q5U5Z5|Q5VUV4|Q86UD8|Q9ULY3|Q9ULY4	Missense_Mutation	SNP	ENST00000369740.1	37	c.169G>A	CCDS41368.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	1	0.0017482517482517483	0	0.0	G	19.73	3.882646	0.72410	0.0	7.16E-4	ENSG00000134216	ENST00000369740;ENST00000343320	T;T	0.08896	3.04;3.04	4.93	2.97	0.34412	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.52532	U	0.000075	T	0.20292	0.0488	M	0.86805	2.84	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.02484	-1.1152	10	0.54805	T	0.06	-10.2254	12.0271	0.53377	0.0:0.0:0.6896:0.3104	.	57	Q9BZP6	CHIA_HUMAN	T	57	ENSP00000358755:A57T;ENSP00000341828:A57T	ENSP00000341828:A57T	A	+	1	0	CHIA	111656448	1.000000	0.71417	0.989000	0.46669	0.568000	0.35870	4.076000	0.57591	0.534000	0.28695	0.655000	0.94253	GCC		PASS	0.542	CHIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030710.1			21	126	21	126	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152277864	152277864	+	Silent	SNP	A	A	G			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr1:152277864A>G	ENST00000368799.1	-	3	9533	c.9498T>C	c.(9496-9498)cgT>cgC	p.R3166R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3166	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.R3166R(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTCCTCATTACGTGTTGTTC	0.557									Ichthyosis																													uc001ezu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(9496-9498)CGT>CGC		filaggrin							262.0	263.0	263.0					1																	152277864		2201	4300	6501	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152277864A>G	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.9498T>C	1.37:g.152277864A>G							p.R3166R	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	9534	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3166			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.9498T>C	CCDS30860.1																																																																																				PASS	0.557	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		207	422	207	422	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152283889	152283889	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr1:152283889G>C	ENST00000368799.1	-	3	3508	c.3473C>G	c.(3472-3474)tCc>tGc	p.S1158C	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1158	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.S1158C(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCCTCTTGGGACGCTGAGTG	0.597									Ichthyosis																													uc001ezu.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(3472-3474)TCC>TGC		filaggrin							233.0	283.0	266.0					1																	152283889		2203	4298	6501	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152283889G>C	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3473C>G	1.37:g.152283889G>C	ENSP00000357789:p.Ser1158Cys					uc001ezv.2_5'Flank	p.S1158C	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3509	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1158			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.3473C>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	5.658	0.306000	0.10733	.	.	ENSG00000143631	ENST00000368799	T	0.03801	3.8	3.47	2.49	0.30216	.	.	.	.	.	T	0.10078	0.0247	M	0.77616	2.38	0.09310	N	1	D	0.89917	1.0	D	0.75484	0.986	T	0.06058	-1.0848	9	0.59425	D	0.04	.	8.7443	0.34575	0.0:0.2319:0.7681:0.0	.	1158	P20930	FILA_HUMAN	C	1158	ENSP00000357789:S1158C	ENSP00000357789:S1158C	S	-	2	0	FLG	150550513	0.022000	0.18835	0.020000	0.16555	0.017000	0.09413	3.204000	0.51082	1.784000	0.52394	0.186000	0.17326	TCC		PASS	0.597	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		9	694	9	694	---	---	---	---
FLG2	388698	broad.mit.edu	37	1	152325143	152325143	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr1:152325143G>T	ENST00000388718.5	-	3	5191	c.5119C>A	c.(5119-5121)Cac>Aac	p.H1707N	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1707					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.H1707N(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGATGATAGTGGGCATGTCTA	0.488																																						uc001ezw.3																			1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(5119-5121)CAC>AAC		filaggrin family member 2							405.0	356.0	372.0					1																	152325143		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152325143G>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.5119C>A	1.37:g.152325143G>T	ENSP00000373370:p.His1707Asn					uc001ezv.2_Intron	p.H1707N	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5192	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1707					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.5119C>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	6.594	0.478036	0.12521	.	.	ENSG00000143520	ENST00000388718	T	0.03689	3.84	3.06	3.06	0.35304	.	.	.	.	.	T	0.00998	0.0033	L	0.43152	1.355	0.09310	N	1	P	0.38978	0.652	B	0.27887	0.084	T	0.41448	-0.9508	9	0.11794	T	0.64	1.986	9.8927	0.41300	0.0:0.0:1.0:0.0	.	1707	Q5D862	FILA2_HUMAN	N	1707	ENSP00000373370:H1707N	ENSP00000373370:H1707N	H	-	1	0	FLG2	150591767	0.001000	0.12720	0.019000	0.16419	0.022000	0.10575	0.763000	0.26517	2.034000	0.60081	0.456000	0.33151	CAC		PASS	0.488	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		110	531	110	531	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158651388	158651388	+	Silent	SNP	A	A	G			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr1:158651388A>G	ENST00000368147.4	-	4	640	c.460T>C	c.(460-462)Ttg>Ctg	p.L154L		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	154			L -> LL (in EL2).		actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.L154L(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCCCGCAGCAACTGGTCACCC	0.522																																						uc001fst.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(460-462)TTG>CTG		spectrin, alpha, erythrocytic 1							159.0	164.0	162.0					1																	158651388		2021	4176	6197	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158651388A>G	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.460T>C	1.37:g.158651388A>G							p.L154L	NM_003126	NP_003117	P02549	SPTA1_HUMAN			4	659	-	all_hematologic(112;0.0378)		154		L -> LL (in EL2).	Spectrin 2.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.460T>C	CCDS41423.1																																																																																				PASS	0.522	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		83	224	83	224	---	---	---	---
ITLN1	55600	broad.mit.edu	37	1	160850481	160850481	+	Nonsense_Mutation	SNP	A	A	T			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr1:160850481A>T	ENST00000326245.3	-	6	697	c.582T>A	c.(580-582)taT>taA	p.Y194*	ITLN1_ENST00000487531.1_5'UTR	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	194	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				positive regulation of glucose import (GO:0046326)|positive regulation of protein phosphorylation (GO:0001934)|response to nematode (GO:0009624)	anchored component of membrane (GO:0031225)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)	p.Y194*(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TTCCTTCTCCATATTTCACTG	0.453																																						uc001fxc.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)	7						c.(580-582)TAT>TAA		intelectin precursor							140.0	138.0	138.0					1																	160850481		2203	4300	6503	SO:0001587	stop_gained	55600				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding	g.chr1:160850481A>T	AB036706	CCDS1211.1	1q21.3	2008-02-05			ENSG00000179914	ENSG00000179914			18259	protein-coding gene	gene with protein product		609873				11313366, 11181563	Standard	NM_017625		Approved	ITLN, FLJ20022, LFR, HL-1, hIntL	uc001fxc.3	Q8WWA0	OTTHUMG00000028604	ENST00000326245.3:c.582T>A	1.37:g.160850481A>T	ENSP00000323587:p.Tyr194*						p.Y194*	NM_017625	NP_060095	Q8WWA0	ITLN1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		6	698	-	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		194			Fibrinogen C-terminal.		Q5IWS4|Q5VYI4|Q6YDJ3|Q9NP67	Nonsense_Mutation	SNP	ENST00000326245.3	37	c.582T>A	CCDS1211.1	.	.	.	.	.	.	.	.	.	.	A	14.93	2.683410	0.47991	.	.	ENSG00000179914	ENST00000326245	.	.	.	4.17	-1.03	0.10102	.	0.101533	0.41712	D	0.000825	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.3935	8.1316	0.31031	0.6209:0.0:0.3791:0.0	.	.	.	.	X	194	.	ENSP00000323587:Y194X	Y	-	3	2	ITLN1	159117105	0.001000	0.12720	0.424000	0.26647	0.061000	0.15899	-0.467000	0.06664	-0.410000	0.07542	-0.250000	0.11733	TAT		PASS	0.453	ITLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071462.1	NM_017625		102	225	102	225	---	---	---	---
RC3H1	149041	broad.mit.edu	37	1	173933297	173933297	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr1:173933297C>A	ENST00000367696.2	-	11	1996	c.1645G>T	c.(1645-1647)Gcc>Tcc	p.A549S	RC3H1_ENST00000367694.2_Missense_Mutation_p.A549S|RC3H1_ENST00000258349.4_Missense_Mutation_p.A549S			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	549	Pro-rich.				B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A549S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						ACAGGTAAGGCAGAAATACTC	0.398																																						uc001gju.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1645-1647)GCC>TCC		roquin							89.0	88.0	88.0					1																	173933297		2203	4300	6503	SO:0001583	missense	149041				cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:173933297C>A	AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	29434	protein-coding gene	gene with protein product	"""KIAA2025 protein"""	609424	"""ring finger and CCCH-type zinc finger domains 1"""			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.1645G>T	1.37:g.173933297C>A	ENSP00000356669:p.Ala549Ser					RC3H1_uc010pms.1_Missense_Mutation_p.A549S|RC3H1_uc001gjv.2_Missense_Mutation_p.A549S|RC3H1_uc010pmt.1_Missense_Mutation_p.A549S	p.A549S	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN			10	1732	-			549			Pro-rich.		B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Missense_Mutation	SNP	ENST00000367696.2	37	c.1645G>T	CCDS30940.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.324849	0.41197	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	T;T;T	0.43294	0.95;0.95;0.95	5.72	3.85	0.44370	.	0.359070	0.32161	N	0.006483	T	0.34774	0.0909	L	0.44542	1.39	0.52501	D	0.999953	B;D;D;B	0.58970	0.172;0.984;0.976;0.172	B;D;P;B	0.68192	0.023;0.956;0.63;0.023	T	0.17258	-1.0375	10	0.11794	T	0.64	-5.6387	11.0267	0.47748	0.1295:0.8036:0.0:0.0669	.	549;549;549;549	B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82	.;.;.;RC3H1_HUMAN	S	549	ENSP00000356669:A549S;ENSP00000258349:A549S;ENSP00000356667:A549S	ENSP00000258349:A549S	A	-	1	0	RC3H1	172199920	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.981000	0.49329	0.761000	0.33130	0.591000	0.81541	GCC		PASS	0.398	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	NM_172071		24	68	24	68	---	---	---	---
KCNT2	343450	broad.mit.edu	37	1	196436902	196436902	+	Silent	SNP	G	G	A			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr1:196436902G>A	ENST00000294725.9	-	7	1389	c.474C>T	c.(472-474)tcC>tcT	p.S158S	KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000367431.4_Silent_p.S158S|KCNT2_ENST00000609185.1_Silent_p.S158S|KCNT2_ENST00000498426.1_5'Flank|KCNT2_ENST00000367433.5_Silent_p.S158S			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	158					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.S158S(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GATTCCTTAAGGAAGGCCAGA	0.323																																						uc001gtd.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|breast(1)|skin(1)	7						c.(472-474)TCC>TCT		potassium channel, subfamily T, member 2							40.0	42.0	41.0					1																	196436902		2203	4293	6496	SO:0001819	synonymous_variant	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196436902G>A	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.474C>T	1.37:g.196436902G>A						KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Silent_p.S158S|KCNT2_uc001gtf.1_Silent_p.S158S|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Silent_p.S158S|KCNT2_uc009wyv.1_Silent_p.S133S	p.S158S	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN			7	534	-			158			Helical; Name=Segment S3; (Potential).		Q3SY59|Q5VTN1|Q6ZMT3	Silent	SNP	ENST00000294725.9	37	c.474C>T	CCDS1384.1																																																																																				PASS	0.323	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		6	59	6	59	---	---	---	---
DENND1B	163486	broad.mit.edu	37	1	197576299	197576299	+	Silent	SNP	C	C	A			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr1:197576299C>A	ENST00000367396.3	-	13	994	c.825G>T	c.(823-825)gtG>gtT	p.V275V	DENND1B_ENST00000235453.4_Silent_p.V245V|DENND1B_ENST00000400967.2_Silent_p.V245V	NM_144977.4	NP_659414.2	Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B	275	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.V245V(1)|p.V275V(1)		NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						ATTTGTTTTTCACTCTCTATA	0.274																																						uc001guf.3																			2	Substitution - coding silent(2)		lung(2)		0						c.(823-825)GTG>GTT		DENN/MADD domain containing 1B isoform 2							82.0	73.0	76.0					1																	197576299		1818	4074	5892	SO:0001819	synonymous_variant	163486					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	g.chr1:197576299C>A	BC016588	CCDS41452.2, CCDS72996.1, CCDS72997.1	1q31.3	2012-10-03	2005-08-17	2005-08-17	ENSG00000213047	ENSG00000213047		"""DENN/MADD domain containing"""	28404	protein-coding gene	gene with protein product		613292	"""family with sequence similarity 31, member B"", ""chromosome 1 open reading frame 218"""	FAM31B, C1orf218		12477932	Standard	NM_144977		Approved	MGC27044, FLJ20054	uc021pgu.1	Q6P3S1	OTTHUMG00000035653	ENST00000367396.3:c.825G>T	1.37:g.197576299C>A						DENND1B_uc010ppe.1_Silent_p.V255V|DENND1B_uc010ppf.1_RNA|DENND1B_uc001gue.3_Silent_p.V245V|DENND1B_uc001gug.3_Silent_p.V74V	p.V275V	NM_144977	NP_659414	Q6P3S1	DEN1B_HUMAN			13	1163	-			275			DENN.		B5MD89|D3PFD5|Q5T3B8|Q5T3B9|Q5T3C1|Q5TAI8|Q6B0I8|Q8NDT1|Q8TBE6|Q9H774|Q9NXU2	Silent	SNP	ENST00000367396.3	37	c.825G>T	CCDS41452.2																																																																																				PASS	0.274	DENND1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086539.1	NM_144977		3	58	3	58	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	215848337	215848337	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr1:215848337G>T	ENST00000307340.3	-	63	13302	c.12916C>A	c.(12916-12918)Ctc>Atc	p.L4306I	USH2A_ENST00000366943.2_Missense_Mutation_p.L4306I	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4306	Fibronectin type-III 28. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)	p.L4306I(1)		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)		AAAGGATAGAGCATTTCATTC	0.418										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(12916-12918)CTC>ATC		usherin isoform B							105.0	103.0	103.0					1																	215848337		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.chr1:215848337G>T	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.12916C>A	1.37:g.215848337G>T	ENSP00000305941:p.Leu4306Ile	HNSCC(13;0.011)					p.L4306I	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	63	13303	-			4306			Fibronectin type-III 28.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.12916C>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	4.287	0.052536	0.08291	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.57436	0.4;0.59	5.24	2.32	0.28847	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.190874	0.25430	N	0.030725	T	0.45776	0.1359	M	0.69358	2.11	0.09310	N	1	P	0.38677	0.642	B	0.38106	0.265	T	0.27226	-1.0080	10	0.18710	T	0.47	.	8.4758	0.33012	0.2986:0.0:0.7014:0.0	.	4306	O75445	USH2A_HUMAN	I	4306	ENSP00000305941:L4306I;ENSP00000355910:L4306I	ENSP00000305941:L4306I	L	-	1	0	USH2A	213914960	0.000000	0.05858	0.001000	0.08648	0.212000	0.24457	0.159000	0.16442	0.587000	0.29643	0.563000	0.77884	CTC		PASS	0.418	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		56	138	56	138	---	---	---	---
ESRRG	2104	broad.mit.edu	37	1	216850766	216850766	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr1:216850766C>G	ENST00000408911.3	-	2	277	c.124G>C	c.(124-126)Gaa>Caa	p.E42Q	ESRRG_ENST00000366937.1_Missense_Mutation_p.E47Q|ESRRG_ENST00000391890.3_Missense_Mutation_p.E19Q|ESRRG_ENST00000361525.3_Missense_Mutation_p.E19Q|ESRRG_ENST00000493603.1_Missense_Mutation_p.E19Q|ESRRG_ENST00000463665.1_Missense_Mutation_p.E19Q|ESRRG_ENST00000359162.2_Missense_Mutation_p.E19Q|ESRRG_ENST00000366940.2_Missense_Mutation_p.E19Q|ESRRG_ENST00000361395.2_Missense_Mutation_p.E19Q|ESRRG_ENST00000487276.1_Missense_Mutation_p.E19Q|ESRRG_ENST00000366938.2_Missense_Mutation_p.E19Q|ESRRG_ENST00000493748.1_Missense_Mutation_p.E19Q|ESRRG_ENST00000360012.3_Missense_Mutation_p.E19Q	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	42					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.E42Q(1)		endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CTGGAAGGTTCCGTCTTGATG	0.517																																						uc001hkw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(124-126)GAA>CAA		estrogen-related receptor gamma isoform 1	Diethylstilbestrol(DB00255)						102.0	91.0	95.0					1																	216850766		2203	4300	6503	SO:0001583	missense	2104				positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:216850766C>G	AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"""Nuclear hormone receptors"""	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.124G>C	1.37:g.216850766C>G	ENSP00000386171:p.Glu42Gln					ESRRG_uc001hky.1_Missense_Mutation_p.E19Q|ESRRG_uc009xdp.1_Missense_Mutation_p.E19Q|ESRRG_uc001hkz.1_Missense_Mutation_p.E19Q|ESRRG_uc010puc.1_Missense_Mutation_p.E19Q|ESRRG_uc001hla.1_Missense_Mutation_p.E19Q|ESRRG_uc001hlb.1_Missense_Mutation_p.E19Q|ESRRG_uc010pud.1_Intron|ESRRG_uc001hlc.1_Missense_Mutation_p.E19Q|ESRRG_uc001hld.1_Missense_Mutation_p.E19Q|ESRRG_uc001hkx.1_Missense_Mutation_p.E47Q|ESRRG_uc009xdo.1_Missense_Mutation_p.E19Q|ESRRG_uc001hle.1_Missense_Mutation_p.E19Q	p.E42Q	NM_001438	NP_001429	P62508	ERR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	2	290	-			42	E->A: 4-fold increase in transcriptional activity.				A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Missense_Mutation	SNP	ENST00000408911.3	37	c.124G>C	CCDS41468.1	.	.	.	.	.	.	.	.	.	.	C	33	5.232332	0.95207	.	.	ENSG00000196482	ENST00000361525;ENST00000366940;ENST00000366937;ENST00000408911;ENST00000359162;ENST00000361395;ENST00000366938;ENST00000360012;ENST00000493603;ENST00000391890;ENST00000463665;ENST00000487276;ENST00000354407;ENST00000493748;ENST00000475275;ENST00000469486;ENST00000459955;ENST00000481543	D;D;D;D;D;D;D;D;D;D;D;D;D;D;T;T;T	0.96232	-3.4;-3.4;-3.44;-3.33;-3.4;-3.4;-3.4;-3.4;-3.4;-3.42;-3.95;-3.4;-3.4;-3.22;-0.01;-0.26;-0.34	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.97776	0.9270	M	0.61703	1.905	0.80722	D	1	D;D;D	0.89917	1.0;0.989;0.981	D;D;D	0.91635	0.999;0.979;0.932	D	0.96585	0.9433	10	0.35671	T	0.21	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	19;47;42	E9PGB7;F8W8J3;P62508	.;.;ERR3_HUMAN	Q	19;19;47;42;19;19;19;19;19;19;19;19;19;19;19;19;19;19	ENSP00000355225:E19Q;ENSP00000355907:E19Q;ENSP00000355904:E47Q;ENSP00000386171:E42Q;ENSP00000352077:E19Q;ENSP00000354584:E19Q;ENSP00000355905:E19Q;ENSP00000353108:E19Q;ENSP00000419594:E19Q;ENSP00000375761:E19Q;ENSP00000418629:E19Q;ENSP00000419155:E19Q;ENSP00000417374:E19Q;ENSP00000419514:E19Q;ENSP00000417900:E19Q;ENSP00000420370:E19Q;ENSP00000418895:E19Q	ENSP00000346386:E19Q	E	-	1	0	ESRRG	214917389	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	GAA		PASS	0.517	ESRRG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089882.2	NM_206595		30	66	30	66	---	---	---	---
DISP1	84976	broad.mit.edu	37	1	223177009	223177009	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr1:223177009C>G	ENST00000284476.6	+	8	2434	c.2270C>G	c.(2269-2271)tCg>tGg	p.S757W		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	757					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)	p.S757W(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GTGTTCCGGTCGTCCCATCCT	0.463																																						uc001hnu.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2269-2271)TCG>TGG		dispatched A							94.0	92.0	93.0					1																	223177009		2203	4300	6503	SO:0001583	missense	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223177009C>G	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.2270C>G	1.37:g.223177009C>G	ENSP00000284476:p.Ser757Trp						p.S757W	NM_032890	NP_116279	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	2417	+			757					Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.2270C>G	CCDS1536.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.674494	0.67928	.	.	ENSG00000154309	ENST00000284476	D	0.93488	-3.23	5.43	5.43	0.79202	.	0.271361	0.43260	D	0.000584	D	0.96175	0.8753	M	0.64997	1.995	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.95835	0.8861	10	0.54805	T	0.06	-3.5182	19.5999	0.95557	0.0:1.0:0.0:0.0	.	757	Q96F81	DISP1_HUMAN	W	757	ENSP00000284476:S757W	ENSP00000284476:S757W	S	+	2	0	DISP1	221243632	1.000000	0.71417	0.105000	0.21289	0.989000	0.77384	7.776000	0.85560	2.700000	0.92200	0.655000	0.94253	TCG		PASS	0.463	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		45	151	45	151	---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228509756	228509756	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr1:228509756G>A	ENST00000422127.1	+	55	15258	c.15214G>A	c.(15214-15216)Gta>Ata	p.V5072I	OBSCN_ENST00000366707.4_Missense_Mutation_p.V2706I|OBSCN_ENST00000284548.11_Missense_Mutation_p.V5072I|OBSCN_ENST00000366709.4_Missense_Mutation_p.V2191I|OBSCN_ENST00000570156.2_Missense_Mutation_p.V6029I	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5072					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.V5072I(1)|p.V5784I(1)|p.V5654I(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCGCCAGGCGGTAACTCGCTT	0.592																																						uc009xez.1																			3	Substitution - Missense(3)		lung(3)	stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(15214-15216)GTA>ATA		obscurin, cytoskeletal calmodulin and							30.0	34.0	33.0					1																	228509756		2015	4178	6193	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228509756G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.15214G>A	1.37:g.228509756G>A	ENSP00000409493:p.Val5072Ile					OBSCN_uc001hsn.2_Missense_Mutation_p.V5072I	p.V5072I	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			55	15258	+		Prostate(94;0.0405)	5072					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.15214G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.219296	0.39201	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.61980	0.49;0.06;0.09;0.65	5.06	2.89	0.33648	.	0.266749	0.31370	N	0.007762	T	0.38427	0.1040	N	0.14661	0.345	0.09310	N	1	B;B	0.32467	0.255;0.372	B;B	0.27500	0.037;0.08	T	0.22243	-1.0222	10	0.29301	T	0.29	.	9.7881	0.40688	0.0843:0.0:0.7721:0.1437	.	5072;5072	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	I	5072;5072;2706;2191	ENSP00000284548:V5072I;ENSP00000409493:V5072I;ENSP00000355668:V2706I;ENSP00000355670:V2191I	ENSP00000284548:V5072I	V	+	1	0	OBSCN	226576379	0.966000	0.33281	0.049000	0.19019	0.611000	0.37282	3.567000	0.53813	2.355000	0.79922	0.650000	0.86243	GTA		PASS	0.592	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		3	17	3	17	---	---	---	---
OR2T1	26696	broad.mit.edu	37	1	248570209	248570209	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr1:248570209C>A	ENST00000366474.1	+	1	914	c.914C>A	c.(913-915)gCc>gAc	p.A305D		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A305D(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TACGGGGCTGCCATGTACACC	0.527																																						uc010pzm.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(913-915)GCC>GAC		olfactory receptor, family 2, subfamily T,							211.0	178.0	189.0					1																	248570209		2203	4300	6503	SO:0001583	missense	26696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248570209C>A	U86215	CCDS31115.1	1q44	2012-08-09			ENSG00000175143	ENSG00000175143		"""GPCR / Class A : Olfactory receptors"""	8277	protein-coding gene	gene with protein product						9500546	Standard	NM_030904		Approved	OR1-25	uc010pzm.2	O43869	OTTHUMG00000040450	ENST00000366474.1:c.914C>A	1.37:g.248570209C>A	ENSP00000355430:p.Ala305Asp						p.A305D	NM_030904	NP_112166	O43869	OR2T1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	914	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		305			Helical; Name=6; (Potential).		Q6IEZ9	Missense_Mutation	SNP	ENST00000366474.1	37	c.914C>A	CCDS31115.1	.	.	.	.	.	.	.	.	.	.	c	16.57	3.159298	0.57368	.	.	ENSG00000175143	ENST00000366474	T	0.00193	8.58	4.67	3.73	0.42828	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36591	U	0.002507	T	0.00666	0.0022	M	0.93375	3.41	0.09310	N	1	D	0.76494	0.999	D	0.81914	0.995	T	0.21690	-1.0238	10	0.72032	D	0.01	.	8.7846	0.34811	0.0:0.822:0.0:0.178	.	305	O43869	OR2T1_HUMAN	D	305	ENSP00000355430:A305D	ENSP00000355430:A305D	A	+	2	0	OR2T1	246636832	0.000000	0.05858	0.980000	0.43619	0.985000	0.73830	-1.061000	0.03472	2.410000	0.81850	0.655000	0.94253	GCC		PASS	0.527	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097346.2			84	139	84	139	---	---	---	---
IFT172	26160	broad.mit.edu	37	2	27676897	27676897	+	Silent	SNP	C	C	T			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr2:27676897C>T	ENST00000260570.3	-	33	3766	c.3663G>A	c.(3661-3663)ggG>ggA	p.G1221G		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	1221					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)		p.G1221G(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					GGAGCAGCAGCCCTTCTGCTT	0.622																																						uc002rku.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(3661-3663)GGG>GGA		selective LIM binding factor homolog							55.0	64.0	61.0					2																	27676897		2203	4298	6501	SO:0001819	synonymous_variant	26160				cilium assembly	cilium	binding	g.chr2:27676897C>T	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.3663G>A	2.37:g.27676897C>T						IFT172_uc010ezb.2_RNA	p.G1221G	NM_015662	NP_056477	Q9UG01	IF172_HUMAN			33	3714	-	Acute lymphoblastic leukemia(172;0.155)		1221					A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Silent	SNP	ENST00000260570.3	37	c.3663G>A	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	C	9.995	1.231881	0.22626	.	.	ENSG00000138002	ENST00000443889	.	.	.	5.7	1.59	0.23543	.	.	.	.	.	T	0.42086	0.1187	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23762	-1.0179	4	.	.	.	-9.7084	0.7602	0.01006	0.2614:0.3642:0.1277:0.2467	.	.	.	.	T	90	.	.	A	-	1	0	IFT172	27530401	0.975000	0.34042	0.997000	0.53966	0.991000	0.79684	0.040000	0.13905	0.003000	0.14656	0.462000	0.41574	GCT		PASS	0.622	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		49	247	49	247	---	---	---	---
NLRC4	58484	broad.mit.edu	37	2	32466102	32466102	+	Splice_Site	SNP	C	C	G			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr2:32466102C>G	ENST00000404025.2	-	6	2838	c.2350G>C	c.(2350-2352)Gct>Cct	p.A784P	NLRC4_ENST00000402280.1_Splice_Site_p.A784P|NLRC4_ENST00000342905.6_Splice_Site_p.A119P|NLRC4_ENST00000360906.5_Splice_Site_p.A784P			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	784					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)	p.A784P(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GAAATCTGACCTAGTTTTATA	0.378																																						uc002roi.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|lung(1)|skin(1)	6						c.(2350-2352)GCT>CCT		caspase recruitment domain protein 12							206.0	196.0	199.0					2																	32466102		2203	4300	6503	SO:0001630	splice_region_variant	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32466102C>G	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.2350+1G>C	2.37:g.32466102C>G						NLRC4_uc002roj.1_Missense_Mutation_p.A784P|NLRC4_uc010ezt.1_Missense_Mutation_p.A119P	p.A784P	NM_021209	NP_067032	Q9NPP4	NLRC4_HUMAN			5	2596	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		784			LRR 6.		A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	ENST00000404025.2	37	c.2350G>C	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.849403	0.51270	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000342905;ENST00000404025	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	3.6	3.6	0.41247	.	0.647891	0.12748	N	0.442453	T	0.62036	0.2395	L	0.47716	1.5	0.29694	N	0.840714	D;D	0.61080	0.989;0.98	P;P	0.58928	0.848;0.622	T	0.67753	-0.5589	8	.	.	.	-6.4275	15.1733	0.72891	0.0:1.0:0.0:0.0	.	119;784	Q9NPP4-2;Q9NPP4	.;NLRC4_HUMAN	P	784;784;119;784	ENSP00000354159:A784P;ENSP00000385428:A784P;ENSP00000339666:A119P;ENSP00000385090:A784P	.	A	-	1	0	NLRC4	32319606	1.000000	0.71417	0.927000	0.36925	0.330000	0.28571	3.446000	0.52928	2.306000	0.77630	0.467000	0.42956	GCT		PASS	0.378	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209	Missense_Mutation	38	64	38	64	---	---	---	---
MTA3	57504	broad.mit.edu	37	2	42871290	42871290	+	Silent	SNP	C	C	G			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr2:42871290C>G	ENST00000405094.1	+	6	405	c.405C>G	c.(403-405)gtC>gtG	p.V135V	MTA3_ENST00000406911.1_Silent_p.V135V|MTA3_ENST00000406652.1_Silent_p.V79V|MTA3_ENST00000405592.1_Silent_p.V79V|MTA3_ENST00000407270.3_Silent_p.V135V			Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	135	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.					intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.V135V(1)		endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						ACTCATTGGTCTATGACCCCT	0.353																																						uc002rso.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(235-237)GTC>GTG		metastasis associated 1 family, member 3							129.0	117.0	121.0					2																	42871290		1829	4088	5917	SO:0001819	synonymous_variant	57504					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:42871290C>G	AB033092	CCDS46267.1, CCDS62900.1	2p22.1	2013-01-25	2004-12-15		ENSG00000057935	ENSG00000057935		"""GATA zinc finger domain containing"""	23784	protein-coding gene	gene with protein product		609050	"""metastasis associated gene family, member 3"""			12705869, 14613024	Standard	NM_001282755		Approved	KIAA1266	uc002rsq.3	Q9BTC8	OTTHUMG00000150452	ENST00000405094.1:c.405C>G	2.37:g.42871290C>G						MTA3_uc002rsp.1_Silent_p.V79V|MTA3_uc002rsq.2_Silent_p.V135V|MTA3_uc002rsr.2_Silent_p.V135V	p.V79V	NM_020744	NP_065795	Q9BTC8	MTA3_HUMAN			7	907	+			135			BAH.		Q9NSP2|Q9ULF4	Silent	SNP	ENST00000405094.1	37	c.237C>G																																																																																					PASS	0.353	MTA3-017	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000318159.1	NM_020744		10	103	10	103	---	---	---	---
CLEC4F	165530	broad.mit.edu	37	2	71043700	71043700	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr2:71043700G>T	ENST00000272367.2	-	4	889	c.813C>A	c.(811-813)aaC>aaA	p.N271K	CLEC4F_ENST00000426626.1_Missense_Mutation_p.N271K	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	271					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.N271K(1)		endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						TTAAAACCTGGTTCTGGGTCC	0.438																																					Colon(107;10 2157 6841 26035)	uc002shf.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(811-813)AAC>AAA		C-type lectin, superfamily member 13							75.0	77.0	76.0					2																	71043700		2202	4297	6499	SO:0001583	missense	165530				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr2:71043700G>T	AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"""C-type lectin domain containing"""	25357	protein-coding gene	gene with protein product			"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"""	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.813C>A	2.37:g.71043700G>T	ENSP00000272367:p.Asn271Lys					CLEC4F_uc010yqv.1_Missense_Mutation_p.N271K	p.N271K	NM_173535	NP_775806	Q8N1N0	CLC4F_HUMAN			4	890	-			271			Extracellular (Potential).		A4QPA5	Missense_Mutation	SNP	ENST00000272367.2	37	c.813C>A	CCDS1910.1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.811587	0.32053	.	.	ENSG00000152672	ENST00000272367;ENST00000426626	T;T	0.45276	0.9;0.9	4.04	-0.478	0.12093	.	1.202440	0.06359	N	0.711258	T	0.32133	0.0819	L	0.51422	1.61	0.09310	N	1	B;B	0.26400	0.148;0.148	B;B	0.17433	0.012;0.018	T	0.19582	-1.0301	10	0.29301	T	0.29	.	4.2932	0.10888	0.3081:0.1894:0.5025:0.0	.	271;271	B7ZMM1;Q8N1N0	.;CLC4F_HUMAN	K	271	ENSP00000272367:N271K;ENSP00000390581:N271K	ENSP00000272367:N271K	N	-	3	2	CLEC4F	70897208	0.000000	0.05858	0.010000	0.14722	0.731000	0.41821	-1.679000	0.01940	-0.212000	0.10109	0.313000	0.20887	AAC		PASS	0.438	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251922.1	NM_173535		77	225	77	225	---	---	---	---
REG1B	5968	broad.mit.edu	37	2	79313613	79313613	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr2:79313613C>A	ENST00000305089.3	-	4	281	c.201G>T	c.(199-201)atG>atT	p.M67I		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	67	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell proliferation (GO:0008283)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)	p.M67I(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						TGCCTGAATTCATGTTCTGGC	0.498																																						uc002sny.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)|skin(1)	2						c.(199-201)ATG>ATT		regenerating islet-derived 1 beta precursor							118.0	110.0	113.0					2																	79313613		2203	4300	6503	SO:0001583	missense	5968				cell proliferation	extracellular region	sugar binding	g.chr2:79313613C>A		CCDS1963.1	2p12	2008-06-04	2008-06-04		ENSG00000172023	ENSG00000172023			9952	protein-coding gene	gene with protein product	"""lithostathine 1 beta"", ""secretory pancreatic stone protein 2"""	167771	"""regenerating islet-derived 1 beta (pancreatic stone protein, pancreatic thread protein)"""			8110835	Standard	NM_006507		Approved	REGL, PSPS2, REGH, REGI-BETA	uc002sny.2	P48304	OTTHUMG00000130019	ENST00000305089.3:c.201G>T	2.37:g.79313613C>A	ENSP00000303206:p.Met67Ile					REG1B_uc010ffv.1_Missense_Mutation_p.M67I|REG1B_uc010ffw.2_3'UTR	p.M67I	NM_006507	NP_006498	P48304	REG1B_HUMAN			4	313	-			67			C-type lectin.			Missense_Mutation	SNP	ENST00000305089.3	37	c.201G>T	CCDS1963.1	.	.	.	.	.	.	.	.	.	.	c	13.08	2.131121	0.37630	.	.	ENSG00000172023	ENST00000454188;ENST00000305089	T;T	0.07800	3.16;3.16	3.51	0.355	0.16069	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.196337	0.24876	N	0.034897	T	0.04952	0.0133	L	0.35487	1.065	0.09310	N	1	B;B	0.14805	0.011;0.011	B;B	0.10450	0.005;0.005	T	0.37314	-0.9711	10	0.23302	T	0.38	.	3.3409	0.07118	0.0:0.5171:0.221:0.2619	.	67;67	Q6ICS1;P48304	.;REG1B_HUMAN	I	18;67	ENSP00000387410:M18I;ENSP00000303206:M67I	ENSP00000303206:M67I	M	-	3	0	REG1B	79167121	0.000000	0.05858	0.017000	0.16124	0.977000	0.68977	-0.215000	0.09279	0.295000	0.22570	0.491000	0.48974	ATG		PASS	0.498	REG1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252292.2	NM_006507		50	101	50	101	---	---	---	---
TBC1D8	11138	broad.mit.edu	37	2	101646111	101646111	+	Silent	SNP	G	G	A	rs370147366		TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr2:101646111G>A	ENST00000376840.4	-	12	2018	c.2019C>T	c.(2017-2019)ctC>ctT	p.L673L	TBC1D8_ENST00000409318.1_Silent_p.L688L			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	673	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.L673L(1)|p.L688L(1)		breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						GCATGATGCTGAGGAACAGGG	0.557																																						uc010fiv.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)	3						c.(2017-2019)CTC>CTT		TBC1 domain family, member 8		G		1,4235		0,1,2117	88.0	94.0	92.0		2019	3.8	1.0	2		92	0,8498		0,0,4249	no	coding-synonymous	TBC1D8	NM_001102426.1		0,1,6366	AA,AG,GG		0.0,0.0236,0.0079		673/1141	101646111	1,12733	2118	4249	6367	SO:0001819	synonymous_variant	11138				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity	g.chr2:101646111G>A	AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634			17791	protein-coding gene	gene with protein product	"""BUB2-like protein 1"", ""vascular Rab-GAP/TBC-containing protein"""					10373574	Standard	NM_001102426		Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000376840.4:c.2019C>T	2.37:g.101646111G>A						TBC1D8_uc002tau.3_Silent_p.L430L	p.L673L	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN			12	2150	-			673			Rab-GAP TBC.		A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Silent	SNP	ENST00000376840.4	37	c.2019C>T	CCDS46375.1																																																																																				PASS	0.557	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376092.1	NM_007063		7	94	7	94	---	---	---	---
RANBP2	5903	broad.mit.edu	37	2	109380809	109380809	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr2:109380809G>A	ENST00000283195.6	+	20	3940	c.3814G>A	c.(3814-3816)Gca>Aca	p.A1272T		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1272	RanBD1 1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.A1272T(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CCTTGATTATGCAGATGAGTT	0.383																																						uc002tem.3																		RANBP2/ALK(16)	2	Substitution - Missense(2)		lung(2)	soft_tissue(16)|lung(1)|pancreas(1)	18						c.(3814-3816)GCA>ACA		RAN binding protein 2							76.0	78.0	77.0					2																	109380809		2203	4299	6502	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109380809G>A	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.3814G>A	2.37:g.109380809G>A	ENSP00000283195:p.Ala1272Thr						p.A1272T	NM_006267	NP_006258	P49792	RBP2_HUMAN			20	3940	+			1272			RanBD1 1.		Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.3814G>A	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.744541	0.89663	.	.	ENSG00000153201	ENST00000283195	T	0.52295	0.67	5.26	5.26	0.73747	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.68879	0.3049	M	0.66297	2.02	0.53688	D	0.999976	D	0.89917	1.0	D	0.91635	0.999	T	0.72144	-0.4379	9	0.87932	D	0	-23.4631	18.8675	0.92298	0.0:0.0:1.0:0.0	.	1272	P49792	RBP2_HUMAN	T	1272	ENSP00000283195:A1272T	ENSP00000283195:A1272T	A	+	1	0	RANBP2	108747241	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.864000	0.99589	2.430000	0.82344	0.650000	0.86243	GCA		PASS	0.383	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		60	226	60	226	---	---	---	---
MAP3K19	80122	broad.mit.edu	37	2	135744425	135744425	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr2:135744425G>A	ENST00000375845.3	-	7	2047	c.2017C>T	c.(2017-2019)Cat>Tat	p.H673Y	MAP3K19_ENST00000392915.1_Missense_Mutation_p.H690Y|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.H560Y|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392918.3_Intron	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	673							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.H673Y(1)|p.H25Y(1)									TCTCGCACATGACAATAAACA	0.393																																						uc002tue.1																			2	Substitution - Missense(2)		lung(2)	stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5						c.(2017-2019)CAT>TAT		Yeast Sps1/Ste20-related kinase 4 isoform 1							159.0	152.0	155.0					2																	135744425		2203	4300	6503	SO:0001583	missense	80122						ATP binding|protein serine/threonine kinase activity	g.chr2:135744425G>A	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.2017C>T	2.37:g.135744425G>A	ENSP00000365005:p.His673Tyr					YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.H560Y|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_Missense_Mutation_p.H401Y|YSK4_uc002tui.3_Missense_Mutation_p.H690Y	p.H673Y	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	7	2048	-			673					B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.2017C>T	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	G	9.764	1.170761	0.21621	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915;ENST00000437365	T;T;T;T	0.72505	-0.57;-0.54;1.77;-0.66	5.67	4.79	0.61399	.	0.000000	0.53938	D	0.000051	T	0.77961	0.4209	L	0.47190	1.495	0.80722	D	1	D;D;D	0.67145	0.993;0.996;0.989	P;P;P	0.61070	0.801;0.883;0.688	T	0.80674	-0.1277	10	0.87932	D	0	.	16.0578	0.80817	0.0:0.0:0.8648:0.1352	.	560;690;673	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	Y	673;560;690;63	ENSP00000365005:H673Y;ENSP00000351140:H560Y;ENSP00000376647:H690Y;ENSP00000392827:H63Y	ENSP00000351140:H560Y	H	-	1	0	YSK4	135460895	1.000000	0.71417	0.976000	0.42696	0.563000	0.35712	2.902000	0.48703	1.368000	0.46115	0.561000	0.74099	CAT		PASS	0.393	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		52	348	52	348	---	---	---	---
LCT	3938	broad.mit.edu	37	2	136566354	136566354	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr2:136566354C>A	ENST00000264162.2	-	8	3573	c.3563G>T	c.(3562-3564)aGc>aTc	p.S1188I	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1188	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)	p.S1188I(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	CTCAGTGAAGCTTGGCAGGCG	0.537																																						uc002tuu.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13						c.(3562-3564)AGC>ATC		lactase-phlorizin hydrolase preproprotein							153.0	131.0	138.0					2																	136566354		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136566354C>A	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.3563G>T	2.37:g.136566354C>A	ENSP00000264162:p.Ser1188Ile						p.S1188I	NM_002299	NP_002290	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	8	3574	-			1188			3.|Extracellular (Potential).|4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.3563G>T	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	C	10.50	1.366563	0.24771	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.33865	1.39	5.49	3.65	0.41850	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.659730	0.17727	N	0.164021	T	0.39436	0.1078	L	0.54323	1.7	0.23492	N	0.997565	P	0.49783	0.928	P	0.47470	0.548	T	0.17048	-1.0382	10	0.49607	T	0.09	-22.2163	10.4364	0.44439	0.1733:0.6018:0.2249:0.0	.	1188	P09848	LPH_HUMAN	I	1188;620	ENSP00000264162:S1188I	ENSP00000264162:S1188I	S	-	2	0	LCT	136282824	0.965000	0.33210	0.873000	0.34254	0.926000	0.56050	1.580000	0.36547	0.635000	0.30488	0.563000	0.77884	AGC		PASS	0.537	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		59	155	59	155	---	---	---	---
SPOPL	339745	broad.mit.edu	37	2	139316664	139316664	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr2:139316664C>G	ENST00000280098.4	+	6	932	c.553C>G	c.(553-555)Cgt>Ggt	p.R185G		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	185					negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)		p.R185G(1)		breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		GCCTGAGTGTCGTCTAGCAGA	0.373																																						uc002tvh.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|breast(1)	3						c.(553-555)CGT>GGT		speckle-type POZ protein-like							99.0	107.0	104.0					2																	139316664		2203	4300	6503	SO:0001583	missense	339745					nucleus		g.chr2:139316664C>G		CCDS33298.1	2q22.1	2013-01-09			ENSG00000144228	ENSG00000144228		"""BTB/POZ domain containing"""	27934	protein-coding gene	gene with protein product	"""HIB homolog 2"", ""roadkill homolog 2"""						Standard	NM_001001664		Approved	BTBD33	uc002tvh.3	Q6IQ16	OTTHUMG00000153635	ENST00000280098.4:c.553C>G	2.37:g.139316664C>G	ENSP00000280098:p.Arg185Gly						p.R185G	NM_001001664	NP_001001664	Q6IQ16	SPOPL_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0296)	6	953	+			185						Missense_Mutation	SNP	ENST00000280098.4	37	c.553C>G	CCDS33298.1	.	.	.	.	.	.	.	.	.	.	C	13.28	2.190442	0.38707	.	.	ENSG00000144228	ENST00000280098	T	0.70869	-0.52	5.12	5.12	0.69794	BTB/POZ fold (2);	0.061516	0.64402	D	0.000002	T	0.67571	0.2907	M	0.68593	2.085	0.80722	D	1	B	0.33857	0.429	B	0.23419	0.046	T	0.67597	-0.5630	9	.	.	.	-25.3795	18.9132	0.92494	0.0:1.0:0.0:0.0	.	185	Q6IQ16	SPOPL_HUMAN	G	185	ENSP00000280098:R185G	.	R	+	1	0	SPOPL	139033134	1.000000	0.71417	1.000000	0.80357	0.153000	0.21895	6.027000	0.70881	2.532000	0.85374	0.591000	0.81541	CGT		PASS	0.373	SPOPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331897.1			6	200	6	200	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168105153	168105153	+	Silent	SNP	T	T	A			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr2:168105153T>A	ENST00000409195.1	+	9	7340	c.7251T>A	c.(7249-7251)ggT>ggA	p.G2417G	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Silent_p.G2195G|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Silent_p.G2417G|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2242					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.G2417G(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAAAAACCGGTGTGTTGCCAC	0.438																																						uc002udx.2																			1	Substitution - coding silent(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(7249-7251)GGT>GGA		xin actin-binding repeat containing 2 isoform 1							74.0	76.0	76.0					2																	168105153		1851	4089	5940	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168105153T>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.7251T>A	2.37:g.168105153T>A						XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.G2242G|XIRP2_uc010fpq.2_Silent_p.G2195G|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron	p.G2417G	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	7269	+			2242					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	c.7251T>A	CCDS42769.1																																																																																				PASS	0.438	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		48	121	48	121	---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170029730	170029730	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr2:170029730G>T	ENST00000263816.3	-	57	11304	c.11019C>A	c.(11017-11019)agC>agA	p.S3673R		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3673	LDL-receptor class A 29. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.S3673R(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	GATGGGCAGAGCTCACTGAAA	0.468																																						uc002ues.2																			1	Substitution - Missense(1)		lung(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(11017-11019)AGC>AGA		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						78.0	77.0	78.0					2																	170029730		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170029730G>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.11019C>A	2.37:g.170029730G>T	ENSP00000263816:p.Ser3673Arg						p.S3673R	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	57	11232	-			3673			LDL-receptor class A 29.|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.11019C>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	9.196	1.027303	0.19512	.	.	ENSG00000081479	ENST00000263816;ENST00000536293	D	0.89939	-2.59	5.86	-2.86	0.05717	.	0.329680	0.34268	N	0.004102	T	0.70482	0.3229	L	0.27053	0.805	0.46298	D	0.998972	P	0.36465	0.554	B	0.27608	0.081	T	0.58803	-0.7572	10	0.15952	T	0.53	.	3.6033	0.08032	0.1191:0.2025:0.4108:0.2676	.	3673	P98164	LRP2_HUMAN	R	3673;368	ENSP00000263816:S3673R	ENSP00000263816:S3673R	S	-	3	2	LRP2	169737976	0.000000	0.05858	0.001000	0.08648	0.748000	0.42578	-1.870000	0.01641	-0.444000	0.07170	0.655000	0.94253	AGC		PASS	0.468	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		10	46	10	46	---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170042283	170042283	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr2:170042283C>T	ENST00000263816.3	-	50	9860	c.9575G>A	c.(9574-9576)cGg>cAg	p.R3192Q		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3192	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.R3192Q(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	ACTGTTTTGCCGGCAGGTCTT	0.428																																						uc002ues.2																			1	Substitution - Missense(1)		lung(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(9574-9576)CGG>CAG		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						153.0	159.0	157.0					2																	170042283		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170042283C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.9575G>A	2.37:g.170042283C>T	ENSP00000263816:p.Arg3192Gln						p.R3192Q	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	50	9788	-			3192			EGF-like 12; calcium-binding (Potential).|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.9575G>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	36	5.633476	0.96682	.	.	ENSG00000081479	ENST00000263816	D	0.81579	-1.51	5.97	5.97	0.96955	Growth factor, receptor (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.82351	0.5018	N	0.11131	0.1	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.85547	0.1219	10	0.72032	D	0.01	.	20.4388	0.99107	0.0:1.0:0.0:0.0	.	3192	P98164	LRP2_HUMAN	Q	3192	ENSP00000263816:R3192Q	ENSP00000263816:R3192Q	R	-	2	0	LRP2	169750529	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.818000	0.86416	2.836000	0.97738	0.655000	0.94253	CGG		PASS	0.428	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		82	225	82	225	---	---	---	---
CCDC141	285025	broad.mit.edu	37	2	179736969	179736969	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr2:179736969T>C	ENST00000420890.2	-	13	2087	c.1970A>G	c.(1969-1971)aAa>aGa	p.K657R	CCDC141_ENST00000295723.5_Missense_Mutation_p.K82R	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	657								p.K82R(1)|p.K657R(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CCGTTCTGCTTTCTGGTTTTC	0.423																																						uc002unf.1																			2	Substitution - Missense(2)		lung(2)	ovary(7)|pancreas(2)|skin(1)	10						c.(244-246)AAA>AGA		coiled-coil domain containing 141							162.0	140.0	147.0					2																	179736969		2203	4300	6503	SO:0001583	missense	285025						protein binding	g.chr2:179736969T>C	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.1970A>G	2.37:g.179736969T>C	ENSP00000395995:p.Lys657Arg						p.K82R	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		3	302	-			82			Potential.		H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000420890.2	37	c.245A>G		.	.	.	.	.	.	.	.	.	.	T	3.750	-0.051829	0.07362	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723;ENST00000443758;ENST00000446116	T;T;T;T	0.47177	0.85;1.47;1.47;1.46	5.51	3.13	0.36017	.	0.367469	0.22825	N	0.055167	T	0.28200	0.0696	N	0.24115	0.695	0.09310	N	1	B	0.22909	0.077	B	0.21917	0.037	T	0.11324	-1.0592	10	0.27785	T	0.31	-12.2728	4.9594	0.14059	0.0:0.0959:0.1985:0.7056	.	82	Q6ZP82	CC141_HUMAN	R	657;101;82;657;592	ENSP00000395995:K657R;ENSP00000344627:K101R;ENSP00000295723:K82R;ENSP00000390190:K657R	ENSP00000295723:K82R	K	-	2	0	CCDC141	179445214	0.214000	0.23563	0.077000	0.20336	0.099000	0.18886	0.807000	0.27140	0.895000	0.36342	0.456000	0.33151	AAA		PASS	0.423	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		3	140	3	140	---	---	---	---
NIF3L1	60491	broad.mit.edu	37	2	201760025	201760025	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr2:201760025G>A	ENST00000409020.1	+	4	932	c.638G>A	c.(637-639)tGt>tAt	p.C213Y	NIF3L1_ENST00000359683.4_Missense_Mutation_p.C186Y|NIF3L1_ENST00000409357.1_Missense_Mutation_p.C213Y|NIF3L1_ENST00000416651.1_Missense_Mutation_p.C213Y|NIF3L1_ENST00000409588.1_Missense_Mutation_p.C213Y			Q9GZT8	GTPC1_HUMAN	NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)	213					7,8-dihydroneopterin 3'-triphosphate biosynthetic process (GO:0035998)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTP cyclohydrolase I activity (GO:0003934)|metal ion binding (GO:0046872)|transcription factor binding (GO:0008134)	p.C213Y(1)|p.C186Y(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						AATCTGAATTGTACTCAGAAG	0.373																																						uc002uwm.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(637-639)TGT>TAT		NIF3 NGG1 interacting factor 3-like 1 isoform 1							142.0	129.0	133.0					2																	201760025		1836	4089	5925	SO:0001583	missense	60491				positive regulation of transcription, DNA-dependent		transcription factor binding	g.chr2:201760025G>A	AB038949	CCDS42797.1, CCDS46485.1, CCDS46486.1	2q33	2011-11-10	2011-11-10		ENSG00000196290	ENSG00000196290			13390	protein-coding gene	gene with protein product		605778	"""NIF3 (Ngg1 interacting factor 3, S.pombe homolog)-like 1"", ""NIF3 NGG1 interacting factor 3-like 1 (S. pombe)"""	ALS2CR1		11124544, 11161814, 12522100	Standard	NM_001136039		Approved	CALS-7, MDS015	uc002uwm.2	Q9GZT8	OTTHUMG00000154588	ENST00000409020.1:c.638G>A	2.37:g.201760025G>A	ENSP00000386394:p.Cys213Tyr					NIF3L1_uc002uwl.2_Missense_Mutation_p.C186Y|NIF3L1_uc002uwn.2_Missense_Mutation_p.C186Y|NIF3L1_uc002uwo.2_Missense_Mutation_p.C213Y|NIF3L1_uc002uwp.2_Missense_Mutation_p.C213Y|NIF3L1_uc002uwq.2_Missense_Mutation_p.C213Y	p.C213Y	NM_001136039	NP_001129511	Q9GZT8	NIF3L_HUMAN			4	729	+			213					Q53TX4|Q6X735|Q9H2D2|Q9HC18	Missense_Mutation	SNP	ENST00000409020.1	37	c.638G>A	CCDS46485.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.265609	0.80358	.	.	ENSG00000196290	ENST00000426253;ENST00000416651;ENST00000409020;ENST00000359683;ENST00000409357;ENST00000374679;ENST00000409588	T;T;T;T;T;T	0.44083	0.93;0.97;0.97;0.97;0.97;0.93	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.64918	0.2642	M	0.79343	2.45	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.991	T	0.59413	-0.7459	10	0.19590	T	0.45	-13.6091	17.8591	0.88776	0.0:0.0:1.0:0.0	.	213;213	Q6X735;Q9GZT8	.;NIF3L_HUMAN	Y	186;213;213;186;213;213;213	ENSP00000412761:C186Y;ENSP00000400787:C213Y;ENSP00000386394:C213Y;ENSP00000352711:C186Y;ENSP00000387315:C213Y;ENSP00000387021:C213Y	ENSP00000352711:C186Y	C	+	2	0	NIF3L1	201468270	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	6.013000	0.70776	2.723000	0.93209	0.655000	0.94253	TGT		PASS	0.373	NIF3L1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336201.1	NM_021824		46	181	46	181	---	---	---	---
KCNE4	23704	broad.mit.edu	37	2	223917651	223917651	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr2:223917651G>A	ENST00000281830.3	+	2	587	c.256G>A	c.(256-258)Gag>Aag	p.E86K	KCNE4_ENST00000488477.2_Intron|KCNE4_ENST00000604125.1_Missense_Mutation_p.E35K			Q8WWG9	KCNE4_HUMAN	potassium voltage-gated channel, Isk-related family, member 4	86						apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	voltage-gated potassium channel activity (GO:0005249)	p.E35K(2)		large_intestine(2)|lung(5)|ovary(2)|skin(1)	10		Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175)		Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008)		CAATGGCAACGAGTACTTCTA	0.592																																						uc002vnl.3																			2	Substitution - Missense(2)		ovary(1)|lung(1)	ovary(1)	1						c.(103-105)GAG>AAG		potassium voltage-gated channel, Isk-related							87.0	70.0	76.0					2																	223917651		2203	4300	6503	SO:0001583	missense	23704					integral to membrane	voltage-gated potassium channel activity	g.chr2:223917651G>A	AY065987	CCDS2456.1, CCDS2456.2	2q36.1	2008-02-05			ENSG00000152049	ENSG00000152049		"""Potassium channels"""	6244	protein-coding gene	gene with protein product		607775				10219239, 12670483	Standard	NM_080671		Approved	MiRP3	uc002vnl.5	Q8WWG9	OTTHUMG00000133161	ENST00000281830.3:c.256G>A	2.37:g.223917651G>A	ENSP00000281830:p.Glu86Lys						p.E35K	NM_080671	NP_542402	Q8WWG9	KCNE4_HUMAN		Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008)	2	257	+		Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175)	35					B7Z275|Q53SM4|Q96CC4	Missense_Mutation	SNP	ENST00000281830.3	37	c.103G>A		.	.	.	.	.	.	.	.	.	.	G	34	5.320453	0.95682	.	.	ENSG00000152049	ENST00000281830	.	.	.	5.91	5.91	0.95273	.	0.052677	0.85682	D	0.000000	T	0.78723	0.4328	M	0.75264	2.295	0.53688	D	0.999973	D	0.71674	0.998	P	0.62184	0.899	T	0.77978	-0.2384	9	0.51188	T	0.08	0.2868	20.2985	0.98592	0.0:0.0:1.0:0.0	.	35	Q8WWG9	KCNE4_HUMAN	K	35	.	ENSP00000281830:E35K	E	+	1	0	KCNE4	223625895	1.000000	0.71417	0.948000	0.38648	0.754000	0.42855	9.434000	0.97515	2.793000	0.96121	0.655000	0.94253	GAG		PASS	0.592	KCNE4-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000330997.2	NM_080671		5	99	5	99	---	---	---	---
ECEL1	9427	broad.mit.edu	37	2	233344865	233344865	+	Nonstop_Mutation	SNP	A	A	G			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr2:233344865A>G	ENST00000304546.1	-	18	2536	c.2326T>C	c.(2326-2328)Tga>Cga	p.*776R	ECEL1_ENST00000409941.1_Nonstop_Mutation_p.*774R	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	0					neuropeptide signaling pathway (GO:0007218)|respiratory system process (GO:0003016)	integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)	p.*776R(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		AGCCAGGCTCACCACACGGAA	0.672																																						uc002vsv.2																			1	Nonstop extension(1)		lung(1)	central_nervous_system(2)	2						c.(2326-2328)TGA>CGA		endothelin converting enzyme-like 1							76.0	65.0	69.0					2																	233344865		2203	4300	6503	SO:0001578	stop_lost	9427				neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity	g.chr2:233344865A>G	Y16187	CCDS2493.1	2q37.1	2010-09-29			ENSG00000171551	ENSG00000171551			3147	protein-coding gene	gene with protein product	"""damage induced neuronal endopeptidase"""	605896				9931490, 11352565	Standard	NM_004826		Approved	XCE, DINE	uc002vsv.2	O95672	OTTHUMG00000133262	ENST00000304546.1:c.2326T>C	2.37:g.233344865A>G	ENSP00000302051:p.*776Glyext*78					ECEL1_uc010fya.1_Nonstop_Mutation_p.*774R|ECEL1_uc010fyb.1_Nonstop_Mutation_p.*483R	p.*776R	NM_004826	NP_004817	O95672	ECEL1_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)	18	2531	-		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	776					Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Nonstop_Mutation	SNP	ENST00000304546.1	37	c.2326T>C	CCDS2493.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.650996	0.87958	.	.	ENSG00000171551	ENST00000411860;ENST00000304546;ENST00000409941	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.26604	N	0.97296	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8904	0.70604	1.0:0.0:0.0:0.0	.	.	.	.	R	169;776;774	.	.	X	-	1	0	ECEL1	233053109	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	8.759000	0.91667	1.930000	0.55929	0.370000	0.22315	TGA		PASS	0.672	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257039.2	NM_004826		14	34	14	34	---	---	---	---
NDUFA10	4705	broad.mit.edu	37	2	240951107	240951107	+	Missense_Mutation	SNP	C	C	T	rs11541496		TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr2:240951107C>T	ENST00000252711.2	-	6	776	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K	NDUFA10_ENST00000307300.4_Missense_Mutation_p.E256K|NDUFA10_ENST00000404554.1_Missense_Mutation_p.E226K	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	226					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|nucleoside kinase activity (GO:0019206)	p.E226K(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)		ATCTTCATTTCATGTGGCTAA	0.403																																						uc002vyn.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(676-678)GAA>AAA		NADH dehydrogenase (ubiquinone) 1 alpha	NADH(DB00157)						125.0	117.0	120.0					2																	240951107		2203	4300	6503	SO:0001583	missense	4705				mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor	g.chr2:240951107C>T	AF087661	CCDS2531.1	2q37.3	2011-07-04	2002-08-29		ENSG00000130414	ENSG00000130414		"""Mitochondrial respiratory chain complex / Complex I"""	7684	protein-coding gene	gene with protein product	"""complex I 42kDa subunit"""	603835	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10 (42kD)"""			9878551	Standard	NM_004544		Approved	CI-42k	uc002vyn.3	O95299	OTTHUMG00000133350	ENST00000252711.2:c.676G>A	2.37:g.240951107C>T	ENSP00000252711:p.Glu226Lys					NDUFA10_uc010fzc.1_Missense_Mutation_p.E256K	p.E226K	NM_004544	NP_004535	O95299	NDUAA_HUMAN		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	6	756	-		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	226					Q8WXC9	Missense_Mutation	SNP	ENST00000252711.2	37	c.676G>A	CCDS2531.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.329624	0.60743	.	.	ENSG00000130414	ENST00000252711;ENST00000404554;ENST00000422018;ENST00000307300	D;D;D	0.97941	-4.62;-4.62;-4.62	4.37	4.37	0.52481	.	0.127988	0.52532	D	0.000077	D	0.98362	0.9456	M	0.76328	2.33	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.77004	0.97;0.989	D	0.98572	1.0646	9	.	.	.	-35.573	14.801	0.69916	0.0:1.0:0.0:0.0	.	256;226	Q8WXC9;O95299	.;NDUAA_HUMAN	K	226;226;226;256	ENSP00000252711:E226K;ENSP00000385697:E226K;ENSP00000302321:E256K	.	E	-	1	0	NDUFA10	240599780	0.977000	0.34250	0.487000	0.27428	0.751000	0.42716	2.957000	0.49137	2.171000	0.68590	0.655000	0.94253	GAA		PASS	0.403	NDUFA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257180.2	NM_004544		34	81	34	81	---	---	---	---
ZNF197	10168	broad.mit.edu	37	3	44685345	44685345	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr3:44685345G>A	ENST00000396058.1	+	5	2890	c.2723G>A	c.(2722-2724)gGa>gAa	p.G908E	ZNF197_ENST00000383745.2_Intron|ZNF197_ENST00000344387.4_Missense_Mutation_p.G908E|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383744.4_Intron			O14709	ZN197_HUMAN	zinc finger protein 197	908					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G908E(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		AATGAGTGTGGAAAAGACTTT	0.358																																						uc003cnm.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(2722-2724)GGA>GAA		zinc finger protein 197 isoform 1							75.0	84.0	81.0					3																	44685345		2203	4300	6503	SO:0001583	missense	10168				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44685345G>A	AF011573	CCDS2717.1, CCDS33743.1	3p21	2013-01-09	2003-10-07		ENSG00000186448	ENSG00000186448		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12988	protein-coding gene	gene with protein product			"""zinc finger protein 166"""	ZNF166		9380504, 8353497	Standard	XM_005264783		Approved	P18, D3S1363E, ZKSCAN9, ZSCAN41	uc003cnm.3	O14709	OTTHUMG00000133089	ENST00000396058.1:c.2723G>A	3.37:g.44685345G>A	ENSP00000379370:p.Gly908Glu					ZNF197_uc003cnn.2_Intron|ZNF197_uc003cno.2_Intron|ZNF197_uc003cnp.2_Intron	p.G908E	NM_006991	NP_008922	O14709	ZN197_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)	6	2929	+			908			C2H2-type 20.		B2RAH8|Q86VG0	Missense_Mutation	SNP	ENST00000396058.1	37	c.2723G>A	CCDS2717.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.599770	0.46318	.	.	ENSG00000186448	ENST00000344387;ENST00000396058	T;T	0.01221	5.15;5.15	3.51	2.61	0.31194	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.32015	U	0.006701	T	0.05410	0.0143	L	0.58925	1.835	0.36218	D	0.851796	D	0.67145	0.996	D	0.70487	0.969	T	0.32079	-0.9920	10	0.66056	D	0.02	.	11.0352	0.47797	0.0986:0.0:0.9014:0.0	.	908	O14709	ZN197_HUMAN	E	908	ENSP00000345809:G908E;ENSP00000379370:G908E	ENSP00000345809:G908E	G	+	2	0	ZNF197	44660349	0.999000	0.42202	0.998000	0.56505	0.997000	0.91878	2.683000	0.46943	1.016000	0.39470	0.557000	0.71058	GGA		PASS	0.358	ZNF197-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256747.4	NM_006991		66	144	66	144	---	---	---	---
KIF9	64147	broad.mit.edu	37	3	47316965	47316965	+	Silent	SNP	A	A	G			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr3:47316965A>G	ENST00000265529.3	-	4	789	c.109T>C	c.(109-111)Tta>Cta	p.L37L	KIF9_ENST00000425452.1_Silent_p.L51L|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000352910.4_5'UTR|KIF9_ENST00000444589.2_Silent_p.L37L|KIF9_ENST00000425853.1_Silent_p.L37L|KIF9_ENST00000335044.2_Silent_p.L37L|KIF9_ENST00000432493.1_Silent_p.L37L|KIF9_ENST00000452770.2_Silent_p.L37L			Q9HAQ2	KIF9_HUMAN	kinesin family member 9	37	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle disassembly (GO:1903008)|regulation of podosome assembly (GO:0071801)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|podosome (GO:0002102)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein dimerization activity (GO:0046983)	p.L37L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TCTTTTTTTAAGTGAATATCA	0.363																																					Colon(44;962 1147 15977 24541)	uc010hjp.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(109-111)TTA>CTA		kinesin family member 9 isoform 2							95.0	92.0	93.0					3																	47316965		2203	4300	6503	SO:0001819	synonymous_variant	64147				blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr3:47316965A>G	AF311212	CCDS2751.1, CCDS2752.1	3p21.31	2008-03-03			ENSG00000088727	ENSG00000088727		"""Kinesins"""	16666	protein-coding gene	gene with protein product		607910				11483511	Standard	NM_022342		Approved	MGC104186	uc003cqx.3	Q9HAQ2	OTTHUMG00000133512	ENST00000265529.3:c.109T>C	3.37:g.47316965A>G						KIF9_uc003cqx.2_Silent_p.L37L|KIF9_uc003cqy.2_Silent_p.L37L|KIF9_uc011bat.1_RNA|KIF9_uc011bau.1_RNA|KIF9_uc003cra.3_RNA	p.L37L	NM_001134878	NP_001128350	Q9HAQ2	KIF9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	4	713	-		Acute lymphoblastic leukemia(5;0.164)	37			Kinesin-motor.		Q86Z28|Q9H8A4	Silent	SNP	ENST00000265529.3	37	c.109T>C	CCDS2752.1																																																																																				PASS	0.363	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257475.2			16	85	16	85	---	---	---	---
DNAH1	25981	broad.mit.edu	37	3	52366376	52366376	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr3:52366376G>T	ENST00000420323.2	+	8	1513	c.1252G>T	c.(1252-1254)Gcc>Tcc	p.A418S		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	418	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.A418S(2)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAAGCAGTGGGCCCTGAGCAC	0.582																																						uc011bef.1																			2	Substitution - Missense(2)		lung(2)	large_intestine(3)	3						c.(1252-1254)GCC>TCC		dynein, axonemal, heavy chain 1							65.0	70.0	68.0					3																	52366376		2126	4223	6349	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52366376G>T	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.1252G>T	3.37:g.52366376G>T	ENSP00000401514:p.Ala418Ser					DNAH1_uc003ddt.1_Missense_Mutation_p.A418S	p.A418S	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	8	1513	+			418			Stem (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.1252G>T	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.627293	0.46944	.	.	ENSG00000114841	ENST00000420323	T	0.24908	1.83	5.57	3.46	0.39613	.	0.266854	0.26620	N	0.023371	T	0.24122	0.0584	L	0.42245	1.32	0.39230	D	0.963663	B;B	0.29378	0.01;0.243	B;B	0.38985	0.013;0.287	T	0.07462	-1.0771	10	0.20519	T	0.43	.	8.7844	0.34811	0.1533:0.1277:0.719:0.0	.	418;418	C9JXH6;Q9P2D7-3	.;.	S	418	ENSP00000401514:A418S	ENSP00000401514:A418S	A	+	1	0	DNAH1	52341416	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	3.063000	0.49978	1.382000	0.46385	0.462000	0.41574	GCC		PASS	0.582	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		13	46	13	46	---	---	---	---
TIGIT	201633	broad.mit.edu	37	3	114026870	114026870	+	Silent	SNP	G	G	A			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr3:114026870G>A	ENST00000486257.1	+	5	884	c.627G>A	c.(625-627)ggG>ggA	p.G209G	TIGIT_ENST00000481065.1_Silent_p.G276G|TIGIT_ENST00000496848.1_3'UTR|TIGIT_ENST00000383671.3_Silent_p.G209G			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	209					negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|positive regulation of interleukin-10 production (GO:0032733)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.G209G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						CACCTGCTGGGCTCTGTGGAG	0.572																																						uc003ebg.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(625-627)GGG>GGA		T cell immunoreceptor with Ig and ITIM domains							103.0	100.0	101.0					3																	114026870		2203	4300	6503	SO:0001819	synonymous_variant	201633				negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding	g.chr3:114026870G>A	AK097192	CCDS2980.1	3q13.31	2013-01-11	2008-10-13	2008-10-13	ENSG00000181847	ENSG00000181847		"""Immunoglobulin superfamily / V-set domain containing"""	26838	protein-coding gene	gene with protein product		612859	"""V-set and immunoglobulin domain containing 9"", ""V-set and transmembrane domain containing 3"""	VSIG9, VSTM3		19011627	Standard	NM_173799		Approved	FLJ39873, DKFZp667A205	uc003ebg.2	Q495A1	OTTHUMG00000159331	ENST00000486257.1:c.627G>A	3.37:g.114026870G>A							p.G209G	NM_173799	NP_776160	Q495A1	TIGIT_HUMAN			4	661	+			209			Cytoplasmic (Potential).		Q495A3|Q5JPD8|Q6MZS2|Q8N877	Silent	SNP	ENST00000486257.1	37	c.627G>A	CCDS2980.1																																																																																				PASS	0.572	TIGIT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354690.1	NM_173799		50	267	50	267	---	---	---	---
PCOLCE2	26577	broad.mit.edu	37	3	142567068	142567068	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr3:142567068T>G	ENST00000295992.3	-	3	745	c.439A>C	c.(439-441)Aac>Cac	p.N147H	PCOLCE2_ENST00000485766.1_Missense_Mutation_p.N147H	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	147					positive regulation of peptidase activity (GO:0010952)	extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)	p.N147H(1)		NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						CCTCTTTCGTTTGGTTCAGCA	0.438																																						uc003evd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(439-441)AAC>CAC		procollagen C-endopeptidase enhancer 2							71.0	72.0	72.0					3																	142567068		2203	4300	6503	SO:0001583	missense	26577					extracellular region	collagen binding|heparin binding|peptidase activator activity	g.chr3:142567068T>G	AF098269	CCDS3127.1	3q21-q24	2008-07-18			ENSG00000163710	ENSG00000163710			8739	protein-coding gene	gene with protein product		607064				10873381	Standard	NM_013363		Approved	PCPE2	uc003evd.3	Q9UKZ9	OTTHUMG00000159312	ENST00000295992.3:c.439A>C	3.37:g.142567068T>G	ENSP00000295992:p.Asn147His						p.N147H	NM_013363	NP_037495	Q9UKZ9	PCOC2_HUMAN			3	635	-			147					B2RCH9|D3DNG4|Q9BRH3	Missense_Mutation	SNP	ENST00000295992.3	37	c.439A>C	CCDS3127.1	.	.	.	.	.	.	.	.	.	.	T	9.605	1.129650	0.21041	.	.	ENSG00000163710	ENST00000295992;ENST00000485766	T;T	0.22743	2.07;1.94	5.39	4.25	0.50352	.	0.207032	0.49305	D	0.000156	T	0.08802	0.0218	N	0.04724	-0.175	0.32746	N	0.507084	B	0.06786	0.001	B	0.06405	0.002	T	0.20009	-1.0288	10	0.15952	T	0.53	-16.814	7.5294	0.27674	0.0:0.0789:0.1831:0.738	.	147	Q9UKZ9	PCOC2_HUMAN	H	147	ENSP00000295992:N147H;ENSP00000419842:N147H	ENSP00000295992:N147H	N	-	1	0	PCOLCE2	144049758	1.000000	0.71417	0.915000	0.36163	0.841000	0.47740	3.197000	0.51028	1.086000	0.41228	0.524000	0.50904	AAC		PASS	0.438	PCOLCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354509.1	NM_013363		109	62	109	62	---	---	---	---
PLCH1	23007	broad.mit.edu	37	3	155203221	155203221	+	Silent	SNP	G	G	A			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr3:155203221G>A	ENST00000340059.7	-	22	2921	c.2922C>T	c.(2920-2922)gaC>gaT	p.D974D	PLCH1_ENST00000460012.1_Silent_p.D936D|PLCH1_ENST00000334686.6_Silent_p.D936D|PLCH1_ENST00000494598.1_Silent_p.D954D|PLCH1_ENST00000447496.2_Silent_p.D974D|PLCH1_ENST00000414191.1_Silent_p.D936D|PLCH1-AS2_ENST00000472913.1_RNA	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	974					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.D974D(1)|p.D936D(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GAAGGTTTCTGTCAACAGGCA	0.468																																						uc011bok.1																			2	Substitution - coding silent(2)		lung(2)	skin(3)|ovary(1)	4						c.(2920-2922)GAC>GAT		phospholipase C eta 1 isoform a							127.0	124.0	125.0					3																	155203221		2203	4300	6503	SO:0001819	synonymous_variant	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155203221G>A	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.2922C>T	3.37:g.155203221G>A						PLCH1_uc011boj.1_Silent_p.D974D|PLCH1_uc011bol.1_Silent_p.D936D	p.D974D	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		22	3199	-			974					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Silent	SNP	ENST00000340059.7	37	c.2922C>T	CCDS46939.1																																																																																				PASS	0.468	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		47	263	47	263	---	---	---	---
SI	6476	broad.mit.edu	37	3	164786893	164786893	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr3:164786893C>A	ENST00000264382.3	-	4	408	c.346G>T	c.(346-348)Gtt>Ttt	p.V116F		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	116	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.V116F(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	ATGTCTTGAACGTTATAACCA	0.378										HNSCC(35;0.089)																												uc003fei.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(346-348)GTT>TTT		sucrase-isomaltase	Acarbose(DB00284)						65.0	64.0	64.0					3																	164786893		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164786893C>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.346G>T	3.37:g.164786893C>A	ENSP00000264382:p.Val116Phe	HNSCC(35;0.089)					p.V116F	NM_001041	NP_001032	P14410	SUIS_HUMAN			4	408	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	116			Lumenal.|Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.346G>T	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.965705	0.34659	.	.	ENSG00000090402	ENST00000264382	D	0.86694	-2.16	5.91	3.15	0.36227	Glycoside hydrolase-type carbohydrate-binding (1);P-type trefoil (1);	1.286440	0.05415	N	0.543125	D	0.87684	0.6239	M	0.80028	2.48	0.09310	N	1	B	0.17667	0.023	B	0.20767	0.031	T	0.70128	-0.4957	10	0.28530	T	0.3	.	8.9574	0.35827	0.0:0.7428:0.1239:0.1333	.	116	P14410	SUIS_HUMAN	F	116	ENSP00000264382:V116F	ENSP00000264382:V116F	V	-	1	0	SI	166269587	0.030000	0.19436	0.001000	0.08648	0.001000	0.01503	3.075000	0.50073	0.835000	0.34877	-0.165000	0.13383	GTT		PASS	0.378	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		69	61	69	61	---	---	---	---
SLITRK3	22865	broad.mit.edu	37	3	164907836	164907836	+	Missense_Mutation	SNP	A	A	C	rs200051003		TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr3:164907836A>C	ENST00000475390.1	-	2	1226	c.783T>G	c.(781-783)tgT>tgG	p.C261W	SLITRK3_ENST00000241274.3_Missense_Mutation_p.C261W			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	261	LRRCT 1.				axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.C261W(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						AAGGGGTCTCACAGGTAATGT	0.473										HNSCC(40;0.11)																												uc003fej.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)	10						c.(781-783)TGT>TGG		slit and trk like 3 protein precursor							127.0	130.0	129.0					3																	164907836		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164907836A>C	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.783T>G	3.37:g.164907836A>C	ENSP00000420091:p.Cys261Trp	HNSCC(40;0.11)				SLITRK3_uc003fek.2_Missense_Mutation_p.C261W	p.C261W	NM_014926	NP_055741	O94933	SLIK3_HUMAN			2	1227	-			261			LRRCT 1.|Extracellular (Potential).		Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.783T>G	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	A	13.83	2.353177	0.41700	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.57907	0.37;0.37	5.85	-1.89	0.07689	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.41097	D	0.000954	T	0.79094	0.4388	H	0.98256	4.185	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.83111	-0.0123	10	0.87932	D	0	-12.7566	12.4891	0.55889	0.5257:0.0:0.4743:0.0	.	261	O94933	SLIK3_HUMAN	W	261	ENSP00000420091:C261W;ENSP00000241274:C261W	ENSP00000241274:C261W	C	-	3	2	SLITRK3	166390530	0.216000	0.23585	0.993000	0.49108	0.945000	0.59286	-0.311000	0.08124	-0.313000	0.08728	0.533000	0.62120	TGT		PASS	0.473	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		6	447	6	447	---	---	---	---
MRPL47	57129	broad.mit.edu	37	3	179320569	179320569	+	Silent	SNP	A	A	G			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr3:179320569A>G	ENST00000476781.1	-	2	144	c.115T>C	c.(115-117)Ttg>Ctg	p.L39L	MRPL47_ENST00000259038.2_Intron|NDUFB5_ENST00000259037.3_5'Flank|NDUFB5_ENST00000493866.1_5'Flank|NDUFB5_ENST00000472629.1_5'Flank|MRPL47_ENST00000392659.2_Intron	NM_020409.2	NP_065142.2	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47	39					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)	p.L39L(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1)	11	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			CTCTTAGGCAACAAACTAAGA	0.289																																						uc003fjz.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(115-117)TTG>CTG		mitochondrial ribosomal protein L47 isoform a							98.0	106.0	103.0					3																	179320569		2203	4300	6503	SO:0001819	synonymous_variant	57129				translation	mitochondrial ribosome	structural constituent of ribosome	g.chr3:179320569A>G	AF285120	CCDS3232.1, CCDS3233.1	3q26.33	2012-11-14			ENSG00000136522	ENSG00000136522		"""Mitochondrial ribosomal proteins / large subunits"""	16652	protein-coding gene	gene with protein product	"""nasopharyngeal carcinoma metastasis-related 1"""	611852				11551941	Standard	NM_177988		Approved	CGI-204, NCM1	uc003fjz.3	Q9HD33	OTTHUMG00000157784	ENST00000476781.1:c.115T>C	3.37:g.179320569A>G						MRPL47_uc003fka.2_Intron|MRPL47_uc003fkb.2_Intron|NDUFB5_uc003fkc.2_5'Flank|NDUFB5_uc003fkd.2_5'Flank|NDUFB5_uc003fke.2_5'Flank	p.L39L	NM_020409	NP_065142	Q9HD33	RM47_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		2	137	-	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		39					Q6XRG1|Q8N5D1	Silent	SNP	ENST00000476781.1	37	c.115T>C	CCDS3232.1																																																																																				PASS	0.289	MRPL47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349623.1	NM_020409		24	321	24	321	---	---	---	---
GUCY1A3	2982	broad.mit.edu	37	4	156634686	156634686	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr4:156634686C>T	ENST00000296518.7	+	7	1732	c.1523C>T	c.(1522-1524)gCa>gTa	p.A508V	GUCY1A3_ENST00000506455.1_Missense_Mutation_p.A508V|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.A508V|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.A250V|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.A508V|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.A508V|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.A508V			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	508	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)	p.A508V(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		ATGCTCAATGCACTGTACACT	0.502																																						uc003iov.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(1522-1524)GCA>GTA		guanylate cyclase 1, soluble, alpha 3 isoform A							69.0	60.0	63.0					4																	156634686		2203	4300	6503	SO:0001583	missense	2982				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	g.chr4:156634686C>T		CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.1523C>T	4.37:g.156634686C>T	ENSP00000296518:p.Ala508Val					GUCY1A3_uc010iqc.2_Missense_Mutation_p.A508V|GUCY1A3_uc003iow.2_Missense_Mutation_p.A508V|GUCY1A3_uc010iqd.2_Missense_Mutation_p.A507V|GUCY1A3_uc003iox.2_Missense_Mutation_p.A508V|GUCY1A3_uc003ioz.2_Missense_Mutation_p.A273V|GUCY1A3_uc003ioy.2_Missense_Mutation_p.A508V|GUCY1A3_uc010iqe.2_Missense_Mutation_p.A273V|GUCY1A3_uc003ipa.2_Intron|GUCY1A3_uc003ipb.2_Missense_Mutation_p.A508V	p.A508V	NM_000856	NP_000847	Q02108	GCYA3_HUMAN		COAD - Colon adenocarcinoma(41;0.17)	8	2059	+	all_hematologic(180;0.24)	Renal(120;0.0854)	508			Guanylate cyclase.		D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	ENST00000296518.7	37	c.1523C>T	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.761787	0.49468	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000393832;ENST00000296518;ENST00000513574	D;D;D;D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52;-1.52;-1.52;-1.52	5.78	3.84	0.44239	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.091863	0.46442	D	0.000282	T	0.67970	0.2950	L	0.39566	1.225	0.45295	D	0.998298	P;P	0.40211	0.707;0.707	B;B	0.29440	0.102;0.102	T	0.68887	-0.5290	10	0.39692	T	0.17	.	12.1754	0.54182	0.5788:0.4212:0.0:0.0	.	508;508	B3KU69;Q02108	.;GCYA3_HUMAN	V	508;508;508;508;250;508;508	ENSP00000424361:A508V;ENSP00000421493:A508V;ENSP00000426968:A508V;ENSP00000412201:A508V;ENSP00000377418:A250V;ENSP00000296518:A508V;ENSP00000426040:A508V	ENSP00000296518:A508V	A	+	2	0	GUCY1A3	156854136	0.993000	0.37304	0.098000	0.21074	0.829000	0.46940	3.108000	0.50337	1.392000	0.46585	0.655000	0.94253	GCA		PASS	0.502	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2			27	47	27	47	---	---	---	---
HCN1	348980	broad.mit.edu	37	5	45262200	45262200	+	Missense_Mutation	SNP	C	C	G	rs267600644		TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr5:45262200C>G	ENST00000303230.4	-	8	2553	c.2496G>C	c.(2494-2496)agG>agC	p.R832S		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	832					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.R832S(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GGACAGTGCTCCTGCCCCCTG	0.677																																						uc003jok.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2494-2496)AGG>AGC		hyperpolarization activated cyclic							33.0	37.0	36.0					5																	45262200		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262200C>G	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2496G>C	5.37:g.45262200C>G	ENSP00000307342:p.Arg832Ser						p.R832S	NM_021072	NP_066550	O60741	HCN1_HUMAN			8	2521	-			832			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000303230.4	37	c.2496G>C	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	5.481	0.273726	0.10403	.	.	ENSG00000164588	ENST00000303230	D	0.97752	-4.52	5.02	5.02	0.67125	.	0.000000	0.64402	D	0.000006	D	0.92964	0.7761	L	0.34521	1.04	0.39780	D	0.972287	B	0.27498	0.18	B	0.19946	0.027	D	0.89008	0.3426	10	0.05721	T	0.95	.	10.2667	0.43460	0.0:0.7869:0.1376:0.0755	.	832	O60741	HCN1_HUMAN	S	832	ENSP00000307342:R832S	ENSP00000307342:R832S	R	-	3	2	HCN1	45297957	1.000000	0.71417	0.969000	0.41365	0.504000	0.33889	0.734000	0.26101	2.491000	0.84063	0.655000	0.94253	AGG		PASS	0.677	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		27	56	27	56	---	---	---	---
HCN1	348980	broad.mit.edu	37	5	45262826	45262826	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr5:45262826G>A	ENST00000303230.4	-	8	1927	c.1870C>T	c.(1870-1872)Cag>Tag	p.Q624*		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	624					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.Q624*(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TTCACAATCTGCTTGAGGATT	0.433																																						uc003jok.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1870-1872)CAG>TAG		hyperpolarization activated cyclic							136.0	117.0	123.0					5																	45262826		2203	4300	6503	SO:0001587	stop_gained	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262826G>A	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1870C>T	5.37:g.45262826G>A	ENSP00000307342:p.Gln624*						p.Q624*	NM_021072	NP_066550	O60741	HCN1_HUMAN			8	1895	-			624			Cytoplasmic (Potential).			Nonsense_Mutation	SNP	ENST00000303230.4	37	c.1870C>T	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.285187	0.80803	.	.	ENSG00000164588	ENST00000303230	.	.	.	6.16	5.3	0.74995	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	15.6102	0.76710	0.0654:0.0:0.9346:0.0	.	.	.	.	X	624	.	ENSP00000307342:Q624X	Q	-	1	0	HCN1	45298583	1.000000	0.71417	1.000000	0.80357	0.518000	0.34316	2.613000	0.46351	1.628000	0.50416	-0.145000	0.13849	CAG		PASS	0.433	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		20	162	20	162	---	---	---	---
PPIP5K2	23262	broad.mit.edu	37	5	102465368	102465368	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr5:102465368C>A	ENST00000358359.3	+	2	584	c.75C>A	c.(73-75)ttC>ttA	p.F25L	PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.F25L|PPIP5K2_ENST00000321521.9_Missense_Mutation_p.F25L	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	25					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)	p.F25L(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GACATTTCTTCCACCATGCAG	0.358																																						uc003kod.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(73-75)TTC>TTA		Histidine acid phosphatase domain containing 1							107.0	103.0	105.0					5																	102465368		2203	4300	6503	SO:0001583	missense	23262				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr5:102465368C>A	AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"""histidine acid phosphatase domain containing 1"""	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.75C>A	5.37:g.102465368C>A	ENSP00000351126:p.Phe25Leu					PPIP5K2_uc011cva.1_RNA|PPIP5K2_uc003koe.2_Missense_Mutation_p.F25L|PPIP5K2_uc010jbo.1_Intron	p.F25L	NM_015216	NP_056031	O43314	VIP2_HUMAN			2	594	+			25					A1NI53|A6NGS8|Q8TB50	Missense_Mutation	SNP	ENST00000358359.3	37	c.75C>A		.	.	.	.	.	.	.	.	.	.	C	11.50	1.656021	0.29425	.	.	ENSG00000145725	ENST00000515845;ENST00000321521;ENST00000358359;ENST00000451606;ENST00000414217	T;T;T	0.12672	2.66;2.66;2.66	5.66	3.5	0.40072	.	0.237667	0.37669	N	0.001997	T	0.05227	0.0139	N	0.11427	0.14	0.36746	D	0.882511	B;B	0.11235	0.004;0.002	B;B	0.08055	0.003;0.001	T	0.26395	-1.0104	10	0.08179	T	0.78	.	4.6837	0.12747	0.0:0.6489:0.0:0.3511	.	25;25	O43314-2;O43314	.;VIP2_HUMAN	L	25	ENSP00000313070:F25L;ENSP00000351126:F25L;ENSP00000416016:F25L	ENSP00000313070:F25L	F	+	3	2	PPIP5K2	102493267	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.795000	0.38784	1.522000	0.49001	0.650000	0.86243	TTC		PASS	0.358	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1	NM_015216		10	33	10	33	---	---	---	---
GRIA1	2890	broad.mit.edu	37	5	153056685	153056685	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr5:153056685G>C	ENST00000285900.5	+	7	1336	c.993G>C	c.(991-993)tgG>tgC	p.W331C	GRIA1_ENST00000448073.4_Missense_Mutation_p.W341C|GRIA1_ENST00000518783.1_Missense_Mutation_p.W341C|GRIA1_ENST00000521843.2_Missense_Mutation_p.W262C|GRIA1_ENST00000518142.1_Missense_Mutation_p.W251C|GRIA1_ENST00000340592.5_Missense_Mutation_p.W331C	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	331					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)	p.W331C(2)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	CTGTTCCCTGGGGCCAAGGGA	0.552																																						uc003lva.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)	6						c.(991-993)TGG>TGC		glutamate receptor, ionotropic, AMPA 1 isoform	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						52.0	50.0	51.0					5																	153056685		2203	4300	6503	SO:0001583	missense	2890				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153056685G>C		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.993G>C	5.37:g.153056685G>C	ENSP00000285900:p.Trp331Cys					GRIA1_uc003luy.3_Missense_Mutation_p.W331C|GRIA1_uc003luz.3_Missense_Mutation_p.W236C|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.W251C|GRIA1_uc011dcx.1_Missense_Mutation_p.W262C|GRIA1_uc011dcy.1_Missense_Mutation_p.W341C|GRIA1_uc011dcz.1_Missense_Mutation_p.W341C|GRIA1_uc010jia.1_Missense_Mutation_p.W311C	p.W331C	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		7	1358	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	331			Extracellular (Potential).		B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.993G>C	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.242428	0.79912	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	D;D;D;D;D;D;D	0.84660	-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88	5.56	5.56	0.83823	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.92596	0.7648	M	0.78456	2.415	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.997;0.997;0.998;0.997;0.995;0.999	D	0.93069	0.6481	10	0.72032	D	0.01	.	18.5007	0.90879	0.0:0.0:1.0:0.0	.	341;341;251;341;331;331	E7ESV8;B7Z9G9;B7Z3F6;B7Z2W8;P42261-2;P42261	.;.;.;.;.;GRIA1_HUMAN	C	331;331;251;285;331;262;262;341;341	ENSP00000285900:W331C;ENSP00000427920:W251C;ENSP00000339343:W331C;ENSP00000427864:W262C;ENSP00000442108:W262C;ENSP00000428994:W341C;ENSP00000415569:W341C	ENSP00000285900:W331C	W	+	3	0	GRIA1	153036878	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	9.506000	0.97992	2.595000	0.87683	0.655000	0.94253	TGG		PASS	0.552	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			9	34	9	34	---	---	---	---
GABRB2	2561	broad.mit.edu	37	5	160838029	160838029	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr5:160838029T>A	ENST00000393959.1	-	5	492	c.493A>T	c.(493-495)Agg>Tgg	p.R165W	GABRB2_ENST00000517901.1_Missense_Mutation_p.R102W|GABRB2_ENST00000520240.1_Missense_Mutation_p.R165W|GABRB2_ENST00000274547.2_Missense_Mutation_p.R165W|GABRB2_ENST00000353437.6_Missense_Mutation_p.R165W|GABRB2_ENST00000517547.1_Missense_Mutation_p.R5W			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	165					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)	p.R165W(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GGGTACCTCCTTAGGTCCATC	0.443																																						uc003lys.1																			2	Substitution - Missense(2)		lung(2)		0						c.(493-495)AGG>TGG		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						194.0	178.0	183.0					5																	160838029		2203	4300	6503	SO:0001583	missense	2561				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	g.chr5:160838029T>A		CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4082	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 2"""	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.493A>T	5.37:g.160838029T>A	ENSP00000377531:p.Arg165Trp					GABRB2_uc011deh.1_Missense_Mutation_p.R4W|GABRB2_uc003lyr.1_Missense_Mutation_p.R165W|GABRB2_uc003lyt.1_Missense_Mutation_p.R165W|GABRB2_uc010jiu.1_Missense_Mutation_p.R102W	p.R165W	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		6	711	-	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	165			Extracellular (Probable).		A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Missense_Mutation	SNP	ENST00000393959.1	37	c.493A>T	CCDS4355.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.300862	0.81136	.	.	ENSG00000145864	ENST00000393959;ENST00000274547;ENST00000353437;ENST00000520240;ENST00000517901;ENST00000517547	T;T;T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37;-1.37;-1.37	5.68	-2.87	0.05700	Neurotransmitter-gated ion-channel ligand-binding (3);Neurotransmitter-gated ion-channel, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.89196	0.6646	M	0.84948	2.725	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.85130	0.986;0.997;0.991;0.994	D	0.90272	0.4308	10	0.87932	D	0	.	17.7914	0.88553	0.0:0.0:0.6057:0.3943	.	5;102;165;165	B7Z279;E7EV50;P47870;P47870-1	.;.;GBRB2_HUMAN;.	W	165;165;165;165;102;5	ENSP00000377531:R165W;ENSP00000274547:R165W;ENSP00000274546:R165W;ENSP00000429320:R165W;ENSP00000430532:R102W;ENSP00000429750:R5W	ENSP00000274547:R165W	R	-	1	2	GABRB2	160770607	0.895000	0.30542	0.851000	0.33527	0.997000	0.91878	0.689000	0.25437	-0.227000	0.09884	0.460000	0.39030	AGG		PASS	0.443	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1			26	78	26	78	---	---	---	---
DOCK2	1794	broad.mit.edu	37	5	169446101	169446101	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr5:169446101G>T	ENST00000256935.8	+	33	3450	c.3370G>T	c.(3370-3372)Gat>Tat	p.D1124Y	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.D616Y|DOCK2_ENST00000540750.1_Missense_Mutation_p.D185Y	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1124	Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.D1124Y(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAGAAGTGGGGATTTCAAAAA	0.453																																						uc003maf.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(2)	7						c.(3370-3372)GAT>TAT		dedicator of cytokinesis 2							127.0	131.0	130.0					5																	169446101		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169446101G>T	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.3370G>T	5.37:g.169446101G>T	ENSP00000256935:p.Asp1124Tyr					DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.D616Y	p.D1124Y	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		33	3450	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1124			DHR-2.|Interaction with CRKL.		Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.3370G>T	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.822116	0.50739	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.44482	0.92;0.92;0.92	4.81	4.81	0.61882	.	0.171919	0.49916	D	0.000131	T	0.40247	0.1109	L	0.49126	1.545	0.35936	D	0.832848	P;B	0.44195	0.828;0.162	B;B	0.37833	0.259;0.066	T	0.59467	-0.7449	10	0.87932	D	0	.	17.9094	0.88929	0.0:0.0:1.0:0.0	.	616;1124	E7ERW7;Q92608	.;DOCK2_HUMAN	Y	1124;616;185	ENSP00000256935:D1124Y;ENSP00000429283:D616Y;ENSP00000438827:D185Y	ENSP00000256935:D1124Y	D	+	1	0	DOCK2	169378679	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.851000	0.62896	2.222000	0.72286	0.557000	0.71058	GAT		PASS	0.453	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		85	173	85	173	---	---	---	---
MAK	4117	broad.mit.edu	37	6	10764777	10764777	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr6:10764777C>G	ENST00000313243.2	-	14	2162	c.1780G>C	c.(1780-1782)Gca>Cca	p.A594P	SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000538030.1_3'UTR|RP11-637O19.3_ENST00000480294.1_Intron|MAK_ENST00000474039.1_Missense_Mutation_p.A594P|MAK_ENST00000354489.2_Missense_Mutation_p.A594P			P20794	MAK_HUMAN	male germ cell-associated kinase	594					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|photoreceptor cell maintenance (GO:0045494)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|transcription coactivator activity (GO:0003713)	p.A594P(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				AGGTTTTTTGCTGTAGGATTA	0.458																																						uc003mzl.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|skin(1)	3						c.(1780-1782)GCA>CCA		male germ cell-associated kinase							109.0	107.0	108.0					6																	10764777		2203	4300	6503	SO:0001583	missense	4117				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity	g.chr6:10764777C>G		CCDS4516.1, CCDS75398.1, CCDS75399.1	6p24.2	2014-01-28			ENSG00000111837	ENSG00000111837			6816	protein-coding gene	gene with protein product		154235				16951154	Standard	NM_005906		Approved	dJ417M14.2, RP62	uc021ylk.1	P20794	OTTHUMG00000014247	ENST00000313243.2:c.1780G>C	6.37:g.10764777C>G	ENSP00000313021:p.Ala594Pro					SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jos.1_Intron|MAK_uc010jot.2_RNA|MAK_uc010jou.2_RNA|MAK_uc003mzm.2_Missense_Mutation_p.A594P	p.A594P	NM_005906	NP_005897	P20794	MAK_HUMAN			13	2009	-	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)	594					F1T0K6|G1FL29|Q547D0|Q9NUH7	Missense_Mutation	SNP	ENST00000313243.2	37	c.1780G>C	CCDS4516.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.209125	0.39003	.	.	ENSG00000111837	ENST00000313243;ENST00000354489	T;T	0.72725	-0.68;-0.68	5.76	2.99	0.34606	.	0.179263	0.48767	D	0.000175	T	0.43964	0.1271	L	0.55103	1.725	0.41114	D	0.985769	B	0.06786	0.001	B	0.10450	0.005	T	0.38542	-0.9656	10	0.42905	T	0.14	.	5.4502	0.16560	0.1433:0.63:0.0:0.2267	.	594	P20794	MAK_HUMAN	P	594	ENSP00000313021:A594P;ENSP00000346484:A594P	ENSP00000313021:A594P	A	-	1	0	MAK	10872763	0.807000	0.29009	0.770000	0.31555	0.982000	0.71751	0.497000	0.22514	0.339000	0.23719	0.655000	0.94253	GCA		PASS	0.458	MAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039841.1	NM_005906		71	169	71	169	---	---	---	---
NEDD9	4739	broad.mit.edu	37	6	11190369	11190369	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr6:11190369T>A	ENST00000379446.5	-	5	1899	c.1733A>T	c.(1732-1734)gAg>gTg	p.E578V	NEDD9_ENST00000504387.1_Missense_Mutation_p.E578V|RP3-510L9.1_ENST00000500636.2_RNA	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	578					actin filament bundle assembly (GO:0051017)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|integrin-mediated signaling pathway (GO:0007229)|mitotic nuclear division (GO:0007067)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle pole (GO:0000922)		p.E578V(3)		endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			GTGTGGGTACTCCGTTGAGTT	0.617																																						uc003mzv.2																			3	Substitution - Missense(3)		lung(3)		0						c.(1732-1734)GAG>GTG		neural precursor cell expressed, developmentally							72.0	70.0	71.0					6																	11190369		2203	4300	6503	SO:0001583	missense	4739				actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding	g.chr6:11190369T>A	L43821	CCDS4520.1, CCDS34340.1, CCDS47373.1, CCDS75400.1	6p25-p24	2011-04-13			ENSG00000111859	ENSG00000111859		"""Cas scaffolding proteins"""	7733	protein-coding gene	gene with protein product	"""Cas scaffolding protein family member 2"", ""Cas-like"""	602265					Standard	NM_182966		Approved	HEF1, CAS-L, CASS2	uc003mzv.2	Q14511	OTTHUMG00000014255	ENST00000379446.5:c.1733A>T	6.37:g.11190369T>A	ENSP00000368759:p.Glu578Val					NEDD9_uc010joz.2_Missense_Mutation_p.E578V|NEDD9_uc003mzw.3_Missense_Mutation_p.E432V	p.E578V	NM_006403	NP_006394	Q14511	CASL_HUMAN	Epithelial(50;0.0647)|all cancers(50;0.179)		5	1900	-	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	578					A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0	Missense_Mutation	SNP	ENST00000379446.5	37	c.1733A>T	CCDS4520.1	.	.	.	.	.	.	.	.	.	.	T	11.34	1.611248	0.28712	.	.	ENSG00000111859	ENST00000379446;ENST00000504387	T;T	0.42900	0.96;1.09	5.7	5.7	0.88788	.	0.420734	0.22787	N	0.055649	T	0.14056	0.0340	N	0.08118	0	0.80722	D	1	B;B;B	0.32128	0.003;0.004;0.357	B;B;B	0.32805	0.009;0.007;0.153	T	0.10314	-1.0635	10	0.31617	T	0.26	-24.888	15.9677	0.79987	0.0:0.0:0.0:1.0	.	578;578;578	G5E9Y9;A8K9G7;Q14511	.;.;CASL_HUMAN	V	578	ENSP00000368759:E578V;ENSP00000422871:E578V	ENSP00000368759:E578V	E	-	2	0	NEDD9	11298355	1.000000	0.71417	0.982000	0.44146	0.041000	0.13682	4.435000	0.59941	2.174000	0.68829	0.528000	0.53228	GAG		PASS	0.617	NEDD9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039853.2	NM_006403		41	105	41	105	---	---	---	---
HIVEP1	3096	broad.mit.edu	37	6	12161770	12161770	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr6:12161770G>T	ENST00000379388.2	+	8	6918	c.6586G>T	c.(6586-6588)Gac>Tac	p.D2196Y	HIVEP1_ENST00000541134.1_Missense_Mutation_p.D61Y	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2196					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D2196Y(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CGATGATGAGGACAGCCAGGC	0.478																																						uc003nac.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(6586-6588)GAC>TAC		human immunodeficiency virus type I enhancer							75.0	85.0	82.0					6																	12161770		2110	4230	6340	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12161770G>T	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.6586G>T	6.37:g.12161770G>T	ENSP00000368698:p.Asp2196Tyr					HIVEP1_uc011diq.1_RNA	p.D2196Y	NM_002114	NP_002105	P15822	ZEP1_HUMAN			8	6765	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	2196					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.6586G>T	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052148	0.75960	.	.	ENSG00000095951	ENST00000379388;ENST00000442081;ENST00000541134;ENST00000542327	T;T	0.38240	2.5;1.15	5.77	5.77	0.91146	.	0.000000	0.36482	N	0.002580	T	0.62011	0.2393	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66081	-0.6012	10	0.66056	D	0.02	-32.2385	19.9827	0.97334	0.0:0.0:1.0:0.0	.	2196	P15822	ZEP1_HUMAN	Y	2196;123;61;178	ENSP00000368698:D2196Y;ENSP00000445617:D61Y	ENSP00000368698:D2196Y	D	+	1	0	HIVEP1	12269756	1.000000	0.71417	0.973000	0.42090	0.293000	0.27360	8.955000	0.93058	2.728000	0.93425	0.655000	0.94253	GAC		PASS	0.478	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		34	83	34	83	---	---	---	---
FAM8A1	51439	broad.mit.edu	37	6	17601125	17601125	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr6:17601125C>T	ENST00000259963.3	+	1	540	c.485C>T	c.(484-486)gCg>gTg	p.A162V		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	162						integral component of membrane (GO:0016021)		p.A162V(1)		endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			CCCCAggccgcggcgccgccg	0.746																																						uc003ncc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(484-486)GCG>GTG		family with sequence similarity 8, member A1							5.0	6.0	6.0					6																	17601125		1508	3312	4820	SO:0001583	missense	51439					integral to membrane		g.chr6:17601125C>T	AF097027	CCDS4540.1	6p23	2010-11-22			ENSG00000137414	ENSG00000137414			16372	protein-coding gene	gene with protein product						11707071	Standard	NM_016255		Approved	AHCP	uc003ncc.3	Q9UBU6	OTTHUMG00000014309	ENST00000259963.3:c.485C>T	6.37:g.17601125C>T	ENSP00000259963:p.Ala162Val						p.A162V	NM_016255	NP_057339	Q9UBU6	FA8A1_HUMAN	all cancers(50;0.176)|Epithelial(50;0.204)		1	608	+	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	162					B2R725	Missense_Mutation	SNP	ENST00000259963.3	37	c.485C>T	CCDS4540.1	.	.	.	.	.	.	.	.	.	.	C	9.096	1.002914	0.19121	.	.	ENSG00000137414	ENST00000259963	.	.	.	3.2	1.25	0.21368	.	0.856621	0.09780	N	0.756792	T	0.06234	0.0161	N	0.14661	0.345	0.09310	N	0.999993	B	0.06786	0.001	B	0.04013	0.001	T	0.39292	-0.9621	9	0.21540	T	0.41	0.0553	4.5532	0.12124	0.0:0.6663:0.0:0.3337	.	162	Q9UBU6	FA8A1_HUMAN	V	162	.	ENSP00000259963:A162V	A	+	2	0	FAM8A1	17709104	0.000000	0.05858	0.261000	0.24466	0.089000	0.18198	-0.714000	0.05002	0.604000	0.29930	0.484000	0.47621	GCG		PASS	0.746	FAM8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039950.1			4	19	4	19	---	---	---	---
HSPA1L	3305	broad.mit.edu	37	6	31777883	31777883	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr6:31777883C>T	ENST00000375654.4	-	2	2056	c.1867G>A	c.(1867-1869)Gga>Aga	p.G623R	HSPA1L_ENST00000417199.3_Missense_Mutation_p.G623R	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	623					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)	p.G623R(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TACCCTGTTCCGCAGGCAGGC	0.458																																						uc003nxh.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(3)|pleura(1)|kidney(1)|skin(1)	6						c.(1867-1869)GGA>AGA		heat shock 70kDa protein 1-like							84.0	82.0	83.0					6																	31777883		2203	4300	6503	SO:0001583	missense	3305				response to unfolded protein		ATP binding	g.chr6:31777883C>T	D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"""Heat shock proteins / HSP70"""	5234	protein-coding gene	gene with protein product		140559	"""heat shock 70kD protein-like 1"""			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.1867G>A	6.37:g.31777883C>T	ENSP00000364805:p.Gly623Arg					HSPA1L_uc010jte.2_Missense_Mutation_p.G623R	p.G623R	NM_005527	NP_005518	P34931	HS71L_HUMAN			2	2050	-			623					A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Missense_Mutation	SNP	ENST00000375654.4	37	c.1867G>A	CCDS34413.1	.	.	.	.	.	.	.	.	.	.	C	6.768	0.510520	0.12883	.	.	ENSG00000204390	ENST00000375654;ENST00000417199;ENST00000375653	T;T	0.01068	5.38;5.38	5.52	2.59	0.31030	.	0.833861	0.09782	N	0.756460	T	0.00845	0.0028	M	0.85542	2.76	0.09310	N	1	D	0.53885	0.963	B	0.37943	0.261	T	0.48422	-0.9037	10	0.62326	D	0.03	-0.9058	7.3562	0.26721	0.1367:0.7045:0.0:0.1587	.	623	P34931	HS71L_HUMAN	R	623;623;568	ENSP00000364805:G623R;ENSP00000387691:G623R	ENSP00000364804:G568R	G	-	1	0	HSPA1L	31885862	0.000000	0.05858	0.002000	0.10522	0.533000	0.34776	1.123000	0.31308	0.789000	0.33779	0.591000	0.81541	GGA		PASS	0.458	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076416.2			27	96	27	96	---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38952061	38952061	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr6:38952061G>A	ENST00000359357.3	+	85	12634	c.12380G>A	c.(12379-12381)cGt>cAt	p.R4127H	DNAH8_ENST00000441566.1_Missense_Mutation_p.R4091H			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	4127					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R4127H(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTTGACAAACGTCTACTTAAT	0.348																																						uc003ooe.1																			2	Substitution - Missense(2)		lung(2)	skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(12379-12381)CGT>CAT		dynein, axonemal, heavy polypeptide 8							116.0	113.0	114.0					6																	38952061		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38952061G>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.12380G>A	6.37:g.38952061G>A	ENSP00000352312:p.Arg4127His					DNAH8_uc003oog.1_Missense_Mutation_p.R576H	p.R4127H	NM_001371	NP_001362					85	12980	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.12380G>A		.	.	.	.	.	.	.	.	.	.	G	25.2	4.612471	0.87258	.	.	ENSG00000124721	ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.12984	2.63;2.63;2.63	5.98	5.98	0.97165	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.22820	0.0551	M	0.91406	3.205	0.80722	D	1	P;P	0.42649	0.746;0.786	B;B	0.40444	0.221;0.329	T	0.25950	-1.0117	10	0.72032	D	0.01	.	20.5212	0.99222	0.0:0.0:1.0:0.0	.	4091;4127	Q96JB1-2;Q96JB1	.;DYH8_HUMAN	H	4332;4127;4091	ENSP00000333363:R4332H;ENSP00000352312:R4127H;ENSP00000402294:R4091H	ENSP00000333363:R4332H	R	+	2	0	DNAH8	39060039	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.745000	0.74860	2.861000	0.98227	0.650000	0.86243	CGT		PASS	0.348	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		29	89	29	89	---	---	---	---
GPR111	222611	broad.mit.edu	37	6	47649746	47649746	+	Missense_Mutation	SNP	G	G	T	rs370408589		TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr6:47649746G>T	ENST00000296862.1	+	6	1451	c.1451G>T	c.(1450-1452)cGc>cTc	p.R484L	GPR111_ENST00000507065.1_Missense_Mutation_p.R416L|GPR111_ENST00000398742.2_Missense_Mutation_p.R416L			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	484					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)	p.R416L(1)|p.R484L(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						ACCTATTTACGCCATGTGTGC	0.468																																						uc010jzj.1																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1450-1452)CGC>CTC		G-protein coupled receptor 111							111.0	103.0	106.0					6																	47649746		2049	4209	6258	SO:0001583	missense	222611				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47649746G>T	AB065684		6p12.3	2014-08-08			ENSG00000164393	ENSG00000164393		"""-"", ""GPCR / Class B : Orphans"""	18991	protein-coding gene	gene with protein product						12435584	Standard	NM_153839		Approved	hGPCR35, PGR20	uc003oyy.3	Q8IZF7	OTTHUMG00000046168	ENST00000296862.1:c.1451G>T	6.37:g.47649746G>T	ENSP00000296862:p.Arg484Leu					GPR111_uc010jzk.1_Missense_Mutation_p.R416L|GPR111_uc003oyy.2_RNA	p.R484L	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN			6	1452	+			484			Cytoplasmic (Potential).		Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Missense_Mutation	SNP	ENST00000296862.1	37	c.1451G>T		.	.	.	.	.	.	.	.	.	.	G	19.49	3.837570	0.71373	.	.	ENSG00000164393	ENST00000507065;ENST00000296862;ENST00000398742	T;T;T	0.56444	0.46;0.46;0.46	5.52	5.52	0.82312	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000004	T	0.68348	0.2991	M	0.73372	2.23	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.71467	-0.4584	10	0.87932	D	0	.	18.4157	0.90568	0.0:0.0:1.0:0.0	.	416;484	Q8IZF7-2;Q8IZF7	.;GP111_HUMAN	L	416;484;416	ENSP00000422934:R416L;ENSP00000296862:R484L;ENSP00000381727:R416L	ENSP00000296862:R484L	R	+	2	0	GPR111	47757705	1.000000	0.71417	1.000000	0.80357	0.366000	0.29705	9.833000	0.99426	2.592000	0.87571	0.655000	0.94253	CGC		PASS	0.468	GPR111-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000106423.2	NM_153839		39	132	39	132	---	---	---	---
PGK2	5232	broad.mit.edu	37	6	49754437	49754437	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr6:49754437G>A	ENST00000304801.3	-	1	616	c.464C>T	c.(463-465)tCc>tTc	p.S155F		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	155					glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)	p.S155F(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					CCCTAGCTTGGAAAGTGATGC	0.498																																						uc003ozu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(463-465)TCC>TTC		phosphoglycerate kinase 2							110.0	105.0	107.0					6																	49754437		2203	4300	6503	SO:0001583	missense	5232				glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	g.chr6:49754437G>A	K03019	CCDS4930.1	6p12.3	2012-09-20		2002-04-19	ENSG00000170950	ENSG00000170950			8898	protein-coding gene	gene with protein product		172270				3839763, 3453121	Standard	NM_138733		Approved	PGKPS, PGK-2	uc003ozu.3	P07205	OTTHUMG00000014824	ENST00000304801.3:c.464C>T	6.37:g.49754437G>A	ENSP00000305995:p.Ser155Phe						p.S155F	NM_138733	NP_620061	P07205	PGK2_HUMAN			1	571	-	Lung NSC(77;0.0402)		155					B2R6Y8|Q9H107	Missense_Mutation	SNP	ENST00000304801.3	37	c.464C>T	CCDS4930.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.760396	0.31137	.	.	ENSG00000170950	ENST00000304801	D	0.92299	-3.01	4.09	3.19	0.36642	Phosphoglycerate kinase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95579	0.8563	M	0.92507	3.315	0.49389	D	0.999782	D	0.67145	0.996	D	0.67548	0.952	D	0.95896	0.8911	10	0.87932	D	0	-14.3073	11.2453	0.48993	0.0:0.0:0.8154:0.1846	.	155	P07205	PGK2_HUMAN	F	155	ENSP00000305995:S155F	ENSP00000305995:S155F	S	-	2	0	PGK2	49862396	1.000000	0.71417	0.392000	0.26245	0.095000	0.18619	5.770000	0.68873	1.260000	0.44134	0.585000	0.79938	TCC		PASS	0.498	PGK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040872.1			40	106	40	106	---	---	---	---
CNR1	1268	broad.mit.edu	37	6	88854426	88854426	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr6:88854426G>C	ENST00000537554.1	-	2	4130	c.568C>G	c.(568-570)Ctg>Gtg	p.L190V	CNR1_ENST00000468898.1_Missense_Mutation_p.L157V|CNR1_ENST00000369501.2_Missense_Mutation_p.L190V|CNR1_ENST00000428600.2_Missense_Mutation_p.L190V|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000549890.1_Missense_Mutation_p.L190V|CNR1_ENST00000369499.2_Missense_Mutation_p.L190V|CNR1_ENST00000549716.1_Missense_Mutation_p.L129V|CNR1_ENST00000535130.1_Missense_Mutation_p.L190V	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	190					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)	p.L190V(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	AGTTTGAACAGAAACACGTTG	0.577																																						uc011dzq.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(568-570)CTG>GTG		cannabinoid receptor 1 isoform a	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)						45.0	45.0	45.0					6																	88854426		2201	4292	6493	SO:0001583	missense	1268				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	g.chr6:88854426G>C	AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"""GPCR / Class A : Cannabinoid receptors"""	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.568C>G	6.37:g.88854426G>C	ENSP00000441046:p.Leu190Val					CNR1_uc010kbz.2_Missense_Mutation_p.L190V|CNR1_uc011dzr.1_Missense_Mutation_p.L190V|CNR1_uc011dzs.1_Missense_Mutation_p.L190V|CNR1_uc003pmq.3_Missense_Mutation_p.L190V|CNR1_uc011dzt.1_Missense_Mutation_p.L190V|CNR1_uc010kca.2_Missense_Mutation_p.L157V	p.L190V	NM_001160260	NP_001153732	P21554	CNR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.15)	2	4131	-		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)	190			Helical; Name=3; (Potential).		B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Missense_Mutation	SNP	ENST00000537554.1	37	c.568C>G	CCDS5015.1	.	.	.	.	.	.	.	.	.	.	G	9.783	1.175925	0.21704	.	.	ENSG00000118432	ENST00000369501;ENST00000535130;ENST00000537554;ENST00000369499;ENST00000549890;ENST00000468898;ENST00000428600;ENST00000549716	T;T;T;T;T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64	5.77	3.69	0.42338	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.66963	0.2843	L	0.33093	0.98	0.58432	D	0.999997	D;D	0.89917	0.998;1.0	D;D	0.91635	0.99;0.999	T	0.72200	-0.4362	10	0.87932	D	0	.	9.4945	0.38980	0.2491:0.0:0.7509:0.0	.	157;190	P21554-3;P21554	.;CNR1_HUMAN	V	190;190;190;190;190;157;190;129	ENSP00000358513:L190V;ENSP00000442689:L190V;ENSP00000441046:L190V;ENSP00000358511:L190V;ENSP00000446819:L190V;ENSP00000420188:L157V;ENSP00000412192:L190V;ENSP00000449549:L129V	ENSP00000358511:L190V	L	-	1	2	CNR1	88911145	1.000000	0.71417	1.000000	0.80357	0.205000	0.24178	3.484000	0.53201	1.453000	0.47775	-0.244000	0.11960	CTG		PASS	0.577	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2			5	56	5	56	---	---	---	---
AK9	221264	broad.mit.edu	37	6	109871346	109871346	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr6:109871346C>T	ENST00000424296.2	-	25	2987	c.2911G>A	c.(2911-2913)Gaa>Aaa	p.E971K	AK9_ENST00000341338.6_Missense_Mutation_p.E50K|AK9_ENST00000355283.1_Missense_Mutation_p.E50K	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	971					ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)	p.E50K(2)|p.E971K(1)									AAAAACTTTTCTTTAGCCTCA	0.408																																						uc003ptn.2																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(2911-2913)GAA>AAA		adenylate kinase domain containing 1 isoform 1							137.0	132.0	133.0					6																	109871346		2203	4300	6503	SO:0001583	missense	221264				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity	g.chr6:109871346C>T	AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.2911G>A	6.37:g.109871346C>T	ENSP00000410186:p.Glu971Lys					AKD1_uc011eat.1_Missense_Mutation_p.E50K	p.E971K	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN			25	2988	-			971					A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	ENST00000424296.2	37	c.2911G>A	CCDS55048.1	.	.	.	.	.	.	.	.	.	.	C	35	5.494683	0.96339	.	.	ENSG00000155085	ENST00000424296;ENST00000355283;ENST00000341338	T;T;T	0.66280	-0.17;-0.14;-0.2	5.42	5.42	0.78866	YHS (1);	0.261983	0.36444	N	0.002584	T	0.65238	0.2672	L	0.58969	1.84	0.42882	D	0.994171	P;D	0.56746	0.897;0.977	P;P	0.54590	0.603;0.756	T	0.63795	-0.6556	9	.	.	.	.	19.2173	0.93783	0.0:1.0:0.0:0.0	.	50;971	Q5TCS8-5;Q5TCS8	.;AKD1_HUMAN	K	971;50;50	ENSP00000410186:E971K;ENSP00000347431:E50K;ENSP00000344637:E50K	.	E	-	1	0	AKD1	109978039	1.000000	0.71417	0.993000	0.49108	0.985000	0.73830	6.461000	0.73522	2.522000	0.85027	0.563000	0.77884	GAA		PASS	0.408	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001145128		30	213	30	213	---	---	---	---
SERINC1	57515	broad.mit.edu	37	6	122772854	122772854	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr6:122772854C>A	ENST00000339697.4	-	7	889	c.805G>T	c.(805-807)Gtc>Ttc	p.V269F		NM_020755.2	NP_065806.1	Q9NRX5	SERC1_HUMAN	serine incorporator 1	269					L-serine transport (GO:0015825)|phosphatidylserine metabolic process (GO:0006658)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)	p.V269F(1)		endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13				GBM - Glioblastoma multiforme(226;0.126)		ATTGTGTAGACTGTAATTACT	0.299																																						uc003pyy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(805-807)GTC>TTC		serine incorporator 1							41.0	40.0	41.0					6																	122772854		2203	4295	6498	SO:0001583	missense	57515				phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	L-serine transmembrane transporter activity|protein binding	g.chr6:122772854C>A	AF087902	CCDS5125.1	6q22.32	2006-02-09	2005-10-14	2005-10-14	ENSG00000111897	ENSG00000111897			13464	protein-coding gene	gene with protein product		614548	"""tumor differentially expressed 2"""	TDE2		10637174	Standard	NM_020755		Approved	TMS-2, TDE1L, KIAA1253	uc003pyy.1	Q9NRX5	OTTHUMG00000015487	ENST00000339697.4:c.805G>T	6.37:g.122772854C>A	ENSP00000342962:p.Val269Phe						p.V269F	NM_020755	NP_065806	Q9NRX5	SERC1_HUMAN		GBM - Glioblastoma multiforme(226;0.126)	7	875	-			269			Helical; (Potential).		B3KY69|E1P565|O75655|Q7Z2F5|Q8TAG1|Q9NTH8|Q9ULG7	Missense_Mutation	SNP	ENST00000339697.4	37	c.805G>T	CCDS5125.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.851388	0.51270	.	.	ENSG00000111897	ENST00000339697;ENST00000368454	T;T	0.15139	2.45;2.45	5.61	1.22	0.21188	.	0.314039	0.33980	N	0.004368	T	0.05456	0.0144	L	0.33245	0.995	0.44611	D	0.997585	B	0.02656	0.0	B	0.16722	0.016	T	0.16364	-1.0405	10	0.72032	D	0.01	-6.1151	9.6874	0.40107	0.0:0.5776:0.0:0.4224	.	269	Q9NRX5	SERC1_HUMAN	F	269	ENSP00000342962:V269F;ENSP00000357439:V269F	ENSP00000342962:V269F	V	-	1	0	SERINC1	122814553	0.238000	0.23825	0.997000	0.53966	0.998000	0.95712	0.339000	0.19875	0.303000	0.22785	0.650000	0.86243	GTC		PASS	0.299	SERINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042031.2	NM_020755		3	68	3	68	---	---	---	---
BCLAF1	9774	broad.mit.edu	37	6	136599751	136599751	+	Silent	SNP	G	G	T			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr6:136599751G>T	ENST00000531224.1	-	4	520	c.268C>A	c.(268-270)Cga>Aga	p.R90R	BCLAF1_ENST00000530767.1_Silent_p.R90R|BCLAF1_ENST00000527536.1_Silent_p.R90R|BCLAF1_ENST00000527759.1_Silent_p.R88R|BCLAF1_ENST00000353331.4_Silent_p.R88R|BCLAF1_ENST00000392348.2_Silent_p.R88R	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	90					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.R90R(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TAACCACCTCGATGATATCTA	0.458																																					Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(268-270)CGA>AGA		BCL2-associated transcription factor 1 isoform							126.0	119.0	121.0					6																	136599751		2203	4300	6503	SO:0001819	synonymous_variant	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136599751G>T	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.268C>A	6.37:g.136599751G>T						BCLAF1_uc003qgw.1_Silent_p.R90R|BCLAF1_uc003qgy.1_Silent_p.R88R|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Silent_p.R88R	p.R90R	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	4	521	-	Colorectal(23;0.24)		90					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Silent	SNP	ENST00000531224.1	37	c.268C>A	CCDS5177.1																																																																																				PASS	0.458	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		39	315	39	315	---	---	---	---
OPRM1	4988	broad.mit.edu	37	6	154412554	154412554	+	Missense_Mutation	SNP	A	A	C	rs201538512		TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr6:154412554A>C	ENST00000330432.7	+	3	1348	c.1111A>C	c.(1111-1113)Aac>Cac	p.N371H	OPRM1_ENST00000414028.2_Missense_Mutation_p.N371H|OPRM1_ENST00000428397.2_Missense_Mutation_p.N371H|OPRM1_ENST00000434900.2_Missense_Mutation_p.N464H|OPRM1_ENST00000435918.2_Missense_Mutation_p.N371H|OPRM1_ENST00000360422.4_Missense_Mutation_p.N371H|OPRM1_ENST00000518759.1_Missense_Mutation_p.N290H|OPRM1_ENST00000452687.2_Missense_Mutation_p.N371H|OPRM1_ENST00000522236.1_Missense_Mutation_p.N271H|OPRM1_ENST00000419506.2_Missense_Mutation_p.N371H|OPRM1_ENST00000337049.4_Missense_Mutation_p.N371H|OPRM1_ENST00000522555.1_Missense_Mutation_p.N271H|OPRM1_ENST00000520708.1_Missense_Mutation_p.N271H|OPRM1_ENST00000229768.5_Missense_Mutation_p.N371H|OPRM1_ENST00000524163.1_Missense_Mutation_p.N371H	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1	371					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)	p.N371H(2)|p.N464H(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	AATTCGTCAGAACACTAGAGA	0.423																																						uc003qpr.2																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(1111-1113)AAC>CAC		opioid receptor, mu 1 isoform MOR-1	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)						51.0	51.0	51.0					6																	154412554		1915	4115	6030	SO:0001583	missense	4988				behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	g.chr6:154412554A>C	L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"""GPCR / Class A : Opioid receptors"""	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.1111A>C	6.37:g.154412554A>C	ENSP00000328264:p.Asn371His					OPRM1_uc011efc.1_Missense_Mutation_p.N290H|OPRM1_uc011efd.1_Missense_Mutation_p.N271H|OPRM1_uc011efe.1_Missense_Mutation_p.N464H|OPRM1_uc003qpn.2_Missense_Mutation_p.N371H|OPRM1_uc003qpo.1_Missense_Mutation_p.N371H|OPRM1_uc011eff.1_Missense_Mutation_p.N371H|OPRM1_uc011efg.1_Missense_Mutation_p.N371H|OPRM1_uc011efh.1_Missense_Mutation_p.N371H|OPRM1_uc003qpq.1_Missense_Mutation_p.N371H|OPRM1_uc003qpt.1_Missense_Mutation_p.N371H|OPRM1_uc011efi.1_Missense_Mutation_p.N371H|OPRM1_uc003qpp.2_RNA|OPRM1_uc003qps.2_RNA|OPRM1_uc010kjg.2_Missense_Mutation_p.N271H|OPRM1_uc003qpu.2_Missense_Mutation_p.N271H	p.N371H	NM_000914	NP_000905	P35372	OPRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	3	1348	+		Ovarian(120;0.196)	371			Cytoplasmic (Potential).		B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Missense_Mutation	SNP	ENST00000330432.7	37	c.1111A>C	CCDS55070.1	.	.	.	.	.	.	.	.	.	.	A	18.92	3.724754	0.68959	.	.	ENSG00000112038	ENST00000434900;ENST00000520708;ENST00000518759;ENST00000330432;ENST00000360422;ENST00000428397;ENST00000452687;ENST00000229768;ENST00000419506;ENST00000524163;ENST00000414028;ENST00000435918;ENST00000337049;ENST00000522555;ENST00000522236	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23	6.16	6.16	0.99307	.	0.294186	0.42420	D	0.000709	T	0.40645	0.1125	L	0.47716	1.5	0.40683	D	0.982328	D;P;P;D;D;P;P;P;P;D;D;P	0.62365	0.991;0.933;0.933;0.991;0.975;0.89;0.709;0.933;0.89;0.98;0.975;0.933	P;P;P;P;P;P;B;P;P;P;P;P	0.59643	0.861;0.77;0.77;0.861;0.854;0.497;0.401;0.77;0.593;0.844;0.854;0.77	T	0.15122	-1.0448	10	0.41790	T	0.15	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	371;371;371;371;464;290;271;371;371;371;371;371	P35372-4;P35372-8;P35372-11;P35372-9;P35372-10;B8Q1L9;Q6UPP1;P35372-5;P35372;P35372-7;P35372-3;P35372-2	.;.;.;.;.;.;.;.;OPRM_HUMAN;.;.;.	H	464;271;290;371;371;371;371;371;371;371;371;371;371;271;271	ENSP00000394624:N464H;ENSP00000430876:N271H;ENSP00000430260:N290H;ENSP00000328264:N371H;ENSP00000353598:N371H;ENSP00000411903:N371H;ENSP00000410497:N371H;ENSP00000229768:N371H;ENSP00000403549:N371H;ENSP00000430097:N371H;ENSP00000399359:N371H;ENSP00000413752:N371H;ENSP00000338381:N371H;ENSP00000429719:N271H;ENSP00000429373:N271H	ENSP00000229768:N371H	N	+	1	0	OPRM1	154454247	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.798000	0.62510	2.367000	0.80283	0.528000	0.53228	AAC		PASS	0.423	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042786.2	NM_000914		12	86	12	86	---	---	---	---
NPSR1	387129	broad.mit.edu	37	7	34698163	34698163	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr7:34698163T>C	ENST00000360581.1	+	1	267	c.139T>C	c.(139-141)Tcc>Ccc	p.S47P	NPSR1_ENST00000531252.1_Missense_Mutation_p.S47P|NPSR1_ENST00000381539.3_Missense_Mutation_p.S47P|NPSR1_ENST00000465305.1_Missense_Mutation_p.S47P|NPSR1_ENST00000381553.3_Missense_Mutation_p.S47P|NPSR1-AS1_ENST00000419766.1_RNA|AC005493.1_ENST00000399077.1_Intron|NPSR1_ENST00000381542.1_Missense_Mutation_p.S47P|NPSR1_ENST00000359791.1_Missense_Mutation_p.S47P	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	47						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|vasopressin receptor activity (GO:0005000)	p.S47P(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CTTCTACTACTCCTTTAAGGT	0.453																																						uc003teg.1																			2	Substitution - Missense(2)		lung(2)	skin(3)|pancreas(1)	4						c.(139-141)TCC>CCC		G protein-coupled receptor for asthma	Halothane(DB01159)						132.0	126.0	128.0					7																	34698163		2203	4300	6503	SO:0001583	missense	387129					cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity	g.chr7:34698163T>C	AY255536	CCDS5443.1, CCDS5444.1, CCDS75579.1, CCDS75580.1, CCDS75581.1	7p14.3	2012-08-08	2006-05-10	2006-05-10	ENSG00000187258	ENSG00000187258		"""GPCR / Class A : Neuropeptide receptors : S"""	23631	protein-coding gene	gene with protein product		608595	"""G protein-coupled receptor 154"""	GPR154		12679517, 15073379	Standard	NM_207173		Approved	PGR14, GPRA	uc003tei.1	Q6W5P4	OTTHUMG00000099383	ENST00000360581.1:c.139T>C	7.37:g.34698163T>C	ENSP00000353788:p.Ser47Pro					AAA1_uc010kwo.1_Intron|AAA1_uc010kwp.1_Intron|AAA1_uc003tdz.2_Intron|AAA1_uc010kwq.1_Intron|AAA1_uc003teb.1_Intron|AAA1_uc011kaq.1_Intron|NPSR1_uc003teh.1_Missense_Mutation_p.S47P|NPSR1_uc010kwt.1_5'UTR|NPSR1_uc010kwu.1_5'UTR|NPSR1_uc010kwv.1_Missense_Mutation_p.S47P|NPSR1_uc003tei.1_Missense_Mutation_p.S47P|NPSR1_uc010kww.1_Missense_Mutation_p.S47P|NPSR1_uc011kar.1_Missense_Mutation_p.S47P	p.S47P	NM_207172	NP_997055	Q6W5P4	NPSR1_HUMAN			1	267	+			47			Extracellular (Potential).		A2RTZ4|Q2XP58|Q56H76|Q56H77|Q56H78|Q6JSL4|Q6JSL5|Q6JSL6|Q6JSL7|Q6JSL8|Q6W5P3|Q6ZMB8	Missense_Mutation	SNP	ENST00000360581.1	37	c.139T>C	CCDS5444.1	.	.	.	.	.	.	.	.	.	.	T	19.26	3.792988	0.70452	.	.	ENSG00000187258	ENST00000381553;ENST00000465305;ENST00000360581;ENST00000381542;ENST00000359791;ENST00000531252;ENST00000381539	T;T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46;1.46	4.67	4.67	0.58626	.	0.000000	0.52532	D	0.000065	T	0.38268	0.1034	L	0.27053	0.805	0.38858	D	0.956415	D;D;D;B;D;B	0.76494	0.998;0.999;0.997;0.236;0.999;0.152	D;D;D;B;D;B	0.83275	0.991;0.943;0.991;0.07;0.996;0.032	T	0.16600	-1.0397	10	0.27785	T	0.31	-33.2738	10.6868	0.45848	0.0:0.0:0.0:1.0	.	47;47;47;47;47;47	B7ZMA2;Q6W5P4-5;Q6W5P4-2;Q6W5P4-4;Q6W5P4-3;Q6W5P4	.;.;.;.;.;NPSR1_HUMAN	P	47	ENSP00000370965:S47P;ENSP00000434955:S47P;ENSP00000353788:S47P;ENSP00000370953:S47P;ENSP00000352839:S47P;ENSP00000433258:S47P;ENSP00000370950:S47P	ENSP00000352839:S47P	S	+	1	0	NPSR1	34664688	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	4.220000	0.58567	2.092000	0.63282	0.533000	0.62120	TCC		PASS	0.453	NPSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216837.1	NM_207173		22	98	22	98	---	---	---	---
AOAH	313	broad.mit.edu	37	7	36552884	36552884	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr7:36552884C>A	ENST00000258749.5	-	21	2101	c.1702G>T	c.(1702-1704)Gtg>Ttg	p.V568L	AOAH_ENST00000535891.1_Missense_Mutation_p.V536L|AOAH_ENST00000431169.1_Missense_Mutation_p.R607S|AOAH_ENST00000538464.1_Missense_Mutation_p.V290L	NM_001637.3	NP_001628.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	568					inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|lipopolysaccharide metabolic process (GO:0008653)|negative regulation of inflammatory response (GO:0050728)	extracellular region (GO:0005576)	acyloxyacyl hydrolase activity (GO:0050528)|catalytic activity (GO:0003824)|lipoprotein lipase activity (GO:0004465)	p.V568L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						TCTCCAAACACCTGTTTAATC	0.552																																						uc003tfh.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1702-1704)GTG>TTG		acyloxyacyl hydrolase precursor							96.0	94.0	95.0					7																	36552884		2203	4300	6503	SO:0001583	missense	313				inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity	g.chr7:36552884C>A	BC025698	CCDS5448.1, CCDS55102.1, CCDS75584.1	7p14-p12	2014-03-14			ENSG00000136250	ENSG00000136250	3.1.1.77		548	protein-coding gene	gene with protein product		102593				1883828	Standard	NM_001637		Approved		uc022abu.1	P28039	OTTHUMG00000023566	ENST00000258749.5:c.1702G>T	7.37:g.36552884C>A	ENSP00000258749:p.Val568Leu					AOAH_uc010kxf.2_Missense_Mutation_p.R607S|AOAH_uc011kba.1_Missense_Mutation_p.V536L	p.V568L	NM_001637	NP_001628	P28039	AOAH_HUMAN			21	2103	-			568					A4D1Y5|B7Z490|Q53F13	Missense_Mutation	SNP	ENST00000258749.5	37	c.1702G>T	CCDS5448.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	11.01|11.01	1.514157|1.514157	0.27123|0.27123	.|.	.|.	ENSG00000136250|ENSG00000136250	ENST00000431169;ENST00000544647|ENST00000538464;ENST00000535891;ENST00000258749	T|T;T	0.79352|0.76186	-1.26|2.0;-1.0	4.67|4.67	3.71|3.71	0.42584|0.42584	.|.	.|0.110883	.|0.39274	.|N	.|0.001415	T|T	0.78960|0.78960	0.4366|0.4366	.|.	.|.	.|.	0.27934|0.27934	N|N	0.937781|0.937781	B|D;P	0.18461|0.58970	0.028|0.984;0.465	B|D;B	0.14023|0.68192	0.01|0.956;0.219	T|T	0.67917|0.67917	-0.5546|-0.5546	8|9	0.87932|0.22109	D|T	0|0.4	.|.	9.7884|9.7884	0.40690|0.40690	0.0:0.7272:0.2728:0.0|0.0:0.7272:0.2728:0.0	.|.	607|536;568	C9J8T1|B7Z490;P28039	.|.;AOAH_HUMAN	S|L	607|290;536;568	ENSP00000405683:R607S|ENSP00000441101:V536L;ENSP00000258749:V568L	ENSP00000405683:R607S|ENSP00000258749:V568L	R|V	-|-	3|1	2|0	AOAH|AOAH	36519409|36519409	0.500000|0.500000	0.26091|0.26091	0.996000|0.996000	0.52242|0.52242	0.870000|0.870000	0.49936|0.49936	0.600000|0.600000	0.24104|0.24104	2.322000|2.322000	0.78497|0.78497	0.550000|0.550000	0.68814|0.68814	AGG|GTG		PASS	0.552	AOAH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219829.2	NM_001637		39	126	39	126	---	---	---	---
TYW1	55253	broad.mit.edu	37	7	66474576	66474576	+	Missense_Mutation	SNP	G	G	T	rs201171310		TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr7:66474576G>T	ENST00000359626.5	+	4	444	c.280G>T	c.(280-282)Gca>Tca	p.A94S		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	94	Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}.				tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)	p.A94S(1)|p.A94T(1)		breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				TTAGGGATTCGCAACAGTTCT	0.398																																						uc003tvn.2																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	skin(1)	1						c.(280-282)GCA>TCA		radical S-adenosyl methionine and flavodoxin							137.0	122.0	127.0					7																	66474576		2203	4300	6503	SO:0001583	missense	55253				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:66474576G>T	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"""	611243	"""radical S-adenosyl methionine and flavodoxin domains 1"""	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.280G>T	7.37:g.66474576G>T	ENSP00000352645:p.Ala94Ser					TYW1_uc010lai.2_RNA	p.A94S	NM_018264	NP_060734	Q9NV66	TYW1_HUMAN			4	429	+		Lung NSC(55;0.0846)|all_lung(88;0.183)	94			Flavodoxin-like.		Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Missense_Mutation	SNP	ENST00000359626.5	37	c.280G>T	CCDS5538.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.334576	0.60853	.	.	ENSG00000198874	ENST00000359626;ENST00000442959	D;D	0.93133	-3.17;-3.17	3.75	3.75	0.43078	Flavodoxin/nitric oxide synthase (2);	0.000000	0.85682	U	0.000000	D	0.95586	0.8565	M	0.74389	2.26	0.80722	D	1	D	0.65815	0.995	D	0.66084	0.941	D	0.94898	0.8054	10	0.41790	T	0.15	.	13.406	0.60913	0.0:0.0:1.0:0.0	.	94	Q9NV66	TYW1_HUMAN	S	94	ENSP00000352645:A94S;ENSP00000398897:A94S	ENSP00000352645:A94S	A	+	1	0	TYW1	66112011	1.000000	0.71417	0.986000	0.45419	0.422000	0.31414	8.213000	0.89758	2.096000	0.63516	0.491000	0.48974	GCA		PASS	0.398	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		61	144	61	144	---	---	---	---
TRIM50	135892	broad.mit.edu	37	7	72727109	72727109	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr7:72727109T>G	ENST00000333149.2	-	7	1472	c.1272A>C	c.(1270-1272)gaA>gaC	p.E424D	TRIM50_ENST00000453152.1_Missense_Mutation_p.E424D	NM_178125.2	NP_835226.2	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	424	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.E424D(2)		endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						AGAAGGTGAGTTCGCCCTGCT	0.672																																						uc010lbd.1																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1270-1272)GAA>GAC		tripartite motif protein 50A							30.0	25.0	27.0					7																	72727109		2200	4294	6494	SO:0001583	missense	135892					cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding	g.chr7:72727109T>G	AY081948	CCDS34654.1	7q11.23	2013-01-09	2011-01-25	2006-03-31	ENSG00000146755	ENSG00000146755		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19017	protein-coding gene	gene with protein product		612548	"""tripartite motif-containing 50A"", ""tripartite motif-containing 50"""	TRIM50A			Standard	NM_001281450		Approved	FLJ32804	uc003txy.1	Q86XT4	OTTHUMG00000156805	ENST00000333149.2:c.1272A>C	7.37:g.72727109T>G	ENSP00000327994:p.Glu424Asp					FKBP6_uc003twz.2_Intron|TRIM50_uc003txy.1_Missense_Mutation_p.E424D|TRIM50_uc003txz.1_Missense_Mutation_p.E423D	p.E424D	NM_178125	NP_835226	Q86XT4	TRI50_HUMAN			7	1397	-			424			B30.2/SPRY.		Q86XT3	Missense_Mutation	SNP	ENST00000333149.2	37	c.1272A>C	CCDS34654.1	.	.	.	.	.	.	.	.	.	.	T	14.73	2.622242	0.46840	.	.	ENSG00000146755	ENST00000333149;ENST00000453152	T;T	0.71579	-0.58;-0.58	4.92	1.99	0.26369	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.56097	D	0.000021	T	0.64768	0.2628	N	0.25789	0.76	0.30635	N	0.757123	D;D	0.63880	0.991;0.993	P;P	0.60415	0.801;0.874	T	0.60939	-0.7163	10	0.13853	T	0.58	.	7.3421	0.26644	0.0:0.6236:0.0:0.3764	.	423;424	Q86XT4-2;Q86XT4	.;TRI50_HUMAN	D	424	ENSP00000327994:E424D;ENSP00000413875:E424D	ENSP00000327994:E424D	E	-	3	2	TRIM50	72365045	0.022000	0.18835	0.992000	0.48379	0.271000	0.26615	0.205000	0.17356	0.235000	0.21160	-1.215000	0.01618	GAA		PASS	0.672	TRIM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345925.1	NM_178125		2	6	2	6	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82545860	82545860	+	Silent	SNP	C	C	T			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr7:82545860C>T	ENST00000333891.9	-	7	11779	c.11442G>A	c.(11440-11442)aaG>aaA	p.K3814K	PCLO_ENST00000423517.2_Silent_p.K3814K|PCLO_ENST00000437081.1_Silent_p.K534K	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.K3814K(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTCTCTCTCCTTTAATAGGG	0.448																																						uc003uhx.2																			2	Substitution - coding silent(2)		lung(2)	ovary(7)	7						c.(11440-11442)AAG>AAA		piccolo isoform 1							209.0	189.0	195.0					7																	82545860		1933	4131	6064	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82545860C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.11442G>A	7.37:g.82545860C>T						PCLO_uc003uhv.2_Silent_p.K3814K|PCLO_uc010lec.2_Silent_p.K779K	p.K3814K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			7	11731	-			3745						Silent	SNP	ENST00000333891.9	37	c.11442G>A	CCDS47630.1																																																																																				PASS	0.448	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		32	153	32	153	---	---	---	---
COL1A2	1278	broad.mit.edu	37	7	94058634	94058634	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr7:94058634G>T	ENST00000297268.6	+	51	4317	c.3846G>T	c.(3844-3846)gaG>gaT	p.E1282D		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1282	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)	p.E1282D(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGGATGAGGAGACTGGCAACC	0.478										HNSCC(75;0.22)																												uc003ung.1																		COL1A2/PLAG1(3)	1	Substitution - Missense(1)		lung(1)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9						c.(3844-3846)GAG>GAT		alpha 2 type I collagen precursor	Collagenase(DB00048)						130.0	103.0	113.0					7																	94058634		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94058634G>T	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.3846G>T	7.37:g.94058634G>T	ENSP00000297268:p.Glu1282Asp	HNSCC(75;0.22)				COL1A2_uc011kib.1_Intron	p.E1282D	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		51	4317	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		1282			Fibrillar collagen NC1.		P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.3846G>T	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.321116	0.41096	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	T	0.73681	-0.77	5.09	3.27	0.37495	Fibrillar collagen, C-terminal (4);	0.000000	0.85682	D	0.000000	T	0.74928	0.3781	L	0.56199	1.76	0.47094	D	0.999314	D	0.56746	0.977	P	0.51866	0.682	T	0.73072	-0.4098	10	0.39692	T	0.17	.	11.4237	0.49998	0.2086:0.0:0.7914:0.0	.	1282	P08123	CO1A2_HUMAN	D	1282;1283	ENSP00000297268:E1282D	ENSP00000297268:E1282D	E	+	3	2	COL1A2	93896570	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.159000	0.42339	0.798000	0.33994	0.655000	0.94253	GAG		PASS	0.478	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		49	64	49	64	---	---	---	---
TRIM56	81844	broad.mit.edu	37	7	100732826	100732826	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr7:100732826A>G	ENST00000306085.6	+	3	2530	c.2233A>G	c.(2233-2235)Atc>Gtc	p.I745V		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	745					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I745V(2)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					TAACGGGACCATCCACATCTT	0.607																																					Ovarian(89;1092 1379 22756 38989 39611)	uc003uxq.2																			2	Substitution - Missense(2)		lung(2)	kidney(1)|central_nervous_system(1)|skin(1)	3						c.(2233-2235)ATC>GTC		tripartite motif-containing 56							40.0	39.0	40.0					7																	100732826		1971	4147	6118	SO:0001583	missense	81844				defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr7:100732826A>G	BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19028	protein-coding gene	gene with protein product			"""tripartite motif-containing 56"""				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.2233A>G	7.37:g.100732826A>G	ENSP00000305161:p.Ile745Val					TRIM56_uc003uxr.2_Intron	p.I745V	NM_030961	NP_112223	Q9BRZ2	TRI56_HUMAN			3	2464	+	Lung NSC(181;0.136)|all_lung(186;0.182)		745					Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Missense_Mutation	SNP	ENST00000306085.6	37	c.2233A>G	CCDS43625.1	.	.	.	.	.	.	.	.	.	.	A	17.50	3.404885	0.62288	.	.	ENSG00000169871	ENST00000306085	T	0.29397	1.57	3.77	3.77	0.43336	Six-bladed beta-propeller, TolB-like (1);	.	.	.	.	T	0.25269	0.0614	N	0.08118	0	0.26400	N	0.976433	P	0.43314	0.803	P	0.55824	0.785	T	0.10177	-1.0641	9	0.10902	T	0.67	.	9.1742	0.37100	1.0:0.0:0.0:0.0	.	745	Q9BRZ2	TRI56_HUMAN	V	745	ENSP00000305161:I745V	ENSP00000305161:I745V	I	+	1	0	TRIM56	100519546	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	2.065000	0.41442	1.958000	0.56883	0.533000	0.62120	ATC		PASS	0.607	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347185.1	NM_030961		34	23	34	23	---	---	---	---
CUX1	1523	broad.mit.edu	37	7	101870787	101870787	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr7:101870787G>C	ENST00000292535.7	+	21	3309	c.3271G>C	c.(3271-3273)Gag>Cag	p.E1091Q	CUX1_ENST00000550008.2_Missense_Mutation_p.E1035Q|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.E989Q|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000360264.3_Missense_Mutation_p.E1102Q|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.E933Q|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.E1069Q	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	1091					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.E1091Q(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CAAGCCACCAGAGCCCAGTGA	0.637																																						uc003uyx.3																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(3271-3273)GAG>CAG		cut-like homeobox 1 isoform a							61.0	66.0	64.0					7																	101870787		2203	4300	6503	SO:0001583	missense	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101870787G>C	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.3271G>C	7.37:g.101870787G>C	ENSP00000292535:p.Glu1091Gln					CUX1_uc003uys.3_Missense_Mutation_p.E1102Q|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron	p.E1091Q	NM_181552	NP_853530	P39880	CUX1_HUMAN			21	3309	+			1091					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	c.3271G>C	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.726013	0.48833	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T	0.60040	0.24;0.26;0.22;0.23;0.24;0.25	5.88	5.88	0.94601	.	0.262496	0.36482	N	0.002561	T	0.57917	0.2086	L	0.53249	1.67	0.80722	D	1	P;P	0.41265	0.627;0.744	B;B	0.38327	0.105;0.271	T	0.62595	-0.6821	10	0.72032	D	0.01	-13.8016	20.2422	0.98381	0.0:0.0:1.0:0.0	.	1091;1102	P39880;P39880-3	CUX1_HUMAN;.	Q	1102;1091;1069;1035;989;933	ENSP00000353401:E1102Q;ENSP00000292535:E1091Q;ENSP00000446630:E1069Q;ENSP00000447373:E1035Q;ENSP00000450125:E989Q;ENSP00000451558:E933Q	ENSP00000292535:E1091Q	E	+	1	0	CUX1	101657507	1.000000	0.71417	0.641000	0.29422	0.038000	0.13279	7.235000	0.78143	2.782000	0.95742	0.655000	0.94253	GAG		PASS	0.637	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		9	64	9	64	---	---	---	---
KDM7A	80853	broad.mit.edu	37	7	139791688	139791688	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr7:139791688C>T	ENST00000397560.2	-	19	2744	c.2647G>A	c.(2647-2649)Ggt>Agt	p.G883S	Y_RNA_ENST00000515919.1_RNA	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		883					histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.G883S(1)		central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					GAAGTTTCACCAACTGGCCTT	0.502																																						uc003vvm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2647-2649)GGT>AGT		jumonji C domain containing histone demethylase							149.0	144.0	146.0					7																	139791688		1913	4130	6043	SO:0001583	missense	80853				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr7:139791688C>T																												ENST00000397560.2:c.2647G>A	7.37:g.139791688C>T	ENSP00000380692:p.Gly883Ser					JHDM1D_uc010lng.2_RNA	p.G883S	NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN			19	2651	-	Melanoma(164;0.0142)		883					A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Missense_Mutation	SNP	ENST00000397560.2	37	c.2647G>A	CCDS43658.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.069974	0.36566	.	.	ENSG00000006459	ENST00000397560	T	0.12465	2.68	5.8	4.92	0.64577	.	0.307141	0.37669	N	0.001983	T	0.25457	0.0619	L	0.40543	1.245	0.80722	D	1	D	0.67145	0.996	P	0.60609	0.877	T	0.00559	-1.1671	10	0.28530	T	0.3	-14.6789	16.3106	0.82869	0.0:0.9317:0.0:0.0683	.	883	Q6ZMT4	KDM7_HUMAN	S	883	ENSP00000380692:G883S	ENSP00000380692:G883S	G	-	1	0	JHDM1D	139438157	0.970000	0.33590	0.760000	0.31359	0.939000	0.58152	2.995000	0.49441	0.803000	0.34113	-0.797000	0.03246	GGT		PASS	0.502	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348460.1			69	80	69	80	---	---	---	---
EPHB6	2051	broad.mit.edu	37	7	142562028	142562028	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr7:142562028C>A	ENST00000392957.2	+	7	1257	c.470C>A	c.(469-471)aCa>aAa	p.T157K	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Missense_Mutation_p.T157K	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	157	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)	p.T142K(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					AAGGTGGACACAATTGCAGCA	0.632																																						uc011kst.1																			1	Substitution - Missense(1)		lung(1)	lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19						c.(469-471)ACA>AAA		ephrin receptor EphB6 precursor							63.0	68.0	66.0					7																	142562028		2203	4300	6503	SO:0001583	missense	2051					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142562028C>A	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.470C>A	7.37:g.142562028C>A	ENSP00000376684:p.Thr157Lys					EPHB6_uc011ksu.1_Missense_Mutation_p.T157K|EPHB6_uc003wbs.2_5'UTR|EPHB6_uc003wbt.2_Intron|EPHB6_uc003wbu.2_5'UTR	p.T157K	NM_004445	NP_004436	O15197	EPHB6_HUMAN			7	1257	+	Melanoma(164;0.059)		157			Extracellular (Potential).		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	ENST00000392957.2	37	c.470C>A	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	C	29.0	4.969901	0.92855	.	.	ENSG00000106123	ENST00000392957;ENST00000442129	T;T	0.05382	3.45;3.45	5.6	5.6	0.85130	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.46442	D	0.000284	T	0.33235	0.0856	M	0.89163	3.01	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.17653	-1.0362	10	0.87932	D	0	.	18.6073	0.91271	0.0:1.0:0.0:0.0	.	157	O15197	EPHB6_HUMAN	K	157	ENSP00000376684:T157K;ENSP00000410789:T157K	ENSP00000376684:T157K	T	+	2	0	EPHB6	142272150	1.000000	0.71417	0.951000	0.38953	0.924000	0.55760	7.813000	0.86123	2.640000	0.89533	0.655000	0.94253	ACA		PASS	0.632	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			31	200	31	200	---	---	---	---
KEL	3792	broad.mit.edu	37	7	142640367	142640367	+	Missense_Mutation	SNP	C	C	A	rs138511569		TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr7:142640367C>A	ENST00000355265.2	-	16	2241	c.1767G>T	c.(1765-1767)caG>caT	p.Q589H	KEL_ENST00000479768.2_5'Flank	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	589					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.Q589H(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					ACCCACAGAGCTGGTAGAAGA	0.557																																						uc003wcb.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(1765-1767)CAG>CAT		Kell blood group, metallo-endopeptidase		C	HIS/GLN	1,4405	2.1+/-5.4	0,1,2202	45.0	43.0	43.0		1767	0.9	0.1	7	dbSNP_134	43	0,8600		0,0,4300	no	missense	KEL	NM_000420.2	24	0,1,6502	AA,AC,CC		0.0,0.0227,0.0077	benign	589/733	142640367	1,13005	2203	4300	6503	SO:0001583	missense	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142640367C>A	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1767G>T	7.37:g.142640367C>A	ENSP00000347409:p.Gln589His						p.Q589H	NM_000420	NP_000411	P23276	KELL_HUMAN			16	1977	-	Melanoma(164;0.059)		589			Extracellular (Potential).		B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.1767G>T	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	c	10.16	1.272831	0.23221	2.27E-4	0.0	ENSG00000197993	ENST00000355265	D	0.82081	-1.57	5.01	0.87	0.19102	Peptidase M13, neprilysin, C-terminal (1);	0.734757	0.12372	N	0.474657	T	0.81074	0.4747	M	0.63169	1.94	0.09310	N	1	P	0.49696	0.927	P	0.48488	0.579	T	0.70718	-0.4795	10	0.87932	D	0	-0.4874	3.8455	0.08933	0.0:0.5048:0.1815:0.3136	.	589	P23276	KELL_HUMAN	H	589	ENSP00000347409:Q589H	ENSP00000347409:Q589H	Q	-	3	2	KEL	142350489	0.982000	0.34865	0.092000	0.20876	0.013000	0.08279	0.072000	0.14617	0.155000	0.19261	-0.273000	0.10243	CAG		PASS	0.557	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		21	27	21	27	---	---	---	---
KMT2C	58508	broad.mit.edu	37	7	151874332	151874332	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr7:151874332C>G	ENST00000262189.6	-	38	8424	c.8206G>C	c.(8206-8208)Gat>Cat	p.D2736H	KMT2C_ENST00000355193.2_Missense_Mutation_p.D2736H	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2736	Asp-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.D2736H(2)									TCCAAATTATCTAAAGTATCC	0.373																																						uc003wla.2										N							medulloblastoma		2	Substitution - Missense(2)		lung(2)	large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(8206-8208)GAT>CAT		myeloid/lymphoid or mixed-lineage leukemia 3							72.0	73.0	73.0					7																	151874332		2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151874332C>G	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.8206G>C	7.37:g.151874332C>G	ENSP00000262189:p.Asp2736His					MLL3_uc003wkz.2_Missense_Mutation_p.D1797H|MLL3_uc003wky.2_Missense_Mutation_p.D245H	p.D2736H	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	38	8425	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	2736			Asp-rich.		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.8206G>C	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.17|13.17	2.157744|2.157744	0.38119|0.38119	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193|ENST00000360104	D;D|.	0.87650|.	-2.28;-2.25|.	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	0.726048|.	0.11530|.	N|.	0.554754|.	T|T	0.73032|0.73032	0.3535|0.3535	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	D;D;D|.	0.64830|.	0.994;0.985;0.969|.	P;P;P|.	0.55161|.	0.733;0.77;0.614|.	T|T	0.69971|0.69971	-0.5000|-0.5000	10|5	0.72032|.	D|.	0.01|.	.|.	19.4777|19.4777	0.94995|0.94995	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2736;1797;2736|.	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3|.	MLL3_HUMAN;.;.|.	H|T	2736|241	ENSP00000262189:D2736H;ENSP00000347325:D2736H|.	ENSP00000262189:D2736H|.	D|R	-|-	1|2	0|0	MLL3|MLL3	151505265|151505265	1.000000|1.000000	0.71417|0.71417	0.576000|0.576000	0.28549|0.28549	0.991000|0.991000	0.79684|0.79684	3.970000|3.970000	0.56824|0.56824	2.592000|2.592000	0.87571|0.87571	0.650000|0.650000	0.86243|0.86243	GAT|AGA		PASS	0.373	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			6	155	6	155	---	---	---	---
SNTG1	54212	broad.mit.edu	37	8	51621485	51621485	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr8:51621485G>T	ENST00000522124.1	+	17	1892	c.1231G>T	c.(1231-1233)Gga>Tga	p.G411*	SNTG1_ENST00000517473.1_Nonsense_Mutation_p.G411*|SNTG1_ENST00000518864.1_Nonsense_Mutation_p.G411*|SNTG1_ENST00000276467.5_Nonsense_Mutation_p.G411*	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	411					cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)	p.G411*(2)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TCATCTAATGGGACTCACAAT	0.358																																						uc010lxy.1																			2	Substitution - Nonsense(2)		lung(2)	ovary(5)	5						c.(1231-1233)GGA>TGA		syntrophin, gamma 1							203.0	171.0	182.0					8																	51621485		2203	4300	6503	SO:0001587	stop_gained	54212				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	g.chr8:51621485G>T	AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.1231G>T	8.37:g.51621485G>T	ENSP00000429842:p.Gly411*					SNTG1_uc003xqs.1_Nonsense_Mutation_p.G411*|SNTG1_uc010lxz.1_Nonsense_Mutation_p.G411*|SNTG1_uc011ldl.1_RNA	p.G411*	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN			18	1602	+		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)	411					Q2M3Q0|Q9NY98	Nonsense_Mutation	SNP	ENST00000522124.1	37	c.1231G>T	CCDS6147.1	.	.	.	.	.	.	.	.	.	.	G	38	7.053715	0.98032	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	.	18.5616	0.91102	0.0:0.0:1.0:0.0	.	.	.	.	X	411	.	ENSP00000276467:G411X	G	+	1	0	SNTG1	51784038	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	8.787000	0.91830	2.613000	0.88420	0.650000	0.86243	GGA		PASS	0.358	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1			5	180	5	180	---	---	---	---
NCOA2	10499	broad.mit.edu	37	8	71075761	71075761	+	Silent	SNP	G	G	T			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr8:71075761G>T	ENST00000452400.2	-	8	952	c.771C>A	c.(769-771)ccC>ccA	p.P257P		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	257					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)	p.P257P(1)	PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TTTCCTTCATGGGAACTCTTC	0.398			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																	uc003xyn.1				Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	RUNXBP2		AML	PAX3/NCOA2(4)	1	Substitution - coding silent(1)		lung(1)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16						c.(769-771)CCC>CCA		nuclear receptor coactivator 2							95.0	91.0	92.0					8																	71075761		1893	4118	6011	SO:0001819	synonymous_variant	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71075761G>T	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.771C>A	8.37:g.71075761G>T							p.P257P	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		8	933	-	Breast(64;0.201)		257					Q14CD2	Silent	SNP	ENST00000452400.2	37	c.771C>A	CCDS47872.1																																																																																				PASS	0.398	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			14	53	14	53	---	---	---	---
CA3	761	broad.mit.edu	37	8	86356323	86356323	+	Missense_Mutation	SNP	G	G	T	rs557237110		TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr8:86356323G>T	ENST00000285381.2	+	4	495	c.412G>T	c.(412-414)Gat>Tat	p.D138Y	RP11-317J10.2_ENST00000517697.1_RNA|RP11-317J10.2_ENST00000521761.1_RNA	NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN	carbonic anhydrase III, muscle specific	138					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|response to ethanol (GO:0045471)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	carbonate dehydratase activity (GO:0004089)|nickel cation binding (GO:0016151)|zinc ion binding (GO:0008270)	p.D138Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23					Acetazolamide(DB00819)|Zonisamide(DB00909)	GAAGCAGCGCGATGGGATCGC	0.383													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17223	0.0		0.0	False		,,,				2504	0.0					uc003ydj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(412-414)GAT>TAT		carbonic anhydrase III							70.0	69.0	70.0					8																	86356323		2203	4300	6503	SO:0001583	missense	761				one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding	g.chr8:86356323G>T	AJ006473	CCDS6238.1	8q21.2	2012-10-02					4.2.1.1	"""Carbonic anhydrases"""	1374	protein-coding gene	gene with protein product		114750				6221502	Standard	NM_005181		Approved	Car3, CAIII	uc003ydj.3	P07451		ENST00000285381.2:c.412G>T	8.37:g.86356323G>T	ENSP00000285381:p.Asp138Tyr					CA3_uc011lfv.1_RNA	p.D138Y	NM_005181	NP_005172	P07451	CAH3_HUMAN			4	495	+			138					B2R867|B3KUC8|O60842	Missense_Mutation	SNP	ENST00000285381.2	37	c.412G>T	CCDS6238.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675497	0.88445	.	.	ENSG00000164879	ENST00000285381;ENST00000426378	T	0.72725	-0.68	6.17	6.17	0.99709	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.85682	D	0.000000	D	0.91533	0.7326	H	0.98721	4.31	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93996	0.7271	10	0.87932	D	0	-26.3803	19.8676	0.96824	0.0:0.0:1.0:0.0	.	138	P07451	CAH3_HUMAN	Y	138;122	ENSP00000285381:D138Y	ENSP00000285381:D138Y	D	+	1	0	CA3	86543575	1.000000	0.71417	0.966000	0.40874	0.832000	0.47134	8.515000	0.90548	2.941000	0.99782	0.655000	0.94253	GAT		PASS	0.383	CA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381090.1	NM_005181		35	49	35	49	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113392599	113392599	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr8:113392599A>G	ENST00000297405.5	-	38	6362	c.6118T>C	c.(6118-6120)Ttt>Ctt	p.F2040L	CSMD3_ENST00000455883.2_Missense_Mutation_p.F1936L|CSMD3_ENST00000343508.3_Missense_Mutation_p.F2000L|CSMD3_ENST00000352409.3_Missense_Mutation_p.F1970L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2040	CUB 11. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F2000L(1)|p.F2040L(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCAAGATGAAATCCTGCAGCA	0.274										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - Missense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(6118-6120)TTT>CTT		CUB and Sushi multiple domains 3 isoform 1							105.0	111.0	109.0					8																	113392599		2203	4297	6500	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113392599A>G	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.6118T>C	8.37:g.113392599A>G	ENSP00000297405:p.Phe2040Leu	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.F1242L|CSMD3_uc003ynt.2_Missense_Mutation_p.F2000L|CSMD3_uc011lhx.1_Missense_Mutation_p.F1936L	p.F2040L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			38	6277	-			2040			Extracellular (Potential).|CUB 11.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.6118T>C	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	29.3	4.993084	0.93167	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22	5.64	5.64	0.86602	CUB (5);	0.000000	0.64402	D	0.000001	D	0.86539	0.5957	H	0.94808	3.585	0.58432	D	0.999991	D;P;D	0.76494	0.994;0.596;0.999	D;P;D	0.87578	0.992;0.905;0.998	D	0.89561	0.3806	10	0.52906	T	0.07	.	15.5045	0.75728	1.0:0.0:0.0:0.0	.	1936;2040;2000	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	L	2000;2040;1310;1936;1970	ENSP00000345799:F2000L;ENSP00000297405:F2040L;ENSP00000341558:F1310L;ENSP00000412263:F1936L;ENSP00000343124:F1970L	ENSP00000297405:F2040L	F	-	1	0	CSMD3	113461775	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.901000	0.92560	2.144000	0.66660	0.482000	0.46254	TTT		PASS	0.274	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		3	184	3	184	---	---	---	---
TRPS1	7227	broad.mit.edu	37	8	116616272	116616272	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr8:116616272G>T	ENST00000220888.5	-	3	2044	c.1885C>A	c.(1885-1887)Ctc>Atc	p.L629I	TRPS1_ENST00000519076.1_Missense_Mutation_p.L383I|TRPS1_ENST00000520276.1_Missense_Mutation_p.L633I|TRPS1_ENST00000519674.1_Missense_Mutation_p.L629I|TRPS1_ENST00000395715.3_Missense_Mutation_p.L642I			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	629					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.L642I(1)|p.L629I(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TGAAAGAGGAGTACATCTACG	0.512									Langer-Giedion syndrome																													uc003ynz.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7						c.(1885-1887)CTC>ATC		zinc finger transcription factor TRPS1							87.0	84.0	85.0					8																	116616272		2052	4202	6254	SO:0001583	missense	7227	Langer-Giedion_syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116616272G>T	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.1885C>A	8.37:g.116616272G>T	ENSP00000220888:p.Leu629Ile					TRPS1_uc011lhy.1_Missense_Mutation_p.L633I|TRPS1_uc003yny.2_Missense_Mutation_p.L642I|TRPS1_uc010mcy.2_Missense_Mutation_p.L629I	p.L629I	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		3	2344	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		629			C2H2-type 3; atypical.		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.1885C>A		.	.	.	.	.	.	.	.	.	.	G	14.26	2.483833	0.44147	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674	T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95	5.77	5.77	0.91146	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.38799	0.1054	L	0.29908	0.895	0.47621	D	0.999473	D;D;D	0.71674	0.998;0.997;0.998	D;D;D	0.83275	0.996;0.991;0.996	T	0.11446	-1.0587	10	0.87932	D	0	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	633;629;642	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	I	642;629;383;633;629	ENSP00000379065:L642I;ENSP00000220888:L629I;ENSP00000428910:L383I;ENSP00000428680:L633I;ENSP00000429174:L629I	ENSP00000220888:L629I	L	-	1	0	TRPS1	116685447	1.000000	0.71417	1.000000	0.80357	0.138000	0.21146	7.322000	0.79097	2.885000	0.99019	0.655000	0.94253	CTC		PASS	0.512	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		3	88	3	88	---	---	---	---
TRPS1	7227	broad.mit.edu	37	8	116632234	116632234	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr8:116632234C>A	ENST00000220888.5	-	2	211	c.52G>T	c.(52-54)Ggc>Tgc	p.G18C	TRPS1_ENST00000519076.1_Missense_Mutation_p.G18C|TRPS1_ENST00000520276.1_Missense_Mutation_p.G22C|TRPS1_ENST00000519674.1_Missense_Mutation_p.G18C|TRPS1_ENST00000395715.3_Missense_Mutation_p.G31C			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	18					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.G31C(1)|p.G18C(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			AGGATCTGGCCCTCGCCTTCA	0.438									Langer-Giedion syndrome																													uc003ynz.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7						c.(52-54)GGC>TGC		zinc finger transcription factor TRPS1							87.0	80.0	82.0					8																	116632234		1845	4097	5942	SO:0001583	missense	7227	Langer-Giedion_syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116632234C>A	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.52G>T	8.37:g.116632234C>A	ENSP00000220888:p.Gly18Cys					TRPS1_uc011lhy.1_Missense_Mutation_p.G22C|TRPS1_uc003yny.2_Missense_Mutation_p.G31C|TRPS1_uc010mcy.2_Missense_Mutation_p.G18C	p.G18C	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		2	511	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		18					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.52G>T		.	.	.	.	.	.	.	.	.	.	C	15.33	2.801974	0.50315	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674;ENST00000395713;ENST00000519815;ENST00000422939	D;D;D;D;T	0.98633	-5.04;-5.01;-4.93;-5.01;0.8	5.82	5.82	0.92795	.	0.174724	0.39274	N	0.001401	D	0.95717	0.8607	N	0.08118	0	0.42587	D	0.993231	B;B;B	0.31351	0.32;0.214;0.32	B;B;B	0.38056	0.264;0.135;0.176	D	0.94775	0.7948	10	0.56958	D	0.05	-9.3373	14.2719	0.66157	0.0:0.9293:0.0:0.0707	.	22;18;31	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	C	31;18;18;22;18;31;31;31	ENSP00000379065:G31C;ENSP00000220888:G18C;ENSP00000428910:G18C;ENSP00000428680:G22C;ENSP00000429174:G18C	ENSP00000220888:G18C	G	-	1	0	TRPS1	116701409	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.260000	0.65490	2.751000	0.94390	0.650000	0.86243	GGC		PASS	0.438	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		67	59	67	59	---	---	---	---
TG	7038	broad.mit.edu	37	8	134030218	134030218	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr8:134030218G>T	ENST00000220616.4	+	38	6798	c.6758G>T	c.(6757-6759)gGc>gTc	p.G2253V	TG_ENST00000542445.1_Missense_Mutation_p.G623V|TG_ENST00000519543.1_Missense_Mutation_p.G386V|TG_ENST00000377869.1_Missense_Mutation_p.G2196V	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2253					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.G2253V(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AACTGGACAGGCTCCTGGGAT	0.542																																						uc003ytw.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(6757-6759)GGC>GTC		thyroglobulin precursor							34.0	32.0	33.0					8																	134030218		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:134030218G>T	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.6758G>T	8.37:g.134030218G>T	ENSP00000220616:p.Gly2253Val					TG_uc010mdw.2_Missense_Mutation_p.G1012V|TG_uc011ljb.1_Missense_Mutation_p.G622V|TG_uc011ljc.1_Missense_Mutation_p.G386V	p.G2253V	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	38	6799	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	2253					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.6758G>T	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.4|22.4	4.286482|4.286482	0.80803|0.80803	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543|ENST00000519178	T;T;T;T|.	0.65916|.	-0.18;-0.18;-0.18;-0.18|.	5.38|5.38	5.38|5.38	0.77491|0.77491	Carboxylesterase, type B (1);|.	0.374874|.	0.27986|.	N|.	0.017043|.	D|D	0.86264|0.86264	0.5891|0.5891	H|H	0.94183|0.94183	3.505|3.505	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.999;1.0|.	D;D;D|.	0.80764|.	0.991;0.994;0.993|.	D|D	0.89311|0.89311	0.3633|0.3633	10|5	0.87932|.	D|.	0|.	.|.	14.5119|14.5119	0.67794|0.67794	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	386;623;2253|.	E7EVM0;F5GWW5;P01266|.	.;.;THYG_HUMAN|.	V|S	2196;1059;2253;623;386|708	ENSP00000367100:G2196V;ENSP00000220616:G2253V;ENSP00000441693:G623V;ENSP00000430430:G386V|.	ENSP00000220616:G2253V|.	G|R	+|+	2|3	0|2	TG|TG	134099400|134099400	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.988000|0.988000	0.76386|0.76386	3.781000|3.781000	0.55394|0.55394	2.802000|2.802000	0.96397|0.96397	0.655000|0.655000	0.94253|0.94253	GGC|AGG		PASS	0.542	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		45	63	45	63	---	---	---	---
PLEC	5339	broad.mit.edu	37	8	145006714	145006714	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr8:145006714G>A	ENST00000322810.4	-	16	2411	c.2242C>T	c.(2242-2244)Cgc>Tgc	p.R748C	PLEC_ENST00000356346.3_Missense_Mutation_p.R597C|PLEC_ENST00000354958.2_Missense_Mutation_p.R589C|PLEC_ENST00000354589.3_Missense_Mutation_p.R611C|PLEC_ENST00000527096.1_Missense_Mutation_p.R634C|PLEC_ENST00000398774.2_Missense_Mutation_p.R579C|PLEC_ENST00000357649.2_Missense_Mutation_p.R615C|PLEC_ENST00000345136.3_Missense_Mutation_p.R611C|PLEC_ENST00000436759.2_Missense_Mutation_p.R638C	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	748	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)	p.R611C(1)|p.R748C(1)|p.R638C(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GACCTGAGGCGGGCCTTGGAG	0.657																																						uc003zaf.1																			3	Substitution - Missense(3)		lung(3)	large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(2242-2244)CGC>TGC		plectin isoform 1							45.0	52.0	50.0					8																	145006714		1981	4143	6124	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:145006714G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.2242C>T	8.37:g.145006714G>A	ENSP00000323856:p.Arg748Cys					PLEC_uc003zab.1_Missense_Mutation_p.R611C|PLEC_uc003zac.1_Missense_Mutation_p.R615C|PLEC_uc003zad.2_Missense_Mutation_p.R611C|PLEC_uc003zae.1_Missense_Mutation_p.R579C|PLEC_uc003zag.1_Missense_Mutation_p.R589C|PLEC_uc003zah.2_Missense_Mutation_p.R597C|PLEC_uc003zaj.2_Missense_Mutation_p.R638C	p.R748C	NM_201380	NP_958782	Q15149	PLEC_HUMAN			16	2412	-			748			Spectrin 2.|Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.2242C>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.930956	0.34096	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096;ENST00000528025	T;T;T;T;T;T;T;T;T;D	0.96334	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-3.98	4.6	3.71	0.42584	.	0.000000	0.64402	U	0.000005	D	0.97838	0.9290	M	0.84773	2.715	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.85130	0.997;0.997;0.997;0.994;0.997;0.997;0.997;0.997	D	0.97902	1.0303	10	0.87932	D	0	.	11.3503	0.49583	0.0925:0.0:0.9075:0.0	.	638;597;589;748;579;611;615;611	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	C	611;615;611;579;748;589;597;638;634;655	ENSP00000344848:R611C;ENSP00000350277:R615C;ENSP00000346602:R611C;ENSP00000381756:R579C;ENSP00000323856:R748C;ENSP00000347044:R589C;ENSP00000348702:R597C;ENSP00000388180:R638C;ENSP00000434583:R634C;ENSP00000437303:R655C	ENSP00000323856:R748C	R	-	1	0	PLEC	145078702	1.000000	0.71417	1.000000	0.80357	0.558000	0.35554	6.203000	0.72137	2.271000	0.75665	0.453000	0.30009	CGC		PASS	0.657	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		3	109	3	109	---	---	---	---
PLGRKT	55848	broad.mit.edu	37	9	5358283	5358283	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr9:5358283C>T	ENST00000223864.2	-	6	621	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K		NM_018465.3	NP_060935.2	Q9HBL7	PLRKT_HUMAN	plasminogen receptor, C-terminal lysine transmembrane protein	134					chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of plasminogen activation (GO:0010756)	integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)		p.E134K(1)									CTGGCTTTTTCAATGCTTTCA	0.348																																						uc003zjc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(400-402)GAA>AAA		hypothetical protein LOC55848							147.0	134.0	138.0					9																	5358283		2203	4300	6503	SO:0001583	missense	55848					integral to membrane		g.chr9:5358283C>T	AF225420	CCDS6463.1	9p24.1	2012-04-12	2012-04-12	2012-04-12	ENSG00000107020	ENSG00000107020			23633	protein-coding gene	gene with protein product	"""uncharacterized hematopoietic stem/progenitor cells protein MDS030"", ""plasminogen receptor with a C-terminal lysine"""		"""chromosome 9 open reading frame 46"""	C9orf46		12477932	Standard	NM_018465		Approved	MDS030, FLJ14688, AD025, Plg-RKT	uc003zjc.3	Q9HBL7	OTTHUMG00000019501	ENST00000223864.2:c.400G>A	9.37:g.5358283C>T	ENSP00000223864:p.Glu134Lys					C9orf46_uc003zjd.2_Missense_Mutation_p.E134K	p.E134K	NM_018465	NP_060935	Q9HBL7	CI046_HUMAN		GBM - Glioblastoma multiforme(50;0.00106)|Lung(218;0.125)	6	604	-	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)	134					B2R6W0|Q9NZ44	Missense_Mutation	SNP	ENST00000223864.2	37	c.400G>A	CCDS6463.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.453862	0.84209	.	.	ENSG00000107020	ENST00000223864	.	.	.	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.80248	0.4588	M	0.84433	2.695	0.58432	D	0.999993	D	0.76494	0.999	D	0.75020	0.985	D	0.83541	0.0096	9	0.72032	D	0.01	.	14.1018	0.65062	0.151:0.849:0.0:0.0	.	134	Q9HBL7	CI046_HUMAN	K	134	.	ENSP00000223864:E134K	E	-	1	0	C9orf46	5348283	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.858000	0.55979	2.328000	0.79073	0.557000	0.71058	GAA		PASS	0.348	PLGRKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051626.1	NM_018465		23	61	23	61	---	---	---	---
RPS6	6194	broad.mit.edu	37	9	19378869	19378869	+	Silent	SNP	G	G	A			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr9:19378869G>A	ENST00000380394.4	-	3	244	c.186C>T	c.(184-186)ccC>ccT	p.P62P	RPS6_ENST00000498815.1_5'Flank|RP11-513M16.8_ENST00000609982.1_RNA|RPS6_ENST00000380384.1_Silent_p.P31P|RPS6_ENST00000315377.4_Silent_p.P31P|RPS6_ENST00000380381.3_3'UTR	NM_001010.2	NP_001001.2	P62753	RS6_HUMAN	ribosomal protein S6	62					activation-induced cell death of T cells (GO:0006924)|cellular protein metabolic process (GO:0044267)|erythrocyte development (GO:0048821)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|oogenesis stage (GO:0022605)|placenta development (GO:0001890)|positive regulation of apoptotic process (GO:0043065)|ribosomal small subunit assembly (GO:0000028)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|T cell differentiation in thymus (GO:0033077)|T cell proliferation involved in immune response (GO:0002309)|TOR signaling (GO:0031929)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|dendrite (GO:0030425)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural constituent of ribosome (GO:0003735)	p.P62P(1)		endometrium(3)|lung(2)|ovary(1)|urinary_tract(1)	7		Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255)		Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234)		CCTGCTTCATGGGGAAACCTT	0.448																																						uc003znv.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(184-186)CCC>CCT		ribosomal protein S6							39.0	35.0	36.0					9																	19378869		2203	4300	6503	SO:0001819	synonymous_variant	6194				endocrine pancreas development|glucose homeostasis|insulin receptor signaling pathway|positive regulation of apoptosis|rRNA processing|TOR signaling cascade|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding	g.chr9:19378869G>A		CCDS6492.1	9p21	2011-04-05			ENSG00000137154	ENSG00000137154		"""S ribosomal proteins"""	10429	protein-coding gene	gene with protein product	"""40S ribosomal protein S6"", ""phosphoprotein NP33"""	180460				1577483	Standard	NM_001010		Approved	S6	uc003znv.1	P62753	OTTHUMG00000019642	ENST00000380394.4:c.186C>T	9.37:g.19378869G>A						RPS6_uc003znu.1_Silent_p.P31P|RPS6_uc003znw.1_Silent_p.P31P	p.P62P	NM_001010	NP_001001	P62753	RS6_HUMAN		Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234)	3	228	-		Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255)	62					P08227|P10660|Q4VBY7|Q8N6Z7	Silent	SNP	ENST00000380394.4	37	c.186C>T	CCDS6492.1																																																																																				PASS	0.448	RPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051858.1	NM_001010		23	33	23	33	---	---	---	---
LINGO2	158038	broad.mit.edu	37	9	27949217	27949217	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr9:27949217C>A	ENST00000379992.2	-	6	1902	c.1453G>T	c.(1453-1455)Gct>Tct	p.A485S	LINGO2_ENST00000308675.3_Missense_Mutation_p.A485S	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	485	Ig-like C2-type.					integral component of membrane (GO:0016021)		p.A485S(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GCATTGCTAGCGATGCAAACA	0.493																																						uc003zqu.1																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(1453-1455)GCT>TCT		leucine rich repeat and Ig domain containing 2							102.0	98.0	99.0					9																	27949217		2203	4300	6503	SO:0001583	missense	158038					integral to membrane		g.chr9:27949217C>A	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.1453G>T	9.37:g.27949217C>A	ENSP00000369328:p.Ala485Ser					LINGO2_uc010mjf.1_Missense_Mutation_p.A485S|LINGO2_uc003zqv.1_Missense_Mutation_p.A485S	p.A485S	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	2	1647	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	485			Ig-like C2-type.|Extracellular (Potential).		A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	ENST00000379992.2	37	c.1453G>T	CCDS6524.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.794069	0.50102	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.76578	-1.03;-1.03	5.83	5.83	0.93111	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.90535	0.7034	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90792	0.4687	9	.	.	.	.	20.1184	0.97949	0.0:1.0:0.0:0.0	.	485	Q7L985	LIGO2_HUMAN	S	485	ENSP00000369328:A485S;ENSP00000310126:A485S	.	A	-	1	0	LINGO2	27939217	1.000000	0.71417	0.910000	0.35882	0.249000	0.25844	7.818000	0.86416	2.769000	0.95229	0.655000	0.94253	GCT		PASS	0.493	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		3	115	3	115	---	---	---	---
FCN1	2219	broad.mit.edu	37	9	137809662	137809662	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr9:137809662A>G	ENST00000371806.3	-	1	147	c.56T>C	c.(55-57)tTc>tCc	p.F19S		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	19					cell surface pattern recognition receptor signaling pathway (GO:0002752)|complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of interleukin-8 secretion (GO:2000484)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extrinsic component of external side of plasma membrane (GO:0031232)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|G-protein coupled receptor binding (GO:0001664)|signaling pattern recognition receptor activity (GO:0008329)	p.F19S(1)		endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		GATATGCAGGAACAAGACTAG	0.577																																						uc004cfi.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(55-57)TTC>TCC		ficolin 1 precursor							95.0	91.0	92.0					9																	137809662		2203	4300	6503	SO:0001583	missense	2219				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding	g.chr9:137809662A>G	D83920	CCDS6985.1	9q34	2013-02-06	2002-01-14		ENSG00000085265	ENSG00000085265		"""Fibrinogen C domain containing"""	3623	protein-coding gene	gene with protein product		601252	"""ficolin (collagen/fibrinogen domain-containing) 1"""			8573080, 8884275	Standard	NM_002003		Approved	FCNM	uc004cfi.3	O00602	OTTHUMG00000020895	ENST00000371806.3:c.56T>C	9.37:g.137809662A>G	ENSP00000360871:p.Phe19Ser						p.F19S	NM_002003	NP_001994	O00602	FCN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)	1	148	-		Myeloproliferative disorder(178;0.0333)	19					Q5VYV5|Q92596	Missense_Mutation	SNP	ENST00000371806.3	37	c.56T>C	CCDS6985.1	.	.	.	.	.	.	.	.	.	.	A	10.92	1.487352	0.26686	.	.	ENSG00000085265	ENST00000371807;ENST00000371806;ENST00000308299	D	0.82893	-1.66	4.24	-2.23	0.06930	.	.	.	.	.	T	0.71341	0.3328	L	0.42245	1.32	0.09310	N	1	B	0.12630	0.006	B	0.11329	0.006	T	0.55503	-0.8131	9	0.35671	T	0.21	.	4.1875	0.10405	0.3599:0.3558:0.2843:0.0	.	19	O00602	FCN1_HUMAN	S	19	ENSP00000360871:F19S	ENSP00000308877:F19S	F	-	2	0	FCN1	136949483	0.002000	0.14202	0.001000	0.08648	0.068000	0.16541	-0.233000	0.09041	-0.349000	0.08274	0.472000	0.43445	TTC		PASS	0.577	FCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054963.1	NM_002003		17	99	17	99	---	---	---	---
SLC34A3	142680	broad.mit.edu	37	9	140130626	140130626	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr9:140130626C>A	ENST00000538474.1	+	13	1782	c.1558C>A	c.(1558-1560)Ccc>Acc	p.P520T	SLC34A3_ENST00000361134.2_Missense_Mutation_p.P520T	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	520					cellular phosphate ion homeostasis (GO:0030643)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)	p.P520T(1)		kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TGTCGGGGGTCCCCTGGTGGG	0.731											OREG0019630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004cmf.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1558-1560)CCC>ACC		solute carrier family 34 (sodium phosphate),							16.0	13.0	14.0					9																	140130626		2129	4208	6337	SO:0001583	missense	142680				cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr9:140130626C>A	AB055000	CCDS7038.1	9q34.3	2013-07-17	2013-07-17		ENSG00000198569	ENSG00000198569		"""Solute carriers"""	20305	protein-coding gene	gene with protein product		609826	"""solute carrier family 34 (sodium phosphate), member 3"""			11880379, 16358215, 16358214	Standard	NM_080877		Approved	NPTIIc, FLJ38680	uc004cmf.1	Q8N130	OTTHUMG00000131780	ENST00000538474.1:c.1558C>A	9.37:g.140130626C>A	ENSP00000442397:p.Pro520Thr		OREG0019630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1654	SLC34A3_uc011met.1_Missense_Mutation_p.P520T	p.P520T	NM_080877	NP_543153	Q8N130	NPT2C_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	13	1744	+	all_cancers(76;0.0926)		520			Helical; Name=M8; (Potential).		A2BFA1	Missense_Mutation	SNP	ENST00000538474.1	37	c.1558C>A	CCDS7038.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.544779	0.45280	.	.	ENSG00000198569	ENST00000538474;ENST00000361134	T;T	0.33216	1.42;1.42	4.24	3.28	0.37604	.	0.104631	0.40818	N	0.001015	T	0.50871	0.1641	M	0.85542	2.76	0.44702	D	0.997697	D	0.65815	0.995	P	0.58970	0.849	T	0.55010	-0.8207	10	0.56958	D	0.05	-27.544	9.3195	0.37955	0.0:0.8829:0.0:0.1171	.	520	Q8N130	NPT2C_HUMAN	T	520	ENSP00000442397:P520T;ENSP00000355353:P520T	ENSP00000355353:P520T	P	+	1	0	SLC34A3	139250447	0.926000	0.31397	0.973000	0.42090	0.057000	0.15508	3.426000	0.52778	1.048000	0.40298	-0.424000	0.05967	CCC		PASS	0.731	SLC34A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254712.1	NM_080877		7	10	7	10	---	---	---	---
KIAA1217	56243	broad.mit.edu	37	10	24833113	24833113	+	Silent	SNP	G	G	A			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr10:24833113G>A	ENST00000376454.3	+	19	4944	c.4914G>A	c.(4912-4914)gtG>gtA	p.V1638V	KIAA1217_ENST00000376451.2_Silent_p.V1321V|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000376462.1_Intron	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1638					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)		p.V1638V(1)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AAAACACAGTGAGGAGGCAAG	0.473																																						uc001iru.3																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(2)	7						c.(4912-4914)GTG>GTA		sickle tail isoform 1							98.0	96.0	97.0					10																	24833113		2203	4300	6503	SO:0001819	synonymous_variant	56243				embryonic skeletal system development	cytoplasm		g.chr10:24833113G>A	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.4914G>A	10.37:g.24833113G>A						KIAA1217_uc001irs.2_Intron|KIAA1217_uc001irt.3_Intron|KIAA1217_uc010qcy.1_Intron|KIAA1217_uc010qcz.1_Intron|KIAA1217_uc001irw.2_Intron|KIAA1217_uc001irz.2_Intron|KIAA1217_uc001irx.2_Silent_p.V1321V|KIAA1217_uc001iry.2_Intron|KIAA1217_uc001isa.1_Silent_p.V474V	p.V1638V	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN			19	5317	+			1638					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Silent	SNP	ENST00000376454.3	37	c.4914G>A	CCDS31165.1																																																																																				PASS	0.473	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		24	102	24	102	---	---	---	---
MYPN	84665	broad.mit.edu	37	10	69935090	69935090	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr10:69935090G>A	ENST00000358913.5	+	12	3063	c.2575G>A	c.(2575-2577)Gga>Aga	p.G859R	MYPN_ENST00000354393.2_Missense_Mutation_p.G584R|MYPN_ENST00000540630.1_Missense_Mutation_p.G859R	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	859					sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)	p.G859R(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GCCATCCCAGGGATTAGCGAA	0.423																																						uc001jnm.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(2575-2577)GGA>AGA		myopalladin							72.0	68.0	69.0					10																	69935090		2203	4300	6503	SO:0001583	missense	84665					nucleus|sarcomere	actin binding	g.chr10:69935090G>A	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.2575G>A	10.37:g.69935090G>A	ENSP00000351790:p.Gly859Arg					MYPN_uc001jnn.3_Missense_Mutation_p.G584R|MYPN_uc001jno.3_Missense_Mutation_p.G859R|MYPN_uc009xpt.2_Missense_Mutation_p.G859R|MYPN_uc010qit.1_Missense_Mutation_p.G565R|MYPN_uc010qiu.1_Intron	p.G859R	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN			13	2760	+			859					Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	37	c.2575G>A	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.683842	0.88639	.	.	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630	T;T;T	0.67345	-0.26;-0.18;-0.2	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.82079	0.4959	M	0.71036	2.16	0.46078	D	0.99885	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.975	T	0.79662	-0.1710	9	.	.	.	.	20.1777	0.98189	0.0:0.0:1.0:0.0	.	859;584;859	F5GWA6;Q86TC9-2;Q86TC9	.;.;MYPN_HUMAN	R	584;584;859;859	ENSP00000346369:G584R;ENSP00000351790:G859R;ENSP00000441668:G859R	.	G	+	1	0	MYPN	69605096	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.879000	0.63100	2.941000	0.99782	0.655000	0.94253	GGA		PASS	0.423	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		14	66	14	66	---	---	---	---
HKDC1	80201	broad.mit.edu	37	10	71005859	71005859	+	Silent	SNP	G	G	T			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr10:71005859G>T	ENST00000354624.5	+	8	1033	c.900G>T	c.(898-900)ctG>ctT	p.L300L	HKDC1_ENST00000395086.2_Silent_p.L300L	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	300	Hexokinase type-2 1.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)	p.L300L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						TCAGTGGCCTGTACCTGGGGG	0.532																																						uc001jpf.3																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(1)	5						c.(898-900)CTG>CTT		hexokinase domain containing 1							111.0	103.0	106.0					10																	71005859		2203	4300	6503	SO:0001819	synonymous_variant	80201				glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity	g.chr10:71005859G>T		CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.900G>T	10.37:g.71005859G>T						HKDC1_uc010qje.1_Silent_p.L163L	p.L300L	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN			8	1033	+			300					B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Silent	SNP	ENST00000354624.5	37	c.900G>T	CCDS7288.1																																																																																				PASS	0.532	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	NM_025130		61	104	61	104	---	---	---	---
SLC35G1	159371	broad.mit.edu	37	10	95660692	95660692	+	Silent	SNP	A	A	G			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr10:95660692A>G	ENST00000427197.1	+	3	604	c.543A>G	c.(541-543)aaA>aaG	p.K181K	SLC35G1_ENST00000371408.3_Silent_p.K180K	NM_001134658.1|NM_153226.2	NP_001128130.1|NP_694958.1	Q2M3R5	S35G1_HUMAN	solute carrier family 35, member G1	181	EamA 1.				calcium ion export from cell (GO:1990034)|cytosolic calcium ion homeostasis (GO:0051480)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.K180K(1)									TCAAGGAAAAATATAGCCCTT	0.453																																						uc001kjg.1																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(541-543)AAA>AAG		transmembrane protein 20 isoform 1							141.0	122.0	129.0					10																	95660692		2203	4300	6503	SO:0001819	synonymous_variant	159371					integral to membrane		g.chr10:95660692A>G	AK091309	CCDS7432.1, CCDS44459.1	10q23.33	2013-05-22	2011-08-03	2011-08-03	ENSG00000176273	ENSG00000176273		"""Solute carriers"""	26607	protein-coding gene	gene with protein product			"""transmembrane protein 20"""	TMEM20		21569384	Standard	NM_153226		Approved	FLJ33990, C10orf60	uc001kjg.2	Q2M3R5	OTTHUMG00000018779	ENST00000427197.1:c.543A>G	10.37:g.95660692A>G						TMEM20_uc001kji.2_Intron|TMEM20_uc001kjf.1_Silent_p.K180K|TMEM20_uc001kjh.2_Intron|TMEM20_uc010qnw.1_Silent_p.K164K|TMEM20_uc001kjj.2_Intron	p.K181K	NM_001134658	NP_001128130	Q2M3R5	TMM20_HUMAN		STAD - Stomach adenocarcinoma(243;0.00345)	3	604	+		Colorectal(252;3.46e-05)|Renal(717;0.018)|Ovarian(717;0.0228)|all_hematologic(284;0.189)	181			DUF6 1.		Q86YG5|Q8NBA5	Silent	SNP	ENST00000427197.1	37	c.543A>G	CCDS44459.1																																																																																				PASS	0.453	SLC35G1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_153226		47	122	47	122	---	---	---	---
TACC2	10579	broad.mit.edu	37	10	123970465	123970465	+	Silent	SNP	G	G	A			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr10:123970465G>A	ENST00000369005.1	+	9	6865	c.6525G>A	c.(6523-6525)acG>acA	p.T2175T	TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000453444.2_Silent_p.T2179T|TACC2_ENST00000360561.3_Silent_p.T253T|TACC2_ENST00000260733.3_Silent_p.T253T|TACC2_ENST00000368999.1_Silent_p.T253T|TACC2_ENST00000515273.1_Silent_p.T2179T|TACC2_ENST00000358010.1_Silent_p.T321T|TACC2_ENST00000513429.1_Silent_p.T321T|TACC2_ENST00000369004.3_Silent_p.T253T|TACC2_ENST00000334433.3_Silent_p.T2175T|TACC2_ENST00000515603.1_Silent_p.T2130T|TACC2_ENST00000369001.1_5'UTR	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2175					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)	p.T2175T(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGACGAAAACGGAATCTGCCA	0.587																																						uc001lfv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(6523-6525)ACG>ACA		transforming, acidic coiled-coil containing							82.0	95.0	90.0					10																	123970465		2203	4300	6503	SO:0001819	synonymous_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123970465G>A	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.6525G>A	10.37:g.123970465G>A						TACC2_uc001lfw.2_Silent_p.T321T|TACC2_uc009xzx.2_Silent_p.T2130T|TACC2_uc010qtv.1_Silent_p.T2179T|TACC2_uc001lfx.2_5'UTR|TACC2_uc001lfy.2_5'UTR|TACC2_uc001lfz.2_Silent_p.T253T|TACC2_uc001lga.2_Silent_p.T253T|TACC2_uc009xzy.2_Silent_p.T253T|TACC2_uc001lgb.2_Silent_p.T210T|TACC2_uc010qtw.1_Silent_p.T270T	p.T2175T	NM_206862	NP_996744	O95359	TACC2_HUMAN			9	6885	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	2175					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	37	c.6525G>A	CCDS7626.1																																																																																				PASS	0.587	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			48	145	48	145	---	---	---	---
NLRP14	338323	broad.mit.edu	37	11	7063963	7063963	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr11:7063963G>C	ENST00000299481.4	+	4	1052	c.706G>C	c.(706-708)Gac>Cac	p.D236H		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	236	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)	p.D236H(1)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GATATCAAAGGACTGGCCCAG	0.418																																						uc001mfb.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8						c.(706-708)GAC>CAC		NLR family, pyrin domain containing 14							111.0	118.0	115.0					11																	7063963		2201	4296	6497	SO:0001583	missense	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7063963G>C	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.706G>C	11.37:g.7063963G>C	ENSP00000299481:p.Asp236His						p.D236H	NM_176822	NP_789792	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	4	1029	+			236			NACHT.		Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	c.706G>C	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	G	8.960	0.970338	0.18659	.	.	ENSG00000158077	ENST00000299481	T	0.78364	-1.17	4.56	-0.0806	0.13706	NACHT nucleoside triphosphatase (1);	0.480176	0.17659	N	0.166403	T	0.64789	0.2630	L	0.42686	1.345	0.30560	N	0.764594	B	0.23937	0.094	B	0.27170	0.077	T	0.56878	-0.7906	10	0.38643	T	0.18	.	4.5395	0.12050	0.0882:0.2833:0.4923:0.1361	.	236	Q86W24	NAL14_HUMAN	H	236	ENSP00000299481:D236H	ENSP00000299481:D236H	D	+	1	0	NLRP14	7020539	0.017000	0.18338	0.800000	0.32199	0.610000	0.37248	0.092000	0.15066	0.207000	0.20607	0.650000	0.86243	GAC		PASS	0.418	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		59	110	59	110	---	---	---	---
OR8H3	390152	broad.mit.edu	37	11	55890082	55890082	+	Silent	SNP	C	C	T			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr11:55890082C>T	ENST00000313472.3	+	1	234	c.234C>T	c.(232-234)gtC>gtT	p.V78V		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	78						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V78V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					CAACTGTCGTCACACCTAAAA	0.438																																						uc001nii.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(232-234)GTC>GTT		olfactory receptor, family 8, subfamily H,							281.0	278.0	279.0					11																	55890082		2201	4293	6494	SO:0001819	synonymous_variant	390152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55890082C>T	AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"""GPCR / Class A : Olfactory receptors"""	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.234C>T	11.37:g.55890082C>T							p.V78V	NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN			1	234	+	Esophageal squamous(21;0.00693)		78			Extracellular (Potential).		Q6IFB7	Silent	SNP	ENST00000313472.3	37	c.234C>T	CCDS31519.1																																																																																				PASS	0.438	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		110	761	110	761	---	---	---	---
TNKS1BP1	85456	broad.mit.edu	37	11	57088079	57088079	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr11:57088079G>T	ENST00000532437.1	-	2	513	c.202C>A	c.(202-204)Ccc>Acc	p.P68T	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.P68T			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	68	Arg/Glu/Lys/Pro-rich (charged).				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)	p.P68T(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GGACCCCGGGGAGGCCGAGGC	0.677																																						uc001njr.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(202-204)CCC>ACC		tankyrase 1-binding protein 1							16.0	19.0	18.0					11																	57088079		2199	4292	6491	SO:0001583	missense	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57088079G>T	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.202C>A	11.37:g.57088079G>T	ENSP00000437271:p.Pro68Thr					TNKS1BP1_uc001njs.2_Missense_Mutation_p.P68T|TNKS1BP1_uc009ymd.1_5'UTR	p.P68T	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN			2	514	-		all_epithelial(135;0.21)	68			Arg/Glu/Lys/Pro-rich (charged).		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	c.202C>A	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.089176	0.76756	.	.	ENSG00000149115	ENST00000358252;ENST00000532437;ENST00000527207	T;T	0.42131	0.98;0.98	4.58	4.58	0.56647	.	0.201749	0.24876	N	0.034894	T	0.49915	0.1585	N	0.24115	0.695	0.31298	N	0.688585	D	0.76494	0.999	D	0.74023	0.982	T	0.55617	-0.8113	10	0.54805	T	0.06	-13.7196	15.3181	0.74099	0.0:0.0:1.0:0.0	.	68	Q9C0C2	TB182_HUMAN	T	68	ENSP00000350990:P68T;ENSP00000437271:P68T	ENSP00000350990:P68T	P	-	1	0	TNKS1BP1	56844655	0.985000	0.35326	0.982000	0.44146	0.996000	0.88848	1.660000	0.37397	2.347000	0.79759	0.563000	0.77884	CCC		PASS	0.677	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		10	39	10	39	---	---	---	---
TNKS1BP1	85456	broad.mit.edu	37	11	57088089	57088089	+	Silent	SNP	C	C	A			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr11:57088089C>A	ENST00000532437.1	-	2	503	c.192G>T	c.(190-192)ggG>ggT	p.G64G	TNKS1BP1_ENST00000358252.3_Silent_p.G64G			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	64	Arg/Glu/Lys/Pro-rich (charged).				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)	p.G64G(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GAGGCCGAGGCCCAACAGGCA	0.672																																						uc001njr.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(190-192)GGG>GGT		tankyrase 1-binding protein 1							16.0	19.0	18.0					11																	57088089		2197	4290	6487	SO:0001819	synonymous_variant	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57088089C>A	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.192G>T	11.37:g.57088089C>A						TNKS1BP1_uc001njs.2_Silent_p.G64G|TNKS1BP1_uc009ymd.1_5'UTR	p.G64G	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN			2	504	-		all_epithelial(135;0.21)	64			Arg/Glu/Lys/Pro-rich (charged).		A7E2F8|Q6PJ35|Q6ZV74	Silent	SNP	ENST00000532437.1	37	c.192G>T	CCDS7951.1																																																																																				PASS	0.672	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		10	35	10	35	---	---	---	---
LRP5	4041	broad.mit.edu	37	11	68181283	68181283	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr11:68181283G>A	ENST00000294304.7	+	12	2736	c.2630G>A	c.(2629-2631)cGg>cAg	p.R877Q		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	877	Beta-propeller 3.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.R877Q(1)		autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACTAGCGGCCGGAACCGCACC	0.577																																						uc001ont.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						c.(2629-2631)CGG>CAG		low density lipoprotein receptor-related protein							92.0	80.0	84.0					11																	68181283		2200	4294	6494	SO:0001583	missense	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68181283G>A	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.2630G>A	11.37:g.68181283G>A	ENSP00000294304:p.Arg877Gln					LRP5_uc009ysg.2_Missense_Mutation_p.R287Q	p.R877Q	NM_002335	NP_002326	O75197	LRP5_HUMAN			12	2705	+			877			Beta-propeller 3.|LDL-receptor class B 15.|Extracellular (Potential).		Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	37	c.2630G>A	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	G	5.250	0.231581	0.09969	.	.	ENSG00000162337	ENST00000294304	D	0.95980	-3.87	5.02	-0.326	0.12698	Six-bladed beta-propeller, TolB-like (1);	0.367486	0.18771	U	0.131602	T	0.79082	0.4386	N	0.00611	-1.325	0.27937	N	0.937671	B;B	0.15719	0.014;0.014	B;B	0.12837	0.008;0.008	T	0.73069	-0.4099	10	0.05833	T	0.94	.	9.259	0.37601	0.5624:0.0:0.4376:0.0	.	877;877	Q9UES7;O75197	.;LRP5_HUMAN	Q	877	ENSP00000294304:R877Q	ENSP00000294304:R877Q	R	+	2	0	LRP5	67937859	0.499000	0.26083	0.983000	0.44433	0.955000	0.61496	0.121000	0.15667	0.050000	0.15949	-1.036000	0.02392	CGG		PASS	0.577	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		4	93	4	93	---	---	---	---
PDE2A	5138	broad.mit.edu	37	11	72292489	72292489	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr11:72292489G>T	ENST00000334456.5	-	23	2202	c.1957C>A	c.(1957-1959)Ccc>Acc	p.P653T	PDE2A_ENST00000376450.3_Missense_Mutation_p.P397T|PDE2A_ENST00000444035.2_Missense_Mutation_p.P644T|PDE2A_ENST00000540345.1_Missense_Mutation_p.P644T|PDE2A_ENST00000418754.2_Missense_Mutation_p.P538T|PDE2A_ENST00000544570.1_Missense_Mutation_p.P646T	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	653	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)	p.P653T(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	TGGTAGGGGGGATCCCGGTAG	0.587																																						uc010rrc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|skin(1)	4						c.(1957-1959)CCC>ACC		phosphodiesterase 2A isoform 1	Sildenafil(DB00203)|Sulindac(DB00605)						49.0	47.0	48.0					11																	72292489		2200	4293	6493	SO:0001583	missense	5138				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr11:72292489G>T	U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"""Phosphodiesterases"""	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.1957C>A	11.37:g.72292489G>T	ENSP00000334910:p.Pro653Thr					PDE2A_uc001oso.2_Missense_Mutation_p.P632T|PDE2A_uc010rra.1_Missense_Mutation_p.P646T|PDE2A_uc001osn.2_Missense_Mutation_p.P397T|PDE2A_uc010rrb.1_Missense_Mutation_p.P644T|PDE2A_uc010rrd.1_Missense_Mutation_p.P538T	p.P653T	NM_002599	NP_002590	O00408	PDE2A_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		23	2200	-			653			Catalytic (By similarity).		B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Missense_Mutation	SNP	ENST00000334456.5	37	c.1957C>A	CCDS8216.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003382	0.74932	.	.	ENSG00000186642	ENST00000334456;ENST00000376450;ENST00000444035;ENST00000429363;ENST00000544570;ENST00000418754;ENST00000540345;ENST00000420501;ENST00000441209;ENST00000542223	T;T;T;T;T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;-0.99;-0.99;-0.99;-0.99;-0.99	5.89	5.89	0.94794	Metal-dependent phosphohydrolase, HD domain (1);5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.000000	0.85682	D	0.000000	D	0.82360	0.5020	L	0.40543	1.245	0.80722	D	1	D;P;P;D;P;P	0.89917	1.0;0.569;0.837;1.0;0.569;0.901	D;P;P;D;P;P	0.87578	0.998;0.526;0.581;0.992;0.526;0.526	T	0.82114	-0.0617	10	0.54805	T	0.06	.	18.8141	0.92071	0.0:0.0:1.0:0.0	.	538;653;644;646;653;397	E9PEF1;O00408;E9PGI1;F6W5Z0;B2R646;Q6ZMR1	.;PDE2A_HUMAN;.;.;.;.	T	653;397;644;722;646;538;644;32;194;84	ENSP00000334910:P653T;ENSP00000365633:P397T;ENSP00000411657:P644T;ENSP00000442256:P646T;ENSP00000410310:P538T;ENSP00000446399:P644T;ENSP00000388997:P32T;ENSP00000392457:P194T;ENSP00000440834:P84T	ENSP00000334910:P653T	P	-	1	0	PDE2A	71970137	1.000000	0.71417	0.943000	0.38184	0.886000	0.51366	7.831000	0.86748	2.791000	0.96007	0.591000	0.81541	CCC		PASS	0.587	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219839.2	NM_002599		7	11	7	11	---	---	---	---
NAALAD2	10003	broad.mit.edu	37	11	89911046	89911046	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr11:89911046C>A	ENST00000534061.1	+	16	1849	c.1619C>A	c.(1618-1620)cCa>cAa	p.P540Q	NAALAD2_ENST00000321955.4_Missense_Mutation_p.P507Q|NAALAD2_ENST00000375944.3_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	540	NAALADase.				neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)	p.P540Q(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				AGCAGCTACCCAGTGTACCAC	0.308																																						uc001pdf.3																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(1618-1620)CCA>CAA		N-acetylated alpha-linked acidic dipeptidase 2							74.0	84.0	80.0					11																	89911046		2193	4299	6492	SO:0001583	missense	10003				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	g.chr11:89911046C>A	AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase III"""	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.1619C>A	11.37:g.89911046C>A	ENSP00000432481:p.Pro540Gln					NAALAD2_uc009yvx.2_Missense_Mutation_p.P507Q|NAALAD2_uc009yvy.2_Intron	p.P540Q	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN			16	1728	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	540			Extracellular (Potential).|NAALADase.		B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP	ENST00000534061.1	37	c.1619C>A	CCDS8288.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.630667	0.87660	.	.	ENSG00000077616	ENST00000534061;ENST00000321955	T;T	0.46819	0.86;0.86	5.63	5.63	0.86233	Peptidase M28 (1);	0.000000	0.85682	D	0.000000	T	0.78432	0.4282	M	0.93594	3.435	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83591	0.0123	9	.	.	.	-14.0267	19.7611	0.96319	0.0:1.0:0.0:0.0	.	540	Q9Y3Q0	NALD2_HUMAN	Q	540;507	ENSP00000432481:P540Q;ENSP00000320083:P507Q	.	P	+	2	0	NAALAD2	89550694	1.000000	0.71417	0.986000	0.45419	0.988000	0.76386	7.277000	0.78572	2.665000	0.90641	0.644000	0.83932	CCA		PASS	0.308	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	NM_005467		56	169	56	169	---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92624033	92624033	+	Silent	SNP	G	G	T	rs376130419		TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr11:92624033G>T	ENST00000298047.6	+	27	13541	c.13524G>T	c.(13522-13524)ccG>ccT	p.P4508P	FAT3_ENST00000409404.2_Silent_p.P4476P|FAT3_ENST00000533797.1_Silent_p.P811P|FAT3_ENST00000525166.1_Silent_p.P4358P			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4508	Pro-rich.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P4508P(1)|p.P1083P(1)|p.P4476P(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGGTGGGCCCGCCTGCCAGCT	0.567										TCGA Ovarian(4;0.039)																												uc001pdj.3																			3	Substitution - coding silent(3)		lung(3)	ovary(4)|pancreas(1)	5						c.(13426-13428)CCG>CCT		FAT tumor suppressor homolog 3							42.0	43.0	43.0					11																	92624033		1962	4164	6126	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92624033G>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.13524G>T	11.37:g.92624033G>T		TCGA Ovarian(4;0.039)				FAT3_uc001pdi.3_Silent_p.P948P	p.P4476P	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			25	13445	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	4508			Pro-rich.|Cytoplasmic (Potential).		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.13428G>T																																																																																					PASS	0.567	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		10	50	10	50	---	---	---	---
TMPRSS5	80975	broad.mit.edu	37	11	113563832	113563832	+	Missense_Mutation	SNP	C	C	G	rs201901513		TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr11:113563832C>G	ENST00000299882.5	-	9	1073	c.925G>C	c.(925-927)Gtc>Ctc	p.V309L	TMPRSS5_ENST00000538955.1_Missense_Mutation_p.V265L|TMPRSS5_ENST00000544634.1_Missense_Mutation_p.V240L|TMPRSS5_ENST00000545579.1_Missense_Mutation_p.V300L|TMPRSS5_ENST00000536856.1_Missense_Mutation_p.V50L|TMPRSS5_ENST00000540540.1_Missense_Mutation_p.V50L|TMPRSS5_ENST00000545265.1_5'UTR|TMPRSS5_ENST00000544476.1_Missense_Mutation_p.V196L	NM_030770.2	NP_110397.2	Q9H3S3	TMPS5_HUMAN	transmembrane protease, serine 5	309	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	peptidase activity (GO:0008233)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.V309L(2)		endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10		all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502)		AGGAGGGCGACGTCGTAGTCA	0.647																																						uc001poc.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(925-927)GTC>CTC		transmembrane protease, serine 5							26.0	33.0	30.0					11																	113563832		1963	4150	6113	SO:0001583	missense	80975				proteolysis	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr11:113563832C>G	AB028140	CCDS44735.1, CCDS73390.1, CCDS73391.1, CCDS73392.1, CCDS73393.1	11q	2010-04-13	2008-07-31		ENSG00000166682	ENSG00000166682		"""Serine peptidases / Transmembrane"""	14908	protein-coding gene	gene with protein product	"""spinesin"""	606751					Standard	NM_030770		Approved	MGC141886, MGC148044	uc001poc.4	Q9H3S3	OTTHUMG00000168186	ENST00000299882.5:c.925G>C	11.37:g.113563832C>G	ENSP00000299882:p.Val309Leu					TMPRSS5_uc009yys.2_Missense_Mutation_p.V300L|TMPRSS5_uc009yyt.2_Missense_Mutation_p.V265L|TMPRSS5_uc001pod.3_Missense_Mutation_p.V50L|TMPRSS5_uc010rww.1_Missense_Mutation_p.V230L|TMPRSS5_uc009yyu.2_Missense_Mutation_p.V50L|TMPRSS5_uc010rwx.1_Missense_Mutation_p.V196L	p.V309L	NM_030770	NP_110397	Q9H3S3	TMPS5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502)	9	1047	-		all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)	309			Peptidase S1.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000299882.5	37	c.925G>C	CCDS44735.1	.	.	.	.	.	.	.	.	.	.	C	8.582	0.882505	0.17467	.	.	ENSG00000166682	ENST00000536856;ENST00000540540;ENST00000299882;ENST00000545579;ENST00000538955;ENST00000544634;ENST00000544476	T;T;T;T;T;T;T	0.59502	0.34;0.34;0.26;0.26;0.26;0.34;0.34	5.38	-3.25	0.05079	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.329575	0.27673	N	0.018333	T	0.33352	0.0860	N	0.13198	0.31	0.09310	N	0.999997	B;B;B;B	0.14012	0.007;0.009;0.004;0.0	B;B;B;B	0.17098	0.017;0.01;0.003;0.004	T	0.20371	-1.0277	10	0.66056	D	0.02	.	8.415	0.32666	0.0:0.3035:0.1132:0.5833	.	240;50;300;309	F5GYA3;G5EA47;F5GX83;Q9H3S3	.;.;.;TMPS5_HUMAN	L	50;50;309;300;265;240;196	ENSP00000437937:V50L;ENSP00000437761:V50L;ENSP00000299882:V309L;ENSP00000441104:V300L;ENSP00000445528:V265L;ENSP00000440783:V240L;ENSP00000445930:V196L	ENSP00000299882:V309L	V	-	1	0	TMPRSS5	113069042	0.640000	0.27243	0.006000	0.13384	0.048000	0.14542	0.278000	0.18753	-0.469000	0.06911	-0.448000	0.05591	GTC		PASS	0.647	TMPRSS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398652.1	NM_030770		4	15	4	15	---	---	---	---
ROBO3	64221	broad.mit.edu	37	11	124745138	124745138	+	Silent	SNP	T	T	A			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr11:124745138T>A	ENST00000397801.1	+	14	2397	c.2205T>A	c.(2203-2205)ccT>ccA	p.P735P	ROBO3_ENST00000538940.1_Silent_p.P713P|ROBO3_ENST00000543966.1_5'Flank	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	735	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)		p.P735P(2)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GAGGACTCCCTCCAGGGACCC	0.592																																						uc001qbc.2																			2	Substitution - coding silent(2)		lung(2)	breast(1)|central_nervous_system(1)	2						c.(2203-2205)CCT>CCA		roundabout, axon guidance receptor, homolog 3							71.0	72.0	72.0					11																	124745138		1929	4133	6062	SO:0001819	synonymous_variant	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124745138T>A	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.2205T>A	11.37:g.124745138T>A						ROBO3_uc010saq.1_5'Flank|ROBO3_uc001qbd.2_5'Flank|ROBO3_uc010sar.1_5'Flank|ROBO3_uc001qbe.2_5'Flank|ROBO3_uc001qbf.1_5'Flank	p.P735P	NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	14	2397	+	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)	735			Fibronectin type-III 2.|Extracellular (Potential).			Silent	SNP	ENST00000397801.1	37	c.2205T>A	CCDS44755.1																																																																																				PASS	0.592	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		32	108	32	108	---	---	---	---
OR10AD1	121275	broad.mit.edu	37	12	48596562	48596562	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr12:48596562C>G	ENST00000310248.2	-	1	608	c.514G>C	c.(514-516)Gac>Cac	p.D172H		NM_001004134.1	NP_001004134.1	Q8NGE0	O10AD_HUMAN	olfactory receptor, family 10, subfamily AD, member 1	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D172H(1)		endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1)	9						ATGTGGTTGTCTCTGCGGAAG	0.512																																						uc001rrl.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(514-516)GAC>CAC		olfactory receptor, family 10, subfamily AD,							51.0	43.0	46.0					12																	48596562		2203	4300	6503	SO:0001583	missense	121275				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:48596562C>G		CCDS31787.1	12q13.11	2013-09-24	2002-11-13	2002-11-15	ENSG00000172640	ENSG00000172640		"""GPCR / Class A : Olfactory receptors"""	14819	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily AD, member 1 pseudogene"""	OR10AD1P			Standard	NM_001004134		Approved		uc001rrl.1	Q8NGE0	OTTHUMG00000168027	ENST00000310248.2:c.514G>C	12.37:g.48596562C>G	ENSP00000308689:p.Asp172His						p.D172H	NM_001004134	NP_001004134	Q8NGE0	O10AD_HUMAN			1	514	-			172			Extracellular (Potential).		B9EGT9|Q6IFA8	Missense_Mutation	SNP	ENST00000310248.2	37	c.514G>C	CCDS31787.1	.	.	.	.	.	.	.	.	.	.	C	10.64	1.406413	0.25378	.	.	ENSG00000172640	ENST00000310248	T	0.37235	1.21	4.83	2.8	0.32819	GPCR, rhodopsin-like superfamily (1);	0.210963	0.24559	N	0.037490	T	0.29684	0.0741	N	0.13371	0.34	0.09310	N	1	P	0.50819	0.939	P	0.54499	0.754	T	0.08106	-1.0738	10	0.23891	T	0.37	-14.9768	9.4	0.38426	0.1601:0.684:0.1559:0.0	.	172	Q8NGE0	O10AD_HUMAN	H	172	ENSP00000308689:D172H	ENSP00000308689:D172H	D	-	1	0	OR10AD1	46882829	0.000000	0.05858	0.445000	0.26908	0.382000	0.30200	-0.075000	0.11431	1.336000	0.45506	0.561000	0.74099	GAC		PASS	0.512	OR10AD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397577.1			17	44	17	44	---	---	---	---
CEP290	80184	broad.mit.edu	37	12	88512421	88512421	+	Splice_Site	SNP	T	T	A			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr12:88512421T>A	ENST00000552810.1	-	16	1965	c.1622A>T	c.(1621-1623)gAg>gTg	p.E541V	CEP290_ENST00000397838.3_5'UTR|CEP290_ENST00000309041.7_Missense_Mutation_p.E541V	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	541					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)		p.E541V(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CACACTTGCCTCTTTCAAAAG	0.343																																						uc001tar.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(1)|pancreas(1)	7						c.(1621-1623)GAG>GTG		centrosomal protein 290kDa							130.0	118.0	122.0					12																	88512421		1819	4075	5894	SO:0001630	splice_region_variant	80184				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	g.chr12:88512421T>A	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.1623+1A>T	12.37:g.88512421T>A						CEP290_uc001tat.2_Missense_Mutation_p.E303V|CEP290_uc009zsl.1_RNA	p.E541V	NM_025114	NP_079390	O15078	CE290_HUMAN			16	1966	-			541			Potential.		Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	ENST00000552810.1	37	c.1622A>T	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.602428	0.87157	.	.	ENSG00000198707	ENST00000552810;ENST00000309041;ENST00000536998;ENST00000545139	T;T	0.74315	-0.58;-0.83	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.84727	0.5536	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.91635	0.925;0.999	D	0.85414	0.1139	10	0.51188	T	0.08	.	15.6828	0.77385	0.0:0.0:0.0:1.0	.	541;541	Q05BJ6;O15078	.;CE290_HUMAN	V	541;541;541;443	ENSP00000448012:E541V;ENSP00000308021:E541V	ENSP00000308021:E541V	E	-	2	0	CEP290	87036552	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.328000	0.79160	2.103000	0.63969	0.477000	0.44152	GAG		PASS	0.343	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114	Missense_Mutation	7	116	7	116	---	---	---	---
PARPBP	55010	broad.mit.edu	37	12	102559553	102559553	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr12:102559553A>G	ENST00000358383.5	+	6	758	c.713A>G	c.(712-714)tAt>tGt	p.Y238C	PARPBP_ENST00000541394.1_Missense_Mutation_p.Y315C|PARPBP_ENST00000543784.1_Missense_Mutation_p.Y124C|PARPBP_ENST00000378128.3_Missense_Mutation_p.Y238C|PARPBP_ENST00000327680.2_Missense_Mutation_p.Y157C|PARPBP_ENST00000392911.2_Missense_Mutation_p.Y157C|PARPBP_ENST00000535811.1_Intron			Q9NWS1	PARI_HUMAN	PARP1 binding protein	238					DNA repair (GO:0006281)|negative regulation of double-strand break repair via homologous recombination (GO:2000042)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.Y157C(1)|p.Y238C(1)		endometrium(1)|lung(8)|urinary_tract(2)	11						GGGAAAGGATATGCACCACCA	0.338																																						uc001tjf.2																			2	Substitution - Missense(2)		lung(2)		0						c.(712-714)TAT>TGT		hypothetical protein LOC55010							137.0	136.0	136.0					12																	102559553		2203	4299	6502	SO:0001583	missense	55010				response to DNA damage stimulus	cytoplasm|nucleus	DNA binding	g.chr12:102559553A>G	AK000648	CCDS9090.1, CCDS9090.2	12q23.2	2013-03-14	2012-01-24	2012-01-24		ENSG00000185480			26074	protein-coding gene	gene with protein product	"""PARP-1 binding protein"""	613687	"""chromosome 12 open reading frame 48"""	C12orf48		20931645	Standard	NM_017915		Approved	FLJ20641, PARI	uc001tjf.3	Q9NWS1		ENST00000358383.5:c.713A>G	12.37:g.102559553A>G	ENSP00000351153:p.Tyr238Cys					C12orf48_uc001tjg.2_Missense_Mutation_p.Y157C|C12orf48_uc010swa.1_Missense_Mutation_p.Y315C|C12orf48_uc001tjh.2_Missense_Mutation_p.Y157C|C12orf48_uc010swb.1_Missense_Mutation_p.Y124C|C12orf48_uc009zuc.2_Intron|C12orf48_uc001tjj.2_Translation_Start_Site|C12orf48_uc001tjk.2_Missense_Mutation_p.Y238C|C12orf48_uc009zud.2_Missense_Mutation_p.Y238C	p.Y238C	NM_017915	NP_060385	Q9NWS1	PR1BP_HUMAN			6	825	+			238					B4E0Y0|Q05C00|Q499L8|Q4FZA0|Q4KMW7|Q6NSC6|Q6PJA1|Q86W36	Missense_Mutation	SNP	ENST00000358383.5	37	c.713A>G	CCDS9090.2	.	.	.	.	.	.	.	.	.	.	A	16.66	3.185739	0.57909	.	.	ENSG00000185480	ENST00000378128;ENST00000327680;ENST00000541394;ENST00000543784;ENST00000358383;ENST00000392911;ENST00000417507;ENST00000412715	T;T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91	6.08	6.08	0.98989	.	0.051661	0.85682	D	0.000000	T	0.36690	0.0976	L	0.48362	1.52	0.54753	D	0.99998	B;P;P;P;P	0.41929	0.268;0.765;0.765;0.599;0.765	B;B;B;B;B	0.41036	0.157;0.346;0.346;0.313;0.346	T	0.27297	-1.0078	10	0.48119	T	0.1	-19.6054	7.9968	0.30273	0.81:0.0:0.0668:0.1232	.	124;315;238;238;238	B4DT40;B4DZ31;Q9NWS1-6;Q9NWS1-7;Q9NWS1	.;.;.;.;PR1BP_HUMAN	C	238;157;315;124;238;157;205;205	ENSP00000367368:Y238C;ENSP00000332915:Y157C;ENSP00000440850:Y315C;ENSP00000444576:Y124C;ENSP00000351153:Y238C;ENSP00000376643:Y157C;ENSP00000411313:Y205C;ENSP00000393867:Y205C	ENSP00000332915:Y157C	Y	+	2	0	C12orf48	101083683	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.784000	0.55416	2.333000	0.79357	0.482000	0.46254	TAT		PASS	0.338	PARPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397030.2	NM_017915		70	109	70	109	---	---	---	---
HECTD4	283450	broad.mit.edu	37	12	112672921	112672921	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr12:112672921C>T	ENST00000430131.2	-	36	5754	c.4609G>A	c.(4609-4611)Gaa>Aaa	p.E1537K	HECTD4_ENST00000550722.1_Missense_Mutation_p.E1813K|HECTD4_ENST00000377560.5_Missense_Mutation_p.E1787K			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1537					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.E1537K(1)|p.E1787K(1)									GACTGGTCTTCCCGCTTGTGG	0.478																																						uc009zwc.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)	2						c.(4609-4611)GAA>AAA		chromosome 12 open reading frame 51							137.0	140.0	139.0					12																	112672921		2062	4198	6260	SO:0001583	missense	283450							g.chr12:112672921C>T	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.4609G>A	12.37:g.112672921C>T	ENSP00000404379:p.Glu1537Lys						p.E1537K	NM_001109662	NP_001103132					30	4627	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.4609G>A		.	.	.	.	.	.	.	.	.	.	C	37	6.065255	0.97251	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.60672	0.18;0.2;0.17	6.03	6.03	0.97812	.	.	.	.	.	T	0.65354	0.2683	N	0.19112	0.55	0.80722	D	1	P	0.52842	0.956	D	0.65010	0.931	T	0.68221	-0.5466	9	0.87932	D	0	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	1537	Q9Y4D8	K0614_HUMAN	K	1787;1537;1813	ENSP00000366783:E1787K;ENSP00000404379:E1537K;ENSP00000449784:E1813K	ENSP00000366783:E1787K	E	-	1	0	C12orf51	111157304	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.376000	0.79658	2.854000	0.98071	0.655000	0.94253	GAA		PASS	0.478	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		11	10	11	10	---	---	---	---
GCN1L1	10985	broad.mit.edu	37	12	120606105	120606105	+	Splice_Site	SNP	C	C	G			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr12:120606105C>G	ENST00000300648.6	-	16	1532		c.e16-1			NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)						regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)	p.?(1)		NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGTTTGGCCTCTGCAAGAAAC	0.498																																						uc001txo.2																			1	Unknown(1)		lung(1)	ovary(4)	4						c.e16-1		GCN1 general control of amino-acid synthesis							124.0	117.0	119.0					12																	120606105		1954	4149	6103	SO:0001630	splice_region_variant	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120606105C>G	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.1520-1G>C	12.37:g.120606105C>G							p.E507_splice	NM_006836	NP_006827	Q92616	GCN1L_HUMAN			16	1533	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)							A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Splice_Site	SNP	ENST00000300648.6	37	c.1520_splice	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.420243	0.62622	.	.	ENSG00000089154	ENST00000300648	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7028	0.96062	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GCN1L1	119090488	1.000000	0.71417	1.000000	0.80357	0.627000	0.37826	7.190000	0.77755	2.663000	0.90544	0.563000	0.77884	.		PASS	0.498	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1		Intron	48	73	48	73	---	---	---	---
SACS	26278	broad.mit.edu	37	13	23915054	23915054	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr13:23915054C>G	ENST00000382292.3	-	9	3234	c.2961G>C	c.(2959-2961)aaG>aaC	p.K987N	SACS_ENST00000382298.3_Missense_Mutation_p.K987N|SACS_ENST00000402364.1_Missense_Mutation_p.K237N			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	987					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.K840N(1)|p.K987N(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AGCTAGTGGTCTTTAACTGTT	0.358																																						uc001uon.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(2959-2961)AAG>AAC		sacsin							79.0	77.0	78.0					13																	23915054		2203	4300	6503	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23915054C>G	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.2961G>C	13.37:g.23915054C>G	ENSP00000371729:p.Lys987Asn					SACS_uc001uoo.2_Missense_Mutation_p.K840N|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.K987N	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	3550	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	987					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.2961G>C	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	7.146	0.582839	0.13749	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88124	-2.18;-2.34;-2.18	6.05	5.04	0.67666	.	0.150181	0.64402	D	0.000018	T	0.77329	0.4114	N	0.19112	0.55	0.35743	D	0.818825	B	0.24823	0.112	B	0.23574	0.047	T	0.75816	-0.3184	10	0.27082	T	0.32	.	12.0982	0.53767	0.0:0.8187:0.0:0.1813	.	987	Q9NZJ4	SACS_HUMAN	N	987;237;987	ENSP00000371729:K987N;ENSP00000385844:K237N;ENSP00000371735:K987N	ENSP00000371729:K987N	K	-	3	2	SACS	22813054	1.000000	0.71417	0.996000	0.52242	0.415000	0.31203	1.397000	0.34543	2.878000	0.98634	0.650000	0.86243	AAG		PASS	0.358	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		70	211	70	211	---	---	---	---
MYCBP2	23077	broad.mit.edu	37	13	77760022	77760022	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr13:77760022T>A	ENST00000544440.2	-	31	4331	c.4314A>T	c.(4312-4314)gaA>gaT	p.E1438D	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000407578.2_Missense_Mutation_p.E1476D|MYCBP2_ENST00000357337.6_Missense_Mutation_p.E1438D					MYC binding protein 2, E3 ubiquitin protein ligase									p.E1438D(2)|p.E1476D(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CTGGGTAAATTTCACAGGTAT	0.368																																						uc001vkf.2																			3	Substitution - Missense(3)		lung(3)	ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(4312-4314)GAA>GAT		MYC binding protein 2							77.0	67.0	71.0					13																	77760022		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77760022T>A	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.4314A>T	13.37:g.77760022T>A	ENSP00000444596:p.Glu1438Asp					MYCBP2_uc010aev.2_Missense_Mutation_p.E842D	p.E1438D	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	32	4405	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	1438						Missense_Mutation	SNP	ENST00000544440.2	37	c.4314A>T		.	.	.	.	.	.	.	.	.	.	T	15.85	2.953582	0.53293	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.34472	1.36;1.36;1.36	5.64	3.2	0.36748	.	0.130576	0.51477	D	0.000094	T	0.24005	0.0581	N	0.25485	0.75	0.41265	D	0.986809	B	0.06786	0.001	B	0.08055	0.003	T	0.06110	-1.0845	10	0.52906	T	0.07	.	8.6505	0.34031	0.0:0.2482:0.0:0.7518	.	1438	O75592	MYCB2_HUMAN	D	1438;1476;1438	ENSP00000349892:E1438D;ENSP00000384288:E1476D;ENSP00000444596:E1438D	ENSP00000349892:E1438D	E	-	3	2	MYCBP2	76658023	0.995000	0.38212	1.000000	0.80357	0.995000	0.86356	0.402000	0.20965	0.925000	0.37094	0.459000	0.35465	GAA		PASS	0.368	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		28	42	28	42	---	---	---	---
OR4K13	390433	broad.mit.edu	37	14	20502131	20502131	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr14:20502131T>A	ENST00000315693.2	-	1	788	c.787A>T	c.(787-789)Agc>Tgc	p.S263C	AL359218.1_ENST00000580563.1_RNA	NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	263						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S263C(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		GAGTATCTGCTGAAGGGCCAG	0.393																																						uc010tkz.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(787-789)AGC>TGC		olfactory receptor, family 4, subfamily K,							77.0	72.0	74.0					14																	20502131		2203	4300	6503	SO:0001583	missense	390433				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20502131T>A		CCDS32028.1	14q11.2	2013-09-23			ENSG00000176253	ENSG00000176253		"""GPCR / Class A : Olfactory receptors"""	15351	protein-coding gene	gene with protein product							Standard	NM_001004714		Approved		uc010tkz.2	Q8NH42	OTTHUMG00000170781	ENST00000315693.2:c.787A>T	14.37:g.20502131T>A	ENSP00000319322:p.Ser263Cys						p.S263C	NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	1	787	-	all_cancers(95;0.00108)		263			Extracellular (Potential).		Q6IF13	Missense_Mutation	SNP	ENST00000315693.2	37	c.787A>T	CCDS32028.1	.	.	.	.	.	.	.	.	.	.	.	7.779	0.709191	0.15239	.	.	ENSG00000176253	ENST00000315693	T	0.00277	8.34	3.46	3.46	0.39613	GPCR, rhodopsin-like superfamily (1);	0.757438	0.11162	U	0.592959	T	0.00440	0.0014	M	0.93241	3.395	0.09310	N	1	B	0.18610	0.029	B	0.32289	0.143	T	0.45512	-0.9256	10	0.59425	D	0.04	.	4.6274	0.12484	0.0:0.2437:0.0:0.7563	.	263	Q8NH42	OR4KD_HUMAN	C	263	ENSP00000319322:S263C	ENSP00000319322:S263C	S	-	1	0	OR4K13	19571971	0.000000	0.05858	0.153000	0.22517	0.003000	0.03518	-0.243000	0.08915	1.434000	0.47414	0.421000	0.28195	AGC		PASS	0.393	OR4K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410344.1			5	49	5	49	---	---	---	---
OR6S1	341799	broad.mit.edu	37	14	21109376	21109376	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr14:21109376G>T	ENST00000320704.3	-	1	474	c.475C>A	c.(475-477)Ctt>Att	p.L159I		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	159						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L159I(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		GTGGGACCAAGCACAGGGACG	0.617																																						uc001vxv.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(475-477)CTT>ATT		olfactory receptor, family 6, subfamily S,							76.0	63.0	68.0					14																	21109376		2203	4300	6503	SO:0001583	missense	341799				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:21109376G>T	AL163636	CCDS32038.1	14q11.2	2013-09-24			ENSG00000181803	ENSG00000181803		"""GPCR / Class A : Olfactory receptors"""	15363	protein-coding gene	gene with protein product							Standard	NM_001001968		Approved	OR6S1Q	uc001vxv.1	Q8NH40	OTTHUMG00000171010	ENST00000320704.3:c.475C>A	14.37:g.21109376G>T	ENSP00000313110:p.Leu159Ile						p.L159I	NM_001001968	NP_001001968	Q8NH40	OR6S1_HUMAN	Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)	1	475	-	all_cancers(95;0.00304)		159			Helical; Name=4; (Potential).		Q6IFJ9	Missense_Mutation	SNP	ENST00000320704.3	37	c.475C>A	CCDS32038.1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.778170	0.31502	.	.	ENSG00000181803	ENST00000320704	T	0.00249	8.44	5.76	5.76	0.90799	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44483	D	0.000455	T	0.00144	0.0004	N	0.12746	0.255	0.28895	N	0.893597	B	0.22541	0.071	B	0.33960	0.173	T	0.41413	-0.9510	10	0.20046	T	0.44	-16.5894	10.8306	0.46659	0.0852:0.0:0.9148:0.0	.	159	Q8NH40	OR6S1_HUMAN	I	159	ENSP00000313110:L159I	ENSP00000313110:L159I	L	-	1	0	OR6S1	20179216	0.007000	0.16637	1.000000	0.80357	0.970000	0.65996	0.386000	0.20702	2.716000	0.92895	0.655000	0.94253	CTT		PASS	0.617	OR6S1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411227.1			8	35	8	35	---	---	---	---
OR5AU1	390445	broad.mit.edu	37	14	21623456	21623456	+	Silent	SNP	G	G	C			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr14:21623456G>C	ENST00000304418.3	-	1	766	c.729C>G	c.(727-729)acC>acG	p.T243T		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T243T(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		CACACAGTGAGGTGTCTACAC	0.468																																						uc010tlp.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(727-729)ACC>ACG		olfactory receptor, family 5, subfamily AU,							88.0	78.0	81.0					14																	21623456		2203	4300	6503	SO:0001819	synonymous_variant	390445				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:21623456G>C	AL157687	CCDS32042.1	14q11.2	2013-09-23			ENSG00000169327	ENSG00000169327		"""GPCR / Class A : Olfactory receptors"""	15362	protein-coding gene	gene with protein product							Standard	NM_001004731		Approved		uc010tlp.2	Q8NGC0	OTTHUMG00000170753	ENST00000304418.3:c.729C>G	14.37:g.21623456G>C							p.T243T	NM_001004731	NP_001004731	Q8NGC0	O5AU1_HUMAN	Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)	1	729	-	all_cancers(95;0.00238)		243			Extracellular (Potential).		B2RP78|Q6IEU2|Q96R10	Silent	SNP	ENST00000304418.3	37	c.729C>G	CCDS32042.1																																																																																				PASS	0.468	OR5AU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410213.1			11	31	11	31	---	---	---	---
MDGA2	161357	broad.mit.edu	37	14	47324244	47324244	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr14:47324244G>T	ENST00000399232.2	-	15	3023	c.2659C>A	c.(2659-2661)Cca>Aca	p.P887T	MDGA2_ENST00000439988.3_Missense_Mutation_p.P956T|MDGA2_ENST00000357362.3_Missense_Mutation_p.P658T|MDGA2_ENST00000399222.3_Missense_Mutation_p.P89T|MDGA2_ENST00000426342.1_Missense_Mutation_p.P658T	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	887	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.P658T(2)|p.P956T(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GAAGTAATTGGGTATATATTA	0.323																																						uc001wwj.3																			3	Substitution - Missense(3)		lung(3)	ovary(4)|large_intestine(1)|pancreas(1)	6						c.(2659-2661)CCA>ACA		MAM domain containing 1 isoform 1							138.0	126.0	130.0					14																	47324244		1820	4074	5894	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47324244G>T	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.2659C>A	14.37:g.47324244G>T	ENSP00000382178:p.Pro887Thr					MDGA2_uc001wwh.3_Missense_Mutation_p.P89T|MDGA2_uc001wwi.3_Missense_Mutation_p.P658T	p.P887T	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN			15	2855	-			887			MAM.		F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.2659C>A		.	.	.	.	.	.	.	.	.	.	G	17.31	3.356225	0.61293	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000399222;ENST00000357362	T;T;T;T;T	0.01998	4.51;4.51;4.51;4.51;4.51	4.73	4.73	0.59995	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.000000	0.51477	U	0.000093	T	0.08313	0.0207	L	0.41573	1.285	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.11792	-1.0573	10	0.87932	D	0	.	15.5477	0.76118	0.0:0.0:1.0:0.0	.	887	Q7Z553	MDGA2_HUMAN	T	887;658;956;89;658	ENSP00000400011:P887T;ENSP00000405456:P658T;ENSP00000382178:P956T;ENSP00000382168:P89T;ENSP00000349925:P658T	ENSP00000349925:P658T	P	-	1	0	MDGA2	46393994	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.086000	0.76885	2.333000	0.79357	0.557000	0.71058	CCA		PASS	0.323	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		12	115	12	115	---	---	---	---
MTHFD1	4522	broad.mit.edu	37	14	64882081	64882081	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr14:64882081G>A	ENST00000545908.1	+	5	643	c.414G>A	c.(412-414)atG>atA	p.M138I	MTHFD1_ENST00000216605.8_Missense_Mutation_p.M82I			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	82	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid metabolic process (GO:0046655)|folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (GO:0004486)	p.M82I(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Tetrahydrofolic acid(DB00116)	TTTAGGTGATGAAGTACATTA	0.338																																					Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)	uc001xhb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(244-246)ATG>ATA		methylenetetrahydrofolate dehydrogenase 1	NADH(DB00157)|Tetrahydrofolic acid(DB00116)						117.0	114.0	115.0					14																	64882081		2203	4300	6503	SO:0001583	missense	4522				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|methylenetetrahydrofolate dehydrogenase|protein binding	g.chr14:64882081G>A	J04031	CCDS9763.1	14q24	2004-12-13			ENSG00000100714	ENSG00000100714	1.5.1.15, 3.5.4.-		7432	protein-coding gene	gene with protein product		172460		MTHFC, MTHFD		3053686, 2786332	Standard	NM_005956		Approved		uc001xhb.3	P11586	OTTHUMG00000141309	ENST00000545908.1:c.414G>A	14.37:g.64882081G>A	ENSP00000438588:p.Met138Ile					MTHFD1_uc010aqe.2_Missense_Mutation_p.M118I|MTHFD1_uc010aqf.2_Missense_Mutation_p.M138I	p.M82I	NM_005956	NP_005947	P11586	C1TC_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	5	633	+			82			Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.		B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Missense_Mutation	SNP	ENST00000545908.1	37	c.246G>A		.	.	.	.	.	.	.	.	.	.	G	10.11	1.260131	0.23051	.	.	ENSG00000100714	ENST00000545908;ENST00000555709;ENST00000216605;ENST00000555252	T;T;T;T	0.20738	2.88;2.89;2.89;2.05	4.96	-6.55	0.01854	Tetrahydrofolate dehydrogenase/cyclohydrolase, conserved site (1);Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain (1);	0.165528	0.39687	N	0.001286	T	0.05593	0.0147	N	0.01464	-0.85	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.35847	-0.9772	10	0.21540	T	0.41	-0.2858	12.4576	0.55712	0.2323:0.1976:0.5701:0.0	.	138;82;82	F5H2F4;P11586;G3V2B8	.;C1TC_HUMAN;.	I	138;82;138;62	ENSP00000438588:M138I;ENSP00000450560:M82I;ENSP00000216605:M138I;ENSP00000451309:M62I	ENSP00000216605:M82I	M	+	3	0	MTHFD1	63951834	0.053000	0.20554	0.225000	0.23894	0.625000	0.37756	-0.671000	0.05250	-1.326000	0.02266	-1.648000	0.00760	ATG		PASS	0.338	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000412167.1			29	196	29	196	---	---	---	---
PLEKHH1	57475	broad.mit.edu	37	14	68052672	68052672	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr14:68052672T>C	ENST00000329153.5	+	28	3923	c.3791T>C	c.(3790-3792)gTg>gCg	p.V1264A	PLEKHH1_ENST00000417684.2_Missense_Mutation_p.V129A	NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	1264	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoskeleton (GO:0005856)		p.V1264A(1)|p.V1303A(1)		endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CCACAGCAAGTGCACATCACT	0.502																																						uc001xjl.1																			2	Substitution - Missense(2)		lung(2)		0						c.(3790-3792)GTG>GCG		pleckstrin homology domain containing, family H							236.0	233.0	234.0					14																	68052672		2024	4187	6211	SO:0001583	missense	57475					cytoskeleton	binding	g.chr14:68052672T>C	AB033026	CCDS45128.1	14q24.1	2013-01-10				ENSG00000054690		"""Pleckstrin homology (PH) domain containing"""	17733	protein-coding gene	gene with protein product						10574462	Standard	NM_020715		Approved	KIAA1200	uc001xjl.1	Q9ULM0		ENST00000329153.5:c.3791T>C	14.37:g.68052672T>C	ENSP00000330278:p.Val1264Ala					PLEKHH1_uc010tsw.1_Missense_Mutation_p.V832A|PLEKHH1_uc001xjn.1_Missense_Mutation_p.V779A|PLEKHH1_uc010tsx.1_Missense_Mutation_p.V129A|PLEKHH1_uc001xjo.1_Missense_Mutation_p.V129A|PLEKHH1_uc001xjp.1_Missense_Mutation_p.V129A	p.V1264A	NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN		all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)	28	3933	+			1264			FERM.		A6H8X6|Q6PJL4|Q6ZWC7	Missense_Mutation	SNP	ENST00000329153.5	37	c.3791T>C	CCDS45128.1	.	.	.	.	.	.	.	.	.	.	T	16.18	3.051521	0.55218	.	.	ENSG00000054690	ENST00000329153;ENST00000417684	T;T	0.78364	-1.17;-1.17	5.53	5.53	0.82687	FERM domain (1);	0.462561	0.24635	N	0.036846	T	0.71117	0.3302	L	0.48642	1.525	0.31980	N	0.606064	P;B;B	0.39847	0.691;0.116;0.015	B;B;B	0.37267	0.245;0.036;0.011	T	0.74067	-0.3784	10	0.21540	T	0.41	.	15.827	0.78718	0.0:0.0:0.0:1.0	.	129;129;1264	E7ESY2;B3KWD2;Q9ULM0	.;.;PKHH1_HUMAN	A	1264;129	ENSP00000330278:V1264A;ENSP00000397712:V129A	ENSP00000330278:V1264A	V	+	2	0	PLEKHH1	67122425	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.639000	0.54339	2.324000	0.78689	0.533000	0.62120	GTG		PASS	0.502	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412730.3	XM_031054		48	308	48	308	---	---	---	---
ZFYVE1	53349	broad.mit.edu	37	14	73464861	73464861	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr14:73464861A>G	ENST00000556143.1	-	3	1366	c.646T>C	c.(646-648)Tcc>Ccc	p.S216P	ZFYVE1_ENST00000318876.5_Missense_Mutation_p.S216P|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.S216P	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	216					negative regulation of phosphatase activity (GO:0010923)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|ER-mitochondrion membrane contact site (GO:0044233)|Golgi stack (GO:0005795)|perinuclear region of cytoplasm (GO:0048471)|pre-autophagosomal structure (GO:0000407)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|zinc ion binding (GO:0008270)	p.S216P(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		ACAGTGCAGGACTCCTGGGTC	0.502																																						uc001xnm.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(646-648)TCC>CCC		zinc finger, FYVE domain containing 1 isoform 1							54.0	53.0	53.0					14																	73464861		2203	4300	6503	SO:0001583	missense	53349					endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding	g.chr14:73464861A>G	AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"""Zinc fingers, FYVE domain containing"""	13180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 172"""	605471	"""zinc finger protein, subfamily 2A (FYVE domain containing), 1"""	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.646T>C	14.37:g.73464861A>G	ENSP00000450742:p.Ser216Pro					ZFYVE1_uc010arj.2_Missense_Mutation_p.S216P	p.S216P	NM_021260	NP_067083	Q9HBF4	ZFYV1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)	3	1286	-		all_lung(585;1.33e-09)	216					J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Missense_Mutation	SNP	ENST00000556143.1	37	c.646T>C	CCDS9811.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.296104	0.81025	.	.	ENSG00000165861	ENST00000553891;ENST00000318876;ENST00000556143	T;T;T	0.62232	0.04;0.04;0.04	5.82	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.75133	0.3808	M	0.63428	1.95	0.80722	D	1	P;D	0.89917	0.956;1.0	P;D	0.85130	0.664;0.997	T	0.76321	-0.3002	10	0.66056	D	0.02	-22.7136	11.8978	0.52665	0.9317:0.0:0.0683:0.0	.	216;216	G3V5N8;Q9HBF4	.;ZFYV1_HUMAN	P	216	ENSP00000452442:S216P;ENSP00000326921:S216P;ENSP00000450742:S216P	ENSP00000326921:S216P	S	-	1	0	ZFYVE1	72534614	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.339000	0.96797	1.030000	0.39839	0.482000	0.46254	TCC		PASS	0.502	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413172.1	NM_021260		9	90	9	90	---	---	---	---
CYP46A1	10858	broad.mit.edu	37	14	100157471	100157471	+	Missense_Mutation	SNP	G	G	A	rs200569884		TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr14:100157471G>A	ENST00000261835.3	+	2	277	c.173G>A	c.(172-174)cGt>cAt	p.R58H	CYP46A1_ENST00000423126.2_5'UTR|RP11-543C4.3_ENST00000555875.1_lincRNA	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	58					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|nervous system development (GO:0007399)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol 24-hydroxylase activity (GO:0033781)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)	p.R58H(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				GTTGGTGGCCGTGTGCTCCAA	0.498																																						uc001ygo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(172-174)CGT>CAT		cytochrome P450, family 46							387.0	302.0	331.0					14																	100157471		2203	4300	6503	SO:0001583	missense	10858				bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity	g.chr14:100157471G>A	AF094480	CCDS9954.1	14q32.2	2013-05-03	2003-02-14	2003-02-28	ENSG00000036530	ENSG00000036530		"""Cytochrome P450s"""	2641	protein-coding gene	gene with protein product		604087	"""cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase)"""	CYP46		10377398	Standard	NM_006668		Approved		uc001ygo.3	Q9Y6A2	OTTHUMG00000171510	ENST00000261835.3:c.173G>A	14.37:g.100157471G>A	ENSP00000261835:p.Arg58His					CYP46A1_uc001ygn.1_Missense_Mutation_p.V6M	p.R58H	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN			2	173	+		Melanoma(154;0.0866)|all_epithelial(191;0.179)	58					B4DHP8|E7EQG9|Q8N2B0	Missense_Mutation	SNP	ENST00000261835.3	37	c.173G>A	CCDS9954.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.034541	0.54896	.	.	ENSG00000036530	ENST00000261835	T	0.68479	-0.33	3.62	3.62	0.41486	.	0.000000	0.34986	N	0.003528	T	0.37679	0.1012	N	0.02539	-0.55	0.80722	D	1	D	0.53151	0.958	B	0.41299	0.353	T	0.35400	-0.9790	10	0.28530	T	0.3	.	11.097	0.48150	0.0:0.0:1.0:0.0	.	58	Q9Y6A2	CP46A_HUMAN	H	58	ENSP00000261835:R58H	ENSP00000261835:R58H	R	+	2	0	CYP46A1	99227224	0.994000	0.37717	0.998000	0.56505	0.979000	0.70002	1.873000	0.39558	2.319000	0.78375	0.563000	0.77884	CGT		PASS	0.498	CYP46A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413814.1			5	275	5	275	---	---	---	---
IGHV4-28	28400	broad.mit.edu	37	14	106780810	106780810	+	RNA	SNP	C	C	A			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr14:106780810C>A	ENST00000390612.2	-	0	125									immunoglobulin heavy variable 4-28																		GCACCTGGGACAGGACCACTG	0.592																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							42.0	51.0	48.0					14																	106780810		1888	4114	6002			8755							g.chr14:106780810C>A	X05714		14q32.33	2012-02-08			ENSG00000211952	ENSG00000211952		"""Immunoglobulins / IGH locus"""	5645	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152062		14.37:g.106780810C>A														413		-									RNA	SNP	ENST00000390612.2	37	c.15052G>T																																																																																					PASS	0.592	IGHV4-28-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325156.1	NG_001019		9	68	9	68	---	---	---	---
ASB7	140460	broad.mit.edu	37	15	101188614	101188614	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr15:101188614C>G	ENST00000332783.7	+	6	1689	c.904C>G	c.(904-906)Cca>Gca	p.P302A	ASB7_ENST00000558747.1_Missense_Mutation_p.P100A	NM_198243.2	NP_937886.1	Q9H672	ASB7_HUMAN	ankyrin repeat and SOCS box containing 7	302	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.P302A(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)	16	Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)			TGATGAACTACCAATTGCCAA	0.373																																						uc002bwk.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(904-906)CCA>GCA		ankyrin repeat and SOCS box-containing protein 7							108.0	99.0	102.0					15																	101188614		2203	4300	6503	SO:0001583	missense	140460				intracellular signal transduction			g.chr15:101188614C>G		CCDS10387.1, CCDS10388.1	15q26.3	2013-01-10	2011-01-25		ENSG00000183475	ENSG00000183475		"""Ankyrin repeat domain containing"""	17182	protein-coding gene	gene with protein product		615052	"""ankyrin repeat and SOCS box-containing 7"""				Standard	NM_024708		Approved		uc002bwk.3	Q9H672	OTTHUMG00000149868	ENST00000332783.7:c.904C>G	15.37:g.101188614C>G	ENSP00000328327:p.Pro302Ala						p.P302A	NM_198243	NP_937886	Q9H672	ASB7_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		6	1673	+	Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852)		302			SOCS box.		A8K1E5|Q6GSJ6|Q7Z4S3	Missense_Mutation	SNP	ENST00000332783.7	37	c.904C>G	CCDS10387.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.607779	0.87258	.	.	ENSG00000183475	ENST00000332783	T	0.63580	-0.05	5.51	5.51	0.81932	SOCS protein, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.80391	0.4614	M	0.80746	2.51	0.80722	D	1	D	0.62365	0.991	D	0.66602	0.945	T	0.81703	-0.0812	10	0.56958	D	0.05	-12.4064	19.451	0.94867	0.0:1.0:0.0:0.0	.	302	Q9H672	ASB7_HUMAN	A	302	ENSP00000328327:P302A	ENSP00000328327:P302A	P	+	1	0	ASB7	99006137	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	7.303000	0.78871	2.593000	0.87608	0.655000	0.94253	CCA		PASS	0.373	ASB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313617.1	NM_024708		56	72	56	72	---	---	---	---
CLCN7	1186	broad.mit.edu	37	16	1505780	1505780	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr16:1505780G>C	ENST00000382745.4	-	11	1538	c.933C>G	c.(931-933)agC>agG	p.S311R	CLCN7_ENST00000448525.1_Missense_Mutation_p.S287R|CLCN7_ENST00000262318.8_Missense_Mutation_p.S287R	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	311					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.S311R(1)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				CCTCCTCCAAGCTGAACAGGA	0.642																																						uc002clv.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(931-933)AGC>AGG		chloride channel 7 isoform a							102.0	82.0	89.0					16																	1505780		2199	4300	6499	SO:0001583	missense	1186					integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr16:1505780G>C	Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ion channels / Chloride channels : Voltage-sensitive"""	2025	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 63"""	602727	"""chloride channel 7"""			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.933C>G	16.37:g.1505780G>C	ENSP00000372193:p.Ser311Arg					CLCN7_uc002clw.2_Missense_Mutation_p.S287R	p.S311R	NM_001287	NP_001278	P51798	CLCN7_HUMAN			11	1043	-		Hepatocellular(780;0.0893)	311					A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Missense_Mutation	SNP	ENST00000382745.4	37	c.933C>G	CCDS32361.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.583354	0.46006	.	.	ENSG00000103249	ENST00000448525;ENST00000262318;ENST00000382745;ENST00000428756	D;D	0.94576	-3.46;-3.46	5.13	3.14	0.36123	Chloride channel, core (2);	0.084158	0.85682	D	0.000000	D	0.97879	0.9303	H	0.97051	3.93	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.996;0.999	D	0.97777	1.0230	10	0.87932	D	0	-49.4395	10.4174	0.44329	0.1651:0.0:0.8349:0.0	.	287;311	E9PDB9;P51798	.;CLCN7_HUMAN	R	287;264;311;253	ENSP00000410907:S287R;ENSP00000372193:S311R	ENSP00000262318:S264R	S	-	3	2	CLCN7	1445781	1.000000	0.71417	1.000000	0.80357	0.339000	0.28857	2.103000	0.41806	1.149000	0.42402	0.313000	0.20887	AGC		PASS	0.642	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103598.2	NM_001287		5	50	5	50	---	---	---	---
TXNDC11	51061	broad.mit.edu	37	16	11785786	11785786	+	Silent	SNP	C	C	A	rs199847533		TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr16:11785786C>A	ENST00000356957.3	-	9	1448	c.1341G>T	c.(1339-1341)gcG>gcT	p.A447A	TXNDC11_ENST00000283033.5_Silent_p.A420A|TXNDC11_ENST00000570917.1_5'Flank			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	447					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)	p.A420A(1)		endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						AGCAGGGGGACGCTGTGATCG	0.642																																						uc010buu.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1339-1341)GCG>GCT		thioredoxin domain containing 11							42.0	39.0	40.0					16																	11785786		2197	4300	6497	SO:0001819	synonymous_variant	51061				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane		g.chr16:11785786C>A	BC013727	CCDS32387.1	16p13.13	2008-09-29				ENSG00000153066			28030	protein-coding gene	gene with protein product	"""EF-hand binding protein 1"""					8619474, 9110174	Standard	XM_005255346		Approved	EFP1	uc002dbg.1	Q6PKC3		ENST00000356957.3:c.1341G>T	16.37:g.11785786C>A						TXNDC11_uc002dbg.1_Silent_p.A420A	p.A447A	NM_015914	NP_056998	Q6PKC3	TXD11_HUMAN			9	1403	-			447					O95887|Q6PJA6|Q8N2Q4|Q96K45|Q96K53	Silent	SNP	ENST00000356957.3	37	c.1341G>T																																																																																					PASS	0.642	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000437057.1	NM_015914		3	45	3	45	---	---	---	---
SPNS1	83985	broad.mit.edu	37	16	28995152	28995152	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr16:28995152G>T	ENST00000311008.11	+	11	1743	c.1366G>T	c.(1366-1368)Gag>Tag	p.E456*	LAT_ENST00000395461.3_5'Flank|SPNS1_ENST00000352260.7_Nonsense_Mutation_p.E382*|SPNS1_ENST00000565975.1_Nonsense_Mutation_p.E501*|SPNS1_ENST00000323081.8_Nonsense_Mutation_p.E383*|LAT_ENST00000564277.1_5'Flank|LAT_ENST00000395456.2_5'Flank|SPNS1_ENST00000334536.8_Nonsense_Mutation_p.E404*|LAT_ENST00000454369.2_5'Flank|LAT_ENST00000354453.4_5'Flank|LAT_ENST00000566177.1_5'Flank|LAT_ENST00000360872.5_5'Flank|RP11-264B17.3_ENST00000569969.1_RNA	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	456					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrial inner membrane (GO:0005743)		p.E456*(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						CTTCTTGTCCGAGTTCCGGGC	0.642																																						uc010vdi.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1366-1368)GAG>TAG		spinster homolog 1 isoform 1							60.0	65.0	63.0					16																	28995152		2197	4300	6497	SO:0001587	stop_gained	83985				lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding	g.chr16:28995152G>T	BC006156	CCDS10646.1, CCDS45452.1, CCDS45453.1, CCDS45454.1	16p11.2	2007-04-12			ENSG00000169682	ENSG00000169682			30621	protein-coding gene	gene with protein product		612583				11340170, 12815463	Standard	NM_032038		Approved	HSpin1, nrs, SPINL, PP2030, SPIN1, LAT	uc010vdi.1	Q9H2V7	OTTHUMG00000131762	ENST00000311008.11:c.1366G>T	16.37:g.28995152G>T	ENSP00000309945:p.Glu456*					uc010vct.1_Intron|SPNS1_uc002drx.2_Nonsense_Mutation_p.E383*|SPNS1_uc002dsa.2_Nonsense_Mutation_p.E456*|SPNS1_uc002drz.2_Nonsense_Mutation_p.E404*|SPNS1_uc010byp.2_Nonsense_Mutation_p.E382*|SPNS1_uc010byq.1_Intron|LAT_uc010vdj.1_5'Flank|LAT_uc002dsb.2_5'Flank|LAT_uc002dsd.2_5'Flank|LAT_uc002dsc.2_5'Flank|LAT_uc010vdk.1_5'Flank|LAT_uc010vdl.1_5'Flank	p.E456*	NM_001142448	NP_001135920	Q9H2V7	SPNS1_HUMAN			12	1506	+			456					B5MDM9|Q6P182|Q71RB5|Q7L541|Q86VU7|Q8N953|Q8TCS5|Q9BRN5	Nonsense_Mutation	SNP	ENST00000311008.11	37	c.1366G>T	CCDS10646.1	.	.	.	.	.	.	.	.	.	.	G	39	7.888167	0.98545	.	.	ENSG00000169682	ENST00000311008;ENST00000334536;ENST00000352260;ENST00000323081	.	.	.	4.61	2.48	0.30137	.	0.213818	0.39475	N	0.001351	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	12.5316	0.56117	0.0:0.4714:0.5286:0.0	.	.	.	.	X	456;404;382;383	.	ENSP00000309945:E456X	E	+	1	0	SPNS1	28902653	0.934000	0.31675	1.000000	0.80357	0.996000	0.88848	1.148000	0.31614	1.126000	0.42016	0.555000	0.69702	GAG		PASS	0.642	SPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254690.2	NM_032038		53	103	53	103	---	---	---	---
ZNF689	115509	broad.mit.edu	37	16	30616439	30616439	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr16:30616439G>A	ENST00000287461.3	-	3	986	c.649C>T	c.(649-651)Cgc>Tgc	p.R217C	RP11-146F11.5_ENST00000563540.1_RNA|ZNF689_ENST00000566673.1_5'UTR	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	zinc finger protein 689	217					regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R217C(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			AGGTTCTTGCGCTGGGAGAAA	0.612																																						uc002dyx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(649-651)CGC>TGC		zinc finger protein HIT-39							88.0	79.0	82.0					16																	30616439		2197	4300	6497	SO:0001583	missense	115509				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30616439G>A	BC014000	CCDS10686.1	16p11.2	2013-01-08			ENSG00000156853	ENSG00000156853		"""Zinc fingers, C2H2-type"", ""-"""	25173	protein-coding gene	gene with protein product							Standard	NM_138447		Approved	FLJ90415	uc031qvq.1	Q96CS4	OTTHUMG00000132415	ENST00000287461.3:c.649C>T	16.37:g.30616439G>A	ENSP00000287461:p.Arg217Cys					ZNF689_uc010bzy.2_5'UTR	p.R217C	NM_138447	NP_612456	Q96CS4	ZN689_HUMAN	Colorectal(24;0.198)		3	969	-			217			C2H2-type 3.		Q658J5	Missense_Mutation	SNP	ENST00000287461.3	37	c.649C>T	CCDS10686.1	.	.	.	.	.	.	.	.	.	.	g	17.13	3.310737	0.60414	.	.	ENSG00000156853	ENST00000287461;ENST00000443190	T	0.16073	2.37	4.75	2.67	0.31697	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38663	N	0.001615	T	0.34803	0.0910	M	0.79258	2.445	0.45139	D	0.998154	D	0.89917	1.0	D	0.64877	0.93	T	0.07558	-1.0766	10	0.49607	T	0.09	-21.8544	7.5082	0.27558	0.0924:0.0:0.7369:0.1707	.	217	Q96CS4	ZN689_HUMAN	C	217	ENSP00000287461:R217C	ENSP00000287461:R217C	R	-	1	0	ZNF689	30523940	0.000000	0.05858	1.000000	0.80357	0.847000	0.48162	0.250000	0.18235	1.163000	0.42636	0.455000	0.32223	CGC		PASS	0.612	ZNF689-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255552.1	NM_138447		21	118	21	118	---	---	---	---
SHCBP1	79801	broad.mit.edu	37	16	46655228	46655228	+	Missense_Mutation	SNP	G	G	C	rs140408371	byFrequency	TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr16:46655228G>C	ENST00000303383.3	-	1	310	c.44C>G	c.(43-45)gCc>gGc	p.A15G	RP11-46D6.1_ENST00000574180.1_lincRNA|SHCBP1_ENST00000564272.1_5'UTR	NM_024745.4	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	15					fibroblast growth factor receptor signaling pathway (GO:0008543)|regulation of neural precursor cell proliferation (GO:2000177)			p.A15G(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				CGGCGCCATGGCCGCTGCCTC	0.687																																						uc002eec.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(43-45)GCC>GGC		SHC SH2-domain binding protein 1							26.0	32.0	30.0					16																	46655228		2163	4239	6402	SO:0001583	missense	79801							g.chr16:46655228G>C	AK055931	CCDS10720.1	16q11	2008-02-05			ENSG00000171241	ENSG00000171241			29547	protein-coding gene	gene with protein product		611027				10086341	Standard	NM_024745		Approved	FLJ22009	uc002eec.4	Q8NEM2	OTTHUMG00000132540	ENST00000303383.3:c.44C>G	16.37:g.46655228G>C	ENSP00000306473:p.Ala15Gly						p.A15G	NM_024745	NP_079021	Q8NEM2	SHCBP_HUMAN			1	84	-		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)	15					Q96N60|Q9BVS0|Q9H6P6	Missense_Mutation	SNP	ENST00000303383.3	37	c.44C>G	CCDS10720.1	.	.	.	.	.	.	.	.	.	.	.	12.78	2.040742	0.35989	.	.	ENSG00000171241	ENST00000303383	T	0.25085	1.82	3.65	0.128	0.14733	.	0.504912	0.17442	N	0.174076	T	0.14787	0.0357	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15752	-1.0426	10	0.42905	T	0.14	-2.8669	1.8705	0.03207	0.1211:0.2032:0.4673:0.2084	.	15	Q8NEM2	SHCBP_HUMAN	G	15	ENSP00000306473:A15G	ENSP00000306473:A15G	A	-	2	0	SHCBP1	45212729	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.139000	0.16036	0.303000	0.22785	0.591000	0.81541	GCC		PASS	0.687	SHCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255740.1	NM_024745		9	72	9	72	---	---	---	---
CDH15	1013	broad.mit.edu	37	16	89261398	89261398	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr16:89261398C>G	ENST00000289746.2	+	14	2345	c.2280C>G	c.(2278-2280)gaC>gaG	p.D760E		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	760					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D760E(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GCGATGAGGACCAGGACTACG	0.657																																						uc002fmt.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2278-2280)GAC>GAG		cadherin 15 preproprotein							34.0	31.0	32.0					16																	89261398		2176	4287	6463	SO:0001583	missense	1013				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding	g.chr16:89261398C>G	D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"""Cadherins / Major cadherins"""	1754	protein-coding gene	gene with protein product		114019	"""cadherin 15, M-cadherin (myotubule)"""	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.2280C>G	16.37:g.89261398C>G	ENSP00000289746:p.Asp760Glu						p.D760E	NM_004933	NP_004924	P55291	CAD15_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0261)	14	2357	+			760			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000289746.2	37	c.2280C>G	CCDS10976.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.580814	0.46006	.	.	ENSG00000129910	ENST00000289746	T	0.75704	-0.96	4.83	1.81	0.25067	Cadherin, cytoplasmic domain (1);	0.000000	0.53938	D	0.000044	T	0.76870	0.4048	L	0.50919	1.6	0.41875	D	0.990299	D	0.56746	0.977	P	0.62491	0.903	T	0.72330	-0.4326	10	0.33141	T	0.24	.	8.8817	0.35378	0.0:0.7444:0.0:0.2556	.	760	P55291	CAD15_HUMAN	E	760	ENSP00000289746:D760E	ENSP00000289746:D760E	D	+	3	2	CDH15	87788899	0.998000	0.40836	0.996000	0.52242	0.108000	0.19459	0.628000	0.24522	0.461000	0.27071	-0.254000	0.11334	GAC		PASS	0.657	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269920.1	NM_004933		5	17	5	17	---	---	---	---
MYH13	8735	broad.mit.edu	37	17	10216611	10216611	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr17:10216611C>T	ENST00000418404.3	-	29	4208	c.4045G>A	c.(4045-4047)Gaa>Aaa	p.E1349K	MYH13_ENST00000252172.4_Missense_Mutation_p.E1349K|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1349					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.E1349K(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCATACTGTTCCCGCAGCAGG	0.592																																						uc002gmk.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)	6						c.(4045-4047)GAA>AAA		myosin, heavy polypeptide 13, skeletal muscle							137.0	124.0	129.0					17																	10216611		2203	4298	6501	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10216611C>T	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.4045G>A	17.37:g.10216611C>T	ENSP00000404570:p.Glu1349Lys						p.E1349K	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			30	4135	-			1349			Potential.		O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.4045G>A	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	33	5.225283	0.95173	.	.	ENSG00000006788	ENST00000252172	D	0.85339	-1.97	3.95	3.95	0.45737	Myosin tail (1);	.	.	.	.	D	0.94608	0.8262	H	0.95884	3.735	0.47862	D	0.99953	D	0.53885	0.963	D	0.68765	0.96	D	0.96516	0.9382	9	0.87932	D	0	.	16.5503	0.84471	0.0:1.0:0.0:0.0	.	1349	Q9UKX3	MYH13_HUMAN	K	1349	ENSP00000252172:E1349K	ENSP00000252172:E1349K	E	-	1	0	MYH13	10157336	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.531000	0.81973	2.202000	0.70862	0.455000	0.32223	GAA		PASS	0.592	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		53	76	53	76	---	---	---	---
CNTNAP1	8506	broad.mit.edu	37	17	40837084	40837084	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr17:40837084C>A	ENST00000264638.4	+	4	656	c.439C>A	c.(439-441)Cgc>Agc	p.R147S	CTD-3193K9.3_ENST00000592440.1_RNA|CCR10_ENST00000591765.1_5'Flank	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	147	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)	p.R147S(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GCGCTACATCCGCATCGTGCC	0.627																																						uc002iay.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8						c.(439-441)CGC>AGC		contactin associated protein 1 precursor							95.0	81.0	86.0					17																	40837084		2203	4300	6503	SO:0001583	missense	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40837084C>A	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.439C>A	17.37:g.40837084C>A	ENSP00000264638:p.Arg147Ser					CNTNAP1_uc010wgs.1_RNA	p.R147S	NM_003632	NP_003623	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	4	655	+		Breast(137;0.000143)	147			Extracellular (Potential).|F5/8 type C.			Missense_Mutation	SNP	ENST00000264638.4	37	c.439C>A	CCDS11436.1	.	.	.	.	.	.	.	.	.	.	C	32	5.147858	0.94603	.	.	ENSG00000108797	ENST00000264638	D	0.99060	-5.38	5.52	4.52	0.55395	Concanavalin A-like lectin/glucanase (1);Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.64402	D	0.000003	D	0.99324	0.9763	M	0.88031	2.925	0.58432	D	0.999992	D	0.76494	0.999	D	0.79108	0.992	D	0.98676	1.0690	10	0.87932	D	0	.	15.7083	0.77602	0.1374:0.8626:0.0:0.0	.	147	P78357	CNTP1_HUMAN	S	147	ENSP00000264638:R147S	ENSP00000264638:R147S	R	+	1	0	CNTNAP1	38090610	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	5.931000	0.70113	2.586000	0.87340	0.561000	0.74099	CGC		PASS	0.627	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		26	73	26	73	---	---	---	---
CA10	56934	broad.mit.edu	37	17	49731086	49731086	+	Silent	SNP	G	G	T			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr17:49731086G>T	ENST00000285273.4	-	6	1588	c.477C>A	c.(475-477)atC>atA	p.I159I	CA10_ENST00000340813.6_Silent_p.I165I|CA10_ENST00000451037.2_Silent_p.I159I|CA10_ENST00000442502.2_Silent_p.I159I|CA10_ENST00000571918.1_5'UTR|CA10_ENST00000570565.1_Silent_p.I84I	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	159					brain development (GO:0007420)			p.I159I(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	GGTTATAGTGGATGAGCTGCA	0.403																																						uc002itw.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(475-477)ATC>ATA		carbonic anhydrase X							87.0	82.0	84.0					17																	49731086		2203	4300	6503	SO:0001819	synonymous_variant	56934				brain development			g.chr17:49731086G>T	AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"""Carbonic anhydrases"""	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.477C>A	17.37:g.49731086G>T						CA10_uc002itu.3_Silent_p.I88I|CA10_uc002itv.3_Silent_p.I165I|CA10_uc002itx.3_Silent_p.I159I|CA10_uc002ity.3_Silent_p.I159I|CA10_uc002itz.2_Silent_p.I159I	p.I159I	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		5	1463	-			159					B2R7J0|B4DGL6	Silent	SNP	ENST00000285273.4	37	c.477C>A	CCDS32684.1																																																																																				PASS	0.403	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000437480.1	NM_020178		23	96	23	96	---	---	---	---
HELZ	9931	broad.mit.edu	37	17	65105343	65105343	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr17:65105343C>T	ENST00000358691.5	-	29	4544	c.4378G>A	c.(4378-4380)Gaa>Aaa	p.E1460K	HELZ_ENST00000580168.1_Missense_Mutation_p.E1461K	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	1460						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.E1460K(1)		NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CTGTGGCCTTCTTGCAGCATG	0.517																																						uc010wqk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(4381-4383)GAA>AAA		helicase with zinc finger domain							69.0	76.0	74.0					17																	65105343		2010	4182	6192	SO:0001583	missense	9931							g.chr17:65105343C>T	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.4378G>A	17.37:g.65105343C>T	ENSP00000351524:p.Glu1460Lys					HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.E1460K|HELZ_uc010der.2_Missense_Mutation_p.E4K	p.E1461K	NM_014877	NP_055692					29	4568	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	37	c.4381G>A	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.163096	0.57476	.	.	ENSG00000198265	ENST00000358691	D	0.83335	-1.71	5.9	5.9	0.94986	.	0.378221	0.32884	N	0.005536	T	0.76133	0.3945	L	0.27053	0.805	0.39020	D	0.959734	B;B	0.17667	0.023;0.023	B;B	0.14023	0.01;0.01	T	0.69355	-0.5167	10	0.23302	T	0.38	-3.3605	20.2799	0.98512	0.0:1.0:0.0:0.0	.	1461;1460	B7ZLW2;P42694	.;HELZ_HUMAN	K	1460	ENSP00000351524:E1460K	ENSP00000351524:E1460K	E	-	1	0	HELZ	62535805	0.999000	0.42202	0.796000	0.32109	0.997000	0.91878	5.239000	0.65371	2.804000	0.96469	0.549000	0.68633	GAA		PASS	0.517	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		48	87	48	87	---	---	---	---
CDC42EP4	23580	broad.mit.edu	37	17	71282411	71282412	+	Missense_Mutation	DNP	TG	TG	CC			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr17:71282411_71282412TG>CC	ENST00000335793.3	-	2	622_623	c.228_229CA>GG	c.(226-231)cgCAgt>cgGGgt	p.S77G	CDC42EP4_ENST00000581014.1_Intron|CDC42EP4_ENST00000439510.2_Intron			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	77					positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	GTP-Rho binding (GO:0017049)|poly(A) RNA binding (GO:0044822)	p.S77G(2)|p.R76R(1)		cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			GACAGGAGACTGCGTTTGGAAG	0.644																																						uc002jjn.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)		0						c.(229-231)AGT>GGT|c.(226-228)CGC>CGG		Cdc42 effector protein 4																																				SO:0001583	missense	23580				positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding	g.chr17:71282411T>C|g.chr17:71282412G>C	AB042237	CCDS11695.1	17q24-q25	2008-07-18				ENSG00000179604			17147	protein-coding gene	gene with protein product	"""Cdc42 effector protein 4"", ""binder of Rho GTPases 4"""	605468				11035016, 10490598	Standard	NM_012121		Approved	CEP4, KAIA1777, BORG4, MGC3740, MGC17125	uc002jjo.3	Q9H3Q1		ENST00000335793.3:c.228_229delinsCC	17.37:g.71282411_71282412delinsCC	ENSP00000338258:p.Ser77Gly					CDC42EP4_uc002jjo.2_Missense_Mutation_p.S77G|CDC42EP4_uc002jjp.1_Intron|CDC42EP4_uc002jjo.2_Silent_p.R76R|CDC42EP4_uc002jjp.1_Intron	p.S77G|p.R76R	NM_012121	NP_036253	Q9H3Q1	BORG4_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)		2	376|375	-			77|76					B3KUS7|O95828|Q96FT3	Missense_Mutation|Silent	SNP	ENST00000335793.3	37	c.229A>G|c.228C>G	CCDS11695.1																																																																																				PASS	0.644	CDC42EP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441898.1	NM_012121		24	92	24	92	---	---	---	---
NARF	26502	broad.mit.edu	37	17	80417879	80417879	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr17:80417879G>T	ENST00000309794.11	+	2	237	c.39G>T	c.(37-39)aaG>aaT	p.K13N	NARF_ENST00000457415.3_Missense_Mutation_p.K13N|RP13-20L14.6_ENST00000579095.1_RNA|RP13-20L14.6_ENST00000578344.1_RNA|NARF_ENST00000412079.2_5'UTR|NARF_ENST00000345415.7_Missense_Mutation_p.K13N|NARF_ENST00000581743.1_3'UTR|NARF_ENST00000390006.4_5'UTR	NM_012336.3|NM_031968.2	NP_036468.1|NP_114174.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor	13						lamin filament (GO:0005638)|nuclear lamina (GO:0005652)|nuclear lumen (GO:0031981)|nucleus (GO:0005634)	lamin binding (GO:0005521)	p.K13N(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			AATGTAGTAAGAAAACAAAAA	0.393																																						uc002kfg.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(37-39)AAG>AAT		nuclear prelamin A recognition factor isoform a							96.0	94.0	95.0					17																	80417879		2203	4300	6503	SO:0001583	missense	26502					lamin filament	lamin binding	g.chr17:80417879G>T	BC000438	CCDS32777.1, CCDS42403.1, CCDS42404.1	17q25.3	2011-12-19			ENSG00000141562	ENSG00000141562			29916	protein-coding gene	gene with protein product	"""iron-only hydrogenase-like protein 2"""	605349				10514485, 15667261	Standard	NM_031968		Approved	FLJ10067, DKFZp434G0420, IOP2	uc002kfg.4	Q9UHQ1		ENST00000309794.11:c.39G>T	17.37:g.80417879G>T	ENSP00000309899:p.Lys13Asn					NARF_uc002kff.3_5'UTR|NARF_uc010wvo.1_Missense_Mutation_p.K13N|NARF_uc010wvp.1_5'UTR|NARF_uc010dit.2_Missense_Mutation_p.K13N|NARF_uc002kfj.3_Missense_Mutation_p.K13N|NARF_uc002kfi.3_RNA|NARF_uc002kfh.3_Missense_Mutation_p.K13N	p.K13N	NM_012336	NP_036468	Q9UHQ1	NARF_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)		2	179	+	Breast(20;0.00106)|all_neural(118;0.0804)		13					A6NCJ3|B3KPX2|K4DI98|Q96AY9|Q9BWC6	Missense_Mutation	SNP	ENST00000309794.11	37	c.39G>T	CCDS32777.1	.	.	.	.	.	.	.	.	.	.	G	10.10	1.257736	0.22965	.	.	ENSG00000141562	ENST00000374611;ENST00000309794;ENST00000345415;ENST00000457415	T;T;T	0.56103	0.83;0.48;0.78	4.18	-4.08	0.03963	.	0.000000	0.85682	D	0.000000	T	0.62221	0.2410	M	0.68952	2.095	0.80722	D	1	D;D;P;D;P	0.62365	0.991;0.99;0.947;0.983;0.927	D;D;P;D;P	0.70227	0.952;0.968;0.789;0.93;0.856	T	0.61491	-0.7052	10	0.41790	T	0.15	-15.5011	11.6106	0.51057	0.4012:0.0:0.5988:0.0	.	13;13;13;13;13	B4DND8;Q9UHQ1-2;Q9UHQ1-3;E9PH27;Q9UHQ1	.;.;.;.;NARF_HUMAN	N	13	ENSP00000309899:K13N;ENSP00000283996:K13N;ENSP00000414678:K13N	ENSP00000309899:K13N	K	+	3	2	NARF	78011168	0.977000	0.34250	0.941000	0.38009	0.865000	0.49528	-0.046000	0.11983	-1.009000	0.03400	-0.485000	0.04761	AAG		PASS	0.393	NARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443573.2	NM_031968		12	76	12	76	---	---	---	---
ADCYAP1	116	broad.mit.edu	37	18	905462	905462	+	Silent	SNP	A	A	C			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr18:905462A>C	ENST00000579794.1	+	1	353	c.75A>C	c.(73-75)tcA>tcC	p.S25S	RP11-672L10.2_ENST00000577358.1_RNA|RP11-672L10.3_ENST00000582554.1_RNA|ADCYAP1_ENST00000450565.3_Silent_p.S25S|RP11-672L10.2_ENST00000581719.2_RNA|RP11-672L10.2_ENST00000580612.1_RNA	NM_001117.3	NP_001108.2	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary)	25					activation of adenylate cyclase activity (GO:0007190)|ATP metabolic process (GO:0046034)|behavioral fear response (GO:0001662)|cAMP-mediated signaling (GO:0019933)|cell-cell signaling (GO:0007267)|cellular response to glucocorticoid stimulus (GO:0071385)|female pregnancy (GO:0007565)|histamine secretion (GO:0001821)|negative regulation of acute inflammatory response to antigenic stimulus (GO:0002865)|negative regulation of acute inflammatory response to non-antigenic stimulus (GO:0002878)|negative regulation of cell cycle (GO:0045786)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of Rho GTPase activity (GO:0034259)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|pituitary gland development (GO:0021983)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of somatostatin secretion (GO:0090274)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasodilation (GO:0045909)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)|regulation of postsynaptic membrane potential (GO:0060078)|regulation of protein localization (GO:0032880)|response to ethanol (GO:0045471)|response to starvation (GO:0042594)|sensory perception of pain (GO:0019233)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|terminal bouton (GO:0043195)	neuropeptide hormone activity (GO:0005184)|peptide hormone receptor binding (GO:0051428)|pituitary adenylate cyclase activating polypeptide activity (GO:0016521)|receptor binding (GO:0005102)|receptor signaling protein activity (GO:0005057)	p.S25S(1)		endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						TCTACAGCTCACCTGCCGCCG	0.637																																						uc010dkg.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(73-75)TCA>TCC		adenylate cyclase activating polypeptide							66.0	61.0	63.0					18																	905462		2203	4300	6503	SO:0001819	synonymous_variant	116				activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|peptide hormone receptor binding	g.chr18:905462A>C	S83513	CCDS11825.1	18p11	2013-02-28			ENSG00000141433	ENSG00000141433		"""Endogenous ligands"""	241	protein-coding gene	gene with protein product	"""prepro-PACAP"""	102980				1730060	Standard	NM_001099733		Approved	PACAP	uc010dkh.4	P18509	OTTHUMG00000131479	ENST00000579794.1:c.75A>C	18.37:g.905462A>C						ADCYAP1_uc010dkh.2_Silent_p.S25S	p.S25S	NM_001099733	NP_001093203	P18509	PACA_HUMAN			2	194	+			25					B2R7N4|Q52LQ0	Silent	SNP	ENST00000579794.1	37	c.75A>C	CCDS11825.1																																																																																				PASS	0.637	ADCYAP1-003	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440765.3	NM_001117		7	47	7	47	---	---	---	---
TCEB3B	51224	broad.mit.edu	37	18	44561086	44561086	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr18:44561086G>T	ENST00000332567.4	-	1	902	c.550C>A	c.(550-552)Cct>Act	p.P184T	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	184					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P184T(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GCGGGCTCAGGGCCCTCGGGC	0.701																																						uc002lcr.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|pancreas(1)	4						c.(550-552)CCT>ACT		elongin A2							27.0	32.0	31.0					18																	44561086		2188	4285	6473	SO:0001583	missense	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44561086G>T	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.550C>A	18.37:g.44561086G>T	ENSP00000331302:p.Pro184Thr					KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	p.P184T	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN			1	903	-			184					Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	37	c.550C>A	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	g	5.022	0.189766	0.09547	.	.	ENSG00000206181	ENST00000332567	T	0.06687	3.27	2.25	-3.41	0.04839	.	1.711970	0.03954	N	0.289001	T	0.06508	0.0167	L	0.44542	1.39	0.09310	N	1	B	0.32245	0.361	B	0.25140	0.058	T	0.30149	-0.9988	10	0.27082	T	0.32	0.0799	4.3672	0.11230	0.4952:0.1774:0.3274:0.0	.	184	Q8IYF1	ELOA2_HUMAN	T	184	ENSP00000331302:P184T	ENSP00000331302:P184T	P	-	1	0	TCEB3B	42815084	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.097000	0.11042	-1.018000	0.03363	-1.668000	0.00747	CCT		PASS	0.701	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		35	67	35	67	---	---	---	---
SALL3	27164	broad.mit.edu	37	18	76755137	76755137	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr18:76755137C>A	ENST00000537592.2	+	2	3146	c.3146C>A	c.(3145-3147)aCt>aAt	p.T1049N	SALL3_ENST00000575389.2_Missense_Mutation_p.T977N|SALL3_ENST00000536229.3_Missense_Mutation_p.T844N	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1049					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T1049N(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		AGCCAAAGCACTCCTAGCCTG	0.547																																						uc002lmt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(3145-3147)ACT>AAT		sal-like 3							91.0	90.0	90.0					18																	76755137		2203	4300	6503	SO:0001583	missense	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76755137C>A	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.3146C>A	18.37:g.76755137C>A	ENSP00000441823:p.Thr1049Asn					SALL3_uc010dra.2_Missense_Mutation_p.T584N	p.T1049N	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	2	3146	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	1049					Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	c.3146C>A	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.069498	0.55539	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.08896	3.04	4.85	4.85	0.62838	.	0.340463	0.23791	N	0.044535	T	0.06142	0.0159	N	0.24115	0.695	0.58432	D	0.999995	P;P	0.42409	0.514;0.779	B;B	0.34242	0.075;0.178	T	0.49835	-0.8897	10	0.15952	T	0.53	-11.2139	17.9781	0.89132	0.0:1.0:0.0:0.0	.	709;1049	F5GXY4;Q9BXA9	.;SALL3_HUMAN	N	1049;977;709	ENSP00000441823:T1049N	ENSP00000299466:T1049N	T	+	2	0	SALL3	74856125	0.984000	0.35163	0.971000	0.41717	0.919000	0.55068	3.604000	0.54081	2.228000	0.72767	0.462000	0.41574	ACT		PASS	0.547	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		11	65	11	65	---	---	---	---
ATP8B3	148229	broad.mit.edu	37	19	1789540	1789540	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr19:1789540G>A	ENST00000310127.6	-	23	2903	c.2665C>T	c.(2665-2667)Cgt>Tgt	p.R889C	ATP8B3_ENST00000525591.1_Missense_Mutation_p.R852C|ATP8B3_ENST00000539485.1_Missense_Mutation_p.R899C	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	889					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.R899C(1)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGGAGCTACGGCGGGCTCTG	0.692																																						uc002ltw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2665-2667)CGT>TGT		ATPase, class I, type 8B, member 3							10.0	12.0	11.0					19																	1789540		1980	4131	6111	SO:0001583	missense	148229				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr19:1789540G>A	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	13535	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.2665C>T	19.37:g.1789540G>A	ENSP00000311336:p.Arg889Cys					ATP8B3_uc002ltv.2_Missense_Mutation_p.R852C|ATP8B3_uc002ltx.2_RNA	p.R889C	NM_138813	NP_620168	O60423	AT8B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	23	2899	-		Hepatocellular(1079;0.137)	889			Cytoplasmic (Potential).		Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	ENST00000310127.6	37	c.2665C>T	CCDS45901.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.637337	0.47049	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591	T;T;T	0.59224	0.28;0.4;0.37	3.11	-0.799	0.10901	HAD-like domain (1);	2.890130	0.01644	N	0.024225	T	0.51975	0.1706	N	0.14661	0.345	0.09310	N	1	D;D	0.71674	0.997;0.998	P;P	0.54174	0.663;0.744	T	0.46735	-0.9170	10	0.56958	D	0.05	.	6.7222	0.23336	0.0:0.3079:0.5684:0.1237	.	889;852	O60423;Q7Z485	AT8B3_HUMAN;.	C	889;899;852	ENSP00000311336:R889C;ENSP00000443574:R899C;ENSP00000437115:R852C	ENSP00000311336:R889C	R	-	1	0	ATP8B3	1740540	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.243000	0.18106	-0.143000	0.11334	-0.430000	0.05897	CGT		PASS	0.692	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		7	15	7	15	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9049179	9049179	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr19:9049179G>A	ENST00000397910.4	-	5	32655	c.32452C>T	c.(32452-32454)Cca>Tca	p.P10818S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10820	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.P6451S(1)|p.P10818S(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTTGTAGCTGGTTCACCAGGG	0.488																																						uc002mkp.2																			2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(32452-32454)CCA>TCA		mucin 16							190.0	172.0	178.0					19																	9049179		1966	4161	6127	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9049179G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.32452C>T	19.37:g.9049179G>A	ENSP00000381008:p.Pro10818Ser						p.P10818S	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			5	32656	-			10820			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.32452C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	7.823	0.718115	0.15372	.	.	ENSG00000181143	ENST00000397910	T	0.03124	4.04	3.11	-5.84	0.02318	.	.	.	.	.	T	0.02380	0.0073	N	0.20986	0.625	.	.	.	B	0.24576	0.106	B	0.22880	0.042	T	0.45381	-0.9265	8	0.87932	D	0	.	5.0373	0.14441	0.4057:0.0:0.4547:0.1395	.	10818	B5ME49	.	S	10818	ENSP00000381008:P10818S	ENSP00000381008:P10818S	P	-	1	0	MUC16	8910179	0.000000	0.05858	0.000000	0.03702	0.114000	0.19823	-0.633000	0.05483	-1.167000	0.02779	0.473000	0.43528	CCA		PASS	0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		91	191	91	191	---	---	---	---
ZNF430	80264	broad.mit.edu	37	19	21240364	21240364	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr19:21240364C>T	ENST00000261560.5	+	5	1431	c.1250C>T	c.(1249-1251)aCt>aTt	p.T417I	AC012627.1_ENST00000578233.1_RNA	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	417					regulation of transcription, DNA-templated (GO:0006355)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T417I(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						TCGACCCTTACTAAACATAAA	0.348																																						uc002npj.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(1249-1251)ACT>ATT		zinc finger protein 430							28.0	31.0	30.0					19																	21240364		2200	4293	6493	SO:0001583	missense	80264				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21240364C>T	AK023721	CCDS32978.1	19p12	2013-01-08				ENSG00000118620		"""Zinc fingers, C2H2-type"", ""-"""	20808	protein-coding gene	gene with protein product							Standard	NM_025189		Approved	FLJ13659	uc002npj.3	Q9H8G1		ENST00000261560.5:c.1250C>T	19.37:g.21240364C>T	ENSP00000261560:p.Thr417Ile					ZNF430_uc002npk.2_Missense_Mutation_p.T416I	p.T417I	NM_025189	NP_079465	Q9H8G1	ZN430_HUMAN			5	1360	+			417			C2H2-type 8.		Q86V70	Missense_Mutation	SNP	ENST00000261560.5	37	c.1250C>T	CCDS32978.1	.	.	.	.	.	.	.	.	.	.	.	7.373	0.627172	0.14257	.	.	ENSG00000118620	ENST00000261560	T	0.07688	3.17	1.05	-0.11	0.13580	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07098	0.0180	N	0.12887	0.27	0.09310	N	1	D;P	0.54964	0.969;0.595	P;B	0.55545	0.778;0.406	T	0.31223	-0.9951	9	0.36615	T	0.2	.	2.2429	0.04024	0.0:0.3797:0.3432:0.2771	.	416;417	Q2NKJ9;Q9H8G1	.;ZN430_HUMAN	I	417	ENSP00000261560:T417I	ENSP00000261560:T417I	T	+	2	0	ZNF430	21032204	0.000000	0.05858	0.014000	0.15608	0.014000	0.08584	-4.773000	0.00187	0.459000	0.27016	0.462000	0.41574	ACT		PASS	0.348	ZNF430-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463539.1	NM_025189		20	58	20	58	---	---	---	---
TSHZ3	57616	broad.mit.edu	37	19	31769803	31769803	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr19:31769803T>G	ENST00000240587.4	-	2	1223	c.896A>C	c.(895-897)cAc>cCc	p.H299P		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	299					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H116P(1)|p.H299P(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TTTTTGGTAGTGTTTTGTTTT	0.532																																						uc002nsy.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)|pancreas(1)|lung(1)	8						c.(895-897)CAC>CCC		zinc finger protein 537							89.0	85.0	86.0					19																	31769803		2203	4300	6503	SO:0001583	missense	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31769803T>G	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.896A>C	19.37:g.31769803T>G	ENSP00000240587:p.His299Pro						p.H299P	NM_020856	NP_065907	Q63HK5	TSH3_HUMAN			2	961	-	Esophageal squamous(110;0.226)		299			C2H2-type 2.		Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.896A>C	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	T	17.71	3.456288	0.63401	.	.	ENSG00000121297	ENST00000240587	T	0.80653	-1.4	5.67	5.67	0.87782	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.85682	D	0.000000	D	0.87585	0.6214	L	0.54323	1.7	0.80722	D	1	D	0.67145	0.996	D	0.91635	0.999	D	0.88748	0.3248	10	0.87932	D	0	-28.635	15.9132	0.79488	0.0:0.0:0.0:1.0	.	299	Q63HK5	TSH3_HUMAN	P	299	ENSP00000240587:H299P	ENSP00000240587:H299P	H	-	2	0	TSHZ3	36461643	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.698000	0.84413	2.148000	0.66965	0.533000	0.62120	CAC		PASS	0.532	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		15	244	15	244	---	---	---	---
FXYD3	5349	broad.mit.edu	37	19	35613674	35613674	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr19:35613674C>A	ENST00000344013.6	+	6	299	c.103C>A	c.(103-105)Cac>Aac	p.H35N	FXYD3_ENST00000406242.3_Missense_Mutation_p.H35N|FXYD3_ENST00000406988.1_Missense_Mutation_p.H35N|LGI4_ENST00000493050.1_5'Flank|FXYD3_ENST00000346446.5_Missense_Mutation_p.H35N|FXYD3_ENST00000535103.1_Missense_Mutation_p.H92N|FXYD3_ENST00000605550.1_Missense_Mutation_p.H35N|FXYD3_ENST00000603181.1_Missense_Mutation_p.H35N|FXYD3_ENST00000603524.1_Missense_Mutation_p.H64N|FXYD3_ENST00000435734.2_Missense_Mutation_p.H35N|FXYD3_ENST00000604621.1_Missense_Mutation_p.H35N|FXYD3_ENST00000604804.1_Missense_Mutation_p.H64N|FXYD3_ENST00000604255.1_Missense_Mutation_p.H92N|FXYD3_ENST00000604404.1_Missense_Mutation_p.H35N|FXYD3_ENST00000605677.1_Missense_Mutation_p.H35N			Q14802	FXYD3_HUMAN	FXYD domain containing ion transport regulator 3	35					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of catalytic activity (GO:0050790)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)	p.H35N(1)		endometrium(1)|lung(2)|prostate(1)	4	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			CCTAGACTGGCACAGCCTCCA	0.592																																						uc010xsn.1																			1	Substitution - Missense(1)		lung(1)		0						c.(103-105)CAC>AAC		FXYD domain containing ion transport regulator 3							78.0	82.0	80.0					19																	35613674		2203	4300	6503	SO:0001583	missense	5349					chloride channel complex|integral to plasma membrane	chloride channel activity	g.chr19:35613674C>A	X93036	CCDS12442.1, CCDS12443.1, CCDS46048.1, CCDS46049.1, CCDS46050.1	19q13.11-q13.12	2008-05-14	2002-01-14			ENSG00000089356			4027	protein-coding gene	gene with protein product		604996	"""FXYD domain-containing ion transport regulator 3"""	PLML		7836447, 10950925	Standard	NM_005971		Approved	MAT-8	uc010xsm.2	Q14802		ENST00000344013.6:c.103C>A	19.37:g.35613674C>A	ENSP00000339499:p.His35Asn					FXYD3_uc010xsl.1_Missense_Mutation_p.H35N|FXYD3_uc010xsm.1_Missense_Mutation_p.H92N|FXYD3_uc002nxw.2_Missense_Mutation_p.H35N|FXYD3_uc002nxv.2_Missense_Mutation_p.H35N|FXYD3_uc010xso.1_Missense_Mutation_p.H35N	p.H35N	NM_001136011	NP_001129483	Q14802	FXYD3_HUMAN	Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)		7	429	+	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		35			Extracellular (Potential).		A6NDE0|C9JDU2|F5H174|F8WB34|Q13211|Q6IB59	Missense_Mutation	SNP	ENST00000344013.6	37	c.103C>A	CCDS12442.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.673376	0.47781	.	.	ENSG00000089356	ENST00000406242;ENST00000435734;ENST00000346446;ENST00000344013;ENST00000406988;ENST00000535103	T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04	4.97	-1.18	0.09617	.	0.337351	0.29159	N	0.012976	T	0.52677	0.1749	L	0.46157	1.445	0.80722	D	1	P;P;P;B	0.46512	0.879;0.802;0.879;0.411	B;B;P;B	0.46076	0.324;0.33;0.503;0.257	T	0.45101	-0.9284	10	0.36615	T	0.2	-2.588	7.8941	0.29695	0.0:0.5186:0.0:0.4814	.	92;35;35;35	F5H174;F8WB34;Q14802-2;Q14802	.;.;.;FXYD3_HUMAN	N	35;92;35;35;35;92	ENSP00000385412:H35N;ENSP00000328259:H35N;ENSP00000339499:H35N;ENSP00000385200:H35N;ENSP00000443953:H92N	ENSP00000339499:H35N	H	+	1	0	FXYD3	40305514	0.946000	0.32159	0.968000	0.41197	0.847000	0.48162	-0.201000	0.09464	-0.377000	0.07930	0.650000	0.86243	CAC		PASS	0.592	FXYD3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000468985.1	NM_021910		7	222	7	222	---	---	---	---
ZFP82	284406	broad.mit.edu	37	19	36884570	36884570	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr19:36884570T>A	ENST00000392161.3	-	5	914	c.672A>T	c.(670-672)aaA>aaT	p.K224N	ZFP82_ENST00000392171.1_Missense_Mutation_p.K224N	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	224					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K224N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATTCATAGAGTTTTTCACCAG	0.408																																						uc002ody.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(670-672)AAA>AAT		zinc finger protein 82 homolog							121.0	117.0	118.0					19																	36884570		2203	4300	6503	SO:0001583	missense	284406				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36884570T>A	AL834267	CCDS12493.1	19q13.13	2013-01-08	2012-11-27	2008-07-01		ENSG00000181007		"""Zinc fingers, C2H2-type"", ""-"""	28682	protein-coding gene	gene with protein product			"""zinc finger protein 545"", ""zinc finger protein 82 homolog (mouse)"", ""zinc finger protein 82"""	ZNF545		11853319	Standard	NM_133466		Approved	MGC45380, KIAA1948	uc002ody.1	Q8N141		ENST00000392161.3:c.672A>T	19.37:g.36884570T>A	ENSP00000431265:p.Lys224Asn						p.K224N	NM_133466	NP_597723	Q8N141	ZFP82_HUMAN			5	907	-			224					Q8NC63|Q8TF53	Missense_Mutation	SNP	ENST00000392161.3	37	c.672A>T	CCDS12493.1	.	.	.	.	.	.	.	.	.	.	T	15.57	2.872839	0.51695	.	.	ENSG00000181007	ENST00000392161;ENST00000392171	T;T	0.26067	1.76;1.76	4.47	2.26	0.28386	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44483	D	0.000450	T	0.43853	0.1266	M	0.72479	2.2	0.32485	N	0.541037	D	0.89917	1.0	D	0.91635	0.999	T	0.53549	-0.8423	10	0.72032	D	0.01	.	6.652	0.22967	0.0:0.2247:0.0:0.7753	.	224	Q8N141	ZFP82_HUMAN	N	224	ENSP00000431265:K224N;ENSP00000446080:K224N	ENSP00000431265:K224N	K	-	3	2	ZFP82	41576410	0.282000	0.24268	1.000000	0.80357	0.961000	0.63080	-0.445000	0.06845	0.760000	0.33108	-0.250000	0.11733	AAA		PASS	0.408	ZFP82-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109552.2	NM_133466		34	383	34	383	---	---	---	---
SPTBN4	57731	broad.mit.edu	37	19	41081468	41081468	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr19:41081468G>T	ENST00000352632.3	+	36	7774	c.7688G>T	c.(7687-7689)aGg>aTg	p.R2563M	SPTBN4_ENST00000593816.1_3'UTR|SHKBP1_ENST00000291842.5_5'Flank|SPTBN4_ENST00000392025.1_Missense_Mutation_p.R1306M|SHKBP1_ENST00000600733.1_5'Flank|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R2563M			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2563					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.R2563M(1)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGCGGGCGCAGGAAGTGACTT	0.622																																						uc002ony.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(7687-7689)AGG>ATG		spectrin, beta, non-erythrocytic 4 isoform							42.0	32.0	36.0					19																	41081468		2203	4300	6503	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41081468G>T	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.7688G>T	19.37:g.41081468G>T	ENSP00000263373:p.Arg2563Met					SPTBN4_uc002onz.2_Missense_Mutation_p.R2563M|SPTBN4_uc010egx.2_Missense_Mutation_p.R1306M|SHKBP1_uc002oob.2_5'Flank|SHKBP1_uc002ooc.2_5'Flank|SHKBP1_uc002ood.2_5'Flank|SHKBP1_uc010xvl.1_5'Flank|SHKBP1_uc002ooe.2_5'Flank|SHKBP1_uc002oof.2_5'Flank|SHKBP1_uc010xvm.1_5'Flank	p.R2563M	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		36	7774	+			2563					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.7688G>T	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.869348	0.51588	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000392025	T;T	0.79033	-1.23;0.06	4.65	4.65	0.58169	.	0.370585	0.20854	U	0.084466	T	0.61426	0.2346	N	0.08118	0	0.80722	D	1	P;P	0.52316	0.952;0.952	B;P	0.45881	0.359;0.496	T	0.66452	-0.5920	10	0.87932	D	0	.	7.5495	0.27788	0.187:0.0:0.813:0.0	.	1306;2563	C9JY79;Q9H254	.;SPTN4_HUMAN	M	2563;2563;1306	ENSP00000263373:R2563M;ENSP00000375879:R1306M	ENSP00000263373:R2563M	R	+	2	0	SPTBN4	45773308	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	3.916000	0.56416	2.296000	0.77279	0.462000	0.41574	AGG		PASS	0.622	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			5	149	5	149	---	---	---	---
MYH14	79784	broad.mit.edu	37	19	50780014	50780014	+	Splice_Site	SNP	G	G	T			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr19:50780014G>T	ENST00000596571.1	+	26	3558	c.3558G>T	c.(3556-3558)cgG>cgT	p.R1186R	MYH14_ENST00000601313.1_Splice_Site_p.R1227R|MYH14_ENST00000598205.1_Splice_Site_p.R1194R|MYH14_ENST00000425460.1_Splice_Site_p.R1194R|MYH14_ENST00000440075.2_Splice_Site_p.R1227R|MYH14_ENST00000262269.8_Splice_Site_p.R1227R|MYH14_ENST00000376970.2_Splice_Site_p.R1219R			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1186					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.R1227R(1)|p.R1186R(1)		central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CCCAATAAAGGTCCAAGAGGG	0.557																																						uc002prr.1																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(3556-3558)CGG>CGT		myosin, heavy chain 14 isoform 2							45.0	52.0	49.0					19																	50780014		2078	4248	6326	SO:0001630	splice_region_variant	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50780014G>T	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.3558-1G>T	19.37:g.50780014G>T						MYH14_uc010enu.1_Silent_p.R1227R|MYH14_uc002prq.1_Silent_p.R1194R	p.R1186R	NM_024729	NP_079005	Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	27	3605	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	1186			Potential.		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Silent	SNP	ENST00000596571.1	37	c.3558G>T	CCDS59411.1																																																																																				PASS	0.557	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729	Silent	4	87	4	87	---	---	---	---
KLK7	5650	broad.mit.edu	37	19	51480876	51480876	+	Silent	SNP	G	G	A	rs17855561		TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr19:51480876G>A	ENST00000391807.1	-	6	779	c.678C>T	c.(676-678)tgC>tgT	p.C226C	CTB-147C22.9_ENST00000594512.1_RNA|KLK7_ENST00000336317.4_Silent_p.C113C|KLK7_ENST00000597707.1_Silent_p.C154C|KLK7_ENST00000595820.1_Silent_p.C226C	NM_139277.2	NP_644806.1	P49862	KLK7_HUMAN	kallikrein-related peptidase 7	226	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.			C -> W (in Ref. 9; AAH32005). {ECO:0000305}.	epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.C226C(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		TGGGTTGGCCGCAAGGGAAAG	0.517																																						uc002puo.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(676-678)TGC>TGT		stratum corneum chymotryptic enzyme							150.0	129.0	136.0					19																	51480876		2203	4300	6503	SO:0001819	synonymous_variant	5650				epidermis development|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51480876G>A	L33404	CCDS12812.1, CCDS59414.1	19q13.33	2011-09-07	2006-10-27			ENSG00000169035		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6368	protein-coding gene	gene with protein product		604438	"""kallikrein 7 (chymotryptic, stratum corneum)"""	PRSS6		8034709, 16800724, 16800723	Standard	NM_005046		Approved	SCCE	uc021uyj.1	P49862		ENST00000391807.1:c.678C>T	19.37:g.51480876G>A						KLK7_uc002pup.2_Silent_p.C226C|KLK7_uc010yco.1_Silent_p.C100C|KLK7_uc010eok.2_Silent_p.C154C	p.C226C	NM_139277	NP_644806	P49862	KLK7_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)	6	780	-		all_neural(266;0.026)	226	C -> W (in Ref. 6; AAH32005).		Peptidase S1.		A8K0U5|Q8N5N9|Q8NFV7	Silent	SNP	ENST00000391807.1	37	c.678C>T	CCDS12812.1																																																																																				PASS	0.517	KLK7-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464344.1	NM_005046		4	167	4	167	---	---	---	---
COX4I2	84701	broad.mit.edu	37	20	30231265	30231265	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr20:30231265G>A	ENST00000376075.3	+	4	381	c.306G>A	c.(304-306)tgG>tgA	p.W102*	COX4I2_ENST00000490030.1_Intron	NM_032609.2	NP_115998.2	Q96KJ9	COX42_HUMAN	cytochrome c oxidase subunit IV isoform 2 (lung)	102					cellular respiration (GO:0045333)|generation of precursor metabolites and energy (GO:0006091)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)	mitochondrial respiratory chain complex IV (GO:0005751)	cytochrome-c oxidase activity (GO:0004129)	p.W102*(1)		breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			CCAATGAGTGGAAGACAGTGA	0.567																																						uc002wwj.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(304-306)TGG>TGA		cytochrome c oxidase subunit IV isoform 2							229.0	183.0	198.0					20																	30231265		2203	4300	6503	SO:0001587	stop_gained	84701				cellular respiration		cytochrome-c oxidase activity	g.chr20:30231265G>A	AF257180	CCDS13187.1	20q11.21	2011-07-04	2004-08-11		ENSG00000131055	ENSG00000131055		"""Mitochondrial respiratory chain complex / Complex IV"""	16232	protein-coding gene	gene with protein product	"""cytochrome c oxidase subunit IV-like 2"""	607976	"""cytochrome c oxidase subunit IV isoform 2"""	COX4L2		11311561, 17937768	Standard	NM_032609		Approved	COXIV-2, COX4B, dJ857M17.2, COX4-2	uc002wwj.1	Q96KJ9	OTTHUMG00000032180	ENST00000376075.3:c.306G>A	20.37:g.30231265G>A	ENSP00000365243:p.Trp102*					COX4I2_uc002wwi.2_Nonsense_Mutation_p.W102*	p.W102*	NM_032609	NP_115998	Q96KJ9	COX42_HUMAN	Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)		4	381	+	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		102					Q6GTF4|Q9H0Z4	Nonsense_Mutation	SNP	ENST00000376075.3	37	c.306G>A	CCDS13187.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.587253	0.86851	.	.	ENSG00000131055	ENST00000376075	.	.	.	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.0381	13.5914	0.61961	0.0:0.0:1.0:0.0	.	.	.	.	X	102	.	ENSP00000365243:W102X	W	+	3	0	COX4I2	29694926	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	8.216000	0.89764	2.584000	0.87258	0.491000	0.48974	TGG		PASS	0.567	COX4I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078548.1	NM_032609		55	143	55	143	---	---	---	---
TMPRSS15	5651	broad.mit.edu	37	21	19715859	19715859	+	Silent	SNP	A	A	G			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr21:19715859A>G	ENST00000284885.3	-	12	1425	c.1392T>C	c.(1390-1392)taT>taC	p.Y464Y		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	464	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.Y464Y(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TTACTTGTCCATAATTCCAAT	0.279																																						uc002ykw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						c.(1390-1392)TAT>TAC		enterokinase precursor							85.0	71.0	76.0					21																	19715859		2201	4292	6493	SO:0001819	synonymous_variant	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19715859A>G		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.1392T>C	21.37:g.19715859A>G							p.Y464Y	NM_002772	NP_002763	P98073	ENTK_HUMAN			12	1423	-			464			Extracellular (Potential).|MAM.		Q2NKL7	Silent	SNP	ENST00000284885.3	37	c.1392T>C	CCDS13571.1																																																																																				PASS	0.279	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		40	50	40	50	---	---	---	---
ADORA2A	135	broad.mit.edu	37	22	24837011	24837011	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr22:24837011G>A	ENST00000337539.7	+	3	1252	c.793G>A	c.(793-795)Gcc>Acc	p.A265T	ADORA2A-AS1_ENST00000326341.4_RNA|ADORA2A_ENST00000496497.1_3'UTR|SPECC1L-ADORA2A_ENST00000358654.2_3'UTR|ADORA2A-AS1_ENST00000427813.2_RNA|ADORA2A-AS1_ENST00000543438.1_RNA	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor	265	Agonist binding.				activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cAMP biosynthetic process (GO:0006171)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|central nervous system development (GO:0007417)|inflammatory response (GO:0006954)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phagocytosis (GO:0006909)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|sensory perception (GO:0007600)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|G-protein coupled adenosine receptor activity (GO:0001609)|identical protein binding (GO:0042802)	p.A265T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Adenosine(DB00640)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Mefloquine(DB00358)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Regadenoson(DB06213)|Theobromine(DB01412)|Theophylline(DB00277)	CTGCAGCCACGCCCCTCTCTG	0.577																																						uc002zzx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(793-795)GCC>ACC		adenosine A2a receptor	Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277)						97.0	90.0	93.0					22																	24837011		2203	4300	6503	SO:0001583	missense	135				apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception	integral to plasma membrane|membrane fraction	enzyme binding	g.chr22:24837011G>A	X68486	CCDS13826.1	22q11.23	2012-08-08			ENSG00000128271	ENSG00000128271		"""GPCR / Class A : Adenosine receptors"""	263	protein-coding gene	gene with protein product		102776		ADORA2		1662665, 2541503	Standard	NM_001278497		Approved	RDC8	uc002zzy.4	P29274	OTTHUMG00000150761	ENST00000337539.7:c.793G>A	22.37:g.24837011G>A	ENSP00000336630:p.Ala265Thr					ADORA2A_uc002zzy.3_Missense_Mutation_p.A265T|ADORA2A_uc011ajs.1_Missense_Mutation_p.A126T|ADORA2A_uc010gup.2_Missense_Mutation_p.A265T|ADORA2A_uc010guq.2_Missense_Mutation_p.A265T|ADORA2A_uc003aab.2_Missense_Mutation_p.A265T|ADORA2A_uc003aac.2_Missense_Mutation_p.A126T|C22orf45_uc003aad.1_Intron	p.A265T	NM_000675	NP_000666	P29274	AA2AR_HUMAN			5	1556	+	Colorectal(2;0.196)		265			Agonist binding.|Extracellular.		B2R7E0	Missense_Mutation	SNP	ENST00000337539.7	37	c.793G>A	CCDS13826.1	.	.	.	.	.	.	.	.	.	.	G	10.12	1.263055	0.23051	.	.	ENSG00000128271	ENST00000444262;ENST00000541988;ENST00000337539;ENST00000417596	T;T	0.71461	-0.57;-0.57	5.13	5.13	0.70059	GPCR, rhodopsin-like superfamily (1);	0.188202	0.45361	D	0.000362	T	0.43612	0.1255	N	0.05574	-0.02	0.36327	D	0.858628	P	0.39809	0.689	B	0.28011	0.085	T	0.55192	-0.8179	10	0.15499	T	0.54	-29.7979	13.3335	0.60503	0.0:0.1583:0.8417:0.0	.	265	P29274	AA2AR_HUMAN	T	265	ENSP00000414802:A265T;ENSP00000336630:A265T	ENSP00000336630:A265T	A	+	1	0	ADORA2A	23167011	0.992000	0.36948	0.991000	0.47740	0.959000	0.62525	2.452000	0.44961	2.385000	0.81259	0.462000	0.41574	GCC		PASS	0.577	ADORA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319971.2	NM_000675		16	99	16	99	---	---	---	---
TTC38	55020	broad.mit.edu	37	22	46674532	46674532	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr22:46674532G>A	ENST00000381031.3	+	6	665	c.589G>A	c.(589-591)Gac>Aac	p.D197N	TTC38_ENST00000445282.2_Missense_Mutation_p.D139N	NM_017931.2	NP_060401	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38	197						extracellular vesicular exosome (GO:0070062)		p.D197N(2)		endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						CAACTTCTACGACCAGGCAGA	0.478																																						uc003bhi.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(1)	1						c.(589-591)GAC>AAC		tetratricopeptide repeat domain 38							97.0	98.0	98.0					22																	46674532		1915	4130	6045	SO:0001583	missense	55020						binding	g.chr22:46674532G>A		CCDS43030.1	22q13	2013-01-11			ENSG00000075234	ENSG00000075234		"""Tetratricopeptide (TTC) repeat domain containing"""	26082	protein-coding gene	gene with protein product							Standard	NM_017931		Approved	FLJ20699	uc003bhi.3	Q5R3I4	OTTHUMG00000150494	ENST00000381031.3:c.589G>A	22.37:g.46674532G>A	ENSP00000370419:p.Asp197Asn					TTC38_uc011aqx.1_Missense_Mutation_p.D139N	p.D197N	NM_017931	NP_060401	Q5R3I4	TTC38_HUMAN			6	665	+			197			TPR 2.		Q8WV27|Q9NWP8	Missense_Mutation	SNP	ENST00000381031.3	37	c.589G>A	CCDS43030.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.640929	0.67244	.	.	ENSG00000075234	ENST00000381031;ENST00000445282;ENST00000421359	T;T	0.77358	1.43;-1.09	5.59	5.59	0.84812	Tetratricopeptide-like helical (1);	0.042807	0.85682	D	0.000000	T	0.80798	0.4692	M	0.81942	2.565	0.80722	D	1	P;D	0.54964	0.937;0.969	B;B	0.42555	0.391;0.345	D	0.83727	0.0196	10	0.51188	T	0.08	-3.145	18.5938	0.91223	0.0:0.0:1.0:0.0	.	139;197	E7ES35;Q5R3I4	.;TTC38_HUMAN	N	197;139;197	ENSP00000370419:D197N;ENSP00000393960:D139N	ENSP00000370419:D197N	D	+	1	0	TTC38	45053196	1.000000	0.71417	0.144000	0.22314	0.558000	0.35554	9.000000	0.93564	2.625000	0.88918	0.655000	0.94253	GAC		PASS	0.478	TTC38-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000318469.1	NM_017931		6	200	6	200	---	---	---	---
CPT1B	1375	broad.mit.edu	37	22	51011971	51011971	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr22:51011971C>T	ENST00000360719.2	-	10	1281	c.1144G>A	c.(1144-1146)Gca>Aca	p.A382T	CPT1B_ENST00000434492.2_Missense_Mutation_p.A179T|CPT1B_ENST00000440709.1_Intron|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000457250.1_Missense_Mutation_p.A348T|CPT1B_ENST00000405237.3_Missense_Mutation_p.A382T|CPT1B_ENST00000395650.2_Missense_Mutation_p.A382T|CPT1B_ENST00000312108.7_Missense_Mutation_p.A382T	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	382					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)	p.A382T(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		GTGAGGGCTGCCAGCTTCTCC	0.637																																					Esophageal Squamous(170;988 1933 25577 30295 48163)	uc003bmk.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1144-1146)GCA>ACA		carnitine palmitoyltransferase 1B isoform a							62.0	62.0	62.0					22																	51011971		2203	4300	6503	SO:0001583	missense	1375				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr22:51011971C>T	U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.1144G>A	22.37:g.51011971C>T	ENSP00000353945:p.Ala382Thr					CPT1B_uc003bml.2_Missense_Mutation_p.A382T|CPT1B_uc003bmm.2_Missense_Mutation_p.A382T|CPT1B_uc003bmo.2_Missense_Mutation_p.A382T|CPT1B_uc011asa.1_Missense_Mutation_p.A348T|CPT1B_uc003bmn.2_Missense_Mutation_p.A382T|CPT1B_uc011asb.1_Intron|CHKB-CPT1B_uc003bmp.2_Missense_Mutation_p.A179T	p.A382T	NM_001145137	NP_001138609	Q92523	CPT1B_HUMAN		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)	9	1306	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	382			Cytoplasmic (Potential).		B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Missense_Mutation	SNP	ENST00000360719.2	37	c.1144G>A	CCDS14098.1	.	.	.	.	.	.	.	.	.	.	C	31	5.076740	0.94000	.	.	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000434492;ENST00000395650	D;D;D;D;D;D	0.91295	-2.77;-2.77;-2.77;-2.82;-2.82;-2.77	5.09	5.09	0.68999	.	0.052881	0.85682	D	0.000000	D	0.96352	0.8810	H	0.95539	3.685	0.80722	D	1	P;P;P	0.46020	0.871;0.836;0.741	P;P;P	0.58928	0.848;0.794;0.551	D	0.97250	0.9897	10	0.87932	D	0	-16.7004	16.0896	0.81084	0.0:1.0:0.0:0.0	.	348;179;382	B7Z4U4;A2RRE8;Q92523	.;.;CPT1B_HUMAN	T	382;382;382;348;179;382	ENSP00000385486:A382T;ENSP00000312189:A382T;ENSP00000353945:A382T;ENSP00000409342:A348T;ENSP00000410966:A179T;ENSP00000379011:A382T	ENSP00000312189:A382T	A	-	1	0	CPT1B	49358837	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.339000	0.65953	2.662000	0.90505	0.555000	0.69702	GCA		PASS	0.637	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	NM_152246		39	118	39	118	---	---	---	---
PCYT1B	9468	broad.mit.edu	37	X	24597532	24597532	+	Silent	SNP	C	C	A			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chrX:24597532C>A	ENST00000379144.2	-	6	739	c.609G>T	c.(607-609)tcG>tcT	p.S203S	PCYT1B_ENST00000379145.1_Silent_p.S185S|PCYT1B_ENST00000356768.4_Silent_p.S203S	NM_004845.4	NP_004836.2	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	203					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|ovarian follicle development (GO:0001541)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	choline-phosphate cytidylyltransferase activity (GO:0004105)	p.S203S(2)|p.S185S(1)		breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	TAATGATGTCCGATGTTGAGA	0.433																																						uc004dbi.2																			3	Substitution - coding silent(3)		lung(3)		0						c.(607-609)TCG>TCT		choline phosphate cytidylyltransferase 1 beta	Choline(DB00122)						279.0	196.0	224.0					X																	24597532		2203	4300	6503	SO:0001819	synonymous_variant	9468					endoplasmic reticulum	choline-phosphate cytidylyltransferase activity	g.chrX:24597532C>A	AF052510	CCDS14213.1, CCDS55391.1, CCDS55392.1	Xp22	2008-02-05	2005-09-05		ENSG00000102230	ENSG00000102230	2.7.7.15		8755	protein-coding gene	gene with protein product		604926	"""phosphate cytidylyltransferase 1, choline, beta isoform"""			9593753	Standard	NM_004845		Approved	CCT-beta, CTB	uc004dbi.3	Q9Y5K3	OTTHUMG00000021270	ENST00000379144.2:c.609G>T	X.37:g.24597532C>A						PCYT1B_uc004dbk.3_Silent_p.S203S|PCYT1B_uc004dbj.2_Silent_p.S185S	p.S203S	NM_004845	NP_004836	Q9Y5K3	PCY1B_HUMAN			6	842	-			203			Catalytic (Potential).		A8IX00|B2RCX8|B4DK10|E9PD84|O60621|Q86XC9	Silent	SNP	ENST00000379144.2	37	c.609G>T	CCDS14213.1																																																																																				PASS	0.433	PCYT1B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056103.1	NM_004845		46	81	46	81	---	---	---	---
MAGEB2	4113	broad.mit.edu	37	X	30237095	30237095	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chrX:30237095C>A	ENST00000378988.4	+	2	499	c.398C>A	c.(397-399)aCa>aAa	p.T133K		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	133	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.T133K(2)		breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						AAGTCCGTTACAAAGGGAGAA	0.458																																						uc004dbz.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(397-399)ACA>AAA		melanoma antigen family B, 2							57.0	56.0	56.0					X																	30237095		2202	4300	6502	SO:0001583	missense	4113						protein binding	g.chrX:30237095C>A	AF015766	CCDS14219.1	Xp21.3	2009-03-17			ENSG00000099399	ENSG00000099399			6809	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 6"", ""melanoma-associated antigen B2"", ""cancer/testis antigen family 3, member 2"""	300098				9441743	Standard	NM_002364		Approved	DAM6, MAGE-XP-2, MGC26438, CT3.2	uc004dbz.3	O15479	OTTHUMG00000021319	ENST00000378988.4:c.398C>A	X.37:g.30237095C>A	ENSP00000368273:p.Thr133Lys						p.T133K	NM_002364	NP_002355	O15479	MAGB2_HUMAN			2	501	+			133			MAGE.		O75860	Missense_Mutation	SNP	ENST00000378988.4	37	c.398C>A	CCDS14219.1	.	.	.	.	.	.	.	.	.	.	C	6.440	0.449256	0.12223	.	.	ENSG00000099399	ENST00000378988	T	0.04603	3.59	3.27	-2.28	0.06826	.	1.478860	0.04491	N	0.379537	T	0.03390	0.0098	N	0.16266	0.395	0.09310	N	1	B	0.24092	0.097	B	0.24701	0.055	T	0.44329	-0.9335	10	0.35671	T	0.21	.	4.3913	0.11341	0.6151:0.2099:0.0:0.1749	.	133	O15479	MAGB2_HUMAN	K	133	ENSP00000368273:T133K	ENSP00000368273:T133K	T	+	2	0	MAGEB2	30147016	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.278000	0.08490	-0.616000	0.05671	0.436000	0.28706	ACA		PASS	0.458	MAGEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056157.1	NM_002364		5	22	5	22	---	---	---	---
USP11	8237	broad.mit.edu	37	X	47104414	47104414	+	Splice_Site	SNP	G	G	C			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chrX:47104414G>C	ENST00000218348.3	+	16	2215		c.e16-1		USP11_ENST00000377107.2_Splice_Site	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11						protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)	p.?(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						CTCACCCCCAGCCCAGCCGTA	0.567																																						uc004dhp.2																			1	Unknown(1)		lung(1)	ovary(1)|lung(1)|central_nervous_system(1)	3						c.e16-1		ubiquitin specific peptidase 11							60.0	53.0	55.0					X																	47104414		2203	4300	6503	SO:0001630	splice_region_variant	8237				protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrX:47104414G>C	U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"""Ubiquitin-specific peptidases"""	12609	protein-coding gene	gene with protein product		300050	"""ubiquitin specific protease 11"""			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.2216-1G>C	X.37:g.47104414G>C						USP11_uc004dhq.2_Splice_Site_p.A465_splice	p.A739_splice	NM_004651	NP_004642	P51784	UBP11_HUMAN			16	2216	+								B2RTX1|Q8IUG6|Q9BWE1	Splice_Site	SNP	ENST00000218348.3	37	c.2216_splice	CCDS14277.1	.	.	.	.	.	.	.	.	.	.	.	13.65	2.301102	0.40694	.	.	ENSG00000102226	ENST00000377107;ENST00000218348	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6902	0.69080	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	USP11	46989358	1.000000	0.71417	1.000000	0.80357	0.351000	0.29236	8.210000	0.89753	2.166000	0.68216	0.513000	0.50165	.		PASS	0.567	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651	Intron	3	10	3	10	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76855029	76855029	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chrX:76855029T>G	ENST00000373344.5	-	25	6021	c.5807A>C	c.(5806-5808)aAg>aCg	p.K1936T	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.K1898T	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1936	Poly-Lys.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.K1936T(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTTTTTCCCCTTTTTCCCTTT	0.348			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.3				Rec	yes		X	Xq21.1	546	Mis|F|N	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			Pancreatic neuroendocrine tumors		3	Substitution - Missense(2)|Unknown(1)		lung(2)|bone(1)	haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30						c.(5806-5808)AAG>ACG		transcriptional regulator ATRX isoform 1	Phosphatidylserine(DB00144)						329.0	308.0	315.0					X																	76855029		2203	4295	6498	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76855029T>G	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5807A>C	X.37:g.76855029T>G	ENSP00000362441:p.Lys1936Thr					ATRX_uc004ecq.3_Missense_Mutation_p.K1898T|ATRX_uc004eco.3_Missense_Mutation_p.K1721T	p.K1936T	NM_000489	NP_000480	P46100	ATRX_HUMAN			25	6039	-			1936			Poly-Lys.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.5807A>C	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	T	10.45	1.352544	0.24512	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.92858	-3.11;-3.12	5.64	0.648	0.17801	.	0.202398	0.40469	U	0.001084	D	0.85652	0.5746	L	0.38175	1.15	0.80722	D	1	B;B	0.31383	0.096;0.321	B;B	0.34180	0.177;0.138	T	0.74222	-0.3735	10	0.30854	T	0.27	-2.2976	8.217	0.31519	0.0:0.3103:0.0:0.6897	.	1898;1936	P46100-4;P46100	.;ATRX_HUMAN	T	1936;1898	ENSP00000362441:K1936T;ENSP00000378967:K1898T	ENSP00000362441:K1936T	K	-	2	0	ATRX	76741685	0.758000	0.28405	0.831000	0.32960	0.973000	0.67179	1.172000	0.31908	-0.241000	0.09681	-0.330000	0.08379	AAG		PASS	0.348	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		81	323	81	323	---	---	---	---
PCDH11X	27328	broad.mit.edu	37	X	91873392	91873392	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chrX:91873392C>T	ENST00000373094.1	+	7	4342	c.3497C>T	c.(3496-3498)gCa>gTa	p.A1166V	PCDH11X_ENST00000298274.8_Missense_Mutation_p.A1129V|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A1129V|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A1158V|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A1156V|PCDH11X_ENST00000504220.2_3'UTR|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A1148V	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1166					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A1166G(1)|p.A1166V(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TCTTCGCAAGCACAGGCCTCT	0.562																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1																			2	Substitution - Missense(2)		lung(2)	large_intestine(2)	2						c.(3496-3498)GCA>GTA		protocadherin 11 X-linked isoform c							160.0	131.0	141.0					X																	91873392		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91873392C>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3497C>T	X.37:g.91873392C>T	ENSP00000362186:p.Ala1166Val					PCDH11X_uc004efl.1_Missense_Mutation_p.A1156V|PCDH11X_uc004efo.1_Missense_Mutation_p.A1129V|PCDH11X_uc010nmv.1_3'UTR|PCDH11X_uc004efm.1_Missense_Mutation_p.A1158V|PCDH11X_uc004efn.1_Missense_Mutation_p.A1148V	p.A1166V	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			7	4342	+			1166			Cytoplasmic (Potential).		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.3497C>T	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	8.464	0.855966	0.17106	.	.	ENSG00000102290	ENST00000373094;ENST00000373097;ENST00000373088;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T	0.55234	0.55;0.56;0.56;0.53;0.56;0.56	3.95	-1.48	0.08745	.	1.767460	0.03906	N	0.281058	T	0.30603	0.0770	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.0	T	0.14476	-1.0471	10	0.44086	T	0.13	.	4.7696	0.13150	0.0:0.3782:0.3144:0.3074	.	1129;1148;1158;1156;1166	Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7	.;.;.;.;PC11X_HUMAN	V	1166;1156;1129;1148;1158;1166;1129	ENSP00000362186:A1166V;ENSP00000362189:A1156V;ENSP00000362180:A1129V;ENSP00000355105:A1148V;ENSP00000384758:A1158V;ENSP00000298274:A1129V	ENSP00000298274:A1129V	A	+	2	0	PCDH11X	91760048	0.009000	0.17119	0.000000	0.03702	0.010000	0.07245	-0.081000	0.11321	-0.663000	0.05331	-0.478000	0.04885	GCA		PASS	0.562	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		32	29	32	29	---	---	---	---
PCDH11X	27328	broad.mit.edu	37	X	91873712	91873712	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chrX:91873712C>A	ENST00000373094.1	+	7	4662	c.3817C>A	c.(3817-3819)Caa>Aaa	p.Q1273K	PCDH11X_ENST00000298274.8_Missense_Mutation_p.Q1236K|PCDH11X_ENST00000373088.1_Missense_Mutation_p.Q1236K|PCDH11X_ENST00000406881.1_Missense_Mutation_p.Q1265K|PCDH11X_ENST00000373097.1_Missense_Mutation_p.Q1263K|PCDH11X_ENST00000504220.2_3'UTR|PCDH11X_ENST00000361655.2_Missense_Mutation_p.Q1255K	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1273					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q1273K(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TAGTCAGGCCCAATCATCAGT	0.542																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)	2						c.(3817-3819)CAA>AAA		protocadherin 11 X-linked isoform c							240.0	214.0	223.0					X																	91873712		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91873712C>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3817C>A	X.37:g.91873712C>A	ENSP00000362186:p.Gln1273Lys					PCDH11X_uc004efl.1_Missense_Mutation_p.Q1263K|PCDH11X_uc004efo.1_Missense_Mutation_p.Q1236K|PCDH11X_uc010nmv.1_3'UTR|PCDH11X_uc004efm.1_Missense_Mutation_p.Q1265K|PCDH11X_uc004efn.1_Missense_Mutation_p.Q1255K	p.Q1273K	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			7	4662	+			1273			Cytoplasmic (Potential).		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.3817C>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	2.974	-0.211785	0.06140	.	.	ENSG00000102290	ENST00000373094;ENST00000373097;ENST00000373088;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T	0.52983	0.69;0.7;0.67;0.64;0.7;0.67	3.53	2.64	0.31445	.	.	.	.	.	T	0.29817	0.0745	N	0.24115	0.695	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.24333	-1.0163	9	0.66056	D	0.02	.	3.213	0.06689	0.2259:0.5466:0.0:0.2275	.	1236;1255;1265;1263;1273	Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7	.;.;.;.;PC11X_HUMAN	K	1273;1263;1236;1255;1265;1273;1236	ENSP00000362186:Q1273K;ENSP00000362189:Q1263K;ENSP00000362180:Q1236K;ENSP00000355105:Q1255K;ENSP00000384758:Q1265K;ENSP00000298274:Q1236K	ENSP00000298274:Q1236K	Q	+	1	0	PCDH11X	91760368	0.000000	0.05858	0.001000	0.08648	0.048000	0.14542	0.377000	0.20552	0.585000	0.29608	0.466000	0.42574	CAA		PASS	0.542	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		111	110	111	110	---	---	---	---
NOX1	27035	broad.mit.edu	37	X	100118222	100118222	+	Missense_Mutation	SNP	C	C	T	rs192653247		TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chrX:100118222C>T	ENST00000372966.3	-	4	468	c.263G>A	c.(262-264)cGc>cAc	p.R88H	NOX1_ENST00000372960.4_Missense_Mutation_p.R51H|NOX1_ENST00000372964.1_Missense_Mutation_p.R88H|NOX1_ENST00000217885.5_Missense_Mutation_p.R88H	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	88	Ferric oxidoreductase.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|cellular response to hyperoxia (GO:0071455)|cellular stress response to acidic pH (GO:1990451)|extracellular matrix organization (GO:0030198)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|intracellular pH elevation (GO:0051454)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of JNK cascade (GO:0046330)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation vascular endothelial growth factor production (GO:0010575)|proton transport (GO:0015992)|regulation of blood pressure (GO:0008217)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|respiratory burst (GO:0045730)|signal transduction (GO:0007165)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|invadopodium membrane (GO:0071438)|NADPH oxidase complex (GO:0043020)	metal ion binding (GO:0046872)|NADP binding (GO:0050661)|Rac GTPase binding (GO:0048365)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated proton channel activity (GO:0030171)	p.R88H(2)		cervix(1)|lung(3)|ovary(1)|skin(2)	7						TCTCAGTGTGCGGCTGCAAAA	0.433													C|||	3	0.000794702	0.0	0.0	3775	,	,		15206	0.003		0.0	False		,,,				2504	0.0					uc004egj.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(262-264)CGC>CAC		NADPH oxidase 1 isoform long							217.0	185.0	196.0					X																	100118222		2203	4299	6502	SO:0001583	missense	27035				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity	g.chrX:100118222C>T	AF127763	CCDS14474.1, CCDS14475.1, CCDS65298.1	Xq22	2008-08-01			ENSG00000007952	ENSG00000007952			7889	protein-coding gene	gene with protein product	"""mitogenic oxidase (pyridine nucleotide-dependent superoxide-generating)"", ""NADPH oxidase homolog-1"", ""NADPH oxidase 1 variant NOH-1L"""	300225				10485709, 10615049	Standard	NM_007052		Approved	NOH1, NOH-1, MOX1, GP91-2	uc004egj.3	Q9Y5S8	OTTHUMG00000022007	ENST00000372966.3:c.263G>A	X.37:g.100118222C>T	ENSP00000362057:p.Arg88His					uc010nnf.2_Intron|NOX1_uc004egl.3_Missense_Mutation_p.R88H|NOX1_uc010nne.2_Missense_Mutation_p.R51H	p.R88H	NM_007052	NP_008983	Q9Y5S8	NOX1_HUMAN			4	469	-			88			Cytoplasmic (Potential).|Ferric oxidoreductase.		A8K836|O95691|Q2PP02	Missense_Mutation	SNP	ENST00000372966.3	37	c.263G>A	CCDS14474.1	1	6.027727546714888E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	12.42	1.933162	0.34096	.	.	ENSG00000007952	ENST00000372966;ENST00000372964;ENST00000372961;ENST00000217885;ENST00000372960	D;D;D;D	0.91843	-2.92;-2.92;-2.92;-2.92	4.27	2.49	0.30216	Flavoprotein transmembrane component (1);	0.440664	0.16333	N	0.219037	D	0.88559	0.6469	M	0.69463	2.115	0.18873	N	0.999988	B;B;B	0.29909	0.096;0.261;0.148	B;B;B	0.30179	0.024;0.108;0.112	T	0.74352	-0.3693	10	0.16420	T	0.52	1.9832	8.5839	0.33646	0.0:0.802:0.0:0.198	.	51;88;88	A6NGA6;Q9Y5S8-3;Q9Y5S8	.;.;NOX1_HUMAN	H	88;88;88;88;51	ENSP00000362057:R88H;ENSP00000362055:R88H;ENSP00000217885:R88H;ENSP00000362051:R51H	ENSP00000217885:R88H	R	-	2	0	NOX1	100004878	0.002000	0.14202	0.000000	0.03702	0.990000	0.78478	1.752000	0.38349	0.399000	0.25367	0.600000	0.82982	CGC		PASS	0.433	NOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057495.1	NM_007052		4	158	4	158	---	---	---	---
LONRF3	79836	broad.mit.edu	37	X	118147105	118147105	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chrX:118147105C>T	ENST00000371628.3	+	9	1946	c.1915C>T	c.(1915-1917)Cat>Tat	p.H639Y	LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000422289.2_Missense_Mutation_p.H383Y|LONRF3_ENST00000304778.7_Missense_Mutation_p.H598Y	NM_001031855.1	NP_001027026.1	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	639	Lon.						ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)	p.H639Y(1)|p.H598Y(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						CAGGGTGCTCCATCAGAGCCA	0.507																																						uc004eqw.2																			2	Substitution - Missense(2)		lung(2)	breast(1)|central_nervous_system(1)	2						c.(1915-1917)CAT>TAT		LON peptidase N-terminal domain and ring finger							101.0	93.0	96.0					X																	118147105		2203	4300	6503	SO:0001583	missense	79836				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding	g.chrX:118147105C>T	AK026265	CCDS14575.1, CCDS35374.1, CCDS76014.1	Xq24	2013-01-09	2005-08-19	2005-08-19	ENSG00000175556	ENSG00000175556		"""RING-type (C3HC4) zinc fingers"""	21152	protein-coding gene	gene with protein product			"""ring finger protein 127"""	RNF127			Standard	XM_005262476		Approved	FLJ22612	uc004eqw.3	Q496Y0	OTTHUMG00000022262	ENST00000371628.3:c.1915C>T	X.37:g.118147105C>T	ENSP00000360690:p.His639Tyr					LONRF3_uc004eqx.2_Missense_Mutation_p.H598Y|LONRF3_uc004eqy.2_RNA|LONRF3_uc004eqz.2_Missense_Mutation_p.H383Y	p.H639Y	NM_001031855	NP_001027026	Q496Y0	LONF3_HUMAN			9	1946	+			639			Lon.		Q5JPN6|Q8NB00|Q9H647	Missense_Mutation	SNP	ENST00000371628.3	37	c.1915C>T	CCDS35374.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.96|14.96	2.692674|2.692674	0.48202|0.48202	.|.	.|.	ENSG00000175556|ENSG00000175556	ENST00000365713;ENST00000304778;ENST00000371628;ENST00000422289|ENST00000439603	T;T;T;T|.	0.40756|.	1.02;1.02;1.02;1.02|.	5.88|5.88	5.88|5.88	0.94601|0.94601	Peptidase S16, lon N-terminal (1);PUA-like domain (1);|.	0.256157|.	0.39544|.	N|.	0.001336|.	T|T	0.30039|0.30039	0.0752|0.0752	N|N	0.11927|0.11927	0.2|0.2	0.20489|0.20489	N|N	0.999891|0.999891	P;B;B|.	0.39282|.	0.666;0.359;0.412|.	P;B;B|.	0.46629|.	0.522;0.3;0.426|.	T|T	0.23261|0.23261	-1.0193|-1.0193	10|5	0.66056|.	D|.	0.02|.	-44.6457|-44.6457	13.0174|13.0174	0.58766|0.58766	0.1606:0.8394:0.0:0.0|0.1606:0.8394:0.0:0.0	.|.	383;598;639|.	B3KUN7;Q496Y0-2;Q496Y0|.	.;.;LONF3_HUMAN|.	Y|L	598;598;639;383|404	ENSP00000360691:H598Y;ENSP00000307732:H598Y;ENSP00000360690:H639Y;ENSP00000408894:H383Y|.	ENSP00000307732:H598Y|.	H|P	+|+	1|2	0|0	LONRF3|LONRF3	118031133|118031133	0.000000|0.000000	0.05858|0.05858	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	0.197000|0.197000	0.17197|0.17197	2.471000|2.471000	0.83476|0.83476	0.600000|0.600000	0.82982|0.82982	CAT|CCA		PASS	0.507	LONRF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355124.2	NM_024778		57	51	57	51	---	---	---	---
GPR112	139378	broad.mit.edu	37	X	135430461	135430461	+	Silent	SNP	C	C	A			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chrX:135430461C>A	ENST00000394143.1	+	6	4887	c.4596C>A	c.(4594-4596)ccC>ccA	p.P1532P	GPR112_ENST00000412101.1_Silent_p.P1327P|GPR112_ENST00000370652.1_Silent_p.P1532P|GPR112_ENST00000287534.4_Silent_p.P1469P|GPR112_ENST00000394141.1_Silent_p.P1327P	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1532					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)	p.P1532P(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTGACACTCCCCCAATAGTGA	0.428																																						uc004ezu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(4594-4596)CCC>CCA		G-protein coupled receptor 112							84.0	82.0	82.0					X																	135430461		2203	4299	6502	SO:0001819	synonymous_variant	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135430461C>A	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.4596C>A	X.37:g.135430461C>A						GPR112_uc010nsb.1_Silent_p.P1327P|GPR112_uc010nsc.1_Silent_p.P1299P	p.P1532P	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			6	4887	+	Acute lymphoblastic leukemia(192;0.000127)		1532			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	ENST00000394143.1	37	c.4596C>A	CCDS35409.1																																																																																				PASS	0.428	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			4	170	4	170	---	---	---	---
CNGA2	1260	broad.mit.edu	37	X	150912664	150912664	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chrX:150912664C>A	ENST00000329903.4	+	6	1722	c.1689C>A	c.(1687-1689)taC>taA	p.Y563*		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	563					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.Y563*(1)		breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TGACTGAGTACCCTGATGCCA	0.522																																						uc004fey.1																			1	Substitution - Nonsense(1)		lung(1)	breast(3)	3						c.(1687-1689)TAC>TAA		cyclic nucleotide gated channel alpha 2							126.0	116.0	119.0					X																	150912664		2203	4300	6503	SO:0001587	stop_gained	1260				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chrX:150912664C>A	S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.1689C>A	X.37:g.150912664C>A	ENSP00000328478:p.Tyr563*						p.Y563*	NM_005140	NP_005131	Q16280	CNGA2_HUMAN			7	1913	+	Acute lymphoblastic leukemia(192;6.56e-05)		563			cAMP (By similarity).|Cytoplasmic (Potential).		A0AVD0	Nonsense_Mutation	SNP	ENST00000329903.4	37	c.1689C>A	CCDS14701.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.886781	0.91814	.	.	ENSG00000183862	ENST00000329903	.	.	.	5.33	0.483	0.16820	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.5916	0.33690	0.0:0.56:0.0:0.44	.	.	.	.	X	563	.	ENSP00000328478:Y563X	Y	+	3	2	CNGA2	150663320	0.655000	0.27376	0.989000	0.46669	0.937000	0.57800	-0.135000	0.10420	-0.380000	0.07894	0.529000	0.55759	TAC		PASS	0.522	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	NM_005140		4	133	4	133	---	---	---	---
PKDCC	91461	broad.mit.edu	37	2	42275911	42275912	+	Frame_Shift_Ins	INS	-	-	G			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr2:42275911_42275912insG	ENST00000294964.5	+	1	752_753	c.572_573insG	c.(571-576)ctggcgfs	p.A192fs		NM_138370.2	NP_612379.2			protein kinase domain containing, cytoplasmic											breast(2)|kidney(1)|lung(5)	8						TGCTATCGGCTGGCGGCCCACA	0.693																																						uc002rsg.2																			0				breast(1)	1						c.(571-573)CTGfs		protein kinase-like protein SgK493																																				SO:0001589	frameshift_variant	91461				cell differentiation|embryonic digestive tract development|lung alveolus development|negative regulation of Golgi to plasma membrane protein transport|ossification|palate development|positive regulation of bone mineralization|positive regulation of chondrocyte differentiation|protein transport	Golgi apparatus	ATP binding|protein kinase activity	g.chr2:42275911_42275912insG		CCDS33186.2	2p21	2014-01-28	2012-12-07		ENSG00000162878	ENSG00000162878			25123	protein-coding gene	gene with protein product	"""vertebrate lonesome kinase"""	614150	"""protein kinase domain containing, cytoplasmic homolog (mouse)"""			19097194, 19465597	Standard	NM_138370		Approved	SgK493, Vlk	uc002rsg.3	Q504Y2	OTTHUMG00000152303	ENST00000294964.5:c.574dupG	2.37:g.42275913_42275913dupG	ENSP00000294964:p.Ala192fs						p.L191fs	NM_138370	NP_612379	Q504Y2	PKDCC_HUMAN			1	751_752	+			191			Protein kinase.			Frame_Shift_Ins	INS	ENST00000294964.5	37	c.572_573insG	CCDS33186.2																																																																																					0.693	PKDCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325745.3			11	10	11	10	---	---	---	---
ZNF169	169841	broad.mit.edu	37	9	97062558	97062558	+	Frame_Shift_Del	DEL	G	G	-			TCGA-66-2781-01A-01D-1522-08	TCGA-66-2781-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bfb33630-c8a8-4ec4-9eee-8bef349339ea	1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e	g.chr9:97062558delG	ENST00000395395.2	+	5	808	c.718delG	c.(718-720)gggfs	p.G240fs	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	240					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				CCCTGAATGCGGGAGAGGCTT	0.517																																						uc004aum.1																			0				ovary(2)	2						c.(718-720)GGGfs		zinc finger protein 169							69.0	66.0	67.0					9																	97062558		2203	4300	6503	SO:0001589	frameshift_variant	169841					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:97062558delG	U28322	CCDS6709.2	9q22.32	2014-07-30			ENSG00000175787	ENSG00000175787		"""Zinc fingers, C2H2-type"", ""-"""	12957	protein-coding gene	gene with protein product		603404				9186526, 9071574	Standard	NM_001301275		Approved	MGC51961	uc004aum.1	Q14929	OTTHUMG00000020264	ENST00000395395.2:c.718delG	9.37:g.97062558delG	ENSP00000378792:p.Gly240fs						p.G240fs	NM_194320	NP_919301	Q14929	ZN169_HUMAN			5	823	+		Acute lymphoblastic leukemia(62;0.136)	240			C2H2-type 1.		A2AGP5|A8K127|Q6PI28	Frame_Shift_Del	DEL	ENST00000395395.2	37	c.718delG	CCDS6709.2																																																																																					0.517	ZNF169-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253714.1	NM_194320		59	36	59	36	---	---	---	---
